#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
AACS	65985	genome.wustl.edu	37	12	125613914	125613914	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:125613914T>G	ENST00000316519.6	+	14	1663	c.1457T>G	c.(1456-1458)gTg>gGg	p.V486G	AACS_ENST00000261686.6_Missense_Mutation_p.V486G|AACS_ENST00000543665.1_5'UTR|AACS_ENST00000316543.10_Missense_Mutation_p.V84G|AACS_ENST00000545511.1_Missense_Mutation_p.C66G	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	486					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGCGAGCTGGTGTGTACTAAG	0.537																																						dbGAP											0													172.0	171.0	171.0					12																	125613914		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1457T>G	12.37:g.125613914T>G	ENSP00000324842:p.Val486Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.V486G	ENST00000316519.6	37	c.1457	CCDS9263.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.505503|4.505503	0.85282|0.85282	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000545511|ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118	.|T;T;T;T;T	.|0.47528	.|0.84;0.84;2.64;0.84;2.64	4.66|4.66	4.66|4.66	0.58398|0.58398	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76241|0.76241	0.3960|0.3960	H|H	0.96142|0.96142	3.775|3.775	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.962	.|D;P	.|0.63793	.|0.918;0.828	D|D	0.84692|0.84692	0.0723|0.0723	5|10	.|0.87932	.|D	.|0	.|.	14.2417|14.2417	0.65961|0.65961	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|486;486	.|Q86V21-2;Q86V21	.|.;AACS_HUMAN	G|G	66|486;486;84;151;41	.|ENSP00000324842:V486G;ENSP00000261686:V486G;ENSP00000324929:V84G;ENSP00000441686:V151G;ENSP00000441331:V41G	.|ENSP00000261686:V486G	C|V	+|+	1|2	0|0	AACS|AACS	124179867|124179867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.916000|6.916000	0.75776|0.75776	1.938000|1.938000	0.56188|0.56188	0.379000|0.379000	0.24179|0.24179	TGT|GTG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.537	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	222	0.45	1	T	NM_023928		125613914	125613914	+1	no_errors	ENST00000316519	ensembl	human	known	69_37n	missense	146	12.50	21	SNP	1.000	G
AADAT	51166	genome.wustl.edu	37	4	171009669	171009669	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:171009669A>C	ENST00000337664.4	-	2	390	c.114T>G	c.(112-114)ggT>ggG	p.G38G	AADAT_ENST00000353187.2_Silent_p.G38G|AADAT_ENST00000509167.1_Silent_p.G42G|AADAT_ENST00000515480.1_Silent_p.G38G	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	38					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		TTGGTAAGCCACCAGCCAAGG	0.398																																						dbGAP											0													157.0	137.0	144.0					4																	171009669		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.114T>G	4.37:g.171009669A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP84|Q9UL02	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.G42	ENST00000337664.4	37	c.126	CCDS3814.1	4																																																																																			AADAT	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000109576		0.398	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	171	0.00	0	A	NM_016228		171009669	171009669	-1	no_errors	ENST00000509167	ensembl	human	known	69_37n	silent	76	21.65	21	SNP	0.998	C
AAK1	22848	genome.wustl.edu	37	2	69769717	69769717	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:69769717T>G	ENST00000409085.4	-	5	848	c.472A>C	c.(472-474)Acc>Ccc	p.T158P	AAK1_ENST00000406297.3_Missense_Mutation_p.T158P|AAK1_ENST00000409068.1_Missense_Mutation_p.T158P|AAK1_ENST00000470281.1_5'UTR	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCTTCACAGGTATCACAAAAT	0.507																																						dbGAP											0													121.0	128.0	126.0					2																	69769717		1980	4189	6169	-	-	-	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.472A>C	2.37:g.69769717T>G	ENSP00000386456:p.Thr158Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	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,pfscan_Prot_kinase_cat_dom	p.T158P	ENST00000409085.4	37	c.472	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605160	0.87157	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.20881	2.04;2.04;2.04	5.26	4.1	0.47936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.971	D;D;P	0.72625	0.978;0.946;0.812	T	0.30119	-0.9989	10	0.66056	D	0.02	-9.4509	10.1933	0.43039	0.0:0.079:0.0:0.921	.	158;158;158	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	P	158	ENSP00000386342:T158P;ENSP00000386456:T158P;ENSP00000385181:T158P	ENSP00000385181:T158P	T	-	1	0	AAK1	69623221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.126000	0.71635	1.006000	0.39211	0.482000	0.46254	ACC	AAK1	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000115977		0.507	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	168	0.00	0	T	NM_014911		69769717	69769717	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	missense	123	18.00	27	SNP	1.000	G
AAR2	25980	genome.wustl.edu	37	20	34843539	34843539	+	Missense_Mutation	SNP	A	A	C	rs7346635		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:34843539A>C	ENST00000373932.3	+	4	1373	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P	AAR2_ENST00000320849.4_Missense_Mutation_p.T343P|AAR2_ENST00000397286.3_Intron	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	343																	CGTGGATGCCACCCTGAGAAA	0.552																																						dbGAP											0													126.0	133.0	131.0					20																	34843539		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1027A>C	20.37:g.34843539A>C	ENSP00000363043:p.Thr343Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	pfam_AAR2	p.T343P	ENST00000373932.3	37	c.1027	CCDS13273.1	20	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980508	0.74474	.	.	ENSG00000131043	ENST00000320849;ENST00000373932	T;T	0.43688	0.94;0.94	6.17	3.96	0.45880	.	.	.	.	.	T	0.42154	0.1190	L	0.45581	1.43	0.37036	D	0.896915	P	0.45078	0.85	P	0.51079	0.658	T	0.42447	-0.9451	9	0.31617	T	0.26	.	5.8402	0.18629	0.6904:0.0:0.3096:0.0	rs7346635	343	Q9Y312	CT004_HUMAN	P	343	ENSP00000313674:T343P;ENSP00000363043:T343P	ENSP00000313674:T343P	T	+	1	0	C20orf4	34306953	0.805000	0.28982	1.000000	0.80357	0.999000	0.98932	1.917000	0.39996	1.165000	0.42670	0.533000	0.62120	ACC	AAR2	-	pfam_AAR2	ENSG00000131043		0.552	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAR2	HGNC	protein_coding	OTTHUMT00000079001.2	241	0.82	2	A	NM_015511		34843539	34843539	+1	no_errors	ENST00000320849	ensembl	human	known	69_37n	missense	250	10.07	28	SNP	1.000	C
ABAT	18	genome.wustl.edu	37	16	8862752	8862752	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:8862752A>C	ENST00000396600.2	+	11	1676	c.738A>C	c.(736-738)gcA>gcC	p.A246A	ABAT_ENST00000268251.8_Silent_p.A246A|ABAT_ENST00000569156.1_Silent_p.A246A|ABAT_ENST00000567812.1_Silent_p.A261A|ABAT_ENST00000425191.2_Silent_p.A246A	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	246					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGCCCATCGCACCGTTCCCAC	0.522																																						dbGAP											0													197.0	189.0	192.0					16																	8862752		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.738A>C	16.37:g.8862752A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.A246	ENST00000396600.2	37	c.738	CCDS10534.1	16																																																																																			ABAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	ENSG00000183044		0.522	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	124	0.80	1	A	NM_020686		8862752	8862752	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	silent	125	16.11	24	SNP	0.025	C
AARS	16	genome.wustl.edu	37	16	70296403	70296403	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:70296403A>C	ENST00000261772.8	-	12	1660	c.1517T>G	c.(1516-1518)gTg>gGg	p.V506G	RN7SL407P_ENST00000583724.1_RNA|AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CAGAGCCATCACCGTAGCCAC	0.517																																						dbGAP											0													112.0	85.0	94.0					16																	70296403		2198	4300	6498	-	-	-	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1517T>G	16.37:g.70296403A>C	ENSP00000261772:p.Val506Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.V506G	ENST00000261772.8	37	c.1517	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958920	0.92726	.	.	ENSG00000090861	ENST00000261772	T	0.76448	-1.02	6.15	6.15	0.99193	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.111595	0.64402	D	0.000009	D	0.92237	0.7538	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.94577	0.7776	10	0.87932	D	0	-24.8122	14.7406	0.69451	1.0:0.0:0.0:0.0	.	514;506	E7ETK8;P49588	.;SYAC_HUMAN	G	506	ENSP00000261772:V506G	ENSP00000261772:V506G	V	-	2	0	AARS	68853904	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	9.273000	0.95719	2.363000	0.80096	0.523000	0.50628	GTG	AARS	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000090861		0.517	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	37	0.00	0	A	NM_001605		70296403	70296403	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	C
ABCA1	19	genome.wustl.edu	37	9	107558363	107558363	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:107558363T>G	ENST00000374736.3	-	39	5747	c.5353A>C	c.(5353-5355)Acc>Ccc	p.T1785P		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1785					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGCACAAAGGTGGCCACGCTG	0.522																																						dbGAP											0													131.0	122.0	125.0					9																	107558363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5353A>C	9.37:g.107558363T>G	ENSP00000363868:p.Thr1785Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1785P	ENST00000374736.3	37	c.5353	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612113	0.87258	.	.	ENSG00000165029	ENST00000374736	D	0.83163	-1.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.94152	0.7406	10	0.72032	D	0.01	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	1785	O95477	ABCA1_HUMAN	P	1785	ENSP00000363868:T1785P	ENSP00000363868:T1785P	T	-	1	0	ABCA1	106598184	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	ACC	ABCA1	-	NULL	ENSG00000165029		0.522	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	264	0.00	0	T	NM_005502		107558363	107558363	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	239	11.72	32	SNP	1.000	G
ABCA1	19	genome.wustl.edu	37	9	107588012	107588012	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:107588012T>G	ENST00000374736.3	-	17	2888	c.2494A>C	c.(2494-2496)Acc>Ccc	p.T832P	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	832					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TAGAGGAAGGTGTCAAACAGC	0.498																																						dbGAP											0													168.0	143.0	151.0					9																	107588012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2494A>C	9.37:g.107588012T>G	ENSP00000363868:p.Thr832Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T832P	ENST00000374736.3	37	c.2494	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264435	0.39995	.	.	ENSG00000165029	ENST00000374736	T	0.76448	-1.02	5.35	-5.42	0.02640	.	0.611640	0.18986	N	0.125757	T	0.72391	0.3454	L	0.49126	1.545	0.58432	D	0.999995	B	0.20261	0.043	B	0.34779	0.189	T	0.60094	-0.7330	10	0.72032	D	0.01	.	14.4212	0.67185	0.0:0.1626:0.0:0.8374	.	832	O95477	ABCA1_HUMAN	P	832	ENSP00000363868:T832P	ENSP00000363868:T832P	T	-	1	0	ABCA1	106627833	0.067000	0.21026	0.660000	0.29694	0.510000	0.34073	-0.119000	0.10676	-0.870000	0.04047	-0.256000	0.11100	ACC	ABCA1	-	NULL	ENSG00000165029		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	198	0.50	1	T	NM_005502		107588012	107588012	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	137	12.66	20	SNP	0.324	G
ABCA12	26154	genome.wustl.edu	37	2	216002878	216002878	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:216002878A>C	ENST00000272895.7	-	1	273	c.54T>G	c.(52-54)ggT>ggG	p.G18G	ABCA12_ENST00000412081.1_Silent_p.G18G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	18					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCTTTTTACACCTAGCCAAT	0.433																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													205.0	211.0	209.0					2																	216002878		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.54T>G	2.37:g.216002878A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G18	ENST00000272895.7	37	c.54	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	342	0.29	1	A	NM_173076		216002878	216002878	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	silent	205	23.22	62	SNP	0.999	C
ABCA12	26154	genome.wustl.edu	37	2	216002897	216002897	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:216002897A>C	ENST00000272895.7	-	1	254	c.35T>G	c.(34-36)gTc>gGc	p.V12G	ABCA12_ENST00000412081.1_Missense_Mutation_p.V12G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	12					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTTTCCAGACCAGGATCTG	0.443																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													195.0	198.0	197.0					2																	216002897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.35T>G	2.37:g.216002897A>C	ENSP00000272895:p.Val12Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V12G	ENST00000272895.7	37	c.35	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704735	0.68615	.	.	ENSG00000144452	ENST00000272895;ENST00000412081	D;D	0.88741	-2.42;-2.42	5.62	5.62	0.85841	.	0.375078	0.23293	N	0.049777	T	0.81370	0.4808	N	0.14661	0.345	0.54753	D	0.999986	P	0.37955	0.612	B	0.37943	0.261	D	0.83931	0.0306	10	0.87932	D	0	.	13.3349	0.60512	1.0:0.0:0.0:0.0	.	12	Q86UK0	ABCAC_HUMAN	G	12	ENSP00000272895:V12G;ENSP00000400231:V12G	ENSP00000272895:V12G	V	-	2	0	ABCA12	215711142	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.212000	0.65225	2.134000	0.65973	0.454000	0.30748	GTC	ABCA12	-	NULL	ENSG00000144452		0.443	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	346	0.00	0	A	NM_173076		216002897	216002897	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	219	12.65	32	SNP	1.000	C
ABCA4	24	genome.wustl.edu	37	1	94543384	94543384	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:94543384A>C	ENST00000370225.3	-	11	1502	c.1416T>G	c.(1414-1416)ggT>ggG	p.G472G	ABCA4_ENST00000535735.1_Silent_p.G472G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	472					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGCAGTAATACCTTCTTCAC	0.463																																						dbGAP											0													168.0	162.0	164.0					1																	94543384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1416T>G	1.37:g.94543384A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.G472	ENST00000370225.3	37	c.1416	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.463	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	471	0.84	4	A	NM_000350		94543384	94543384	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	silent	252	17.53	54	SNP	0.007	C
ABCA4	24	genome.wustl.edu	37	1	94543393	94543393	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:94543393A>C	ENST00000370225.3	-	11	1493	c.1407T>G	c.(1405-1407)ggT>ggG	p.G469G	ABCA4_ENST00000535735.1_Silent_p.G469G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	469					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TACCTTCTTCACCAAGCTGCC	0.473																																						dbGAP											0													156.0	152.0	153.0					1																	94543393		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1407T>G	1.37:g.94543393A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.G469	ENST00000370225.3	37	c.1407	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	464	0.43	2	A	NM_000350		94543393	94543393	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	silent	254	16.07	49	SNP	0.996	C
ABCA6	23460	genome.wustl.edu	37	17	67079433	67079433	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:67079433A>C	ENST00000284425.2	-	35	4569	c.4395T>G	c.(4393-4395)ggT>ggG	p.G1465G	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1465	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCAGGAGGACACCTCTCTCTG	0.478																																						dbGAP											0													95.0	80.0	85.0					17																	67079433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4395T>G	17.37:g.67079433A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1465	ENST00000284425.2	37	c.4395	CCDS11683.1	17																																																																																			ABCA6	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.478	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	266	0.75	2	A	NM_080284		67079433	67079433	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	silent	175	14.56	30	SNP	0.021	C
ABCA9	10350	genome.wustl.edu	37	17	67022599	67022599	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:67022599A>C	ENST00000340001.4	-	16	2271	c.2060T>G	c.(2059-2061)gTg>gGg	p.V687G	ABCA9_ENST00000453985.2_Missense_Mutation_p.V687G|ABCA9_ENST00000370732.2_Missense_Mutation_p.V687G	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	687	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGATATGAACACCTTCCTGTC	0.368																																						dbGAP											0													186.0	178.0	181.0					17																	67022599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2060T>G	17.37:g.67022599A>C	ENSP00000342216:p.Val687Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V687G	ENST00000340001.4	37	c.2060	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219654	0.39201	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.62639	0.01;0.01	5.43	3.23	0.37069	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.43579	D	0.000551	T	0.62478	0.2431	N	0.25789	0.76	0.58432	D	0.999991	D;B	0.71674	0.998;0.253	D;B	0.70487	0.969;0.161	T	0.58781	-0.7576	10	0.41790	T	0.15	.	7.3679	0.26783	0.6729:0.0:0.3271:0.0	.	687;687	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	687;670;687;682	ENSP00000342216:V687G;ENSP00000359767:V687G	ENSP00000342216:V687G	V	-	2	0	ABCA9	64534194	1.000000	0.71417	0.999000	0.59377	0.298000	0.27526	3.925000	0.56484	0.462000	0.27095	-0.250000	0.11733	GTG	ABCA9	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154258		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	357	0.00	0	A	NM_172386		67022599	67022599	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	218	24.83	72	SNP	1.000	C
ABCA9	10350	genome.wustl.edu	37	17	67041460	67041460	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:67041460A>C	ENST00000340001.4	-	4	533	c.322T>G	c.(322-324)Tgg>Ggg	p.W108G	ABCA9_ENST00000453985.2_Missense_Mutation_p.W108G|ABCA9_ENST00000370732.2_Missense_Mutation_p.W108G|ABCA9_ENST00000495634.1_Missense_Mutation_p.W108G	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	108					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCATCAGGCCACCCCATGATT	0.358																																						dbGAP											0													142.0	135.0	137.0					17																	67041460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.322T>G	17.37:g.67041460A>C	ENSP00000342216:p.Trp108Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W108G	ENST00000340001.4	37	c.322	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	A	8.265	0.812112	0.16537	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86865	-2.18;-2.18	4.39	1.97	0.26223	.	1.579670	0.04050	U	0.304625	D	0.82733	0.5101	L	0.51422	1.61	0.09310	N	0.999997	B;B	0.18166	0.026;0.004	B;B	0.12156	0.004;0.007	T	0.65590	-0.6131	10	0.46703	T	0.11	.	3.3685	0.07212	0.6912:0.0:0.1093:0.1995	.	108;108	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	108;91;108;103	ENSP00000342216:W108G;ENSP00000359767:W108G	ENSP00000342216:W108G	W	-	1	0	ABCA9	64553055	0.000000	0.05858	0.882000	0.34594	0.857000	0.48899	0.029000	0.13666	0.818000	0.34468	0.482000	0.46254	TGG	ABCA9	-	NULL	ENSG00000154258		0.358	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	168	0.00	0	A	NM_172386		67041460	67041460	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	134	18.29	30	SNP	0.586	C
ABCA6	23460	genome.wustl.edu	37	17	67080464	67080464	+	Silent	SNP	T	T	G	rs201306793		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:67080464T>G	ENST00000284425.2	-	34	4467	c.4293A>C	c.(4291-4293)tcA>tcC	p.S1431S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1431	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAAGACAGGTGAGTTTCCCA	0.522																																						dbGAP											0													148.0	135.0	140.0					17																	67080464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4293A>C	17.37:g.67080464T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1431	ENST00000284425.2	37	c.4293	CCDS11683.1	17																																																																																			ABCA6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.522	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	552	0.18	1	T	NM_080284		67080464	67080464	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	silent	435	15.64	81	SNP	0.180	G
ABCB4	5244	genome.wustl.edu	37	7	87037429	87037429	+	Missense_Mutation	SNP	A	A	C	rs368167333		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:87037429A>C	ENST00000265723.4	-	25	3314	c.3203T>G	c.(3202-3204)gTg>gGg	p.V1068G	ABCB4_ENST00000358400.3_Missense_Mutation_p.V1021G|ABCB4_ENST00000359206.3_Missense_Mutation_p.V1068G|ABCB4_ENST00000545634.1_Missense_Mutation_p.V1068G|ABCB4_ENST00000453593.1_Missense_Mutation_p.V1021G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1068	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACTGCTGCCCACCAGGGCTAG	0.567																																						dbGAP											0													83.0	82.0	82.0					7																	87037429		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3203T>G	7.37:g.87037429A>C	ENSP00000265723:p.Val1068Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V1068G	ENST00000265723.4	37	c.3203	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747990	0.89663	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.19	5.19	0.71726	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.126193	0.53938	D	0.000055	D	0.98033	0.9352	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99620	1.0983	10	0.87932	D	0	-14.4347	15.3491	0.74368	1.0:0.0:0.0:0.0	.	1021;1068;1068	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	G	1068;1021;1068;1021;1068	ENSP00000352135:V1068G;ENSP00000351172:V1021G;ENSP00000265723:V1068G;ENSP00000392983:V1021G;ENSP00000437465:V1068G	ENSP00000265723:V1068G	V	-	2	0	ABCB4	86875365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.231000	0.95317	2.083000	0.62718	0.533000	0.62120	GTG	ABCB4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000005471		0.567	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	199	1.00	2	A	NM_000443		87037429	87037429	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	missense	204	14.58	35	SNP	1.000	C
ABCB1	5243	genome.wustl.edu	37	7	87183121	87183121	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:87183121T>G	ENST00000265724.3	-	10	1372	c.955A>C	c.(955-957)Acc>Ccc	p.T319P	ABCB1_ENST00000543898.1_Missense_Mutation_p.T255P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	319	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGGACCAAGGTGGTCCCATAC	0.393																																						dbGAP											0													147.0	138.0	141.0					7																	87183121		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.955A>C	7.37:g.87183121T>G	ENSP00000265724:p.Thr319Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T319P	ENST00000265724.3	37	c.955	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296217	0.40594	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90261	-2.64;-2.64	5.31	-1.08	0.09936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.266047	0.41938	D	0.000789	D	0.88786	0.6531	M	0.86268	2.805	0.24492	N	0.994294	B;B	0.31949	0.348;0.006	B;B	0.20577	0.022;0.03	T	0.81493	-0.0908	10	0.52906	T	0.07	-3.2535	13.9513	0.64118	0.1651:0.0:0.0:0.8349	.	255;319	B5AK60;P08183	.;MDR1_HUMAN	P	100;319;255	ENSP00000265724:T319P;ENSP00000444095:T255P	ENSP00000265724:T319P	T	-	1	0	ABCB1	87021057	0.092000	0.21681	0.134000	0.22075	0.726000	0.41606	0.777000	0.26718	0.020000	0.15106	0.477000	0.44152	ACC	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000085563		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	411	0.24	1	T	NM_000927		87183121	87183121	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	missense	303	10.32	35	SNP	0.327	G
ABCB7	22	genome.wustl.edu	37	X	74289282	74289282	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:74289282A>C	ENST00000373394.3	-	11	1380	c.1373T>G	c.(1372-1374)gTg>gGg	p.V458G	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V418G|ABCB7_ENST00000253577.3_Missense_Mutation_p.V459G			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	458					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AGATGCCATCACTTTGTCCTA	0.418																																						dbGAP											0													85.0	76.0	79.0					X																	74289282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1373T>G	X.37:g.74289282A>C	ENSP00000362492:p.Val458Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V459G	ENST00000373394.3	37	c.1376		X	.	.	.	.	.	.	.	.	.	.	A	11.74	1.729811	0.30684	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.87809	-2.3;-2.29;-2.3;-2.3	5.31	-10.6	0.00265	ABC transporter, transmembrane domain, type 1 (1);	0.707211	0.14336	N	0.326055	T	0.62196	0.2408	N	0.02960	-0.455	0.30832	N	0.73666	B;B;B;B;B	0.09022	0.002;0.002;0.001;0.001;0.002	B;B;B;B;B	0.18871	0.02;0.023;0.01;0.017;0.023	T	0.50389	-0.8834	10	0.72032	D	0.01	-39.6993	7.2642	0.26219	0.4113:0.0:0.3514:0.2372	.	432;418;459;458;459	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	G	432;459;418;458;432	ENSP00000253577:V459G;ENSP00000343849:V418G;ENSP00000362492:V458G;ENSP00000436586:V432G	ENSP00000253577:V459G	V	-	2	0	ABCB7	74206007	0.006000	0.16342	0.153000	0.22517	0.774000	0.43823	0.103000	0.15292	-2.253000	0.00698	0.486000	0.48141	GTG	ABCB7	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000131269		0.418	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	152	0.65	1	A	NM_004299		74289282	74289282	-1	no_errors	ENST00000253577	ensembl	human	known	69_37n	missense	117	13.97	19	SNP	0.012	C
ABCC10	89845	genome.wustl.edu	37	6	43413383	43413383	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43413383A>C	ENST00000372530.4	+	15	3292	c.3077A>C	c.(3076-3078)aAc>aCc	p.N1026T	ABCC10_ENST00000244533.3_Missense_Mutation_p.N998T	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1026	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CGGATCCTAAACCGCTTCTCC	0.627																																						dbGAP											0													81.0	75.0	77.0					6																	43413383		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3077A>C	6.37:g.43413383A>C	ENSP00000361608:p.Asn1026Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.N1026T	ENST00000372530.4	37	c.3077	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529327	0.85706	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.88896	-2.44;-2.44	5.68	4.45	0.53987	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94305	0.7540	10	0.87932	D	0	-13.6757	12.481	0.55842	0.8605:0.1395:0.0:0.0	.	998;1026	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	T	1026;998	ENSP00000361608:N1026T;ENSP00000244533:N998T	ENSP00000244533:N998T	N	+	2	0	ABCC10	43521361	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.315000	0.78998	2.158000	0.67659	0.528000	0.53228	AAC	ABCC10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000124574		0.627	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	109	0.00	0	A	NM_033450		43413383	43413383	+1	no_errors	ENST00000372530	ensembl	human	known	69_37n	missense	91	15.74	17	SNP	1.000	C
ABCC12	94160	genome.wustl.edu	37	16	48175229	48175229	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:48175229A>C	ENST00000311303.3	-	3	656	c.311T>G	c.(310-312)gTg>gGg	p.V104G	ABCC12_ENST00000416054.1_Missense_Mutation_p.V104G|ABCC12_ENST00000448542.1_Missense_Mutation_p.V104G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	104						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCAGGACCCACCCTTGCTAC	0.493																																						dbGAP											0													117.0	101.0	107.0					16																	48175229		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.311T>G	16.37:g.48175229A>C	ENSP00000311030:p.Val104Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V104G	ENST00000311303.3	37	c.311	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	A	10.23	1.294255	0.23564	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.45	3.19	0.36642	ABC transporter, transmembrane domain, type 1 (1);	0.362569	0.28760	N	0.014226	T	0.33059	0.0850	M	0.64567	1.98	0.51482	D	0.99992	P;B	0.38370	0.628;0.044	B;B	0.42798	0.398;0.039	T	0.08973	-1.0696	10	0.21540	T	0.41	.	3.2483	0.06804	0.643:0.1437:0.0755:0.1378	.	104;104	Q96J65-2;Q96J65	.;MRP9_HUMAN	G	104	ENSP00000311030:V104G;ENSP00000401855:V104G;ENSP00000413046:V104G;ENSP00000436647:V104G	ENSP00000311030:V104G	V	-	2	0	ABCC12	46732730	0.001000	0.12720	0.017000	0.16124	0.302000	0.27658	1.464000	0.35288	0.441000	0.26529	0.460000	0.39030	GTG	ABCC12	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000140798		0.493	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	99	0.00	0	A	NM_033226		48175229	48175229	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	missense	106	18.32	24	SNP	0.556	C
ABCC12	94160	genome.wustl.edu	37	16	48177908	48177908	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:48177908A>C	ENST00000311303.3	-	2	533	c.188T>G	c.(187-189)gTg>gGg	p.V63G	ABCC12_ENST00000416054.1_Missense_Mutation_p.V63G|ABCC12_ENST00000448542.1_Missense_Mutation_p.V63G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	63						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTCACCATCACCGGCGTGAG	0.552																																						dbGAP											0													114.0	96.0	102.0					16																	48177908		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.188T>G	16.37:g.48177908A>C	ENSP00000311030:p.Val63Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V63G	ENST00000311303.3	37	c.188	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959509	0.34565	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	6.17	5.09	0.68999	.	0.568240	0.19463	N	0.113645	D	0.84656	0.5520	L	0.57536	1.79	0.58432	D	0.99999	B;B	0.26672	0.156;0.011	B;B	0.25614	0.062;0.028	T	0.81918	-0.0713	10	0.87932	D	0	.	11.4799	0.50320	0.9294:0.0:0.0706:0.0	.	63;63	Q96J65-2;Q96J65	.;MRP9_HUMAN	G	63	ENSP00000311030:V63G;ENSP00000401855:V63G;ENSP00000413046:V63G;ENSP00000436647:V63G	ENSP00000311030:V63G	V	-	2	0	ABCC12	46735409	0.985000	0.35326	0.655000	0.29622	0.015000	0.08874	5.263000	0.65507	1.161000	0.42604	0.533000	0.62120	GTG	ABCC12	-	NULL	ENSG00000140798		0.552	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	124	0.00	0	A	NM_033226		48177908	48177908	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	missense	141	12.96	21	SNP	0.976	C
ABCC11	85320	genome.wustl.edu	37	16	48265807	48265807	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:48265807A>C	ENST00000394747.1	-	1	375	c.26T>G	c.(25-27)gTg>gGg	p.V9G	ABCC11_ENST00000356608.2_Missense_Mutation_p.V9G|ABCC11_ENST00000353782.5_Missense_Mutation_p.V9G|ABCC11_ENST00000537808.1_Missense_Mutation_p.V9G|ABCC11_ENST00000394748.1_Missense_Mutation_p.V9G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	9					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGAGTTGGGCACCCAGTATGT	0.443																																						dbGAP											0													286.0	235.0	252.0					16																	48265807		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.26T>G	16.37:g.48265807A>C	ENSP00000378230:p.Val9Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V9G	ENST00000394747.1	37	c.26	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196996	0.38806	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92805	-2.92;-2.83;-2.83;-2.83;-3.11	5.2	1.64	0.23874	.	0.490309	0.16876	N	0.195901	D	0.83691	0.5309	L	0.41236	1.265	0.19300	N	0.999976	B;B	0.13594	0.008;0.005	B;B	0.16289	0.015;0.006	T	0.67389	-0.5683	10	0.26408	T	0.33	-19.538	1.3298	0.02132	0.5278:0.1998:0.1037:0.1688	.	9;9	Q96J66-2;Q96J66	.;ABCCB_HUMAN	G	9	ENSP00000311326:V9G;ENSP00000349017:V9G;ENSP00000378231:V9G;ENSP00000378230:V9G;ENSP00000438530:V9G	ENSP00000311326:V9G	V	-	2	0	ABCC11	46823308	0.002000	0.14202	0.061000	0.19648	0.788000	0.44548	0.438000	0.21559	0.824000	0.34613	0.523000	0.50628	GTG	ABCC11	-	NULL	ENSG00000121270		0.443	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	276	0.00	0	A	NM_032583		48265807	48265807	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	missense	199	11.16	25	SNP	0.077	C
ABCC3	8714	genome.wustl.edu	37	17	48735473	48735473	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:48735473A>C	ENST00000285238.8	+	5	597	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	ABCC3_ENST00000427699.1_Missense_Mutation_p.T173P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	173					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCGCTTCACCACCTTCTACAT	0.587																																						dbGAP											0													216.0	205.0	209.0					17																	48735473		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.517A>C	17.37:g.48735473A>C	ENSP00000285238:p.Thr173Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.T173P	ENST00000285238.8	37	c.517	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925774	0.73213	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.47869	0.83;0.83	5.68	5.68	0.88126	.	0.059339	0.64402	D	0.000003	T	0.58018	0.2093	M	0.83118	2.625	0.80722	D	1	B;B	0.34200	0.034;0.441	B;B	0.39562	0.025;0.303	T	0.61471	-0.7056	10	0.48119	T	0.1	-41.8921	15.5969	0.76590	1.0:0.0:0.0:0.0	.	173;173	O15438;O15438-5	MRP3_HUMAN;.	P	173	ENSP00000395160:T173P;ENSP00000285238:T173P	ENSP00000285238:T173P	T	+	1	0	ABCC3	46090472	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	6.898000	0.75676	2.157000	0.67596	0.459000	0.35465	ACC	ABCC3	-	tigrfam_Multidrug-R_assoc	ENSG00000108846		0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	135	0.00	0	A	NM_020038		48735473	48735473	+1	no_errors	ENST00000285238	ensembl	human	known	69_37n	missense	86	14.71	15	SNP	1.000	C
ABCC3	8714	genome.wustl.edu	37	17	48755175	48755175	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:48755175A>C	ENST00000285238.8	+	24	3529	c.3449A>C	c.(3448-3450)cAc>cCc	p.H1150P		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1150	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ATCTACTCCCACTTTTCGGAG	0.547																																						dbGAP											0													138.0	141.0	140.0					17																	48755175		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3449A>C	17.37:g.48755175A>C	ENSP00000285238:p.His1150Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.H1150P	ENST00000285238.8	37	c.3449	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369278	0.82463	.	.	ENSG00000108846	ENST00000285238	D	0.90444	-2.67	5.7	4.63	0.57726	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.054027	0.64402	D	0.000001	D	0.96697	0.8922	H	0.97315	3.98	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.96750	0.9553	10	0.87932	D	0	-25.942	11.6098	0.51053	0.9306:0.0:0.0694:0.0	.	1150	O15438	MRP3_HUMAN	P	1150	ENSP00000285238:H1150P	ENSP00000285238:H1150P	H	+	2	0	ABCC3	46110174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.253000	0.72453	0.995000	0.38917	0.533000	0.62120	CAC	ABCC3	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000108846		0.547	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	209	0.95	2	A	NM_020038		48755175	48755175	+1	no_errors	ENST00000285238	ensembl	human	known	69_37n	missense	222	16.10	43	SNP	1.000	C
ABCC9	10060	genome.wustl.edu	37	12	22035767	22035767	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:22035767T>G	ENST00000261201.4	-	14	1951	c.1952A>C	c.(1951-1953)cAc>cCc	p.H651P	ABCC9_ENST00000261200.4_Missense_Mutation_p.H651P|ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	651					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCTGTCCAGGTGATATCTTCC	0.378																																						dbGAP											0													191.0	152.0	165.0					12																	22035767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1952A>C	12.37:g.22035767T>G	ENSP00000261201:p.His651Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H651P	ENST00000261201.4	37	c.1952	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041588	0.55003	.	.	ENSG00000069431	ENST00000261200;ENST00000261201	D;D	0.92048	-2.94;-2.96	5.2	5.2	0.72013	.	0.258863	0.40818	N	0.001017	D	0.84220	0.5424	N	0.08118	0	0.80722	D	1	B;B	0.17465	0.004;0.022	B;B	0.21708	0.003;0.036	T	0.80511	-0.1350	10	0.46703	T	0.11	-15.1695	14.7522	0.69533	0.0:0.0:0.0:1.0	.	651;651	O60706;O60706-2	ABCC9_HUMAN;.	P	651	ENSP00000261200:H651P;ENSP00000261201:H651P	ENSP00000261200:H651P	H	-	2	0	ABCC9	21927034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.419000	0.73345	1.971000	0.57363	0.528000	0.53228	CAC	ABCC9	-	NULL	ENSG00000069431		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	297	0.34	1	T	NM_005691		22035767	22035767	-1	no_errors	ENST00000261200	ensembl	human	known	69_37n	missense	213	10.50	25	SNP	1.000	G
ABCD2	225	genome.wustl.edu	37	12	40001488	40001488	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:40001488A>C	ENST00000308666.3	-	3	1284	c.1149T>G	c.(1147-1149)agT>agG	p.S383R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	383	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CTGTCCGTTCACTAACCATAA	0.323																																						dbGAP											0													85.0	89.0	87.0					12																	40001488		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1149T>G	12.37:g.40001488A>C	ENSP00000310688:p.Ser383Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S383R	ENST00000308666.3	37	c.1149	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631841	0.67015	.	.	ENSG00000173208	ENST00000308666	D	0.97505	-4.41	5.24	2.89	0.33648	.	0.046453	0.85682	D	0.000000	D	0.97835	0.9289	M	0.79926	2.475	0.51233	D	0.999916	D	0.76494	0.999	D	0.74023	0.982	D	0.96625	0.9462	9	.	.	.	-9.9611	8.7874	0.34830	0.8441:0.0:0.1559:0.0	.	383	Q9UBJ2	ABCD2_HUMAN	R	383	ENSP00000310688:S383R	.	S	-	3	2	ABCD2	38287755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.845000	0.39279	0.335000	0.23614	0.460000	0.39030	AGT	ABCD2	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000173208		0.323	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	111	0.89	1	A	NM_005164		40001488	40001488	-1	no_errors	ENST00000308666	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	1.000	C
ABCF1	23	genome.wustl.edu	37	6	30558154	30558154	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30558154T>G	ENST00000326195.8	+	24	2482	c.2370T>G	c.(2368-2370)ggT>ggG	p.G790G	ABCF1_ENST00000376545.3_Splice_Site_p.G752G|ABCF1_ENST00000396515.4_Splice_Site_p.G183G	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	790	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AATACAAGGGTGGTAAGTCAG	0.498																																						dbGAP											0													123.0	123.0	123.0					6																	30558154		1511	2709	4220	-	-	-	SO:0001630	splice_region_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2371+1T>G	6.37:g.30558154T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C541G	ENST00000326195.8	37	c.1621	CCDS34380.1	6																																																																																			ABCF1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000204574		0.498	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	258	0.00	0	T		Silent	30558154	30558154	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000475993	ensembl	human	known	69_37n	missense	190	17.95	42	SNP	0.921	G
ABCF3	55324	genome.wustl.edu	37	3	183906772	183906772	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:183906772A>C	ENST00000429586.2	+	9	1158	c.973A>C	c.(973-975)Acc>Ccc	p.T325P	ABCF3_ENST00000292808.5_Missense_Mutation_p.T319P|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	325	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGCAGCCCACCCGGTGAGT	0.512																																						dbGAP											0													116.0	120.0	118.0					3																	183906772		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.973A>C	3.37:g.183906772A>C	ENSP00000411471:p.Thr325Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T325P	ENST00000429586.2	37	c.973	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022245	0.75275	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.93426	-3.22;-3.22	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.993	D	0.96415	0.9307	10	0.87932	D	0	-23.4489	14.2843	0.66235	1.0:0.0:0.0:0.0	.	319;325	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	P	325;319	ENSP00000411471:T325P;ENSP00000292808:T319P	ENSP00000292808:T319P	T	+	1	0	ABCF3	185389466	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	8.250000	0.89835	1.970000	0.57323	0.460000	0.39030	ACC	ABCF3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000161204		0.512	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	89	0.00	0	A	NM_018358		183906772	183906772	+1	no_errors	ENST00000429586	ensembl	human	known	69_37n	missense	120	15.86	23	SNP	1.000	C
ABCG4	64137	genome.wustl.edu	37	11	119029277	119029277	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:119029277A>C	ENST00000449422.2	+	11	1366	c.1178A>C	c.(1177-1179)cAc>cCc	p.H393P	AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Missense_Mutation_p.H393P|ABCG4_ENST00000307417.3_Missense_Mutation_p.H393P	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	393	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTCCTGACCCACCTACGGTTC	0.582																																						dbGAP											0													208.0	188.0	195.0					11																	119029277		2200	4295	6495	-	-	-	SO:0001583	missense	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1178A>C	11.37:g.119029277A>C	ENSP00000406874:p.His393Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H393P	ENST00000449422.2	37	c.1178	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835577	0.71373	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.71698	-0.59;-0.59;-0.59	5.62	5.62	0.85841	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.83156	-0.0101	10	0.52906	T	0.07	-23.5324	15.4765	0.75485	1.0:0.0:0.0:0.0	.	393	Q9H172	ABCG4_HUMAN	P	393	ENSP00000304111:H393P;ENSP00000406874:H393P;ENSP00000434318:H393P	ENSP00000304111:H393P	H	+	2	0	ABCG4	118534487	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	9.332000	0.96446	2.126000	0.65437	0.528000	0.53228	CAC	ABCG4	-	pfam_ABC_2_trans	ENSG00000172350		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	163	0.61	1	A	NM_022169		119029277	119029277	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	missense	129	15.13	23	SNP	1.000	C
ABCG4	64137	genome.wustl.edu	37	11	119031329	119031329	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:119031329A>C	ENST00000449422.2	+	14	1866	c.1678A>C	c.(1678-1680)Act>Cct	p.T560P	ABCG4_ENST00000531739.1_Missense_Mutation_p.T560P|ABCG4_ENST00000307417.3_Missense_Mutation_p.T560P	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	560	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GACCATCCCCACTTACCTGCA	0.587																																						dbGAP											0													227.0	214.0	219.0					11																	119031329		2200	4295	6495	-	-	-	SO:0001583	missense	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1678A>C	11.37:g.119031329A>C	ENSP00000406874:p.Thr560Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T560P	ENST00000449422.2	37	c.1678	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261962	0.39995	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.71341	-0.56;-0.56;-0.56	5.49	4.29	0.51040	ABC-2 type transporter (1);	0.186128	0.56097	D	0.000025	T	0.45418	0.1341	N	0.03177	-0.4	0.38985	D	0.959022	B	0.06786	0.001	B	0.11329	0.006	T	0.43310	-0.9399	10	0.20519	T	0.43	-7.5459	11.9535	0.52968	0.855:0.145:0.0:0.0	.	560	Q9H172	ABCG4_HUMAN	P	560	ENSP00000304111:T560P;ENSP00000406874:T560P;ENSP00000434318:T560P	ENSP00000304111:T560P	T	+	1	0	ABCG4	118536539	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.383000	0.59600	2.105000	0.64084	0.456000	0.33151	ACT	ABCG4	-	pfam_ABC_2_trans	ENSG00000172350		0.587	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	197	0.51	1	A	NM_022169		119031329	119031329	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	missense	139	15.24	25	SNP	0.999	C
ABL2	27	genome.wustl.edu	37	1	179081525	179081525	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:179081525A>C	ENST00000502732.1	-	10	1773	c.1570T>G	c.(1570-1572)Tgg>Ggg	p.W524G	ABL2_ENST00000504405.1_Missense_Mutation_p.W488G|ABL2_ENST00000344730.3_Missense_Mutation_p.W509G|ABL2_ENST00000392043.3_Missense_Mutation_p.W503G|ABL2_ENST00000408940.3_Missense_Mutation_p.W488G|ABL2_ENST00000511413.1_Missense_Mutation_p.W524G|ABL2_ENST00000512653.1_Missense_Mutation_p.W509G|ABL2_ENST00000367623.4_Missense_Mutation_p.W503G|ABL2_ENST00000507173.1_Missense_Mutation_p.W503G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCAGGGCTCCACTTCCAGCCT	0.398			T	ETV6	AML																																	dbGAP		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													82.0	80.0	81.0					1																	179081525		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1570T>G	1.37:g.179081525A>C	ENSP00000427562:p.Trp524Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.W524G	ENST00000502732.1	37	c.1570	CCDS30947.1	1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173430	0.57584	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000143	T	0.53769	0.1817	N	0.03029	-0.43	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.949;0.949;0.949;0.967;0.991;0.977;0.991;0.985	T	0.67019	-0.5776	10	0.54805	T	0.06	.	14.4299	0.67243	1.0:0.0:0.0:0.0	.	503;503;524;488;503;524;509;488;509	P42684-6;P42684-7;P42684-5;P42684-4;P42684-8;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;ABL2_HUMAN;.;.;.	G	524;488;509;509;488;503;503;524;503	ENSP00000427562:W524G;ENSP00000386152:W488G;ENSP00000339209:W509G;ENSP00000423578:W509G;ENSP00000426831:W488G;ENSP00000356595:W503G;ENSP00000423413:W503G;ENSP00000424697:W524G;ENSP00000375897:W503G	ENSP00000339209:W509G	W	-	1	0	ABL2	177348148	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.287000	0.95975	2.068000	0.61886	0.459000	0.35465	TGG	ABL2	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000143322		0.398	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	61	0.00	0	A	NM_005158		179081525	179081525	-1	no_errors	ENST00000502732	ensembl	human	known	69_37n	missense	109	16.79	22	SNP	1.000	C
ABLIM3	22885	genome.wustl.edu	37	5	148577935	148577935	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:148577935A>C	ENST00000506113.1	+	3	787	c.305A>C	c.(304-306)cAc>cCc	p.H102P	ABLIM3_ENST00000508983.1_Missense_Mutation_p.H102P|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.H102P|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.H102P|ABLIM3_ENST00000356541.3_Missense_Mutation_p.H102P|ABLIM3_ENST00000504238.1_Missense_Mutation_p.H102P			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	102	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACTTACCACCCCAAGTGC	0.627																																						dbGAP											0													49.0	45.0	47.0					5																	148577935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.305A>C	5.37:g.148577935A>C	ENSP00000425394:p.His102Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.H102P	ENST00000506113.1	37	c.305	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666534	0.88251	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.06	5.06	0.68205	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.99719	4.725	0.80722	D	1	D;D;D	0.89917	0.996;0.996;1.0	D;D;D	0.91635	0.988;0.989;0.999	D	0.98725	1.0710	10	0.87932	D	0	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	102;102;102	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	P	102	ENSP00000315841:H102P;ENSP00000348938:H102P;ENSP00000310309:H102P;ENSP00000425394:H102P;ENSP00000421183:H102P;ENSP00000420855:H102P	ENSP00000310309:H102P	H	+	2	0	ABLIM3	148558128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.043000	0.60533	0.454000	0.30748	CAC	ABLIM3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000173210		0.627	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	83	0.00	0	A	NM_014945		148577935	148577935	+1	no_errors	ENST00000309868	ensembl	human	known	69_37n	missense	404	26.17	145	SNP	1.000	C
ABR	29	genome.wustl.edu	37	17	1003974	1003974	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:1003974A>C	ENST00000302538.5	-	3	394	c.248T>G	c.(247-249)gTg>gGg	p.V83G	ABR_ENST00000291107.2_Splice_Site_p.V46G|ABR_ENST00000574437.1_Splice_Site_p.V37G|ABR_ENST00000544583.2_Splice_Site_p.V37G	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	83					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCCTGCTTCCACCTGCACAAA	0.567																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													156.0	133.0	141.0					17																	1003974		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.247-1T>G	17.37:g.1003974A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.V83G	ENST00000302538.5	37	c.248	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	A	9.317	1.057114	0.19907	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107	T;T;T	0.29397	1.57;1.57;1.57	4.71	4.71	0.59529	Dbl homology (DH) domain (1);	0.181996	0.33691	N	0.004650	T	0.18759	0.0450	N	0.22421	0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.07578	-1.0765	10	0.20519	T	0.43	.	9.2442	0.37515	0.6937:0.3063:0.0:0.0	.	37;46;83	B3KW89;Q12979-2;Q12979	.;.;ABR_HUMAN	G	83;37;46	ENSP00000303909:V83G;ENSP00000442048:V37G;ENSP00000291107:V46G	ENSP00000291107:V46G	V	-	2	0	ABR	950724	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	2.444000	0.44890	1.758000	0.51981	0.533000	0.62120	GTG	ABR	-	superfamily_DH-domain	ENSG00000159842		0.567	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	72	0.00	0	A		Missense_Mutation	1003974	1003974	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	1.000	C
ACACB	32	genome.wustl.edu	37	12	109702121	109702121	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:109702121A>C	ENST00000338432.7	+	50	6991	c.6872A>C	c.(6871-6873)cAc>cCc	p.H2291P	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.H2221P|ACACB_ENST00000377848.3_Missense_Mutation_p.H2291P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2291	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCCATCTACCACCAGGTGGCG	0.622											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													68.0	71.0	70.0					12																	109702121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6872A>C	12.37:g.109702121A>C	ENSP00000341044:p.His2291Pro	Somatic	1421	WXS	Illumina GAIIx	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.H2291P	ENST00000338432.7	37	c.6872	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404952	0.62288	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.25749	1.78;1.78;1.78	4.79	3.62	0.41486	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.046368	0.85682	D	0.000000	T	0.51890	0.1701	M	0.88105	2.93	0.80722	D	1	D	0.58620	0.983	D	0.63703	0.917	T	0.56649	-0.7944	10	0.56958	D	0.05	.	10.7315	0.46100	0.9234:0.0:0.0766:0.0	.	2291	O00763	ACACB_HUMAN	P	2291;2291;2221;1522	ENSP00000341044:H2291P;ENSP00000367079:H2291P;ENSP00000367085:H2221P	ENSP00000341044:H2291P	H	+	2	0	ACACB	108186504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.323000	0.72891	0.770000	0.33336	0.533000	0.62120	CAC	ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000076555		0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	105	0.94	1	A	NM_001093		109702121	109702121	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	missense	89	21.05	24	SNP	1.000	C
ACAD10	80724	genome.wustl.edu	37	12	112140024	112140024	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:112140024T>G	ENST00000313698.4	+	3	401	c.246T>G	c.(244-246)ggT>ggG	p.G82G	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.G82G|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Silent_p.G82G	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	82						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGATGGAAGGTGGTGAAAATG	0.403																																						dbGAP											0													172.0	161.0	165.0					12																	112140024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.246T>G	12.37:g.112140024T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.G82	ENST00000313698.4	37	c.246	CCDS31903.1	12																																																																																			ACAD10	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N	ENSG00000111271		0.403	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	123	0.00	0	T	NM_025247		112140024	112140024	+1	no_errors	ENST00000455480	ensembl	human	known	69_37n	silent	149	14.37	25	SNP	0.940	G
ACE2	59272	genome.wustl.edu	37	X	15596418	15596418	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15596418A>C	ENST00000252519.3	-	9	1193	c.1091T>G	c.(1090-1092)gTg>gGg	p.V364G	ACE2_ENST00000427411.1_Missense_Mutation_p.V364G			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	364					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.V364A(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GTCCATTGTCACCTTTGTGCA	0.413																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											84.0	69.0	74.0					X																	15596418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1091T>G	X.37:g.15596418A>C	ENSP00000252519:p.Val364Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.V364G	ENST00000252519.3	37	c.1091	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773431	0.31411	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.47528	0.84;0.84	5.6	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.69584	0.3127	H	0.94925	3.6	0.53688	D	0.99997	D	0.53619	0.961	P	0.54401	0.751	T	0.75900	-0.3154	10	0.87932	D	0	-21.4745	10.8228	0.46614	0.9251:0.0:0.0749:0.0	.	364	Q9BYF1	ACE2_HUMAN	G	364	ENSP00000252519:V364G;ENSP00000389326:V364G	ENSP00000252519:V364G	V	-	2	0	ACE2	15506339	1.000000	0.71417	0.962000	0.40283	0.349000	0.29174	7.510000	0.81708	0.756000	0.33013	-0.342000	0.07992	GTG	ACE2	-	pfam_Peptidase_M2	ENSG00000130234		0.413	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	155	0.00	0	A			15596418	15596418	-1	no_errors	ENST00000252519	ensembl	human	known	69_37n	missense	146	14.62	25	SNP	0.998	C
ACE2	59272	genome.wustl.edu	37	X	15607528	15607528	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15607528A>C	ENST00000252519.3	-	5	737	c.635T>G	c.(634-636)gTa>gGa	p.V212G	ACE2_ENST00000427411.1_Missense_Mutation_p.V212G			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	212					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATAGCCATCTACCCCATTTAC	0.413																																						dbGAP											0													238.0	214.0	222.0					X																	15607528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.635T>G	X.37:g.15607528A>C	ENSP00000252519:p.Val212Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.V212G	ENST00000252519.3	37	c.635	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	A	9.316	1.056897	0.19907	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.32023	1.47;1.47	4.71	-9.42	0.00610	.	1.310890	0.05036	N	0.475498	T	0.20618	0.0496	L	0.44542	1.39	0.09310	N	1	B	0.17268	0.021	B	0.23574	0.047	T	0.11470	-1.0586	10	0.17369	T	0.5	2.5343	7.3947	0.26929	0.1898:0.0:0.2328:0.5774	.	212	Q9BYF1	ACE2_HUMAN	G	212	ENSP00000252519:V212G;ENSP00000389326:V212G	ENSP00000252519:V212G	V	-	2	0	ACE2	15517449	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.150000	0.10189	-3.193000	0.00219	-0.564000	0.04169	GTA	ACE2	-	pfam_Peptidase_M2	ENSG00000130234		0.413	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	390	0.51	2	A			15607528	15607528	-1	no_errors	ENST00000252519	ensembl	human	known	69_37n	missense	358	11.08	45	SNP	0.000	C
ACER2	340485	genome.wustl.edu	37	9	19434959	19434959	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:19434959T>G	ENST00000340967.2	+	4	406	c.380T>G	c.(379-381)gTg>gGg	p.V127G	ACER2_ENST00000380376.1_Missense_Mutation_p.V78G	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	127					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						AGGTTCAAGGTGGTGGTCAGT	0.463																																						dbGAP											0													373.0	316.0	335.0					9																	19434959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.380T>G	9.37:g.19434959T>G	ENSP00000342609:p.Val127Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	pfam_Ceramidase	p.V127G	ENST00000340967.2	37	c.380	CCDS34992.1	9	.	.	.	.	.	.	.	.	.	.	T	9.468	1.094787	0.20471	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.47528	0.84;0.84	5.95	-4.0	0.04057	.	0.552403	0.20609	N	0.089003	T	0.34716	0.0907	L	0.40543	1.245	0.36371	D	0.861315	B	0.22851	0.076	B	0.30179	0.112	T	0.21655	-1.0239	9	.	.	.	.	13.0737	0.59075	0.0:0.4136:0.0:0.5864	.	127	Q5QJU3	ACER2_HUMAN	G	78;127	ENSP00000369735:V78G;ENSP00000342609:V127G	.	V	+	2	0	ACER2	19424959	0.234000	0.23783	0.222000	0.23844	0.753000	0.42808	0.491000	0.22419	-0.560000	0.06102	-0.417000	0.06048	GTG	ACER2	-	pfam_Ceramidase	ENSG00000177076		0.463	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER2	HGNC	protein_coding	OTTHUMT00000051864.1	275	0.00	0	T	XM_294540		19434959	19434959	+1	no_errors	ENST00000340967	ensembl	human	known	69_37n	missense	162	12.83	24	SNP	0.169	G
ACIN1	22985	genome.wustl.edu	37	14	23533682	23533682	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:23533682A>C	ENST00000262710.1	-	11	2825	c.2498T>G	c.(2497-2499)gTg>gGg	p.V833G	ACIN1_ENST00000357481.2_Missense_Mutation_p.V75G|ACIN1_ENST00000557515.1_Missense_Mutation_p.V74G|ACIN1_ENST00000397341.3_Missense_Mutation_p.V75G|ACIN1_ENST00000555053.1_Missense_Mutation_p.V832G|ACIN1_ENST00000605057.1_Missense_Mutation_p.V775G|ACIN1_ENST00000338631.6_Missense_Mutation_p.V106G|ACIN1_ENST00000457657.1_Missense_Mutation_p.V793G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	833					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCAGCTGGCACCCCCTTGGT	0.552																																						dbGAP											0													105.0	110.0	108.0					14																	23533682		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2498T>G	14.37:g.23533682A>C	ENSP00000262710:p.Val833Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.V833G	ENST00000262710.1	37	c.2498	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298273	0.40694	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.16457	3.45;3.32;3.32;2.34;2.35;3.32;3.41	5.4	5.4	0.78164	.	0.000000	0.33980	N	0.004369	T	0.19167	0.0460	L	0.36672	1.1	0.58432	D	0.999996	D;B;B;P;P	0.55385	0.971;0.11;0.11;0.925;0.612	P;B;B;B;B	0.52454	0.699;0.043;0.043;0.421;0.25	T	0.02632	-1.1131	10	0.24483	T	0.36	-11.2619	7.92	0.29839	0.911:0.0:0.089:0.0	.	832;833;793;106;75	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	G	74;106;75;833;793;75;832;75	ENSP00000451138:V74G;ENSP00000345541:V106G;ENSP00000350073:V75G;ENSP00000262710:V833G;ENSP00000405677:V793G;ENSP00000380502:V75G;ENSP00000451328:V832G	ENSP00000262710:V833G	V	-	2	0	ACIN1	22603522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.421000	0.59848	2.270000	0.75569	0.460000	0.39030	GTG	ACIN1	-	NULL	ENSG00000100813		0.552	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	102	0.97	1	A	NM_014977		23533682	23533682	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	missense	139	19.89	35	SNP	0.968	C
ACLY	47	genome.wustl.edu	37	17	40062867	40062867	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:40062867A>C	ENST00000352035.2	-	8	910	c.780T>G	c.(778-780)agT>agG	p.S260R	ACLY_ENST00000393896.2_Missense_Mutation_p.S260R|ACLY_ENST00000590151.1_Missense_Mutation_p.S260R|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Missense_Mutation_p.S260R	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	260	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGCTTGCCCCACTTTTGGCAT	0.612																																					Colon(64;807 1396 15971 30971)	dbGAP											0													132.0	121.0	125.0					17																	40062867		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.780T>G	17.37:g.40062867A>C	ENSP00000253792:p.Ser260Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.S260R	ENST00000352035.2	37	c.780	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980881	0.74474	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	2.25	0.28309	Succinyl-CoA synthetase-like (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.78049	2.395	0.80722	D	1	P;P;D;P	0.60575	0.945;0.889;0.988;0.945	B;B;P;B	0.52031	0.306;0.202;0.688;0.23	T	0.82818	-0.0269	10	0.72032	D	0.01	.	9.0152	0.36166	0.7778:0.0:0.2222:0.0	.	314;314;260;260	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	R	260;314;260;260	ENSP00000253792:S260R;ENSP00000345398:S260R;ENSP00000377474:S260R	ENSP00000253792:S260R	S	-	3	2	ACLY	37316393	0.959000	0.32827	1.000000	0.80357	0.986000	0.74619	0.288000	0.18939	0.506000	0.28125	-0.417000	0.06048	AGT	ACLY	-	superfamily_Succinyl-CoA_synth-like,pirsf_ATP-citrate_synthase	ENSG00000131473		0.612	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	154	0.00	0	A	NM_001096		40062867	40062867	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	missense	222	10.28	26	SNP	1.000	C
ACO1	48	genome.wustl.edu	37	9	32418390	32418390	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:32418390T>G	ENST00000309951.6	+	6	677	c.539T>G	c.(538-540)gTg>gGg	p.V180G	ACO1_ENST00000541043.1_Missense_Mutation_p.V81G|ACO1_ENST00000379923.1_Missense_Mutation_p.V180G	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	180					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		ATCCACCAGGTGAATTTGGAA	0.478																																						dbGAP											0													126.0	129.0	128.0					9																	32418390		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.539T>G	9.37:g.32418390T>G	ENSP00000309477:p.Val180Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.V180G	ENST00000309951.6	37	c.539	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740498	0.89573	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.55052	0.54;0.54;0.54	5.92	5.92	0.95590	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.90792	0.4687	10	0.87932	D	0	-18.2615	15.3607	0.74472	0.0:0.0:0.0:1.0	.	216;180	Q59FI0;P21399	.;ACOC_HUMAN	G	216;180;180;180;81	ENSP00000309477:V180G;ENSP00000369255:V180G;ENSP00000438733:V81G	ENSP00000309477:V180G	V	+	2	0	ACO1	32408390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.277000	0.76020	0.528000	0.53228	GTG	ACO1	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.478	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	174	0.57	1	T	NM_002197		32418390	32418390	+1	no_errors	ENST00000309951	ensembl	human	known	69_37n	missense	156	13.33	24	SNP	1.000	G
ACOT2	10965	genome.wustl.edu	37	14	74042138	74042138	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74042138T>G	ENST00000238651.5	+	3	1555	c.1373T>G	c.(1372-1374)gTg>gGg	p.V458G	ACOT2_ENST00000538782.1_Missense_Mutation_p.V261G	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	458					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		ATGGCTCAGGTGGATGCTTGG	0.537																																						dbGAP											0													14.0	18.0	17.0					14																	74042138		1820	3824	5644	-	-	-	SO:0001583	missense	0			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1373T>G	14.37:g.74042138T>G	ENSP00000238651:p.Val458Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.V458G	ENST00000238651.5	37	c.1373	CCDS9816.1	14	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791587	0.50102	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.42131	1.49;0.98	4.36	3.19	0.36642	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.871328	0.10026	N	0.725304	T	0.59252	0.2180	M	0.79926	2.475	0.51767	D	0.999937	D;D;D	0.71674	0.994;0.994;0.998	P;P;P	0.62491	0.897;0.903;0.897	T	0.54931	-0.8219	10	0.72032	D	0.01	-5.3239	4.2523	0.10700	0.1482:0.1698:0.0:0.682	.	396;458;261	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	G	261;458	ENSP00000440961:V261G;ENSP00000238651:V458G	ENSP00000238651:V458G	V	+	2	0	ACOT2	73111891	0.002000	0.14202	1.000000	0.80357	0.972000	0.66771	0.474000	0.22148	0.536000	0.28733	0.418000	0.28097	GTG	ACOT2	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000119673		0.537	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	73	0.00	0	T	NM_006821		74042138	74042138	+1	no_errors	ENST00000238651	ensembl	human	known	69_37n	missense	38	27.78	15	SNP	0.975	G
ACOX1	51	genome.wustl.edu	37	17	73946910	73946910	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:73946910T>G	ENST00000301608.4	-	9	1303	c.1243A>C	c.(1243-1245)Acc>Ccc	p.T415P	ACOX1_ENST00000293217.5_Missense_Mutation_p.T415P|ACOX1_ENST00000537812.1_Missense_Mutation_p.T377P	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	415					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CAGCTTGGGGTGAAATTGACA	0.468																																						dbGAP											0													123.0	108.0	113.0					17																	73946910		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1243A>C	17.37:g.73946910T>G	ENSP00000301608:p.Thr415Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.T415P	ENST00000301608.4	37	c.1243	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	T	33	5.211126	0.95069	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69926	-0.44;-0.44;-0.44	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.987;0.996	D;D;P;D	0.81914	0.988;0.995;0.866;0.937	D	0.86623	0.1880	10	0.66056	D	0.02	-31.5411	16.5764	0.84681	0.0:0.0:0.0:1.0	.	347;377;415;415	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	P	415;415;377;415;347	ENSP00000301608:T415P;ENSP00000293217:T415P;ENSP00000441257:T377P	ENSP00000293217:T415P	T	-	1	0	ACOX1	71458505	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	7.879000	0.87236	2.371000	0.80710	0.533000	0.62120	ACC	ACOX1	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.468	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	46	0.00	0	T			73946910	73946910	-1	no_errors	ENST00000293217	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	G
ACOX2	8309	genome.wustl.edu	37	3	58519184	58519184	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:58519184A>C	ENST00000302819.5	-	5	862	c.571T>G	c.(571-573)Tgg>Ggg	p.W191G	ACOX2_ENST00000459701.2_Missense_Mutation_p.W191G	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	191					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCCAGGCCACCATTTGGTG	0.542											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													153.0	154.0	153.0					3																	58519184		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.571T>G	3.37:g.58519184A>C	ENSP00000307697:p.Trp191Gly	Somatic	1031	WXS	Illumina GAIIx	Phase_IV	A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.W191G	ENST00000302819.5	37	c.571	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	A	20.1	3.941041	0.73557	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	D;D	0.96334	-3.98;-3.98	4.85	4.85	0.62838	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.094629	0.47852	N	0.000214	D	0.98982	0.9653	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99004	1.0812	10	0.87932	D	0	0.0235	14.4157	0.67148	1.0:0.0:0.0:0.0	.	191	Q99424	ACOX2_HUMAN	G	191	ENSP00000418562:W191G;ENSP00000307697:W191G	ENSP00000307697:W191G	W	-	1	0	ACOX2	58494224	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.155000	0.89643	1.949000	0.56562	0.459000	0.35465	TGG	ACOX2	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.542	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	102	0.00	0	A			58519184	58519184	-1	no_errors	ENST00000302819	ensembl	human	known	69_37n	missense	104	17.97	23	SNP	1.000	C
ACP6	51205	genome.wustl.edu	37	1	147126385	147126385	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:147126385A>C	ENST00000369238.6	-	6	1151	c.704T>G	c.(703-705)gTg>gGg	p.V235G	ACP6_ENST00000392988.2_Missense_Mutation_p.V235G	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	235					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CCTGTCCTTCACCTTTTTCAA	0.473																																						dbGAP											0													146.0	122.0	130.0					1																	147126385		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.704T>G	1.37:g.147126385A>C	ENSP00000358241:p.Val235Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.V235G	ENST00000369238.6	37	c.704	CCDS928.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272455	0.80580	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	T;T	0.34667	1.35;1.35	5.59	5.59	0.84812	.	0.210963	0.45867	D	0.000333	T	0.47619	0.1455	M	0.65975	2.015	0.58432	D	0.999994	D;D	0.69078	0.995;0.997	P;P	0.62089	0.836;0.898	T	0.53457	-0.8436	10	0.87932	D	0	.	15.4219	0.75018	1.0:0.0:0.0:0.0	.	235;235	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	G	235	ENSP00000358241:V235G;ENSP00000376714:V235G	ENSP00000358241:V235G	V	-	2	0	ACP6	145593009	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.174000	0.77620	2.117000	0.64856	0.533000	0.62120	GTG	ACP6	-	pfam_His_Pase_superF_clade-2	ENSG00000162836		0.473	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP6	HGNC	protein_coding	OTTHUMT00000039420.2	138	0.00	0	A	NM_016361		147126385	147126385	-1	no_errors	ENST00000369238	ensembl	human	known	69_37n	missense	120	14.89	21	SNP	1.000	C
ACSL5	51703	genome.wustl.edu	37	10	114154737	114154737	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:114154737A>C	ENST00000393081.1	+	2	340	c.33A>C	c.(31-33)ccA>ccC	p.P11P	ACSL5_ENST00000433418.1_Silent_p.P11P|ACSL5_ENST00000354655.4_Silent_p.P11P|ACSL5_ENST00000356116.1_Silent_p.P67P|ACSL5_ENST00000354273.4_Silent_p.P11P|ACSL5_ENST00000479936.1_3'UTR	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	11					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGTTTTCCCCACTTCCGACCC	0.428																																						dbGAP											0													164.0	163.0	164.0					10																	114154737		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.33A>C	10.37:g.114154737A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.P67	ENST00000393081.1	37	c.201	CCDS7573.1	10																																																																																			ACSL5	-	NULL	ENSG00000197142		0.428	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	351	0.28	1	A	NM_016234		114154737	114154737	+1	no_errors	ENST00000356116	ensembl	human	known	69_37n	silent	281	12.19	39	SNP	1.000	C
ACSL5	51703	genome.wustl.edu	37	10	114154801	114154801	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:114154801A>C	ENST00000393081.1	+	2	404	c.97A>C	c.(97-99)Acc>Ccc	p.T33P	ACSL5_ENST00000433418.1_Missense_Mutation_p.T33P|ACSL5_ENST00000354655.4_Missense_Mutation_p.T33P|ACSL5_ENST00000356116.1_Missense_Mutation_p.T89P|ACSL5_ENST00000354273.4_Missense_Mutation_p.T33P|ACSL5_ENST00000479936.1_3'UTR	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	33					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GTGGCTGATCACCAGACCTCA	0.443																																						dbGAP											0													139.0	126.0	130.0					10																	114154801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.97A>C	10.37:g.114154801A>C	ENSP00000376796:p.Thr33Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T89P	ENST00000393081.1	37	c.265	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320560	0.41096	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.40225	1.83;1.83;1.8;1.04;1.83	5.14	2.69	0.31865	.	0.493589	0.22695	N	0.056779	T	0.43055	0.1230	M	0.76838	2.35	0.80722	D	1	P;B;B	0.44478	0.836;0.018;0.007	B;B;B	0.41036	0.346;0.067;0.021	T	0.34900	-0.9810	10	0.52906	T	0.07	-6.1754	8.6786	0.34194	0.6955:0.0:0.0:0.3045	.	33;89;33	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	P	33;33;89;33;33	ENSP00000346680:T33P;ENSP00000376796:T33P;ENSP00000348429:T89P;ENSP00000403647:T33P;ENSP00000346223:T33P	ENSP00000346223:T33P	T	+	1	0	ACSL5	114144791	0.988000	0.35896	0.988000	0.46212	0.829000	0.46940	1.914000	0.39966	0.321000	0.23259	0.379000	0.24179	ACC	ACSL5	-	NULL	ENSG00000197142		0.443	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	247	0.00	0	A	NM_016234		114154801	114154801	+1	no_errors	ENST00000356116	ensembl	human	known	69_37n	missense	223	11.16	28	SNP	0.960	C
ACSM1	116285	genome.wustl.edu	37	16	20635536	20635536	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:20635536A>C	ENST00000307493.4	-	12	1596	c.1529T>G	c.(1528-1530)gTg>gGg	p.V510G	ACSM1_ENST00000520010.1_Splice_Site_p.V510G|ACSM1_ENST00000219151.4_Splice_Site_p.V161G	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	510					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGCCTTCACCACCTGCAGAAT	0.478																																						dbGAP											0													131.0	108.0	116.0					16																	20635536		2201	4300	6501	-	-	-	SO:0001630	splice_region_variant	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1528-1T>G	16.37:g.20635536A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AH2|Q96A20	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V510G	ENST00000307493.4	37	c.1529	CCDS10587.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.48|15.48	2.844915|2.844915	0.51164|0.51164	.|.	.|.	ENSG00000166743|ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010|ENST00000524149	T;T;T|.	0.51817|.	0.69;0.69;0.69|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	0.000000|.	0.42548|.	D|.	0.000686|.	T|T	0.72708|0.72708	0.3494|0.3494	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	P|.	0.53360|.	0.724|.	T|T	0.74365|0.74365	-0.3689|-0.3689	9|5	.|.	.|.	.|.	.|.	12.1561|12.1561	0.54077|0.54077	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	510|.	Q08AH1|.	ACSM1_HUMAN|.	G|G	510;161;510|182	ENSP00000301956:V510G;ENSP00000219151:V161G;ENSP00000428047:V510G|.	.|.	V|W	-|-	2|1	0|0	ACSM1|ACSM1	20543037|20543037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.522000|0.522000	0.34438|0.34438	4.901000|4.901000	0.63259|0.63259	1.772000|1.772000	0.52199|0.52199	0.496000|0.496000	0.49642|0.49642	GTG|TGG	ACSM1	-	NULL	ENSG00000166743		0.478	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	412	0.00	0	A	NM_052956	Missense_Mutation	20635536	20635536	-1	no_errors	ENST00000307493	ensembl	human	known	69_37n	missense	489	12.01	67	SNP	1.000	C
ACSM3	6296	genome.wustl.edu	37	16	20803602	20803602	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:20803602A>C	ENST00000289416.5	+	12	1974	c.1499A>C	c.(1498-1500)cAc>cCc	p.H500P	ACSM3_ENST00000450120.2_Missense_Mutation_p.H492P|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	500					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CTGAATGAACACCCTTCAGTT	0.433																																						dbGAP											0													276.0	281.0	279.0					16																	20803602		2201	4300	6501	-	-	-	SO:0001583	missense	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1499A>C	16.37:g.20803602A>C	ENSP00000289416:p.His500Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.H500P	ENST00000289416.5	37	c.1499	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194817	0.78902	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.64803	-0.12;-0.12	5.5	5.5	0.81552	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91382	0.5128	10	0.87932	D	0	-13.2749	15.6076	0.76685	1.0:0.0:0.0:0.0	.	492;500	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	P	500;492	ENSP00000289416:H500P;ENSP00000395297:H492P	ENSP00000289416:H500P	H	+	2	0	ACSM3	20711103	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	7.668000	0.83897	2.094000	0.63399	0.454000	0.30748	CAC	ACSM3	-	pfam_AMP-dep_Synth/Lig	ENSG00000005187		0.433	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	232	0.43	1	A	NM_005622		20803602	20803602	+1	no_errors	ENST00000289416	ensembl	human	known	69_37n	missense	201	16.87	41	SNP	1.000	C
ACTRT1	139741	genome.wustl.edu	37	X	127185211	127185211	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:127185211A>C	ENST00000371124.3	-	1	1171	c.975T>G	c.(973-975)ggT>ggG	p.G325G		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	325						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGATGGGAGTACCTTTGGAAG	0.498																																						dbGAP											0													143.0	100.0	114.0					X																	127185211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.975T>G	X.37:g.127185211A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X7C1|Q96L10	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G325	ENST00000371124.3	37	c.975	CCDS14611.1	X																																																																																			ACTRT1	-	pfam_Actin-like,smart_Actin-like	ENSG00000123165		0.498	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1	435	0.68	3	A	NM_138289		127185211	127185211	-1	no_errors	ENST00000371124	ensembl	human	known	69_37n	silent	280	11.04	35	SNP	0.000	C
ACTRT1	139741	genome.wustl.edu	37	X	127185609	127185609	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:127185609T>G	ENST00000371124.3	-	1	773	c.577A>C	c.(577-579)Acc>Ccc	p.T193P		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	193						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGGAGCCGGGTGAGGTGCTCT	0.527																																						dbGAP											0													84.0	79.0	80.0					X																	127185609		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.577A>C	X.37:g.127185609T>G	ENSP00000360165:p.Thr193Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X7C1|Q96L10	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.T193P	ENST00000371124.3	37	c.577	CCDS14611.1	X	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531663	0.45073	.	.	ENSG00000123165	ENST00000371124	T	0.30182	1.54	3.48	2.31	0.28768	.	0.519798	0.17570	N	0.169505	T	0.47655	0.1457	M	0.83384	2.64	0.25363	N	0.988766	D	0.57571	0.98	P	0.57468	0.821	T	0.36529	-0.9744	10	0.87932	D	0	.	6.4199	0.21738	0.0:0.1261:0.0:0.8739	.	193	Q8TDG2	ACTT1_HUMAN	P	193	ENSP00000360165:T193P	ENSP00000360165:T193P	T	-	1	0	ACTRT1	127013290	0.015000	0.18098	0.039000	0.18376	0.737000	0.42083	0.406000	0.21032	0.544000	0.28883	0.441000	0.28932	ACC	ACTRT1	-	pfam_Actin-like,smart_Actin-like	ENSG00000123165		0.527	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1	392	0.25	1	T	NM_138289		127185609	127185609	-1	no_errors	ENST00000371124	ensembl	human	known	69_37n	missense	255	11.46	33	SNP	0.864	G
ACVR1C	130399	genome.wustl.edu	37	2	158406837	158406837	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:158406837A>C	ENST00000243349.8	-	4	972	c.612T>G	c.(610-612)ggT>ggG	p.G204G	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Silent_p.G124G|ACVR1C_ENST00000409680.3_Silent_p.G154G	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CACCAAATCTACCTTTTCCTA	0.413																																						dbGAP											0													218.0	210.0	213.0					2																	158406837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.612T>G	2.37:g.158406837A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G204	ENST00000243349.8	37	c.612	CCDS2205.1	2																																																																																			ACVR1C	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000123612		0.413	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	141	0.00	0	A	NM_145259		158406837	158406837	-1	no_errors	ENST00000243349	ensembl	human	known	69_37n	silent	164	12.77	24	SNP	0.487	C
ADAM10	102	genome.wustl.edu	37	15	58913777	58913777	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:58913777A>C	ENST00000260408.3	-	11	1847	c.1404T>G	c.(1402-1404)ggT>ggG	p.G468G	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.G167G|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	468	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CACATTCTTCACCTTGTTCTA	0.378																																						dbGAP											0													261.0	218.0	233.0					15																	58913777		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1404T>G	15.37:g.58913777A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU28|Q10742|Q92650	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.G468	ENST00000260408.3	37	c.1404	CCDS10167.1	15																																																																																			ADAM10	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000137845		0.378	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM10	HGNC	protein_coding	OTTHUMT00000255880.2	273	0.36	1	A	NM_001110		58913777	58913777	-1	no_errors	ENST00000260408	ensembl	human	known	69_37n	silent	231	13.16	35	SNP	0.954	C
ADAM12	8038	genome.wustl.edu	37	10	127760149	127760149	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:127760149A>C	ENST00000368679.4	-	12	1538	c.1229T>G	c.(1228-1230)gTg>gGg	p.V410G	ADAM12_ENST00000368676.4_Missense_Mutation_p.V410G|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	410	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AAACAGGCACACCCCCATTCC	0.547																																						dbGAP											0													82.0	80.0	80.0					10																	127760149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1229T>G	10.37:g.127760149A>C	ENSP00000357668:p.Val410Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.V410G	ENST00000368679.4	37	c.1229	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639348	0.67244	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.62941	-0.01;-0.01	5.13	5.13	0.70059	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	N	0.16790	0.44	0.49687	D	0.999816	P;P;P;P;B	0.38455	0.632;0.579;0.579;0.579;0.25	B;B;B;B;B	0.42319	0.383;0.264;0.264;0.371;0.212	T	0.48163	-0.9059	10	0.23302	T	0.38	.	15.1194	0.72429	1.0:0.0:0.0:0.0	.	407;407;410;407;410	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	G	410	ENSP00000357668:V410G;ENSP00000357665:V410G	ENSP00000357665:V410G	V	-	2	0	ADAM12	127750139	1.000000	0.71417	0.926000	0.36857	0.908000	0.53690	8.980000	0.93460	2.153000	0.67306	0.460000	0.39030	GTG	ADAM12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000148848		0.547	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	300	0.99	3	A			127760149	127760149	-1	no_errors	ENST00000368679	ensembl	human	known	69_37n	missense	243	21.36	66	SNP	1.000	C
ADAM12	8038	genome.wustl.edu	37	10	127824027	127824027	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:127824027T>G	ENST00000368679.4	-	5	735				ADAM12_ENST00000368676.4_Intron	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTGCCTAGGTGGAGGTGTAG	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.425+125A>C	10.37:g.127824027T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	RNA	SNP	-	NULL	ENST00000368679.4	37	NULL	CCDS7653.1	10																																																																																			ADAM12	-	-	ENSG00000148848		0.552	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	29	0.00	0	T			127824027	127824027	-1	no_errors	ENST00000494661	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	0.000	G
ADAM20	8748	genome.wustl.edu	37	14	70990360	70990360	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:70990360A>C	ENST00000256389.3	-	2	1509	c.1265T>G	c.(1264-1266)gTg>gGg	p.V422G	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	372	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTTAGTTGTCACCTTTCTATA	0.433																																						dbGAP											0													286.0	153.0	198.0					14																	70990360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1265T>G	14.37:g.70990360A>C	ENSP00000256389:p.Val422Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V422G	ENST00000256389.3	37	c.1265	CCDS32111.1	14	.	.	.	.	.	.	.	.	.	.	A	5.106	0.205183	0.09704	.	.	ENSG00000134007	ENST00000256389	T	0.09445	2.98	4.54	-9.08	0.00720	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	5.196220	0.01142	U	0.006232	T	0.05456	0.0144	N	0.17631	0.505	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27365	-1.0076	10	0.15499	T	0.54	.	5.7675	0.18235	0.3203:0.0:0.3216:0.3581	.	372	O43506	ADA20_HUMAN	G	422	ENSP00000256389:V422G	ENSP00000256389:V422G	V	-	2	0	ADAM20	70060113	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.384000	0.02542	-1.775000	0.01287	-0.385000	0.06624	GTG	ADAM20	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134007		0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2	333	0.30	1	A			70990360	70990360	-1	no_errors	ENST00000256389	ensembl	human	known	69_37n	missense	207	13.03	31	SNP	0.000	C
ADAM20	8748	genome.wustl.edu	37	14	70991525	70991525	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:70991525T>G	ENST00000256389.3	-	2	344	c.100A>C	c.(100-102)Acc>Ccc	p.T34P	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGAACAAGGTGTGAGGCACT	0.557																																						dbGAP											0													190.0	139.0	156.0					14																	70991525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.100A>C	14.37:g.70991525T>G	ENSP00000256389:p.Thr34Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T34P	ENST00000256389.3	37	c.100	CCDS32111.1	14	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055271	0.36277	.	.	ENSG00000134007	ENST00000256389	T	0.01015	5.44	3.93	-7.86	0.01187	.	.	.	.	.	T	0.00754	0.0025	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36915	-0.9728	6	0.46703	T	0.11	.	1.5354	0.02544	0.3:0.1478:0.0925:0.4596	.	.	.	.	P	34	ENSP00000256389:T34P	ENSP00000256389:T34P	T	-	1	0	ADAM20	70061278	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.713000	0.01883	-2.568000	0.00469	-1.159000	0.01794	ACC	ADAM20	-	NULL	ENSG00000134007		0.557	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2	312	0.32	1	T			70991525	70991525	-1	no_errors	ENST00000256389	ensembl	human	known	69_37n	missense	188	12.56	27	SNP	0.000	G
ADAM28	10863	genome.wustl.edu	37	8	24199144	24199144	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:24199144T>G	ENST00000265769.4	+	16	1814	c.1704T>G	c.(1702-1704)ggT>ggG	p.G568G	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G315G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	568	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCTGTCAAGGTGGGTCGGATA	0.413																																					NSCLC(193;488 2149 22258 34798 40734)	dbGAP											0													262.0	252.0	256.0					8																	24199144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1704T>G	8.37:g.24199144T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,prints_Blood-coag_inhib_Disintegrin	p.W201G	ENST00000265769.4	37	c.601	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	T	7.177	0.588760	0.13812	.	.	ENSG00000042980	ENST00000521629	.	.	.	5.84	-1.03	0.10102	.	.	.	.	.	T	0.41858	0.1177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28267	-1.0049	4	.	.	.	.	2.3177	0.04202	0.3793:0.0787:0.1069:0.4351	.	.	.	.	G	201	.	.	W	+	1	0	ADAM28	24255089	0.873000	0.30073	0.998000	0.56505	0.495000	0.33615	-0.325000	0.07976	0.019000	0.15079	0.533000	0.62120	TGG	ADAM28	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000042980		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	410	0.00	0	T	NM_021778		24199144	24199144	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521629	ensembl	human	novel	69_37n	missense	238	10.19	27	SNP	0.994	G
ADAMDEC1	27299	genome.wustl.edu	37	8	24242054	24242054	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:24242054A>C	ENST00000256412.4	+	1	257	c.37A>C	c.(37-39)Acc>Ccc	p.T13P	ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	13					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGCAGTGGCCACCATGTCTTG	0.448																																					Ovarian(147;687 1849 3699 25981 31337)	dbGAP											0													128.0	95.0	106.0					8																	24242054		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.37A>C	8.37:g.24242054A>C	ENSP00000256412:p.Thr13Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.T13P	ENST00000256412.4	37	c.37	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204063	0.38905	.	.	ENSG00000134028	ENST00000256412	T	0.02812	4.15	4.63	4.63	0.57726	.	0.973154	0.08504	N	0.936011	T	0.03053	0.0090	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.48917	-0.8992	10	0.46703	T	0.11	0.0029	10.7403	0.46149	1.0:0.0:0.0:0.0	.	13	O15204	ADEC1_HUMAN	P	13	ENSP00000256412:T13P	ENSP00000256412:T13P	T	+	1	0	ADAMDEC1	24297999	0.701000	0.27806	0.835000	0.33067	0.667000	0.39255	3.498000	0.53302	2.311000	0.77944	0.533000	0.62120	ACC	ADAMDEC1	-	NULL	ENSG00000134028		0.448	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	60	0.00	0	A	NM_014479		24242054	24242054	+1	no_errors	ENST00000256412	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	0.848	C
ADAMTS1	9510	genome.wustl.edu	37	21	28212006	28212006	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:28212006A>C	ENST00000284984.3	-	7	2382	c.1928T>G	c.(1927-1929)gTg>gGg	p.V643G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	643	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		AATCCATTCCACCGCAGGCCC	0.473																																						dbGAP											0													105.0	105.0	105.0					21																	28212006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1928T>G	21.37:g.28212006A>C	ENSP00000284984:p.Val643Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.V643G	ENST00000284984.3	37	c.1928	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094215	0.56075	.	.	ENSG00000154734	ENST00000284984	T	0.03607	3.87	5.35	5.35	0.76521	.	.	.	.	.	T	0.17704	0.0425	M	0.77616	2.38	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.00398	-1.1764	9	0.39692	T	0.17	.	15.79	0.78350	1.0:0.0:0.0:0.0	.	643	Q9UHI8	ATS1_HUMAN	G	643	ENSP00000284984:V643G	ENSP00000284984:V643G	V	-	2	0	ADAMTS1	27133877	1.000000	0.71417	0.981000	0.43875	0.064000	0.16182	8.761000	0.91691	2.371000	0.80710	0.533000	0.62120	GTG	ADAMTS1	-	NULL	ENSG00000154734		0.473	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	135	0.00	0	A			28212006	28212006	-1	no_errors	ENST00000284984	ensembl	human	known	69_37n	missense	120	17.69	26	SNP	1.000	C
ADAMTS12	81792	genome.wustl.edu	37	5	33561148	33561148	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:33561148A>C	ENST00000504830.1	-	20	4444	c.4109T>G	c.(4108-4110)gTg>gGg	p.V1370G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1285G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1370	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGTTTCCCACTTTCCAGCC	0.522										HNSCC(64;0.19)																												dbGAP											0													141.0	134.0	136.0					5																	33561148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4109T>G	5.37:g.33561148A>C	ENSP00000422554:p.Val1370Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1370G	ENST00000504830.1	37	c.4109	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658844	0.67586	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61392	0.11;0.11	5.59	4.44	0.53790	.	0.370799	0.28290	N	0.015894	T	0.61937	0.2387	M	0.88105	2.93	0.80722	D	1	P;P	0.51933	0.949;0.92	P;P	0.46275	0.51;0.491	T	0.65059	-0.6260	10	0.33141	T	0.24	.	4.8611	0.13585	0.7332:0.0:0.2668:0.0	.	1285;1370	P58397-3;P58397	.;ATS12_HUMAN	G	1370;1285	ENSP00000422554:V1370G;ENSP00000344847:V1285G	ENSP00000344847:V1285G	V	-	2	0	ADAMTS12	33596905	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	1.650000	0.37292	2.126000	0.65437	0.528000	0.53228	GTG	ADAMTS12	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000151388		0.522	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	254	0.39	1	A	NM_030955		33561148	33561148	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	218	17.91	48	SNP	1.000	C
ADAMTS12	81792	genome.wustl.edu	37	5	33576498	33576498	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:33576498T>G	ENST00000504830.1	-	19	3968	c.3633A>C	c.(3631-3633)ccA>ccC	p.P1211P	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.P1126P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1211	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTGAAGGGTGGCCACCAGG	0.537										HNSCC(64;0.19)																												dbGAP											0													162.0	153.0	156.0					5																	33576498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3633A>C	5.37:g.33576498T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1211	ENST00000504830.1	37	c.3633	CCDS34140.1	5																																																																																			ADAMTS12	-	NULL	ENSG00000151388		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	266	0.00	0	T	NM_030955		33576498	33576498	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	silent	213	11.62	28	SNP	0.000	G
ADAMTS16	170690	genome.wustl.edu	37	5	5303709	5303709	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:5303709T>G	ENST00000274181.7	+	20	3154	c.3016T>G	c.(3016-3018)Tgg>Ggg	p.W1006G		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1006	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGGAAGGGGTGGAGGAAGCG	0.637																																						dbGAP											0													52.0	61.0	58.0					5																	5303709		2160	4261	6421	-	-	-	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3016T>G	5.37:g.5303709T>G	ENSP00000274181:p.Trp1006Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.W1006G	ENST00000274181.7	37	c.3016	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589491	0.46214	.	.	ENSG00000145536	ENST00000274181	T	0.52295	0.67	4.65	4.65	0.58169	.	0.077814	0.56097	D	0.000036	T	0.61123	0.2322	M	0.81341	2.54	0.35678	D	0.813865	D;P	0.61080	0.989;0.632	P;B	0.55508	0.777;0.429	T	0.70174	-0.4944	10	0.27082	T	0.32	.	12.3336	0.55054	0.0:0.0:0.0:1.0	.	1006;1006	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	G	1006	ENSP00000274181:W1006G	ENSP00000274181:W1006G	W	+	1	0	ADAMTS16	5356709	0.942000	0.31987	0.887000	0.34795	0.888000	0.51559	1.499000	0.35671	1.843000	0.53566	0.528000	0.53228	TGG	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145536		0.637	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	52	0.00	0	T	NM_139056		5303709	5303709	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	missense	47	21.31	13	SNP	0.781	G
ADAMTS16	170690	genome.wustl.edu	37	5	5306829	5306829	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:5306829A>C	ENST00000274181.7	+	21	3537	c.3399A>C	c.(3397-3399)tcA>tcC	p.S1133S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1133	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTTTGCCTCACCCTGGTCTC	0.697																																						dbGAP											0													14.0	15.0	15.0					5																	5306829		1924	4130	6054	-	-	-	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3399A>C	5.37:g.5306829A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1133	ENST00000274181.7	37	c.3399	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145536		0.697	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	20	0.00	0	A	NM_139056		5306829	5306829	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.081	C
ADAMTS12	81792	genome.wustl.edu	37	5	33577083	33577083	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:33577083T>G	ENST00000504830.1	-	19	3383	c.3048A>C	c.(3046-3048)ccA>ccC	p.P1016P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P931P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1016	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAGTGTTGGTGGGTTTTTTC	0.537										HNSCC(64;0.19)																												dbGAP											0													150.0	143.0	146.0					5																	33577083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3048A>C	5.37:g.33577083T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1016	ENST00000504830.1	37	c.3048	CCDS34140.1	5																																																																																			ADAMTS12	-	NULL	ENSG00000151388		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	286	0.00	0	T	NM_030955		33577083	33577083	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	silent	220	12.70	32	SNP	0.001	G
ADAMTS18	170692	genome.wustl.edu	37	16	77355034	77355034	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:77355034A>C	ENST00000282849.5	-	15	2647	c.2229T>G	c.(2227-2229)ggT>ggG	p.G743G		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	743	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGAATTATCACCTTTGCAAA	0.378																																						dbGAP											0													120.0	120.0	120.0					16																	77355034		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2229T>G	16.37:g.77355034A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G743	ENST00000282849.5	37	c.2229	CCDS10926.1	16																																																																																			ADAMTS18	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000140873		0.378	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	123	0.81	1	A			77355034	77355034	-1	no_errors	ENST00000282849	ensembl	human	known	69_37n	silent	88	16.19	17	SNP	1.000	C
ADAMTS3	9508	genome.wustl.edu	37	4	73414352	73414352	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:73414352A>C	ENST00000286657.4	-	3	383	c.347T>G	c.(346-348)gTg>gGg	p.V116G	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	116					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTCCCAGGCACCAGAGATGT	0.463																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													176.0	172.0	173.0					4																	73414352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.347T>G	4.37:g.73414352A>C	ENSP00000286657:p.Val116Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V116G	ENST00000286657.4	37	c.347	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	A	2.244	-0.373146	0.05034	.	.	ENSG00000156140	ENST00000286657	T	0.61274	0.12	5.76	-3.44	0.04796	Peptidase M12B, propeptide (1);	1.225170	0.06077	N	0.661256	T	0.29817	0.0745	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.10177	-1.0641	10	0.23302	T	0.38	.	2.072	0.03615	0.3318:0.2055:0.0688:0.394	.	116	O15072	ATS3_HUMAN	G	116	ENSP00000286657:V116G	ENSP00000286657:V116G	V	-	2	0	ADAMTS3	73633216	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.083000	0.11286	-0.331000	0.08501	-0.336000	0.08194	GTG	ADAMTS3	-	pfam_Peptidase_M12B_N	ENSG00000156140		0.463	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	245	0.00	0	A			73414352	73414352	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	missense	154	10.92	19	SNP	0.000	C
ADAMTS4	9507	genome.wustl.edu	37	1	161168058	161168058	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:161168058A>C	ENST00000367996.5	-	1	788	c.360T>G	c.(358-360)ggT>ggG	p.G120G	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.G120G|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	120					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCTCTGCTCCACCCAGCAGCT	0.632																																						dbGAP											0													50.0	50.0	50.0					1																	161168058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.360T>G	1.37:g.161168058A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G120	ENST00000367996.5	37	c.360	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B_N	ENSG00000158859		0.632	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	64	0.00	0	A	NM_005099		161168058	161168058	-1	no_errors	ENST00000367996	ensembl	human	known	69_37n	silent	95	17.80	21	SNP	0.134	C
ADAMTS5	11096	genome.wustl.edu	37	21	28338451	28338451	+	Missense_Mutation	SNP	A	A	C	rs610211		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:28338451A>C	ENST00000284987.5	-	1	381	c.260T>G	c.(259-261)gTg>gGg	p.V87G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	87					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GAGGTAGCCCACCTTGCCGCC	0.706																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													49.0	48.0	48.0					21																	28338451		2188	4290	6478	-	-	-	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.260T>G	21.37:g.28338451A>C	ENSP00000284987:p.Val87Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.V87G	ENST00000284987.5	37	c.260	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681297	0.47991	.	.	ENSG00000154736	ENST00000284987	T	0.06608	3.28	4.32	0.577	0.17385	Peptidase M12B, propeptide (1);	0.086727	0.47093	D	0.000256	T	0.06645	0.0170	L	0.43923	1.385	0.58432	D	0.999994	P	0.34892	0.474	B	0.37833	0.259	T	0.31251	-0.9950	10	0.59425	D	0.04	.	8.0097	0.30347	0.7363:0.0:0.2637:0.0	rs610211	87	Q9UNA0	ATS5_HUMAN	G	87	ENSP00000284987:V87G	ENSP00000284987:V87G	V	-	2	0	ADAMTS5	27260322	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.243000	0.51392	0.220000	0.20860	0.460000	0.39030	GTG	ADAMTS5	-	pfam_Peptidase_M12B_N	ENSG00000154736		0.706	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	42	0.00	0	A			28338451	28338451	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	1.000	C
ADAMTS9	56999	genome.wustl.edu	37	3	64635407	64635407	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:64635407T>G	ENST00000498707.1	-	10	1853	c.1511A>C	c.(1510-1512)tAc>tCc	p.Y504S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y476S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	504					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGGCAAAGGGTAGGGTCTGGA	0.468																																						dbGAP											0													152.0	136.0	142.0					3																	64635407		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1511A>C	3.37:g.64635407T>G	ENSP00000418735:p.Tyr504Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Y504S	ENST00000498707.1	37	c.1511	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884745	0.72410	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.03745	3.82;3.82	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.071262	0.64402	D	0.000017	T	0.22551	0.0544	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.968	D;D;D;P	0.74674	0.935;0.984;0.971;0.811	T	0.01039	-1.1472	10	0.87932	D	0	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	476;504;504;504	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	S	476;504	ENSP00000295903:Y476S;ENSP00000418735:Y504S	ENSP00000295903:Y476S	Y	-	2	0	ADAMTS9	64610447	1.000000	0.71417	0.969000	0.41365	0.932000	0.56968	8.040000	0.89188	2.251000	0.74343	0.528000	0.53228	TAC	ADAMTS9	-	NULL	ENSG00000163638		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	116	0.00	0	T			64635407	64635407	-1	no_errors	ENST00000498707	ensembl	human	known	69_37n	missense	82	17.65	18	SNP	1.000	G
ADAMTSL3	57188	genome.wustl.edu	37	15	84651754	84651754	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:84651754T>G	ENST00000286744.5	+	21	3598	c.3374T>G	c.(3373-3375)gTg>gGg	p.V1125G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1125G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1125						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TATCAGCTGGTGGCCGAATTA	0.542																																						dbGAP											0													53.0	52.0	52.0					15																	84651754		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3374T>G	15.37:g.84651754T>G	ENSP00000286744:p.Val1125Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.V1125G	ENST00000286744.5	37	c.3374	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686640	0.47991	.	.	ENSG00000156218	ENST00000286744	T	0.67698	-0.28	5.43	4.31	0.51392	.	0.567665	0.13252	N	0.402025	T	0.75384	0.3842	M	0.64997	1.995	0.58432	D	0.999994	P;D	0.64830	0.887;0.994	P;P	0.58077	0.674;0.832	T	0.73665	-0.3911	10	0.87932	D	0	.	11.0561	0.47920	0.0:0.0729:0.0:0.9271	.	1125;1125	P82987-2;P82987	.;ATL3_HUMAN	G	1125	ENSP00000286744:V1125G	ENSP00000286744:V1125G	V	+	2	0	ADAMTSL3	82442758	1.000000	0.71417	0.995000	0.50966	0.127000	0.20565	4.711000	0.61881	0.892000	0.36259	0.455000	0.32223	GTG	ADAMTSL3	-	NULL	ENSG00000156218		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	107	0.00	0	T	NM_207517		84651754	84651754	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	missense	135	13.46	21	SNP	0.996	G
ADARB1	104	genome.wustl.edu	37	21	46596071	46596071	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:46596071A>C	ENST00000360697.3	+	2	470	c.455A>C	c.(454-456)cAc>cCc	p.H152P	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.H152P|ADARB1_ENST00000389863.4_Missense_Mutation_p.H152P|ADARB1_ENST00000539173.1_Missense_Mutation_p.H152P			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	152					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCTGAGGCCCACCTGGCCATG	0.522																																						dbGAP											0													68.0	61.0	63.0					21																	46596071		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.455A>C	21.37:g.46596071A>C	ENSP00000353920:p.His152Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.H152P	ENST00000360697.3	37	c.455	CCDS33589.1	21	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529699	0.64860	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.34072	1.39;1.38;1.41;1.39	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.76574	2.34	0.80722	D	1	B;P;P;P;B	0.51933	0.052;0.949;0.739;0.741;0.026	B;P;P;P;B	0.62382	0.216;0.901;0.692;0.787;0.216	T	0.60616	-0.7228	10	0.59425	D	0.04	-52.7492	13.3939	0.60838	1.0:0.0:0.0:0.0	.	179;152;152;180;152	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	P	152	ENSP00000441897:H152P;ENSP00000374513:H152P;ENSP00000015877:H152P;ENSP00000353920:H152P	ENSP00000015877:H152P	H	+	2	0	ADARB1	45420499	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.899000	0.92544	2.127000	0.65507	0.459000	0.35465	CAC	ADARB1	-	NULL	ENSG00000197381		0.522	ADARB1-004	KNOWN	basic|CCDS	protein_coding	ADARB1	HGNC	protein_coding	OTTHUMT00000206648.2	103	0.96	1	A	NM_015833		46596071	46596071	+1	no_errors	ENST00000360697	ensembl	human	known	69_37n	missense	110	13.95	18	SNP	1.000	C
AZIN2	113451	genome.wustl.edu	37	1	33585763	33585763	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:33585763A>C	ENST00000294517.6	+	12	1950	c.1363A>C	c.(1363-1365)Acc>Ccc	p.T455P	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.T475P|ADC_ENST00000373441.1_Missense_Mutation_p.T475P|ADC_ENST00000373443.3_Missense_Mutation_p.T455P	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		455					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CCCTGTCTTCACCCCAGCGAG	0.632																																						dbGAP											0													119.0	102.0	108.0					1																	33585763		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000294517.6:c.1363A>C	1.37:g.33585763A>C	ENSP00000294517:p.Thr455Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.T475P	ENST00000294517.6	37	c.1423	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	a	20.2	3.948531	0.73787	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.11	3.96	0.45880	.	0.250566	0.34411	N	0.003998	T	0.40448	0.1117	N	0.24115	0.695	0.80722	D	1	D;D	0.61080	0.989;0.981	P;P	0.58266	0.836;0.69	T	0.32322	-0.9911	10	0.66056	D	0.02	-19.533	6.914	0.24349	0.838:0.0:0.162:0.0	.	475;455	Q96A70-2;Q96A70	.;ADC_HUMAN	P	455;455;475;475	ENSP00000294517:T455P;ENSP00000362542:T455P;ENSP00000381233:T475P;ENSP00000362540:T475P	ENSP00000294517:T455P	T	+	1	0	ADC	33358350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.386000	0.34419	2.064000	0.61679	0.454000	0.30748	ACC	ADC	-	NULL	ENSG00000142920		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	118	0.83	1	A			33585763	33585763	+1	no_errors	ENST00000373441	ensembl	human	known	69_37n	missense	115	16.55	23	SNP	1.000	C
ADCK1	57143	genome.wustl.edu	37	14	78390810	78390810	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:78390810A>C	ENST00000238561.5	+	8	968	c.869A>C	c.(868-870)cAc>cCc	p.H290P	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.H222P	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	297	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATCTCACGCCACCTGGGCAAG	0.557																																						dbGAP											0													95.0	86.0	89.0					14																	78390810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.869A>C	14.37:g.78390810A>C	ENSP00000238561:p.His290Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.H290P	ENST00000238561.5	37	c.869	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	A	12.80	2.045098	0.36085	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.81415	0.7;-1.49;0.7	5.63	1.76	0.24704	.	0.290731	0.42294	D	0.000722	T	0.58793	0.2147	N	0.08118	0	0.31198	N	0.700115	B;B	0.26041	0.14;0.026	B;B	0.33042	0.157;0.01	T	0.52601	-0.8554	10	0.34782	T	0.22	-0.7069	2.7254	0.05212	0.5511:0.1305:0.068:0.2504	.	222;290	Q9UIE6;Q86TW2-2	.;.	P	290;251;222	ENSP00000238561:H290P;ENSP00000451549:H251P;ENSP00000339663:H222P	ENSP00000238561:H290P	H	+	2	0	ADCK1	77460563	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	4.765000	0.62271	0.401000	0.25424	-0.333000	0.08304	CAC	ADCK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	ENSG00000063761		0.557	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	73	0.00	0	A	NM_020421		78390810	78390810	+1	no_errors	ENST00000238561	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.893	C
ADCYAP1R1	117	genome.wustl.edu	37	7	31102897	31102897	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:31102897A>C	ENST00000304166.4	+	2	306	c.17A>C	c.(16-18)cAc>cCc	p.H6P	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.H6P|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.H6P|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.H6P	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	6					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGTGTCGTGCACGTTTCCCTG	0.617																																					Ovarian(44;225 1186 2158 11092)	dbGAP											0													154.0	105.0	122.0					7																	31102897		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.17A>C	7.37:g.31102897A>C	ENSP00000306620:p.His6Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.H6P	ENST00000304166.4	37	c.17	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	A	6.248	0.413954	0.11870	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000431811;ENST00000396211;ENST00000409489	T;T;T;T;T	0.47528	1.17;1.17;0.94;0.85;0.84	3.79	-0.0807	0.13705	.	1.022700	0.07806	N	0.957291	T	0.24699	0.0599	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.21147	0.021;0.021;0.052;0.004;0.0	B;B;B;B;B	0.17433	0.004;0.004;0.018;0.003;0.0	T	0.20940	-1.0260	10	0.29301	T	0.29	.	6.0746	0.19907	0.5998:0.0:0.4002:0.0	.	6;6;6;6;6	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	P	6	ENSP00000306620:H6P;ENSP00000387335:H6P;ENSP00000400893:H6P;ENSP00000379514:H6P;ENSP00000386395:H6P	ENSP00000306620:H6P	H	+	2	0	ADCYAP1R1	31069422	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.361000	0.07612	-0.011000	0.14247	-0.456000	0.05471	CAC	ADCYAP1R1	-	NULL	ENSG00000078549		0.617	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	36	0.00	0	A	NM_001118		31102897	31102897	+1	no_errors	ENST00000304166	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	0.004	C
ADD1	118	genome.wustl.edu	37	4	2929942	2929942	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:2929942A>C	ENST00000398129.1	+	14	1926	c.1906A>C	c.(1906-1908)Acc>Ccc	p.T636P	ADD1_ENST00000446856.1_Missense_Mutation_p.T636P|ADD1_ENST00000264758.7_Missense_Mutation_p.T667P|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	636					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGATGCTGCCACCTTTAAGCC	0.547																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	dbGAP											0													229.0	257.0	247.0					4																	2929942		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1906A>C	4.37:g.2929942A>C	ENSP00000381197:p.Thr636Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T667P	ENST00000398129.1	37	c.1999	CCDS43205.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.2|22.2	4.261621|4.261621	0.80358|0.80358	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000541843|ENST00000264758;ENST00000446856;ENST00000398129	.|T;T;T	.|0.06294	.|3.32;3.35;3.35	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|0.160253	.|0.53938	.|D	.|0.000042	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.83275	.|0.987;0.996	T|T	0.01030|0.01030	-1.1475|-1.1475	5|10	.|0.38643	.|T	.|0.18	-25.9474|-25.9474	14.4855|14.4855	0.67614|0.67614	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|636;667	.|P35611;P35611-3	.|ADDA_HUMAN;.	P|P	92|667;636;636	.|ENSP00000264758:T667P;ENSP00000399828:T636P;ENSP00000381197:T636P	.|ENSP00000264758:T667P	H|T	+|+	2|1	0|0	ADD1|ADD1	2899740|2899740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.424000|5.424000	0.66464|0.66464	1.878000|1.878000	0.54408|0.54408	0.533000|0.533000	0.62120|0.62120	CAC|ACC	ADD1	-	NULL	ENSG00000087274		0.547	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	186	0.53	1	A	NM_014189		2929942	2929942	+1	no_errors	ENST00000264758	ensembl	human	known	69_37n	missense	131	17.09	27	SNP	1.000	C
ADIPOR1	51094	genome.wustl.edu	37	1	202920125	202920125	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:202920125A>C	ENST00000340990.5	-	2	372	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.V25G|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V25G	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	25					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGTTCCACCGTGTCAGC	0.557																																						dbGAP											0													136.0	124.0	128.0					1																	202920125		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.74T>G	1.37:g.202920125A>C	ENSP00000341785:p.Val25Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	pfam_HlyIII-related	p.V25G	ENST00000340990.5	37	c.74	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539680	0.65085	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.96	5.96	0.96718	.	0.173477	0.50627	D	0.000101	D	0.92625	0.7657	L	0.29908	0.895	0.80722	D	1	B	0.16802	0.019	B	0.14023	0.01	D	0.89313	0.3634	10	0.22706	T	0.39	.	15.261	0.73621	1.0:0.0:0.0:0.0	.	25	Q96A54	ADR1_HUMAN	G	25	ENSP00000341785:V25G;ENSP00000395469:V25G;ENSP00000402178:V25G;ENSP00000356223:V25G;ENSP00000392946:V25G	ENSP00000341785:V25G	V	-	2	0	ADIPOR1	201186748	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.457000	0.80775	2.278000	0.76064	0.533000	0.62120	GTG	ADIPOR1	-	NULL	ENSG00000159346		0.557	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	HGNC	protein_coding	OTTHUMT00000099160.2	155	0.00	0	A	NM_015999		202920125	202920125	-1	no_errors	ENST00000340990	ensembl	human	known	69_37n	missense	230	15.38	42	SNP	1.000	C
ADK	132	genome.wustl.edu	37	10	76468174	76468174	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:76468174A>C	ENST00000286621.2	+	11	1110	c.1060A>C	c.(1060-1062)Acc>Ccc	p.T354P	ADK_ENST00000541550.1_Missense_Mutation_p.T319P|ADK_ENST00000539909.1_Missense_Mutation_p.T297P|ADK_ENST00000372734.3_Missense_Mutation_p.T337P	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	354					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	GACTGGCTGCACCTTTCCTGA	0.483																																						dbGAP											0													94.0	84.0	87.0					10																	76468174		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.1060A>C	10.37:g.76468174A>C	ENSP00000286621:p.Thr354Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	pfam_PfkB,prints_Adenokinase	p.T354P	ENST00000286621.2	37	c.1060	CCDS7343.1	10	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504391	0.85176	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.48	5.48	0.80851	Carbohydrate/purine kinase (1);	0.047437	0.85682	D	0.000000	D	0.94850	0.8336	M	0.88450	2.955	0.80722	D	1	P;D;P;P	0.57257	0.91;0.979;0.948;0.899	P;D;P;P	0.67725	0.686;0.953;0.804;0.879	D	0.95519	0.8593	10	0.66056	D	0.02	-10.9966	14.538	0.67973	1.0:0.0:0.0:0.0	.	319;297;337;354	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	P	297;354;337;319	ENSP00000443965:T297P;ENSP00000286621:T354P;ENSP00000361819:T337P;ENSP00000438321:T319P	ENSP00000286621:T354P	T	+	1	0	ADK	76138180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.356000	0.90085	2.078000	0.62432	0.533000	0.62120	ACC	ADK	-	pfam_PfkB	ENSG00000156110		0.483	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADK	HGNC	protein_coding	OTTHUMT00000048763.1	145	0.68	1	A	NM_001123, NM_006721		76468174	76468174	+1	no_errors	ENST00000286621	ensembl	human	known	69_37n	missense	90	22.41	26	SNP	1.000	C
ADRA1A	148	genome.wustl.edu	37	8	26627985	26627985	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:26627985T>G	ENST00000519229.1	-	2	1088	c.1082A>C	c.(1081-1083)cAc>cCc	p.H361P	ADRA1A_ENST00000380582.3_Missense_Mutation_p.H361P|ADRA1A_ENST00000354550.4_Missense_Mutation_p.H361P|ADRA1A_ENST00000380573.3_Missense_Mutation_p.H361P|ADRA1A_ENST00000276393.4_Missense_Mutation_p.H361P|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.H361P			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	322					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTGGGCGGGTGCAGGGTGTA	0.552																																						dbGAP											0													132.0	131.0	131.0					8																	26627985		2203	4300	6503	-	-	-	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1082A>C	8.37:g.26627985T>G	ENSP00000430793:p.His361Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPY0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.H361P	ENST00000519229.1	37	c.1082		8	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191340	0.21954	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62105	0.09;0.1;0.07;0.05;0.07;0.07	5.96	4.74	0.60224	.	0.441828	0.21445	N	0.074421	T	0.57169	0.2035	L	0.47716	1.5	0.80722	D	1	B;B;P;B	0.34757	0.0;0.0;0.467;0.001	B;B;B;B	0.37888	0.001;0.001;0.26;0.001	T	0.58188	-0.7680	10	0.40728	T	0.16	.	12.6396	0.56702	0.0:0.0:0.1379:0.8621	.	361;361;361;361	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	P	361	ENSP00000369960:H361P;ENSP00000369956:H361P;ENSP00000430793:H361P;ENSP00000346557:H361P;ENSP00000276393:H361P;ENSP00000369947:H361P	ENSP00000276393:H361P	H	-	2	0	ADRA1A	26683902	1.000000	0.71417	0.919000	0.36401	0.054000	0.15201	2.268000	0.43338	2.279000	0.76181	0.533000	0.62120	CAC	ADRA1A	-	prints_Adrene_rcpt_A1Cs	ENSG00000120907		0.552	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	375	0.27	1	T	NM_033303		26627985	26627985	-1	no_errors	ENST00000380586	ensembl	human	known	69_37n	missense	265	15.61	49	SNP	0.991	G
ADTRP	84830	genome.wustl.edu	37	6	11778866	11778866	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:11778866A>C	ENST00000414691.3	-	1	537	c.127T>G	c.(127-129)Tgg>Ggg	p.W43G	ADTRP_ENST00000229583.5_Missense_Mutation_p.W43G|ADTRP_ENST00000379413.2_Missense_Mutation_p.W43G	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATATATTTCCACCTTGCACCA	0.423																																						dbGAP											0													286.0	283.0	284.0					6																	11778866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.127T>G	6.37:g.11778866A>C	ENSP00000404416:p.Trp43Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.W43G	ENST00000414691.3	37	c.127	CCDS4521.1	6	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288046	0.40494	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.83	4.65	0.58169	.	0.181162	0.52532	D	0.000063	T	0.42131	0.1189	M	0.82716	2.605	0.37520	D	0.917486	D;D	0.71674	0.998;0.987	P;P	0.61658	0.892;0.879	T	0.52961	-0.8505	10	0.87932	D	0	-5.4159	10.2727	0.43491	0.8527:0.0:0.0:0.1473	.	43;43	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	G	43	ENSP00000404416:W43G;ENSP00000229583:W43G;ENSP00000368723:W43G;ENSP00000368726:W43G;ENSP00000422927:W43G	ENSP00000229583:W43G	W	-	1	0	C6orf105	11886852	0.717000	0.27966	0.774000	0.31636	0.013000	0.08279	1.752000	0.38349	1.004000	0.39156	0.402000	0.26972	TGG	ADTRP	-	pfam_Far-17a_AIG1	ENSG00000111863		0.423	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	445	0.22	1	A	NM_032744		11778866	11778866	-1	no_errors	ENST00000379413	ensembl	human	known	69_37n	missense	199	15.25	36	SNP	0.940	C
ADTRP	84830	genome.wustl.edu	37	6	11778898	11778898	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:11778898A>C	ENST00000414691.3	-	1	505	c.95T>G	c.(94-96)gTg>gGg	p.V32G	ADTRP_ENST00000229583.5_Missense_Mutation_p.V32G|ADTRP_ENST00000379413.2_Missense_Mutation_p.V32G	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTTGGGTTTCACCTCGTCTTT	0.428																																						dbGAP											0													261.0	255.0	257.0					6																	11778898		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.95T>G	6.37:g.11778898A>C	ENSP00000404416:p.Val32Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.V32G	ENST00000414691.3	37	c.95	CCDS4521.1	6	.	.	.	.	.	.	.	.	.	.	A	6.802	0.517090	0.13005	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.49	-1.44	0.08856	.	1.625000	0.02881	N	0.132871	T	0.05502	0.0145	N	0.14661	0.345	0.09310	N	1	B;B	0.23937	0.094;0.045	B;B	0.26693	0.059;0.072	T	0.23261	-1.0193	10	0.26408	T	0.33	3.7379	3.9982	0.09568	0.296:0.3645:0.0:0.3395	.	32;32	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	G	32	ENSP00000404416:V32G;ENSP00000229583:V32G;ENSP00000368723:V32G;ENSP00000368726:V32G;ENSP00000422927:V32G	ENSP00000229583:V32G	V	-	2	0	C6orf105	11886884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.334000	0.02665	-0.491000	0.06697	-0.669000	0.03829	GTG	ADTRP	-	pfam_Far-17a_AIG1	ENSG00000111863		0.428	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	405	0.25	1	A	NM_032744		11778898	11778898	-1	no_errors	ENST00000379413	ensembl	human	known	69_37n	missense	195	11.76	26	SNP	0.000	C
AEBP1	165	genome.wustl.edu	37	7	44153649	44153649	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:44153649T>G	ENST00000223357.3	+	21	3571	c.3266T>G	c.(3265-3267)gTg>gGg	p.V1089G	AEBP1_ENST00000450684.2_Missense_Mutation_p.V664G	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1089	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TACACAGAGGTGGTGACAGAG	0.617																																						dbGAP											0													114.0	110.0	111.0					7																	44153649		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3266T>G	7.37:g.44153649T>G	ENSP00000223357:p.Val1089Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.V1089G	ENST00000223357.3	37	c.3266	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916866	0.52546	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.96136	-3.92;-3.32	5.03	5.03	0.67393	.	3.682390	0.00966	N	0.003178	D	0.94823	0.8328	L	0.27053	0.805	0.53688	D	0.999974	D;D	0.59357	0.982;0.985	P;P	0.53360	0.7;0.724	D	0.86658	0.1902	10	0.87932	D	0	-30.9761	7.9937	0.30256	0.0:0.1315:0.0:0.8685	.	664;1089	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	G	1089;664	ENSP00000223357:V1089G;ENSP00000398878:V664G	ENSP00000223357:V1089G	V	+	2	0	AEBP1	44120174	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.306000	0.51881	1.890000	0.54733	0.460000	0.39030	GTG	AEBP1	-	NULL	ENSG00000106624		0.617	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	27	0.00	0	T	NM_001129		44153649	44153649	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	missense	21	31.25	10	SNP	0.986	G
AEBP2	121536	genome.wustl.edu	37	12	19653050	19653050	+	Silent	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:19653050C>T	ENST00000398864.3	+	5	1220	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	AEBP2_ENST00000360995.4_Silent_p.F182F|AEBP2_ENST00000266508.9_Silent_p.F398F|AEBP2_ENST00000541908.1_Silent_p.F169F	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	398	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATGATTTCTTCGATGCACAAA	0.333																																						dbGAP											0													81.0	73.0	75.0					12																	19653050		1871	4099	5970	-	-	-	SO:0001819	synonymous_variant	0				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1194C>T	12.37:g.19653050C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F398	ENST00000398864.3	37	c.1194	CCDS44841.1	12																																																																																			AEBP2	-	NULL	ENSG00000139154		0.333	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	33	0.00	0	C	NM_153207		19653050	19653050	+1	no_errors	ENST00000398864	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	1.000	T
AFF1	4299	genome.wustl.edu	37	4	87968167	87968167	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:87968167A>C	ENST00000307808.6	+	3	879	c.459A>C	c.(457-459)ccA>ccC	p.P153P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P160P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	153					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTGCGGCCCACCGGACAGCC	0.562																																						dbGAP											0													78.0	77.0	78.0					4																	87968167		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.459A>C	4.37:g.87968167A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU1|E9PBM3	Silent	SNP	pfam_TF_AF4/FMR2	p.P160	ENST00000307808.6	37	c.480	CCDS3616.1	4																																																																																			AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.562	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	201	0.50	1	A	NM_005935		87968167	87968167	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	silent	224	13.85	36	SNP	0.000	C
AFF1	4299	genome.wustl.edu	37	4	87968533	87968533	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:87968533A>C	ENST00000307808.6	+	3	1245	c.825A>C	c.(823-825)ccA>ccC	p.P275P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P282P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	275					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGACATTTCCACCTCCCTCCC	0.557																																						dbGAP											0													110.0	122.0	118.0					4																	87968533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.825A>C	4.37:g.87968533A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU1|E9PBM3	Silent	SNP	pfam_TF_AF4/FMR2	p.P282	ENST00000307808.6	37	c.846	CCDS3616.1	4																																																																																			AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.557	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	373	0.79	3	A	NM_005935		87968533	87968533	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	silent	391	11.26	50	SNP	0.927	C
AFF2	2334	genome.wustl.edu	37	X	147743620	147743620	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:147743620A>C	ENST00000370460.2	+	3	851	c.372A>C	c.(370-372)ccA>ccC	p.P124P	AFF2_ENST00000342251.3_Silent_p.P120P|AFF2_ENST00000370457.5_Silent_p.P120P|AFF2_ENST00000370458.1_Silent_p.P120P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	124					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAATAATTCCACCTCACCAGG	0.403																																						dbGAP											0													232.0	228.0	229.0					X																	147743620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.372A>C	X.37:g.147743620A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.P124	ENST00000370460.2	37	c.372	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	879	0.11	1	A	NM_002025		147743620	147743620	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	silent	642	10.29	74	SNP	0.824	C
AFF2	2334	genome.wustl.edu	37	X	147744061	147744061	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:147744061A>C	ENST00000370460.2	+	3	1292	c.813A>C	c.(811-813)ccA>ccC	p.P271P	AFF2_ENST00000342251.3_Silent_p.P267P|AFF2_ENST00000370457.5_Silent_p.P267P|AFF2_ENST00000370458.1_Silent_p.P267P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	271					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACTTCCCACCAGGGCTTT	0.542																																						dbGAP											0													89.0	92.0	91.0					X																	147744061		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.813A>C	X.37:g.147744061A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.P271	ENST00000370460.2	37	c.813	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.542	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	398	0.25	1	A	NM_002025		147744061	147744061	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	silent	333	10.16	38	SNP	1.000	C
AFF2	2334	genome.wustl.edu	37	X	148039953	148039953	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:148039953A>C	ENST00000370460.2	+	12	3134	c.2655A>C	c.(2653-2655)tcA>tcC	p.S885S	AFF2_ENST00000286437.5_Silent_p.S526S|AFF2_ENST00000342251.3_Silent_p.S852S|AFF2_ENST00000370457.5_Silent_p.S852S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	885					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGCATCTCACCAGCCCCAC	0.512																																						dbGAP											0													192.0	175.0	181.0					X																	148039953		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2655A>C	X.37:g.148039953A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.S885	ENST00000370460.2	37	c.2655	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	332	0.00	0	A	NM_002025		148039953	148039953	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	silent	240	19.33	58	SNP	0.998	C
AFF2	2334	genome.wustl.edu	37	X	148039962	148039962	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:148039962A>C	ENST00000370460.2	+	12	3143	c.2664A>C	c.(2662-2664)ccA>ccC	p.P888P	AFF2_ENST00000286437.5_Silent_p.P529P|AFF2_ENST00000342251.3_Silent_p.P855P|AFF2_ENST00000370457.5_Silent_p.P855P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	888					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCCCCACCCCACAAGC	0.512																																						dbGAP											0													181.0	167.0	172.0					X																	148039962		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2664A>C	X.37:g.148039962A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.P888	ENST00000370460.2	37	c.2664	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	335	0.30	1	A	NM_002025		148039962	148039962	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	silent	238	20.33	61	SNP	0.972	C
AFF4	27125	genome.wustl.edu	37	5	132270040	132270040	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:132270040T>G	ENST00000265343.5	-	3	1096	c.717A>C	c.(715-717)ccA>ccC	p.P239P	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P239P	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	239	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAATGAGGGTGGGAAAGATT	0.502																																					Ovarian(126;889 1733 2942 10745 11605)	dbGAP											0													152.0	141.0	145.0					5																	132270040		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.717A>C	5.37:g.132270040T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	pfam_TF_AF4/FMR2	p.P239	ENST00000265343.5	37	c.717	CCDS4164.1	5																																																																																			AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.502	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	142	0.00	0	T	NM_014423		132270040	132270040	-1	no_errors	ENST00000265343	ensembl	human	known	69_37n	silent	113	19.29	27	SNP	0.966	G
AGAP11	119385	genome.wustl.edu	37	10	88768706	88768706	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:88768706A>C	ENST00000444431.1	+	0	3306				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CTCCAGCACCACCAGCCCCAA	0.507																																						dbGAP											0													65.0	78.0	74.0					10																	88768706		2203	4300	6503	-	-	-			0					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768706A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP7|D3DWE4	RNA	SNP	-	NULL	ENST00000444431.1	37	NULL		10																																																																																			AGAP11	-	-	ENSG00000151303		0.507	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	AGAP11	HGNC	processed_transcript	OTTHUMT00000049193.1	200	0.98	2	A	NM_133447		88768706	88768706	+1	no_errors	ENST00000433214	ensembl	human	known	69_37n	rna	147	18.33	33	SNP	1.000	C
AGAP11	119385	genome.wustl.edu	37	10	88768905	88768905	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:88768905T>G	ENST00000444431.1	+	0	3505				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GATGCCTGGGTCCAAGCCATC	0.557																																						dbGAP											0													101.0	109.0	106.0					10																	88768905		2203	4300	6503	-	-	-			0					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768905T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP7|D3DWE4	RNA	SNP	-	NULL	ENST00000444431.1	37	NULL		10																																																																																			AGAP11	-	-	ENSG00000151303		0.557	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	AGAP11	HGNC	processed_transcript	OTTHUMT00000049193.1	177	0.56	1	T	NM_133447		88768905	88768905	+1	no_errors	ENST00000444431	ensembl	human	known	69_37n	rna	151	12.07	21	SNP	1.000	G
AGBL1	123624	genome.wustl.edu	37	15	86808029	86808029	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:86808029A>C	ENST00000441037.2	+	10	1584	c.1489A>C	c.(1489-1491)Acc>Ccc	p.T497P	AGBL1_ENST00000389298.3_Missense_Mutation_p.T228P|AGBL1_ENST00000421325.2_Missense_Mutation_p.T497P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	497					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCCCCCTCCCACCACCCAGCC	0.463																																						dbGAP											0													77.0	76.0	76.0					15																	86808029		1931	4134	6065	-	-	-	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1489A>C	15.37:g.86808029A>C	ENSP00000413001:p.Thr497Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T497P	ENST00000441037.2	37	c.1489	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	A	6.844	0.524969	0.13066	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.29142	1.58;1.58	5.96	-11.9	0.00025	Armadillo-type fold (1);	0.779066	0.12334	N	0.478117	T	0.17619	0.0423	L	0.34521	1.04	0.09310	N	1	B;B;B	0.31879	0.344;0.008;0.105	B;B;B	0.36464	0.225;0.022;0.029	T	0.20739	-1.0266	10	0.36615	T	0.2	-1.9338	10.7026	0.45937	0.3342:0.0:0.4868:0.179	.	196;228;497	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	526;497;228	ENSP00000397173:T497P;ENSP00000373949:T228P	ENSP00000373949:T228P	T	+	1	0	AGBL1	84609033	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.102000	0.15272	-1.473000	0.01881	-1.199000	0.01669	ACC	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.463	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	156	0.00	0	A	NM_152336		86808029	86808029	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	missense	105	30.26	46	SNP	0.000	C
AGBL1	123624	genome.wustl.edu	37	15	86808032	86808032	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:86808032A>C	ENST00000441037.2	+	10	1587	c.1492A>C	c.(1492-1494)Acc>Ccc	p.T498P	AGBL1_ENST00000389298.3_Missense_Mutation_p.T229P|AGBL1_ENST00000421325.2_Missense_Mutation_p.T498P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	498					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCCTCCCACCACCCAGCCTAT	0.453																																						dbGAP											0													76.0	75.0	75.0					15																	86808032		1932	4133	6065	-	-	-	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1492A>C	15.37:g.86808032A>C	ENSP00000413001:p.Thr498Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T498P	ENST00000441037.2	37	c.1492	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	A	1.644	-0.515688	0.04200	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.28454	1.61;1.61	5.96	-1.7	0.08159	Armadillo-type fold (1);	0.936267	0.09074	N	0.852425	T	0.11196	0.0273	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.26815	-1.0092	10	0.29301	T	0.29	-2.128	1.0088	0.01492	0.2687:0.0996:0.2658:0.3659	.	197;229;498	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	527;498;229	ENSP00000397173:T498P;ENSP00000373949:T229P	ENSP00000373949:T229P	T	+	1	0	AGBL1	84609036	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.858000	0.04281	-0.130000	0.11599	-0.248000	0.11899	ACC	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	159	0.00	0	A	NM_152336		86808032	86808032	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	missense	109	30.43	49	SNP	0.000	C
AGBL5	60509	genome.wustl.edu	37	2	27276397	27276397	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27276397A>C	ENST00000360131.4	+	3	502	c.343A>C	c.(343-345)Acc>Ccc	p.T115P	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.T115P	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	115					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACTGCCCACCCGGCCACG	0.517																																						dbGAP											0													73.0	72.0	72.0					2																	27276397		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.343A>C	2.37:g.27276397A>C	ENSP00000353249:p.Thr115Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.T115P	ENST00000360131.4	37	c.343	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	A	11.67	1.708446	0.30322	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.14766	2.49;2.48	5.67	3.14	0.36123	.	0.467249	0.27134	N	0.020776	T	0.12050	0.0293	L	0.45137	1.4	0.21290	N	0.999733	B;B;B	0.32010	0.238;0.21;0.351	B;B;B	0.34931	0.094;0.124;0.192	T	0.18650	-1.0330	10	0.48119	T	0.1	-8.2129	6.4274	0.21778	0.7427:0.0:0.0787:0.1786	.	115;115;115	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	P	115	ENSP00000323681:T115P;ENSP00000353249:T115P	ENSP00000323681:T115P	T	+	1	0	AGBL5	27129901	0.777000	0.28628	0.592000	0.28758	0.977000	0.68977	3.853000	0.55941	0.337000	0.23665	0.459000	0.35465	ACC	AGBL5	-	NULL	ENSG00000084693		0.517	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	75	0.00	0	A	NM_021831		27276397	27276397	+1	no_errors	ENST00000360131	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	0.693	C
AGRN	375790	genome.wustl.edu	37	1	982714	982715	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:982714_982715insT	ENST00000379370.2	+	20	3446_3447	c.3396_3397insT	c.(3397-3399)gtgfs	p.V1133fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1133	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGCCACCAAGGTGTTCCAGGG	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	Exception_encountered	1.37:g.982714_982715insT	ENSP00000368678:p.Val1133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Ins	INS	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.V1132fs	ENST00000379370.2	37	c.3396_3397	CCDS30551.1	1																																																																																			AGRN	-	pfam_SEA,smart_SEA,pfscan_SEA	ENSG00000188157		0.658	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	9	0.00	0	-	NM_198576		982714	982715	+1	no_errors	ENST00000379370	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	0.964:0.814	T
AGTPBP1	23287	genome.wustl.edu	37	9	88207586	88207586	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:88207586A>C	ENST00000357081.3	-	19	2601	c.2457T>G	c.(2455-2457)ggT>ggG	p.G819G	AGTPBP1_ENST00000376083.3_Silent_p.G779G|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.G831G|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	819					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCTTTTGCCCACCTGCAGCAA	0.323																																						dbGAP											0													160.0	168.0	165.0					9																	88207586		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2457T>G	9.37:g.88207586A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.G831	ENST00000357081.3	37	c.2493		9																																																																																			AGTPBP1	-	NULL	ENSG00000135049		0.323	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	293	0.00	0	A	NM_015239		88207586	88207586	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	silent	228	10.94	28	SNP	0.985	C
AHNAK	79026	genome.wustl.edu	37	11	62285137	62285137	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62285137A>C	ENST00000378024.4	-	5	17026	c.16752T>G	c.(16750-16752)ggT>ggG	p.G5584G	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5584	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATGCCCTTCACCAAGGCTGA	0.527																																						dbGAP											0													154.0	167.0	163.0					11																	62285137		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16752T>G	11.37:g.62285137A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G5584	ENST00000378024.4	37	c.16752	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	379	0.52	2	A	NM_024060		62285137	62285137	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	268	10.03	30	SNP	0.000	C
AHNAK	79026	genome.wustl.edu	37	11	62285314	62285314	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62285314A>C	ENST00000378024.4	-	5	16849	c.16575T>G	c.(16573-16575)ggT>ggG	p.G5525G	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5525	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCAGACCACCTTTGATTT	0.493																																						dbGAP											0													113.0	120.0	118.0					11																	62285314		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16575T>G	11.37:g.62285314A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G5525	ENST00000378024.4	37	c.16575	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	310	0.00	0	A	NM_024060		62285314	62285314	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	201	16.60	40	SNP	0.001	C
AHNAK	79026	genome.wustl.edu	37	11	62287541	62287541	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62287541A>C	ENST00000378024.4	-	5	14622	c.14348T>G	c.(14347-14349)gTg>gGg	p.V4783G	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4783					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCATTTTCACCTTGGGCAT	0.552																																						dbGAP											0													227.0	220.0	222.0					11																	62287541		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14348T>G	11.37:g.62287541A>C	ENSP00000367263:p.Val4783Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4783G	ENST00000378024.4	37	c.14348	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540543	0.27563	.	.	ENSG00000124942	ENST00000378024	T	0.17370	2.28	4.79	4.79	0.61399	.	0.230057	0.28665	N	0.014553	T	0.45816	0.1361	M	0.89478	3.035	0.53005	D	0.999967	D	0.56287	0.975	D	0.63488	0.915	T	0.54043	-0.8352	10	0.54805	T	0.06	-9.4048	14.0191	0.64543	1.0:0.0:0.0:0.0	.	4783	Q09666	AHNK_HUMAN	G	4783	ENSP00000367263:V4783G	ENSP00000367263:V4783G	V	-	2	0	AHNAK	62044117	0.956000	0.32656	0.972000	0.41901	0.084000	0.17831	8.838000	0.92115	1.792000	0.52537	0.391000	0.25812	GTG	AHNAK	-	NULL	ENSG00000124942		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	408	0.24	1	A	NM_024060		62287541	62287541	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	201	12.12	28	SNP	0.998	C
AHNAK	79026	genome.wustl.edu	37	11	62289218	62289218	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62289218A>C	ENST00000378024.4	-	5	12945	c.12671T>G	c.(12670-12672)gTg>gGg	p.V4224G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4224					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAATGTCCACCTTGGGTCC	0.502																																						dbGAP											0													237.0	242.0	240.0					11																	62289218		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12671T>G	11.37:g.62289218A>C	ENSP00000367263:p.Val4224Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4224G	ENST00000378024.4	37	c.12671	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	a	11.41	1.629661	0.28978	.	.	ENSG00000124942	ENST00000378024	T	0.01406	4.93	4.55	4.55	0.56014	.	0.461885	0.15806	N	0.243703	T	0.03959	0.0111	M	0.90082	3.085	0.53005	D	0.999969	B	0.13594	0.008	B	0.14578	0.011	T	0.30822	-0.9965	10	0.14656	T	0.56	.	13.6494	0.62301	1.0:0.0:0.0:0.0	.	4224	Q09666	AHNK_HUMAN	G	4224	ENSP00000367263:V4224G	ENSP00000367263:V4224G	V	-	2	0	AHNAK	62045794	0.565000	0.26610	1.000000	0.80357	0.085000	0.17905	5.614000	0.67695	1.698000	0.51180	0.444000	0.29173	GTG	AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	456	0.86	4	A	NM_024060		62289218	62289218	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	245	12.46	35	SNP	1.000	C
AHNAK	79026	genome.wustl.edu	37	11	62289701	62289701	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62289701A>C	ENST00000378024.4	-	5	12462	c.12188T>G	c.(12187-12189)gTg>gGg	p.V4063G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4063					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCATTTTCACCTTGGGCAT	0.502																																						dbGAP											0													183.0	194.0	190.0					11																	62289701		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12188T>G	11.37:g.62289701A>C	ENSP00000367263:p.Val4063Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4063G	ENST00000378024.4	37	c.12188	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	3.697	-0.062345	0.07273	.	.	ENSG00000124942	ENST00000378024	T	0.17370	2.28	3.76	3.76	0.43208	.	1.680990	0.03734	N	0.254019	T	0.29882	0.0747	M	0.84511	2.7	0.25095	N	0.990828	B	0.15141	0.012	B	0.11329	0.006	T	0.50625	-0.8806	10	0.21540	T	0.41	.	12.1592	0.54096	1.0:0.0:0.0:0.0	.	4063	Q09666	AHNK_HUMAN	G	4063	ENSP00000367263:V4063G	ENSP00000367263:V4063G	V	-	2	0	AHNAK	62046277	0.065000	0.20965	0.976000	0.42696	0.127000	0.20565	3.622000	0.54217	1.355000	0.45865	0.148000	0.16107	GTG	AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	352	0.28	1	A	NM_024060		62289701	62289701	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	165	14.87	29	SNP	0.487	C
AHNAK	79026	genome.wustl.edu	37	11	62290148	62290148	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62290148A>C	ENST00000378024.4	-	5	12015	c.11741T>G	c.(11740-11742)gTg>gGg	p.V3914G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3914					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTAATATCCACTTTGGGGCC	0.473																																						dbGAP											0													197.0	217.0	210.0					11																	62290148		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11741T>G	11.37:g.62290148A>C	ENSP00000367263:p.Val3914Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3914G	ENST00000378024.4	37	c.11741	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	16.97	3.269772	0.59540	.	.	ENSG00000124942	ENST00000378024	T	0.01538	4.79	4.47	4.47	0.54385	.	0.709097	0.11450	N	0.562862	T	0.12774	0.0310	M	0.88640	2.97	0.52501	D	0.99995	D	0.71674	0.998	D	0.80764	0.994	T	0.01319	-1.1386	10	0.34782	T	0.22	.	13.4288	0.61042	1.0:0.0:0.0:0.0	.	3914	Q09666	AHNK_HUMAN	G	3914	ENSP00000367263:V3914G	ENSP00000367263:V3914G	V	-	2	0	AHNAK	62046724	0.714000	0.27936	0.998000	0.56505	0.779000	0.44077	5.982000	0.70532	1.651000	0.50673	0.408000	0.27601	GTG	AHNAK	-	NULL	ENSG00000124942		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	407	0.24	1	A	NM_024060		62290148	62290148	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	193	11.06	24	SNP	1.000	C
AHNAK	79026	genome.wustl.edu	37	11	62290189	62290189	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62290189A>C	ENST00000378024.4	-	5	11974	c.11700T>G	c.(11698-11700)ggT>ggG	p.G3900G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3900					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGCATGTCACCTTCCACTT	0.478																																						dbGAP											0													227.0	239.0	235.0					11																	62290189		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11700T>G	11.37:g.62290189A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G3900	ENST00000378024.4	37	c.11700	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	396	0.50	2	A	NM_024060		62290189	62290189	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	194	13.00	29	SNP	0.997	C
AHNAK	79026	genome.wustl.edu	37	11	62290469	62290469	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62290469A>C	ENST00000378024.4	-	5	11694	c.11420T>G	c.(11419-11421)gTg>gGg	p.V3807G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3807					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCATTTTCACCTTGGGCAT	0.532																																						dbGAP											0													265.0	271.0	269.0					11																	62290469		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11420T>G	11.37:g.62290469A>C	ENSP00000367263:p.Val3807Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3807G	ENST00000378024.4	37	c.11420	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	15.17	2.753299	0.49362	.	.	ENSG00000124942	ENST00000378024	T	0.17370	2.28	4.61	4.61	0.57282	.	1.705140	0.03943	N	0.287195	T	0.35740	0.0942	M	0.80982	2.52	0.40031	D	0.975535	P	0.44946	0.846	P	0.46975	0.533	T	0.23476	-1.0187	10	0.24483	T	0.36	.	13.9777	0.64284	1.0:0.0:0.0:0.0	.	3807	Q09666	AHNK_HUMAN	G	3807	ENSP00000367263:V3807G	ENSP00000367263:V3807G	V	-	2	0	AHNAK	62047045	0.915000	0.31059	0.916000	0.36221	0.981000	0.71138	7.350000	0.79385	1.855000	0.53841	0.444000	0.29173	GTG	AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	392	0.76	3	A	NM_024060		62290469	62290469	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	219	15.06	39	SNP	0.957	C
AHNAK	79026	genome.wustl.edu	37	11	62292535	62292535	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62292535A>C	ENST00000378024.4	-	5	9628	c.9354T>G	c.(9352-9354)ggT>ggG	p.G3118G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3118					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCATGTCACCTTCCACTT	0.478																																						dbGAP											0													222.0	239.0	233.0					11																	62292535		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9354T>G	11.37:g.62292535A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G3118	ENST00000378024.4	37	c.9354	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	373	0.53	2	A	NM_024060		62292535	62292535	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	201	14.04	33	SNP	0.972	C
AHNAK	79026	genome.wustl.edu	37	11	62292568	62292568	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62292568A>C	ENST00000378024.4	-	5	9595	c.9321T>G	c.(9319-9321)ggT>ggG	p.G3107G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3107					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCCATGTCACCCTTCACTT	0.453																																						dbGAP											0													232.0	245.0	241.0					11																	62292568		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9321T>G	11.37:g.62292568A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G3107	ENST00000378024.4	37	c.9321	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	371	0.00	0	A	NM_024060		62292568	62292568	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	198	10.31	23	SNP	0.011	C
AHNAK	79026	genome.wustl.edu	37	11	62292919	62292919	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62292919A>C	ENST00000378024.4	-	5	9244	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2990					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGAGGTCACCTTCCACTT	0.527																																						dbGAP											0													136.0	145.0	142.0					11																	62292919		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8970T>G	11.37:g.62292919A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G2990	ENST00000378024.4	37	c.8970	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	265	0.38	1	A	NM_024060		62292919	62292919	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	161	14.36	27	SNP	0.466	C
AHNAK	79026	genome.wustl.edu	37	11	62293310	62293310	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62293310A>C	ENST00000378024.4	-	5	8853	c.8579T>G	c.(8578-8580)gTa>gGa	p.V2860G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2860					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCCCTCTACCTTAGGGCC	0.453																																						dbGAP											0													160.0	162.0	162.0					11																	62293310		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8579T>G	11.37:g.62293310A>C	ENSP00000367263:p.Val2860Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2860G	ENST00000378024.4	37	c.8579	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	13.89	2.372588	0.42003	.	.	ENSG00000124942	ENST00000378024	T	0.01258	5.09	3.41	3.41	0.39046	.	.	.	.	.	T	0.07413	0.0187	M	0.87547	2.89	0.09310	N	0.999993	D	0.65815	0.995	P	0.59595	0.86	T	0.09079	-1.0691	9	0.45353	T	0.12	-0.3212	10.3973	0.44209	1.0:0.0:0.0:0.0	.	2860	Q09666	AHNK_HUMAN	G	2860	ENSP00000367263:V2860G	ENSP00000367263:V2860G	V	-	2	0	AHNAK	62049886	0.978000	0.34361	0.001000	0.08648	0.905000	0.53344	7.066000	0.76734	1.304000	0.44892	0.324000	0.21423	GTA	AHNAK	-	NULL	ENSG00000124942		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	239	0.00	0	A	NM_024060		62293310	62293310	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	140	17.65	30	SNP	0.004	C
AHNAK	79026	genome.wustl.edu	37	11	62294071	62294071	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62294071A>C	ENST00000378024.4	-	5	8092	c.7818T>G	c.(7816-7818)ggT>ggG	p.G2606G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2606					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGAGGTCACCTTCCACTT	0.527																																						dbGAP											0													164.0	172.0	170.0					11																	62294071		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7818T>G	11.37:g.62294071A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G2606	ENST00000378024.4	37	c.7818	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	273	0.36	1	A	NM_024060		62294071	62294071	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	163	16.84	33	SNP	0.103	C
AHNAK	79026	genome.wustl.edu	37	11	62295256	62295256	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62295256A>C	ENST00000378024.4	-	5	6907	c.6633T>G	c.(6631-6633)ggT>ggG	p.G2211G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2211					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCATTTCACCTTCTACCT	0.488																																						dbGAP											0													313.0	309.0	310.0					11																	62295256		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6633T>G	11.37:g.62295256A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G2211	ENST00000378024.4	37	c.6633	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	369	0.00	0	A	NM_024060		62295256	62295256	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	235	15.36	43	SNP	0.980	C
AHNAK	79026	genome.wustl.edu	37	11	62295263	62295263	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62295263A>C	ENST00000378024.4	-	5	6900	c.6626T>G	c.(6625-6627)gTa>gGa	p.V2209G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2209					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCACCTTCTACCTTGGGAAC	0.493																																						dbGAP											0													309.0	307.0	308.0					11																	62295263		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6626T>G	11.37:g.62295263A>C	ENSP00000367263:p.Val2209Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2209G	ENST00000378024.4	37	c.6626	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798859	0.31777	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01258	5.09	3.76	3.76	0.43208	.	1.125770	0.07145	U	0.848053	T	0.02848	0.0085	M	0.71206	2.165	0.23082	N	0.998325	P	0.38504	0.634	B	0.30495	0.116	T	0.46289	-0.9202	10	0.52906	T	0.07	.	12.9268	0.58264	1.0:0.0:0.0:0.0	.	2209	Q09666	AHNK_HUMAN	G	298;2209	ENSP00000367263:V2209G	ENSP00000244934:V298G	V	-	2	0	AHNAK	62051839	0.584000	0.26766	0.008000	0.14137	0.338000	0.28826	5.661000	0.68025	1.660000	0.50760	0.242000	0.17961	GTA	AHNAK	-	NULL	ENSG00000124942		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	349	0.28	1	A	NM_024060		62295263	62295263	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	246	13.54	39	SNP	0.135	C
AHNAK	79026	genome.wustl.edu	37	11	62296856	62296856	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62296856A>C	ENST00000378024.4	-	5	5307	c.5033T>G	c.(5032-5034)gTa>gGa	p.V1678G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1678					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCACCTTCTACCTTGGGCAC	0.498																																						dbGAP											0													313.0	316.0	315.0					11																	62296856		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5033T>G	11.37:g.62296856A>C	ENSP00000367263:p.Val1678Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V1678G	ENST00000378024.4	37	c.5033	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960269	0.34565	.	.	ENSG00000124942	ENST00000378024	T	0.01258	5.09	3.97	3.97	0.46021	.	0.746656	0.10865	U	0.625577	T	0.05868	0.0153	M	0.81497	2.545	0.49299	D	0.999777	B	0.23854	0.092	B	0.43990	0.438	T	0.24048	-1.0171	10	0.22706	T	0.39	.	11.3629	0.49655	1.0:0.0:0.0:0.0	.	1678	Q09666	AHNK_HUMAN	G	1678	ENSP00000367263:V1678G	ENSP00000367263:V1678G	V	-	2	0	AHNAK	62053432	0.055000	0.20627	0.214000	0.23707	0.063000	0.16089	3.507000	0.53371	1.550000	0.49438	0.164000	0.16699	GTA	AHNAK	-	NULL	ENSG00000124942		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	259	0.00	0	A	NM_024060		62296856	62296856	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	165	14.43	28	SNP	0.993	C
AHNAK	79026	genome.wustl.edu	37	11	62297351	62297351	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62297351A>C	ENST00000378024.4	-	5	4812	c.4538T>G	c.(4537-4539)gTa>gGa	p.V1513G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1513					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCATTTTTACCTTGGGCAT	0.502																																						dbGAP											0													199.0	211.0	207.0					11																	62297351		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4538T>G	11.37:g.62297351A>C	ENSP00000367263:p.Val1513Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V1513G	ENST00000378024.4	37	c.4538	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	a	16.22	3.062240	0.55432	.	.	ENSG00000124942	ENST00000378024	T	0.17370	2.28	4.34	4.34	0.51931	.	1.046590	0.07534	N	0.912685	T	0.29028	0.0721	M	0.75884	2.315	0.24788	N	0.992778	P	0.41450	0.75	B	0.43990	0.438	T	0.20472	-1.0274	10	0.22706	T	0.39	.	13.2403	0.59994	1.0:0.0:0.0:0.0	.	1513	Q09666	AHNK_HUMAN	G	1513	ENSP00000367263:V1513G	ENSP00000367263:V1513G	V	-	2	0	AHNAK	62053927	0.134000	0.22483	0.398000	0.26321	0.864000	0.49448	4.073000	0.57570	1.606000	0.50161	0.370000	0.22315	GTA	AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	246	0.00	0	A	NM_024060		62297351	62297351	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	162	12.23	23	SNP	0.242	C
AHNAK	79026	genome.wustl.edu	37	11	62297839	62297839	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62297839A>C	ENST00000378024.4	-	5	4324	c.4050T>G	c.(4048-4050)ggT>ggG	p.G1350G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1350					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCATTTCACCTTCTACCT	0.488																																						dbGAP											0													246.0	237.0	240.0					11																	62297839		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4050T>G	11.37:g.62297839A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1350	ENST00000378024.4	37	c.4050	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	261	0.38	1	A	NM_024060		62297839	62297839	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	151	13.22	23	SNP	1.000	C
AHNAK	79026	genome.wustl.edu	37	11	62298223	62298223	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62298223A>C	ENST00000378024.4	-	5	3940	c.3666T>G	c.(3664-3666)ggT>ggG	p.G1222G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1222					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCATTTCACCTTCTACCT	0.493																																						dbGAP											0													307.0	315.0	312.0					11																	62298223		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3666T>G	11.37:g.62298223A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1222	ENST00000378024.4	37	c.3666	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	276	0.36	1	A	NM_024060		62298223	62298223	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	195	13.27	30	SNP	0.998	C
AHNAK	79026	genome.wustl.edu	37	11	62298452	62298452	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62298452A>C	ENST00000378024.4	-	5	3711	c.3437T>G	c.(3436-3438)gTg>gGg	p.V1146G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1146					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCACATCCACTTCTGGGCC	0.552																																						dbGAP											0													149.0	146.0	147.0					11																	62298452		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3437T>G	11.37:g.62298452A>C	ENSP00000367263:p.Val1146Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V1146G	ENST00000378024.4	37	c.3437	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	a	9.911	1.209570	0.22289	.	.	ENSG00000124942	ENST00000378024	T	0.01484	4.84	4.88	3.76	0.43208	.	0.272173	0.19819	N	0.105350	T	0.11410	0.0278	M	0.93939	3.475	0.52501	D	0.999955	D	0.76494	0.999	D	0.83275	0.996	T	0.30357	-0.9981	10	0.15066	T	0.55	-16.4149	8.672	0.34156	0.9121:0.0:0.0879:0.0	.	1146	Q09666	AHNK_HUMAN	G	1146	ENSP00000367263:V1146G	ENSP00000367263:V1146G	V	-	2	0	AHNAK	62055028	0.837000	0.29446	0.099000	0.21106	0.060000	0.15804	3.889000	0.56212	0.736000	0.32559	0.524000	0.50904	GTG	AHNAK	-	NULL	ENSG00000124942		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	150	0.00	0	A	NM_024060		62298452	62298452	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	107	15.75	20	SNP	0.984	C
AHNAK2	113146	genome.wustl.edu	37	14	105408544	105408544	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:105408544A>C	ENST00000333244.5	-	7	13363	c.13244T>G	c.(13243-13245)gTg>gGg	p.V4415G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4415						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCACCTCCACCTTGGGGCC	0.607																																						dbGAP											0													86.0	92.0	90.0					14																	105408544		1966	4152	6118	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13244T>G	14.37:g.105408544A>C	ENSP00000353114:p.Val4415Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4415G	ENST00000333244.5	37	c.13244	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	G	2.760	-0.258054	0.05791	.	.	ENSG00000185567	ENST00000333244	T	0.00932	5.53	3.22	-6.44	0.01920	.	.	.	.	.	T	0.01156	0.0038	L	0.60067	1.865	0.25032	N	0.991269	B	0.22276	0.067	B	0.23419	0.046	T	0.33266	-0.9875	9	0.20046	T	0.44	.	10.5141	0.44879	0.4946:0.1102:0.3952:0.0	.	4415	Q8IVF2	AHNK2_HUMAN	G	4415	ENSP00000353114:V4415G	ENSP00000353114:V4415G	V	-	2	0	AHNAK2	104479589	0.020000	0.18652	0.000000	0.03702	0.002000	0.02628	1.700000	0.37815	-3.962000	0.00087	-2.071000	0.00384	GTG	AHNAK2	-	NULL	ENSG00000185567		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	66	0.00	0	A	NM_138420		105408544	105408544	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	43	29.51	18	SNP	0.000	C
AHNAK2	113146	genome.wustl.edu	37	14	105410617	105410617	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:105410617A>C	ENST00000333244.5	-	7	11290	c.11171T>G	c.(11170-11172)gTg>gGg	p.V3724G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3724						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCTCCACCTTGGGCAG	0.622																																						dbGAP											0													139.0	146.0	144.0					14																	105410617		1864	4090	5954	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11171T>G	14.37:g.105410617A>C	ENSP00000353114:p.Val3724Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3724G	ENST00000333244.5	37	c.11171	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	a	8.178	0.793115	0.16327	.	.	ENSG00000185567	ENST00000333244	T	0.01304	5.03	3.94	3.94	0.45596	.	.	.	.	.	T	0.06917	0.0176	M	0.79258	2.445	0.24779	N	0.992822	D	0.69078	0.997	P	0.62184	0.899	T	0.09773	-1.0659	9	0.49607	T	0.09	.	12.0325	0.53406	1.0:0.0:0.0:0.0	.	3724	Q8IVF2	AHNK2_HUMAN	G	3724	ENSP00000353114:V3724G	ENSP00000353114:V3724G	V	-	2	0	AHNAK2	104481662	0.090000	0.21635	0.971000	0.41717	0.116000	0.19942	3.880000	0.56145	1.444000	0.47605	0.397000	0.26171	GTG	AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	76	0.00	0	A	NM_138420		105410617	105410617	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	0.370	C
AHSG	197	genome.wustl.edu	37	3	186338544	186338544	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:186338544A>C	ENST00000273784.5	+	7	1008	c.932A>C	c.(931-933)cAc>cCc	p.H311P	AHSG_ENST00000411641.2_Missense_Mutation_p.H310P	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	310					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CACCAGTTGCACCGGGCGCAC	0.637																																						dbGAP											0													94.0	98.0	97.0					3																	186338544		2203	4300	6503	-	-	-	SO:0001583	missense	0			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.932A>C	3.37:g.186338544A>C	ENSP00000273784:p.His311Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.H310P	ENST00000273784.5	37	c.929		3	.	.	.	.	.	.	.	.	.	.	a	14.32	2.500968	0.44455	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.08102	3.14;3.13	5.33	2.94	0.34122	.	0.348028	0.28465	N	0.015245	T	0.20495	0.0493	M	0.64997	1.995	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.04333	-1.0959	10	0.66056	D	0.02	-8.1285	5.4774	0.16704	0.712:0.1953:0.0928:0.0	.	376;310;311	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	P	310;376;311	ENSP00000393887:H310P;ENSP00000273784:H311P	ENSP00000273784:H311P	H	+	2	0	AHSG	187821238	0.026000	0.19158	0.013000	0.15412	0.002000	0.02628	1.854000	0.39368	0.410000	0.25675	0.460000	0.39030	CAC	AHSG	-	NULL	ENSG00000145192		0.637	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	AHSG	HGNC	protein_coding	OTTHUMT00000344762.1	219	0.45	1	A	NM_001622		186338544	186338544	+1	no_errors	ENST00000411641	ensembl	human	known	69_37n	missense	189	14.54	33	SNP	0.016	C
AIM1	202	genome.wustl.edu	37	6	106987279	106987279	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:106987279T>G	ENST00000369066.3	+	7	3983	c.3496T>G	c.(3496-3498)Tgg>Ggg	p.W1166G	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCTATTTAGGTGGCTGATTTA	0.453																																						dbGAP											0													141.0	129.0	133.0					6																	106987279		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3495-1T>G	6.37:g.106987279T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.W1166G	ENST00000369066.3	37	c.3496	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297930	0.60086	.	.	ENSG00000112297	ENST00000369066	D	0.85702	-2.02	5.81	4.65	0.58169	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.105878	0.64402	D	0.000001	D	0.92097	0.7495	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93336	0.6705	10	0.87932	D	0	.	11.6843	0.51476	0.0:0.069:0.0:0.931	.	1166	Q9Y4K1	AIM1_HUMAN	G	1166	ENSP00000358062:W1166G	ENSP00000358062:W1166G	W	+	1	0	AIM1	107093972	1.000000	0.71417	0.915000	0.36163	0.648000	0.38561	7.200000	0.77838	1.018000	0.39521	0.533000	0.62120	TGG	AIM1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000112297		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	188	0.00	0	T		Missense_Mutation	106987279	106987279	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	missense	134	14.65	23	SNP	0.997	G
AIG1	51390	genome.wustl.edu	37	6	143654457	143654457	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:143654457A>C	ENST00000275235.4	+	5	579	c.554A>C	c.(553-555)tAc>tCc	p.Y185S	AIG1_ENST00000344492.5_Missense_Mutation_p.Y133S|AIG1_ENST00000357847.4_Missense_Mutation_p.Y185S			Q9NVV5	AIG1_HUMAN	androgen-induced 1	185						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		ATGTGGGTGTACCCTTTCCTG	0.493																																						dbGAP											0													247.0	232.0	237.0					6																	143654457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.554A>C	6.37:g.143654457A>C	ENSP00000275235:p.Tyr185Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.Y185S	ENST00000275235.4	37	c.554		6	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409171	0.83340	.	.	ENSG00000146416	ENST00000367601;ENST00000419072;ENST00000357847;ENST00000344492;ENST00000275235;ENST00000458219	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.46	5.46	0.80206	.	0.124234	0.56097	D	0.000031	T	0.79828	0.4513	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84880	0.0830	10	0.87932	D	0	-18.6489	15.5392	0.76027	1.0:0.0:0.0:0.0	.	133;185;181	Q9NVV5-3;Q9NVV5-2;E7ENG8	.;.;.	S	181;181;185;133;185;97	ENSP00000356573:Y181S;ENSP00000350509:Y185S;ENSP00000340090:Y133S;ENSP00000275235:Y185S;ENSP00000407817:Y97S	ENSP00000275235:Y185S	Y	+	2	0	AIG1	143696150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.108000	0.89559	2.066000	0.61787	0.528000	0.53228	TAC	AIG1	-	pfam_Far-17a_AIG1	ENSG00000146416		0.493	AIG1-005	KNOWN	basic	protein_coding	AIG1	HGNC	protein_coding	OTTHUMT00000042510.1	266	0.00	0	A	NM_016108		143654457	143654457	+1	no_errors	ENST00000275235	ensembl	human	known	69_37n	missense	217	13.20	33	SNP	1.000	C
AKAP1	8165	genome.wustl.edu	37	17	55184327	55184327	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:55184327T>G	ENST00000337714.3	+	2	1735	c.1502T>G	c.(1501-1503)gTg>gGg	p.V501G	AKAP1_ENST00000539273.1_Missense_Mutation_p.V501G|AKAP1_ENST00000571629.1_Missense_Mutation_p.V501G|AKAP1_ENST00000314126.3_Missense_Mutation_p.V501G|AKAP1_ENST00000572557.1_Missense_Mutation_p.V501G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	501					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTCCCTTTGGTGGCTTCTCCA	0.587																																						dbGAP											0													106.0	109.0	108.0					17																	55184327		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1502T>G	17.37:g.55184327T>G	ENSP00000337736:p.Val501Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.V501G	ENST00000337714.3	37	c.1502	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322627	0.23994	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.23348	2.37;1.91;2.37	5.96	-0.171	0.13331	.	0.874279	0.09925	N	0.737893	T	0.15652	0.0377	L	0.43152	1.355	0.09310	N	0.999996	B	0.16166	0.016	B	0.11329	0.006	T	0.36114	-0.9761	10	0.15952	T	0.53	-3.341	1.1099	0.01702	0.2468:0.1392:0.346:0.2679	.	501	Q92667	AKAP1_HUMAN	G	501;501;543;501	ENSP00000337736:V501G;ENSP00000314075:V501G;ENSP00000443139:V501G	ENSP00000314075:V501G	V	+	2	0	AKAP1	52539326	0.228000	0.23718	0.000000	0.03702	0.584000	0.36387	0.419000	0.21247	-0.096000	0.12329	0.533000	0.62120	GTG	AKAP1	-	NULL	ENSG00000121057		0.587	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	101	0.00	0	T			55184327	55184327	+1	no_errors	ENST00000337714	ensembl	human	known	69_37n	missense	142	11.80	19	SNP	0.000	G
AKAP12	9590	genome.wustl.edu	37	6	151670797	151670797	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:151670797T>G	ENST00000253332.1	+	3	1460	c.1271T>G	c.(1270-1272)gTg>gGg	p.V424G	AKAP12_ENST00000359755.5_Missense_Mutation_p.V319G|AKAP12_ENST00000354675.6_Missense_Mutation_p.V326G|AKAP12_ENST00000402676.2_Missense_Mutation_p.V424G|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	424	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTCAGCACCGTGGAGGAGAGA	0.507																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													63.0	67.0	65.0					6																	151670797		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1271T>G	6.37:g.151670797T>G	ENSP00000253332:p.Val424Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V424G	ENST00000253332.1	37	c.1271	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620851	0.28889	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10288	2.89;2.89;2.89;2.9	4.85	-6.14	0.02111	.	2.223490	0.02092	N	0.053202	T	0.02929	0.0087	L	0.54323	1.7	0.19300	N	0.999978	B;B;B	0.27625	0.178;0.178;0.183	B;B;B	0.25140	0.058;0.058;0.026	T	0.31336	-0.9947	10	0.23891	T	0.37	.	7.4232	0.27083	0.3555:0.1056:0.0:0.5389	.	319;326;424	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	G	424;424;326;319	ENSP00000384537:V424G;ENSP00000253332:V424G;ENSP00000346702:V326G;ENSP00000352794:V319G	ENSP00000253332:V424G	V	+	2	0	AKAP12	151712490	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.786000	0.00770	-1.112000	0.02984	-1.075000	0.02238	GTG	AKAP12	-	NULL	ENSG00000131016		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	112	0.00	0	T			151670797	151670797	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	0.000	G
AKAP12	9590	genome.wustl.edu	37	6	151670917	151670917	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:151670917T>G	ENST00000253332.1	+	3	1580	c.1391T>G	c.(1390-1392)gTg>gGg	p.V464G	AKAP12_ENST00000359755.5_Missense_Mutation_p.V359G|AKAP12_ENST00000354675.6_Missense_Mutation_p.V366G|AKAP12_ENST00000402676.2_Missense_Mutation_p.V464G|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	464	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGGAGCTGGTGAAGCTCAAA	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													75.0	75.0	75.0					6																	151670917		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1391T>G	6.37:g.151670917T>G	ENSP00000253332:p.Val464Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V464G	ENST00000253332.1	37	c.1391	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736657	0.30774	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08102	3.13;3.13;3.14;3.14	4.94	-9.89	0.00464	.	1.860430	0.03394	N	0.202326	T	0.01320	0.0043	L	0.36672	1.1	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.34576	-0.9823	10	0.36615	T	0.2	.	1.1641	0.01811	0.2404:0.3065:0.2428:0.2103	.	359;366;464	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	G	464;464;366;359	ENSP00000384537:V464G;ENSP00000253332:V464G;ENSP00000346702:V366G;ENSP00000352794:V359G	ENSP00000253332:V464G	V	+	2	0	AKAP12	151712610	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.301000	0.02749	-2.294000	0.00663	-1.510000	0.00946	GTG	AKAP12	-	NULL	ENSG00000131016		0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	123	0.81	1	T			151670917	151670917	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	130	14.47	22	SNP	0.000	G
AKAP12	9590	genome.wustl.edu	37	6	151670989	151670989	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:151670989T>G	ENST00000253332.1	+	3	1652	c.1463T>G	c.(1462-1464)gTg>gGg	p.V488G	AKAP12_ENST00000359755.5_Missense_Mutation_p.V383G|AKAP12_ENST00000354675.6_Missense_Mutation_p.V390G|AKAP12_ENST00000402676.2_Missense_Mutation_p.V488G|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	488	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GATGAGAAGGTGCTGTCCAAA	0.527																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													99.0	102.0	101.0					6																	151670989		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1463T>G	6.37:g.151670989T>G	ENSP00000253332:p.Val488Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V488G	ENST00000253332.1	37	c.1463	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654773	0.29425	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08008	3.14;3.14;3.15;3.15	4.97	-9.14	0.00701	.	1.897340	0.02825	N	0.125959	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.27625	0.178;0.178;0.183	B;B;B	0.31101	0.124;0.124;0.058	T	0.10941	-1.0608	10	0.23891	T	0.37	.	12.3984	0.55399	0.0812:0.2201:0.0:0.6988	.	383;390;488	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	G	488;488;390;383	ENSP00000384537:V488G;ENSP00000253332:V488G;ENSP00000346702:V390G;ENSP00000352794:V383G	ENSP00000253332:V488G	V	+	2	0	AKAP12	151712682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.247000	0.00541	-2.113000	0.00833	-1.151000	0.01829	GTG	AKAP12	-	NULL	ENSG00000131016		0.527	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	147	0.67	1	T			151670989	151670989	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	140	14.63	24	SNP	0.000	G
AKAP12	9590	genome.wustl.edu	37	6	151671392	151671392	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:151671392T>G	ENST00000253332.1	+	3	2055	c.1866T>G	c.(1864-1866)cgT>cgG	p.R622R	AKAP12_ENST00000359755.5_Silent_p.R517R|AKAP12_ENST00000354675.6_Silent_p.R524R|AKAP12_ENST00000402676.2_Silent_p.R622R			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	622	AKAP 1.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCAAGAAGCGTGTTAGACGGC	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													66.0	64.0	64.0					6																	151671392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1866T>G	6.37:g.151671392T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.R622	ENST00000253332.1	37	c.1866	CCDS5229.1	6																																																																																			AKAP12	-	pfam_Pkinase-A_anch_WSK-motif	ENSG00000131016		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	100	0.00	0	T			151671392	151671392	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	silent	82	15.31	15	SNP	0.000	G
AKAP12	9590	genome.wustl.edu	37	6	151673014	151673014	+	Missense_Mutation	SNP	T	T	G	rs565397335		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:151673014T>G	ENST00000253332.1	+	3	3677	c.3488T>G	c.(3487-3489)gTg>gGg	p.V1163G	AKAP12_ENST00000359755.5_Missense_Mutation_p.V1058G|AKAP12_ENST00000354675.6_Missense_Mutation_p.V1065G|AKAP12_ENST00000402676.2_Missense_Mutation_p.V1163G			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1163					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCTGACTCGGTGGAAACCCCT	0.522																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													110.0	108.0	109.0					6																	151673014		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3488T>G	6.37:g.151673014T>G	ENSP00000253332:p.Val1163Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V1163G	ENST00000253332.1	37	c.3488	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	T	9.188	1.025388	0.19512	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	4.62	-0.691	0.11305	.	1.538700	0.04446	N	0.371747	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.46707	-0.9172	10	0.33940	T	0.23	.	2.2347	0.04005	0.1666:0.4457:0.106:0.2817	.	1058;1065;1163	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	G	1163;1163;1065;1058	ENSP00000384537:V1163G;ENSP00000253332:V1163G;ENSP00000346702:V1065G;ENSP00000352794:V1058G	ENSP00000253332:V1163G	V	+	2	0	AKAP12	151714707	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.289000	0.18957	0.067000	0.16545	-1.294000	0.01345	GTG	AKAP12	-	NULL	ENSG00000131016		0.522	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	205	0.00	0	T			151673014	151673014	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	138	19.65	34	SNP	0.000	G
AKAP13	11214	genome.wustl.edu	37	15	86123572	86123572	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:86123572T>G	ENST00000394518.2	+	7	2368	c.2273T>G	c.(2272-2274)gTg>gGg	p.V758G	AKAP13_ENST00000361243.2_Missense_Mutation_p.V758G|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	758					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGCTTGAGGTGGTTTCACAT	0.428																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													76.0	78.0	78.0					15																	86123572		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2273T>G	15.37:g.86123572T>G	ENSP00000378026:p.Val758Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.V758G	ENST00000394518.2	37	c.2273	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	T	7.915	0.737420	0.15574	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.11930	2.73;2.74	5.63	-11.3	0.00108	.	.	.	.	.	T	0.06371	0.0164	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.24426	0.063;0.103	B;B	0.25140	0.026;0.058	T	0.16689	-1.0394	9	0.23302	T	0.38	.	4.0036	0.09590	0.2975:0.0686:0.4496:0.1844	.	758;758	Q12802;Q12802-2	AKP13_HUMAN;.	G	758;758;757;757	ENSP00000354718:V758G;ENSP00000378026:V758G	ENSP00000354718:V758G	V	+	2	0	AKAP13	83924576	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.393000	0.02521	-2.520000	0.00498	-0.316000	0.08728	GTG	AKAP13	-	NULL	ENSG00000170776		0.428	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	212	0.00	0	T	NM_007200		86123572	86123572	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	160	12.09	22	SNP	0.000	G
AKAP13	11214	genome.wustl.edu	37	15	86124248	86124248	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:86124248A>C	ENST00000394518.2	+	7	3044	c.2949A>C	c.(2947-2949)tcA>tcC	p.S983S	AKAP13_ENST00000361243.2_Silent_p.S983S|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	983					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAAGTAATTCACCGGGTGCAT	0.488																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													76.0	79.0	78.0					15																	86124248		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2949A>C	15.37:g.86124248A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S983	ENST00000394518.2	37	c.2949	CCDS32319.1	15																																																																																			AKAP13	-	NULL	ENSG00000170776		0.488	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	170	0.58	1	A	NM_007200		86124248	86124248	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	silent	117	13.97	19	SNP	0.000	C
AKAP4	8852	genome.wustl.edu	37	X	49959104	49959104	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:49959104A>C	ENST00000376056.2	-	5	400				AKAP4_ENST00000376064.3_Intron|AKAP4_ENST00000481402.1_Intron|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AAAGAAGAAGACCTATCCATA	0.398																																						dbGAP											0													17.0	16.0	16.0					X																	49959104		2202	4297	6499	-	-	-	SO:0001627	intron_variant	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.250-17T>G	X.37:g.49959104A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376056.2	37	NULL	CCDS14330.1	X																																																																																			AKAP4	-	-	ENSG00000147081		0.398	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	67	0.00	0	A	NM_003886		49959104	49959104	-1	no_errors	ENST00000480926	ensembl	human	known	69_37n	rna	32	34.69	17	SNP	0.075	C
AKAP6	9472	genome.wustl.edu	37	14	33015946	33015946	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:33015946T>G	ENST00000280979.4	+	4	2257	c.2087T>G	c.(2086-2088)gTg>gGg	p.V696G	AKAP6_ENST00000557272.1_Missense_Mutation_p.V696G|AKAP6_ENST00000557354.1_Missense_Mutation_p.V696G	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	696					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTAGGCAGGGTGTCTCCAAGC	0.443																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													106.0	99.0	101.0					14																	33015946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2087T>G	14.37:g.33015946T>G	ENSP00000280979:p.Val696Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.V696G	ENST00000280979.4	37	c.2087	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965344	0.34659	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.39787	1.06;1.06;1.06	6.17	0.901	0.19284	.	0.658554	0.15152	N	0.277641	T	0.35307	0.0927	L	0.51422	1.61	0.42561	D	0.993141	B;B	0.24823	0.047;0.112	B;B	0.21708	0.016;0.036	T	0.21690	-1.0238	10	0.66056	D	0.02	-1.6202	9.7078	0.40227	0.0:0.2777:0.0:0.7223	.	696;696	A7E242;Q13023	.;AKAP6_HUMAN	G	696	ENSP00000280979:V696G;ENSP00000450531:V696G;ENSP00000451247:V696G	ENSP00000280979:V696G	V	+	2	0	AKAP6	32085697	0.834000	0.29399	0.920000	0.36463	0.998000	0.95712	1.224000	0.32539	0.136000	0.18733	0.533000	0.62120	GTG	AKAP6	-	NULL	ENSG00000151320		0.443	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	209	0.48	1	T	NM_004274		33015946	33015946	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	123	23.31	38	SNP	0.652	G
AKAP5	9495	genome.wustl.edu	37	14	64935421	64935421	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:64935421T>G	ENST00000394718.4	+	2	687	c.309T>G	c.(307-309)ggT>ggG	p.G103G	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Silent_p.G103G|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	103	AKAP.|Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CATTGGAGGGTGAAATGCAAC	0.473																																						dbGAP											0													87.0	99.0	95.0					14																	64935421		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.309T>G	14.37:g.64935421T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB8	Silent	SNP	pfam_Pkinase-A_anch_WSK-motif	p.G103	ENST00000394718.4	37	c.309	CCDS9764.1	14																																																																																			AKAP5	-	NULL	ENSG00000179841		0.473	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	HGNC	protein_coding	OTTHUMT00000268070.3	124	0.80	1	T			64935421	64935421	+1	no_errors	ENST00000320636	ensembl	human	known	69_37n	silent	70	21.35	19	SNP	0.004	G
AKR1B1	231	genome.wustl.edu	37	7	134136369	134136369	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:134136369A>C	ENST00000285930.4	-	2	282	c.203T>G	c.(202-204)gTg>gGg	p.V68G	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	68					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CTCACGCTTCACCACCTGCTC	0.592																																						dbGAP											0													120.0	97.0	105.0					7																	134136369		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.203T>G	7.37:g.134136369A>C	ENSP00000285930:p.Val68Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.V68G	ENST00000285930.4	37	c.203	CCDS5831.1	7	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568983	0.86439	.	.	ENSG00000085662	ENST00000285930	T	0.24723	1.84	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.92691	3.335	0.80722	D	1	D	0.67145	0.996	D	0.91635	0.999	T	0.71484	-0.4579	10	0.87932	D	0	.	14.6092	0.68504	1.0:0.0:0.0:0.0	.	68	P15121	ALDR_HUMAN	G	68	ENSP00000285930:V68G	ENSP00000285930:V68G	V	-	2	0	AKR1B1	133786909	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.287000	0.95975	2.109000	0.64355	0.459000	0.35465	GTG	AKR1B1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000085662		0.592	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B1	HGNC	protein_coding	OTTHUMT00000339448.2	81	0.00	0	A	NM_001628		134136369	134136369	-1	no_errors	ENST00000285930	ensembl	human	known	69_37n	missense	75	16.67	15	SNP	1.000	C
AKR1B10	57016	genome.wustl.edu	37	7	134221418	134221418	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:134221418T>G	ENST00000359579.4	+	5	766	c.446T>G	c.(445-447)gTg>gGg	p.V149G	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	149					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GAGGAGCTGGTGGATGAGGGG	0.517																																						dbGAP											0													67.0	70.0	69.0					7																	134221418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.446T>G	7.37:g.134221418T>G	ENSP00000352584:p.Val149Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.V149G	ENST00000359579.4	37	c.446	CCDS5832.1	7	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907269	0.72868	.	.	ENSG00000198074	ENST00000359579	T	0.27557	1.66	4.75	4.75	0.60458	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76887	-0.2793	10	0.59425	D	0.04	.	13.7599	0.62959	0.0:0.0:0.0:1.0	.	149	O60218	AK1BA_HUMAN	G	149	ENSP00000352584:V149G	ENSP00000352584:V149G	V	+	2	0	AKR1B10	133871958	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.378000	0.79679	1.902000	0.55061	0.454000	0.30748	GTG	AKR1B10	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000198074		0.517	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B10	HGNC	protein_coding	OTTHUMT00000339615.1	117	0.85	1	T	NM_020299		134221418	134221418	+1	no_errors	ENST00000359579	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	1.000	G
AKR1CL1	340811	genome.wustl.edu	37	10	5204824	5204824	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:5204824T>G	ENST00000334314.3	-	2	329	c.253A>C	c.(253-255)Acc>Ccc	p.T85P	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	85						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ACCTTGATGGTGTAGAATATT	0.383																																					Ovarian(129;1623 1737 25446 28757 47467)	dbGAP											0													207.0	195.0	199.0					10																	5204824		2203	4300	6503	-	-	-	SO:0001583	missense	0					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.253A>C	10.37:g.5204824T>G	ENSP00000334626:p.Thr85Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T85P	ENST00000334314.3	37	c.253		10	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284870	0.40394	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.55413	0.52;0.52	3.33	3.33	0.38152	.	0.000000	0.47852	U	0.000214	T	0.54431	0.1858	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51608	-0.8684	7	0.87932	D	0	.	9.9479	0.41621	0.0:0.0:0.0:1.0	.	.	.	.	P	85	ENSP00000417935:T85P;ENSP00000334626:T85P	ENSP00000334626:T85P	T	-	1	0	AKR1CL1	5194824	0.921000	0.31238	0.064000	0.19789	0.029000	0.11900	0.809000	0.27168	1.301000	0.44836	0.254000	0.18369	ACC	AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000196326		0.383	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		283	0.00	0	T	NR_027916		5204824	5204824	-1	no_errors	ENST00000334314	ensembl	human	known	69_37n	missense	237	13.19	36	SNP	0.292	G
ALAS1	211	genome.wustl.edu	37	3	52240018	52240018	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52240018A>C	ENST00000394965.2	+	7	1324	c.964A>C	c.(964-966)Acc>Ccc	p.T322P	ALAS1_ENST00000310271.2_Missense_Mutation_p.T322P|ALAS1_ENST00000469224.1_Missense_Mutation_p.T322P|ALAS1_ENST00000484952.1_Missense_Mutation_p.T322P	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	322					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AACCCTCTTCACCCTGGCTAA	0.483																																						dbGAP											0													145.0	135.0	139.0					3																	52240018		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.964A>C	3.37:g.52240018A>C	ENSP00000378416:p.Thr322Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.T322P	ENST00000394965.2	37	c.964	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926020	0.92319	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96713	0.9527	10	0.87932	D	0	-32.0152	16.18	0.81892	1.0:0.0:0.0:0.0	.	339;322	B4DVA0;P13196	.;HEM1_HUMAN	P	322	ENSP00000417719:T322P;ENSP00000378416:T322P;ENSP00000309259:T322P;ENSP00000418779:T322P	ENSP00000309259:T322P	T	+	1	0	ALAS1	52215058	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.268000	0.95675	2.225000	0.72522	0.383000	0.25322	ACC	ALAS1	-	pfam_Aminotransferase_I/II,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000023330		0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	133	0.00	0	A			52240018	52240018	+1	no_errors	ENST00000310271	ensembl	human	known	69_37n	missense	117	18.75	27	SNP	1.000	C
ALAS1	211	genome.wustl.edu	37	3	52242155	52242155	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52242155A>C	ENST00000394965.2	+	9	1582	c.1222A>C	c.(1222-1224)Acc>Ccc	p.T408P	ALAS1_ENST00000310271.2_Missense_Mutation_p.T408P|ALAS1_ENST00000469224.1_Missense_Mutation_p.T408P|ALAS1_ENST00000484952.1_Missense_Mutation_p.T408P	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	408					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGGAGCAATCACCTTCGTGGA	0.562																																						dbGAP											0													134.0	125.0	128.0					3																	52242155		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1222A>C	3.37:g.52242155A>C	ENSP00000378416:p.Thr408Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.T408P	ENST00000394965.2	37	c.1222	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768690	0.90020	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.092851	0.64402	D	0.000001	D	0.98400	0.9468	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99624	1.0984	10	0.87932	D	0	-32.7359	14.5824	0.68300	1.0:0.0:0.0:0.0	.	425;408	B4DVA0;P13196	.;HEM1_HUMAN	P	408	ENSP00000417719:T408P;ENSP00000378416:T408P;ENSP00000309259:T408P;ENSP00000418779:T408P	ENSP00000309259:T408P	T	+	1	0	ALAS1	52217195	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.324000	0.96373	1.922000	0.55676	0.533000	0.62120	ACC	ALAS1	-	pfam_Aminotransferase_I/II,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000023330		0.562	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	112	0.88	1	A			52242155	52242155	+1	no_errors	ENST00000310271	ensembl	human	known	69_37n	missense	101	17.07	21	SNP	1.000	C
ALAS1	211	genome.wustl.edu	37	3	52246404	52246404	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52246404A>C	ENST00000394965.2	+	11	2090	c.1730A>C	c.(1729-1731)cAc>cCc	p.H577P	ALAS1_ENST00000310271.2_Missense_Mutation_p.H577P|ALAS1_ENST00000469224.1_Missense_Mutation_p.H577P|ALAS1_ENST00000484952.1_Missense_Mutation_p.H577P	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	577					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CCCACCCCTCACCACACACCC	0.512																																						dbGAP											0													226.0	245.0	239.0					3																	52246404		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1730A>C	3.37:g.52246404A>C	ENSP00000378416:p.His577Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.H577P	ENST00000394965.2	37	c.1730	CCDS2847.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.511511|4.511511	0.85389|0.85389	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000493402	D;D;D;D|.	0.90504|.	-2.68;-2.68;-2.68;-2.68|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83995|0.83995	0.5375|0.5375	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	D;D|.	0.61080|.	0.989;0.972|.	D;D|.	0.64410|.	0.925;0.925|.	D|D	0.87835|0.87835	0.2647|0.2647	10|5	0.36615|.	T|.	0.2|.	-17.7166|-17.7166	15.1028|15.1028	0.72296|0.72296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;577|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	P|P	577|174	ENSP00000417719:H577P;ENSP00000378416:H577P;ENSP00000309259:H577P;ENSP00000418779:H577P|.	ENSP00000309259:H577P|.	H|T	+|+	2|1	0|0	ALAS1|ALAS1	52221444|52221444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.480000|7.480000	0.81109|0.81109	1.964000|1.964000	0.57103|0.57103	0.533000|0.533000	0.62120|0.62120	CAC|ACC	ALAS1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000023330		0.512	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	454	0.44	2	A			52246404	52246404	+1	no_errors	ENST00000310271	ensembl	human	known	69_37n	missense	561	11.79	75	SNP	1.000	C
ALDH1L1	10840	genome.wustl.edu	37	3	125879694	125879694	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:125879694A>C	ENST00000393434.2	-	2	477		c.e2+1		ALDH1L1_ENST00000273450.3_Splice_Site|ALDH1L1_ENST00000393431.2_Splice_Site|ALDH1L1_ENST00000452905.2_Splice_Site|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000455064.2_Splice_Site|ALDH1L1_ENST00000472186.1_Splice_Site	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGCTCACTCACCCAGGGGGT	0.602																																						dbGAP											0													111.0	106.0	108.0					3																	125879694		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.127+1T>G	3.37:g.125879694A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG36|E9PBX3|Q68CS1	Splice_Site	SNP	-	e1+2	ENST00000393434.2	37	c.127+2	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652435	0.47362	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356;ENST00000509952	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2714	0.54708	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH1L1	127362384	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	8.771000	0.91751	1.996000	0.58369	0.383000	0.25322	.	ALDH1L1	-	-	ENSG00000144908		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	46	0	0	A	NM_012190	Intron	125879694	125879694	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	splice_site	39	22	11	SNP	1.000	C
ALDH4A1	8659	genome.wustl.edu	37	1	19201049	19201049	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19201049A>C	ENST00000375341.3	-	14	1744	c.1487T>G	c.(1486-1488)gTg>gGg	p.V496G	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V436G|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V496G|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V445G	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	496					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCTCAGCACCTTTGTGGC	0.617																																						dbGAP											0													183.0	149.0	160.0					1																	19201049		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1487T>G	1.37:g.19201049A>C	ENSP00000364490:p.Val496Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1	p.V496G	ENST00000375341.3	37	c.1487	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	A	8.823	0.937992	0.18206	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.75589	-0.95;-0.95;1.6;-0.95	5.36	4.24	0.50183	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.644592	0.17853	N	0.159761	T	0.58750	0.2144	L	0.28115	0.83	0.41986	D	0.99082	B	0.19935	0.04	B	0.29440	0.102	T	0.53947	-0.8366	10	0.24483	T	0.36	-25.7928	5.0242	0.14376	0.7201:0.1868:0.0931:0.0	.	496	P30038	AL4A1_HUMAN	G	496;496;445;436	ENSP00000290597:V496G;ENSP00000364490:V496G;ENSP00000446071:V445G;ENSP00000442988:V436G	ENSP00000290597:V496G	V	-	2	0	ALDH4A1	19073636	0.387000	0.25188	0.907000	0.35723	0.356000	0.29392	3.436000	0.52856	2.025000	0.59659	0.459000	0.35465	GTG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1	ENSG00000159423		0.617	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	82	0.00	0	A			19201049	19201049	-1	no_errors	ENST00000290597	ensembl	human	known	69_37n	missense	77	18.95	18	SNP	0.772	C
ALG13	79868	genome.wustl.edu	37	X	110970143	110970143	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:110970143A>C	ENST00000394780.3	+	16	1848	c.1836A>C	c.(1834-1836)ccA>ccC	p.P612P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.P508P	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	612					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCCTCCTCCCACCCAGGCTGC	0.468																																						dbGAP											0													224.0	194.0	203.0					X																	110970143		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1836A>C	X.37:g.110970143A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P508	ENST00000394780.3	37	c.1524	CCDS55477.1	X																																																																																			ALG13	-	NULL	ENSG00000101901		0.468	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	436	0.46	2	A	NM_018466		110970143	110970143	+1	no_errors	ENST00000251943	ensembl	human	known	69_37n	silent	295	14.20	49	SNP	0.280	C
ALMS1	7840	genome.wustl.edu	37	2	73678978	73678978	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73678978A>G	ENST00000264448.6	+	8	5432	c.5321A>G	c.(5320-5322)gAt>gGt	p.D1774G	ALMS1_ENST00000377715.1_Missense_Mutation_p.D1774G|ALMS1_ENST00000409009.1_Missense_Mutation_p.D1732G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1774	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGTTGCCAGATAGTCATCTA	0.438																																						dbGAP											0													103.0	104.0	103.0					2																	73678978		1842	4091	5933	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5321A>G	2.37:g.73678978A>G	ENSP00000264448:p.Asp1774Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.D1774G	ENST00000264448.6	37	c.5321	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	13.49	2.253330	0.39797	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.20881	2.94;2.94;2.04	3.97	1.51	0.23008	.	0.509728	0.18308	N	0.145215	T	0.31796	0.0808	L	0.55990	1.75	0.09310	N	1	D;D;D	0.76494	0.999;0.974;0.999	D;P;D	0.71656	0.974;0.736;0.971	T	0.07888	-1.0749	10	0.49607	T	0.09	.	3.2498	0.06810	0.6851:0.0:0.1115:0.2033	.	1774;1732;1774	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	1732;1774;1774	ENSP00000386627:D1732G;ENSP00000264448:D1774G;ENSP00000366944:D1774G	ENSP00000264448:D1774G	D	+	2	0	ALMS1	73532486	0.000000	0.05858	0.023000	0.16930	0.028000	0.11728	-0.813000	0.04491	0.301000	0.22738	0.533000	0.62120	GAT	ALMS1	-	NULL	ENSG00000116127		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	221	0.00	0	A	NM_015120		73678978	73678978	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	185	11.00	23	SNP	0.031	G
ALMS1	7840	genome.wustl.edu	37	2	73717232	73717232	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73717232A>C	ENST00000264448.6	+	10	8254	c.8143A>C	c.(8143-8145)Act>Cct	p.T2715P	ALMS1_ENST00000409009.1_Missense_Mutation_p.T2673P|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2715					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TACCTCCATCACTTTTTCATC	0.423																																						dbGAP											0													163.0	149.0	153.0					2																	73717232		1856	4102	5958	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8143A>C	2.37:g.73717232A>C	ENSP00000264448:p.Thr2715Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.T2715P	ENST00000264448.6	37	c.8143	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070587	0.55539	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.12569	2.67;2.67	4.32	3.18	0.36537	.	0.000000	0.48767	D	0.000171	T	0.24890	0.0604	L	0.48642	1.525	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.956;0.956	T	0.01242	-1.1408	10	0.87932	D	0	.	6.629	0.22847	0.8941:0.0:0.1059:0.0	.	2715;2673;2715	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	P	2673;2715	ENSP00000386627:T2673P;ENSP00000264448:T2715P	ENSP00000264448:T2715P	T	+	1	0	ALMS1	73570740	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.100000	0.57762	0.988000	0.38734	0.455000	0.32223	ACT	ALMS1	-	NULL	ENSG00000116127		0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	472	0.42	2	A	NM_015120		73717232	73717232	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	327	11.02	41	SNP	0.999	C
ALMS1	7840	genome.wustl.edu	37	2	73799858	73799858	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73799858T>G	ENST00000264448.6	+	16	10962	c.10851T>G	c.(10849-10851)ggT>ggG	p.G3617G	ALMS1_ENST00000409009.1_Silent_p.G3575G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3617					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGAGTTGGGTGACAGGAAAG	0.478																																						dbGAP											0													104.0	106.0	105.0					2																	73799858		1994	4174	6168	-	-	-	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10851T>G	2.37:g.73799858T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.G3617	ENST00000264448.6	37	c.10851	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	311	0.64	2	T	NM_015120		73799858	73799858	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	silent	144	16.76	29	SNP	0.000	G
ALMS1	7840	genome.wustl.edu	37	2	73799881	73799881	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73799881T>G	ENST00000264448.6	+	16	10985	c.10874T>G	c.(10873-10875)gTg>gGg	p.V3625G	ALMS1_ENST00000409009.1_Missense_Mutation_p.V3583G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3625					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGTCCTTGGTGGACCGACTT	0.473																																						dbGAP											0													112.0	113.0	113.0					2																	73799881		1982	4165	6147	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10874T>G	2.37:g.73799881T>G	ENSP00000264448:p.Val3625Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.V3625G	ENST00000264448.6	37	c.10874	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875665	0.72180	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.13196	2.61;2.61	5.66	5.66	0.87406	.	0.000000	0.43416	D	0.000578	T	0.30978	0.0782	L	0.46157	1.445	0.53005	D	0.999965	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.991;0.99	T	0.01675	-1.1298	10	0.87932	D	0	.	13.8529	0.63508	0.0:0.0:0.0:1.0	.	3625;3583;3625	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	3583;3625	ENSP00000386627:V3583G;ENSP00000264448:V3625G	ENSP00000264448:V3625G	V	+	2	0	ALMS1	73653389	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.641000	0.67881	2.173000	0.68751	0.533000	0.62120	GTG	ALMS1	-	NULL	ENSG00000116127		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	325	0.31	1	T	NM_015120		73799881	73799881	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	164	12.11	23	SNP	1.000	G
ALOX12	239	genome.wustl.edu	37	17	6903731	6903731	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6903731A>C	ENST00000251535.6	+	7	937	c.884A>C	c.(883-885)tAc>tCc	p.Y295S	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	295	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAGAAGCAATACCTGGCTGCC	0.552																																						dbGAP											0													137.0	125.0	129.0					17																	6903731		2203	4300	6503	-	-	-	SO:0001583	missense	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.884A>C	17.37:g.6903731A>C	ENSP00000251535:p.Tyr295Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.Y295S	ENST00000251535.6	37	c.884	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	a	22.8	4.342721	0.82022	.	.	ENSG00000108839	ENST00000251535	T	0.08193	3.12	4.92	4.92	0.64577	Lipoxygenase, C-terminal (3);	0.144757	0.47852	D	0.000206	T	0.35451	0.0932	M	0.93375	3.41	0.41882	D	0.990324	D	0.63046	0.992	D	0.63703	0.917	T	0.48068	-0.9067	10	0.87932	D	0	0.0368	12.8338	0.57761	1.0:0.0:0.0:0.0	.	295	P18054	LOX12_HUMAN	S	295	ENSP00000251535:Y295S	ENSP00000251535:Y295S	Y	+	2	0	ALOX12	6844455	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.923000	0.87546	2.196000	0.70406	0.444000	0.29173	TAC	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml	ENSG00000108839		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	361	0.55	2	A			6903731	6903731	+1	no_errors	ENST00000251535	ensembl	human	known	69_37n	missense	302	10.26	35	SNP	1.000	C
ALOX12	239	genome.wustl.edu	37	17	6904980	6904980	+	Silent	SNP	A	A	C	rs578043025		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6904980A>C	ENST00000251535.6	+	8	1064	c.1011A>C	c.(1009-1011)ccA>ccC	p.P337P	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	337	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGACCCCCCACTTGCCTGGC	0.527																																						dbGAP											0													143.0	143.0	143.0					17																	6904980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1011A>C	17.37:g.6904980A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95569|Q6ISF8|Q9UQM4	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.P337	ENST00000251535.6	37	c.1011	CCDS11084.1	17																																																																																			ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C	ENSG00000108839		0.527	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	466	0.85	4	A			6904980	6904980	+1	no_errors	ENST00000251535	ensembl	human	known	69_37n	silent	299	10.42	35	SNP	0.862	C
ALOX12	239	genome.wustl.edu	37	17	6908615	6908615	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6908615A>C	ENST00000251535.6	+	9	1254	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	401	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GGAAATCAACACCCGGGCCCG	0.562											OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													163.0	170.0	168.0					17																	6908615		2203	4300	6503	-	-	-	SO:0001583	missense	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1201A>C	17.37:g.6908615A>C	ENSP00000251535:p.Thr401Pro	Somatic	637	WXS	Illumina GAIIx	Phase_IV	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.T401P	ENST00000251535.6	37	c.1201	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469022	0.43839	.	.	ENSG00000108839	ENST00000251535	T	0.78003	-1.14	4.95	4.95	0.65309	Lipoxygenase, C-terminal (3);	0.353948	0.29964	N	0.010755	T	0.79981	0.4540	M	0.85197	2.74	0.34363	D	0.691255	B	0.25105	0.118	B	0.26614	0.071	D	0.85085	0.0948	10	0.72032	D	0.01	-3.9832	12.6084	0.56538	1.0:0.0:0.0:0.0	.	401	P18054	LOX12_HUMAN	P	401	ENSP00000251535:T401P	ENSP00000251535:T401P	T	+	1	0	ALOX12	6849339	0.334000	0.24739	1.000000	0.80357	0.913000	0.54294	0.952000	0.29149	2.086000	0.62901	0.482000	0.46254	ACC	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000108839		0.562	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	457	0.86	4	A			6908615	6908615	+1	no_errors	ENST00000251535	ensembl	human	known	69_37n	missense	297	13.41	46	SNP	0.842	C
ALPK1	80216	genome.wustl.edu	37	4	113353097	113353097	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:113353097A>C	ENST00000458497.1	+	11	2673	c.2394A>C	c.(2392-2394)gcA>gcC	p.A798A	ALPK1_ENST00000177648.9_Silent_p.A798A|ALPK1_ENST00000504176.2_Silent_p.A720A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	798							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTGAAGATGCACCCTTAGACT	0.483																																						dbGAP											0													61.0	54.0	56.0					4																	113353097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2394A>C	4.37:g.113353097A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.A798	ENST00000458497.1	37	c.2394	CCDS3697.1	4																																																																																			ALPK1	-	NULL	ENSG00000073331		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	151	0.00	0	A	NM_025144		113353097	113353097	+1	no_errors	ENST00000177648	ensembl	human	known	69_37n	silent	104	17.32	22	SNP	0.000	C
ALPK3	57538	genome.wustl.edu	37	15	85384061	85384061	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:85384061A>C	ENST00000258888.5	+	5	2324	c.2157A>C	c.(2155-2157)ccA>ccC	p.P719P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	719					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAAAGGCCCCACCTCAGGCCT	0.647																																						dbGAP											0													36.0	39.0	38.0					15																	85384061		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2157A>C	15.37:g.85384061A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.P719	ENST00000258888.5	37	c.2157	CCDS10333.1	15																																																																																			ALPK3	-	NULL	ENSG00000136383		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	40	0.00	0	A	NM_020778		85384061	85384061	+1	no_errors	ENST00000258888	ensembl	human	known	69_37n	silent	31	13.89	5	SNP	0.000	C
ALS2CR12	130540	genome.wustl.edu	37	2	202208912	202208912	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:202208912T>G	ENST00000286190.5	-	5	489	c.443A>C	c.(442-444)cAc>cCc	p.H148P	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.H148P|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.H148P|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.H148P			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	148					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GGCAGACTGGTGGTCTCTGTT	0.373																																						dbGAP											0													274.0	256.0	262.0					2																	202208912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.443A>C	2.37:g.202208912T>G	ENSP00000286190:p.His148Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.H148P	ENST00000286190.5	37	c.443	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487802	0.64074	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.17	5.17	0.71159	.	0.118259	0.38164	N	0.001797	T	0.57504	0.2058	M	0.64997	1.995	0.27553	N	0.950439	D;D	0.69078	0.997;0.997	D;D	0.65010	0.931;0.931	T	0.54774	-0.8243	10	0.52906	T	0.07	-7.7287	11.7001	0.51567	0.0:0.0:0.0:1.0	.	148;148	Q96Q35;G5E9S3	AL2SB_HUMAN;.	P	148	ENSP00000286190:H148P;ENSP00000385098:H148P;ENSP00000376086:H148P;ENSP00000412073:H148P	ENSP00000286190:H148P	H	-	2	0	ALS2CR12	201917157	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	3.909000	0.56363	2.071000	0.62044	0.454000	0.30748	CAC	ALS2CR12	-	superfamily_t-SNARE	ENSG00000155749		0.373	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	231	0.43	1	T	NM_139163		202208912	202208912	-1	no_errors	ENST00000286190	ensembl	human	known	69_37n	missense	161	13.83	26	SNP	0.982	G
ALS2	57679	genome.wustl.edu	37	2	202611349	202611349	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:202611349A>C	ENST00000264276.6	-	9	2310	c.1938T>G	c.(1936-1938)ggT>ggG	p.G646G	ALS2_ENST00000457679.2_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	646					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAAGGTTGTCACCTTCTGTAG	0.473																																						dbGAP											0													181.0	173.0	176.0					2																	202611349		1861	4100	5961	-	-	-	SO:0001819	synonymous_variant	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1938T>G	2.37:g.202611349A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.G646	ENST00000264276.6	37	c.1938	CCDS42800.1	2																																																																																			ALS2	-	NULL	ENSG00000003393		0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	299	0.00	0	A	NM_020919		202611349	202611349	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	silent	234	11.32	30	SNP	0.994	C
CARF	79800	genome.wustl.edu	37	2	203817332	203817332	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:203817332A>C	ENST00000402905.3	+	5	678	c.357A>C	c.(355-357)ccA>ccC	p.P119P	WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_Silent_p.P119P|CARF_ENST00000444724.1_Silent_p.P119P|CARF_ENST00000545262.1_Silent_p.P43P|CARF_ENST00000414439.1_Silent_p.P17P|CARF_ENST00000456821.2_Silent_p.P107P|CARF_ENST00000428585.1_Silent_p.P43P|CARF_ENST00000434998.1_Silent_p.P17P|CARF_ENST00000438828.2_Silent_p.P119P|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Silent_p.P31P	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	119					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGTAATTCCACCTACCCAGA	0.428																																						dbGAP											0													135.0	123.0	127.0					2																	203817332		1864	4114	5978	-	-	-	SO:0001819	synonymous_variant	0			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.357A>C	2.37:g.203817332A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	NULL	p.P119	ENST00000402905.3	37	c.357	CCDS42801.1	2																																																																																			ALS2CR8	-	NULL	ENSG00000138380		0.428	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	248	0.00	0	A	NM_001104586		203817332	203817332	+1	no_errors	ENST00000320443	ensembl	human	known	69_37n	silent	212	16.54	42	SNP	0.999	C
AMACR	23600	genome.wustl.edu	37	5	33998840	33998840	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:33998840A>C	ENST00000335606.6	-	4	733	c.645T>G	c.(643-645)ggT>ggG	p.G215G	RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000426255.2_Silent_p.G215G|AMACR_ENST00000512079.1_Silent_p.G215G|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382068.3_Missense_Mutation_p.W162G|AMACR_ENST00000382085.3_Silent_p.G215G|AMACR_ENST00000502637.1_Silent_p.G200G|AMACR_ENST00000382072.2_Missense_Mutation_p.W162G|AMACR_ENST00000441713.2_Missense_Mutation_p.W162G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	215					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AAGGTGCTCCACCATCCAACA	0.453																																						dbGAP											0													157.0	139.0	145.0					5																	33998840		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.645T>G	5.37:g.33998840A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.W162G	ENST00000335606.6	37	c.484	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923540	0.33908	.	.	ENSG00000242110	ENST00000382072;ENST00000441713	T;T	0.66460	-0.11;-0.21	5.5	-2.33	0.06724	.	.	.	.	.	T	0.45696	0.1355	.	.	.	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.005;0.009	T	0.12528	-1.0544	7	.	.	.	-18.9343	8.1296	0.31018	0.3108:0.23:0.4592:0.0	.	162;162	Q6VRU4;Q9UHK6-4	.;.	G	162	ENSP00000371504:W162G;ENSP00000403800:W162G	.	W	-	1	0	AMACR	34034597	0.143000	0.22626	0.911000	0.35937	0.766000	0.43426	-0.379000	0.07437	-0.409000	0.07553	0.460000	0.39030	TGG	AMACR	-	NULL	ENSG00000242110		0.453	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	116	0.00	0	A	NM_014324		33998840	33998840	-1	no_errors	ENST00000441713	ensembl	human	known	69_37n	missense	85	16.67	17	SNP	0.988	C
AMBN	258	genome.wustl.edu	37	4	71467240	71467240	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71467240A>C	ENST00000322937.6	+	6	503	c.400A>C	c.(400-402)Acc>Ccc	p.T134P	AMBN_ENST00000449493.2_Missense_Mutation_p.T119P	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	134					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGCTGCAACCACCAACCAGGC	0.542											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													146.0	139.0	141.0					4																	71467240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.400A>C	4.37:g.71467240A>C	ENSP00000313809:p.Thr134Pro	Somatic	1130	WXS	Illumina GAIIx	Phase_IV	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	pfam_Amelin,smart_Amelin	p.T134P	ENST00000322937.6	37	c.400	CCDS3543.1	4	.	.	.	.	.	.	.	.	.	.	A	8.615	0.890110	0.17613	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.32988	1.43;1.43	5.62	1.7	0.24286	.	0.870147	0.09913	N	0.739594	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.26693	0.072	T	0.24512	-1.0158	10	0.45353	T	0.12	-0.0126	3.1119	0.06361	0.0871:0.1457:0.4363:0.331	.	134	Q9NP70	AMBN_HUMAN	P	134;134;119	ENSP00000313809:T134P;ENSP00000391234:T119P	ENSP00000313809:T134P	T	+	1	0	AMBN	71501829	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.120000	0.15647	0.825000	0.34637	-0.230000	0.12252	ACC	AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.542	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	315	0.63	2	A	NM_016519		71467240	71467240	+1	no_errors	ENST00000322937	ensembl	human	known	69_37n	missense	257	13.76	41	SNP	0.000	C
AMBN	258	genome.wustl.edu	37	4	71467286	71467286	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71467286A>C	ENST00000322937.6	+	6	549	c.446A>C	c.(445-447)cAc>cCc	p.H149P	AMBN_ENST00000449493.2_Missense_Mutation_p.H134P	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	149					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CCTCCAATTCACCTGGGACAT	0.532											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													126.0	120.0	122.0					4																	71467286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.446A>C	4.37:g.71467286A>C	ENSP00000313809:p.His149Pro	Somatic	1130	WXS	Illumina GAIIx	Phase_IV	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	pfam_Amelin,smart_Amelin	p.H149P	ENST00000322937.6	37	c.446	CCDS3543.1	4	.	.	.	.	.	.	.	.	.	.	A	10.59	1.394017	0.25205	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.34859	1.34;1.34	5.95	1.98	0.26296	.	0.540849	0.18772	N	0.131565	T	0.29458	0.0734	N	0.25647	0.755	0.09310	N	1	D	0.61080	0.989	P	0.55055	0.767	T	0.10941	-1.0608	10	0.15066	T	0.55	-2.4713	4.1811	0.10376	0.6004:0.0:0.084:0.3155	.	149	Q9NP70	AMBN_HUMAN	P	149;149;134	ENSP00000313809:H149P;ENSP00000391234:H134P	ENSP00000313809:H149P	H	+	2	0	AMBN	71501875	0.087000	0.21565	0.570000	0.28473	0.112000	0.19704	2.085000	0.41634	0.498000	0.27948	-0.490000	0.04691	CAC	AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.532	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	225	0.44	1	A	NM_016519		71467286	71467286	+1	no_errors	ENST00000322937	ensembl	human	known	69_37n	missense	183	19.65	45	SNP	0.062	C
AMHR2	269	genome.wustl.edu	37	12	53825113	53825113	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53825113A>C	ENST00000257863.4	+	11	1658	c.1578A>C	c.(1576-1578)ccA>ccC	p.P526P	AMHR2_ENST00000379791.3_Silent_p.P431P|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	526					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GTGGCTGCCCACCTCTCTGCC	0.607																																						dbGAP											0													113.0	95.0	101.0					12																	53825113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1578A>C	12.37:g.53825113A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.P526	ENST00000257863.4	37	c.1578	CCDS8858.1	12																																																																																			AMHR2	-	pirsf_Anti-muellerian_hrmn_rcpt_II	ENSG00000135409		0.607	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	65	0.00	0	A	NM_020547		53825113	53825113	+1	no_errors	ENST00000257863	ensembl	human	known	69_37n	silent	95	19.49	23	SNP	0.000	C
AMICA1	120425	genome.wustl.edu	37	11	118074218	118074218	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118074218T>G	ENST00000356289.5	-	6	870	c.697A>C	c.(697-699)Acc>Ccc	p.T233P	AMICA1_ENST00000292067.7_Missense_Mutation_p.T223P|AMICA1_ENST00000526620.1_Missense_Mutation_p.T194P|AMICA1_ENST00000533261.1_Missense_Mutation_p.T222P	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	233	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATACTGCAGGTGTAGTTTCCT	0.522																																						dbGAP											0													225.0	214.0	218.0					11																	118074218		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.697A>C	11.37:g.118074218T>G	ENSP00000348635:p.Thr233Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.T233P	ENST00000356289.5	37	c.697	CCDS41723.1	11	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278834	0.40294	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.8	3.66	0.41972	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.154996	0.30455	N	0.009591	T	0.79753	0.4500	M	0.85630	2.765	0.33280	D	0.562143	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.997;0.996	D;D;D;D;D	0.68943	0.961;0.961;0.961;0.961;0.935	D	0.83633	0.0146	10	0.59425	D	0.04	-10.4278	7.6452	0.28316	0.0:0.0999:0.0:0.9001	.	233;194;233;222;223	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	P	233;223;222;194;194	ENSP00000348635:T233P;ENSP00000292067:T223P;ENSP00000436117:T222P;ENSP00000431218:T194P	ENSP00000292067:T223P	T	-	1	0	AMICA1	117579428	1.000000	0.71417	0.997000	0.53966	0.223000	0.24884	2.209000	0.42806	0.756000	0.33013	0.402000	0.26972	ACC	AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000160593		0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	583	0.00	0	T	NM_153206		118074218	118074218	-1	no_errors	ENST00000356289	ensembl	human	known	69_37n	missense	463	10.79	56	SNP	1.000	G
AMOT	154796	genome.wustl.edu	37	X	112033896	112033896	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:112033896A>C	ENST00000524145.1	-	8	2115	c.2041T>G	c.(2041-2043)Tgg>Ggg	p.W681G	AMOT_ENST00000371958.1_Missense_Mutation_p.W449G|AMOT_ENST00000371959.3_Missense_Mutation_p.W681G|AMOT_ENST00000304758.1_Missense_Mutation_p.W272G|AMOT_ENST00000371962.1_Missense_Mutation_p.W449G			Q4VCS5	AMOT_HUMAN	angiomotin	681					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTGCTCCCACTTTGTCATA	0.493																																						dbGAP											0													218.0	197.0	204.0					X																	112033896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2041T>G	X.37:g.112033896A>C	ENSP00000429013:p.Trp681Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.W681G	ENST00000524145.1	37	c.2041	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258715	0.80246	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.37411	1.2;1.61;1.89;1.61;1.38	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61964	-0.6954	10	0.54805	T	0.06	-6.7991	14.5875	0.68339	1.0:0.0:0.0:0.0	.	681	Q4VCS5	AMOT_HUMAN	G	272;681;449;681;449	ENSP00000305557:W272G;ENSP00000361027:W681G;ENSP00000361030:W449G;ENSP00000429013:W681G;ENSP00000361026:W449G	ENSP00000305557:W272G	W	-	1	0	AMOT	111920552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.044000	0.60594	0.486000	0.48141	TGG	AMOT	-	pfam_Angiomotin_C,prints_Angiomotin	ENSG00000126016		0.493	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	718	0.00	0	A	NM_133265		112033896	112033896	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	640	10.32	74	SNP	1.000	C
AMOT	154796	genome.wustl.edu	37	X	112035178	112035178	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:112035178A>C	ENST00000524145.1	-	7	1882	c.1808T>G	c.(1807-1809)gTg>gGg	p.V603G	AMOT_ENST00000371958.1_Missense_Mutation_p.V371G|AMOT_ENST00000371959.3_Missense_Mutation_p.V603G|AMOT_ENST00000304758.1_Missense_Mutation_p.V194G|AMOT_ENST00000371962.1_Missense_Mutation_p.V371G			Q4VCS5	AMOT_HUMAN	angiomotin	603					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCTTCTCCACCTTGTCAAC	0.483																																						dbGAP											0													167.0	129.0	142.0					X																	112035178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1808T>G	X.37:g.112035178A>C	ENSP00000429013:p.Val603Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.V603G	ENST00000524145.1	37	c.1808	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619765	0.87460	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.32272	2.05;2.02;2.0;2.02;1.46	5.83	5.83	0.93111	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59354	-0.7470	10	0.40728	T	0.16	-14.5983	14.2322	0.65901	1.0:0.0:0.0:0.0	.	603	Q4VCS5	AMOT_HUMAN	G	194;603;371;603;371	ENSP00000305557:V194G;ENSP00000361027:V603G;ENSP00000361030:V371G;ENSP00000429013:V603G;ENSP00000361026:V371G	ENSP00000305557:V194G	V	-	2	0	AMOT	111921834	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.339000	0.96797	1.959000	0.56917	0.486000	0.48141	GTG	AMOT	-	pfam_Angiomotin_C,prints_Angiomotin	ENSG00000126016		0.483	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	265	0.00	0	A	NM_133265		112035178	112035178	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	269	14.60	46	SNP	1.000	C
AMOT	154796	genome.wustl.edu	37	X	112058602	112058602	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:112058602A>C	ENST00000524145.1	-	3	1450	c.1376T>G	c.(1375-1377)gTg>gGg	p.V459G	AMOT_ENST00000371958.1_Missense_Mutation_p.V227G|AMOT_ENST00000371959.3_Missense_Mutation_p.V459G|AMOT_ENST00000304758.1_Missense_Mutation_p.V50G|AMOT_ENST00000371962.1_Missense_Mutation_p.V227G			Q4VCS5	AMOT_HUMAN	angiomotin	459					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CAGTCTTGCCACCTTCTCATA	0.458																																						dbGAP											0													260.0	238.0	245.0					X																	112058602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1376T>G	X.37:g.112058602A>C	ENSP00000429013:p.Val459Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.V459G	ENST00000524145.1	37	c.1376	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721458	0.48728	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.45	5.45	0.79879	.	0.123071	0.53938	D	0.000045	T	0.25754	0.0627	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.01105	-1.1450	10	0.87932	D	0	-14.233	13.6459	0.62281	1.0:0.0:0.0:0.0	.	459	Q4VCS5	AMOT_HUMAN	G	50;459;227;459;227	ENSP00000305557:V50G;ENSP00000361027:V459G;ENSP00000361030:V227G;ENSP00000429013:V459G;ENSP00000361026:V227G	ENSP00000305557:V50G	V	-	2	0	AMOT	111945258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.539000	0.53604	2.018000	0.59344	0.486000	0.48141	GTG	AMOT	-	superfamily_Prefoldin	ENSG00000126016		0.458	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	415	0.48	2	A	NM_133265		112058602	112058602	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	329	14.55	56	SNP	1.000	C
AMOTL1	154810	genome.wustl.edu	37	11	94533454	94533454	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:94533454A>C	ENST00000433060.2	+	3	1239	c.1098A>C	c.(1096-1098)ccA>ccC	p.P366P	AMOTL1_ENST00000317837.9_Silent_p.P366P|AMOTL1_ENST00000317829.8_Silent_p.P316P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	366					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGTACCAGCCACCCCCTGAGT	0.498																																						dbGAP											0													85.0	85.0	85.0					11																	94533454		1957	4140	6097	-	-	-	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1098A>C	11.37:g.94533454A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.P366	ENST00000433060.2	37	c.1098	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.498	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	347	0.85	3	A	NM_130847		94533454	94533454	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	silent	240	14.74	42	SNP	0.848	C
AMPH	273	genome.wustl.edu	37	7	38429447	38429447	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:38429447A>C	ENST00000356264.2	-	20	2153	c.1938T>G	c.(1936-1938)ggT>ggG	p.G646G	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.G604G|AMPH_ENST00000428293.2_Silent_p.G604G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	646	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCACCACATCACCCCTTTGTA	0.418																																						dbGAP											0													194.0	186.0	189.0					7																	38429447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1938T>G	7.37:g.38429447A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonstop_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain	p.*529G	ENST00000356264.2	37	c.1585	CCDS5456.1	7	.	.	.	.	.	.	.	.	.	.	A	9.654	1.142452	0.21205	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.04	-0.893	0.10567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.678	0.4994	0.00577	0.2241:0.2022:0.1591:0.4147	.	.	.	.	G	529	.	.	X	-	1	0	AMPH	38395972	0.988000	0.35896	0.996000	0.52242	0.908000	0.53690	0.180000	0.16860	0.050000	0.15949	0.383000	0.25322	TGA	AMPH	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain	ENSG00000078053		0.418	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	386	0.00	0	A	NM_001635		38429447	38429447	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441628	ensembl	human	novel	69_37n	nonstop	315	11.02	39	SNP	0.966	C
AMY2B	280	genome.wustl.edu	37	1	104116940	104116940	+	Missense_Mutation	SNP	T	T	G	rs193276867		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:104116940T>G	ENST00000361355.4	+	7	1419	c.803T>G	c.(802-804)gTg>gGg	p.V268G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	268					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AATGGCCGGGTGACAGAATTC	0.388																																						dbGAP											0													164.0	168.0	166.0					1																	104116940		2203	4297	6500	-	-	-	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.803T>G	1.37:g.104116940T>G	ENSP00000354610:p.Val268Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.V268G	ENST00000361355.4	37	c.803	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773175	0.69992	.	.	ENSG00000240038	ENST00000361355	D	0.98400	-4.91	4.83	3.68	0.42216	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98735	1.0714	10	0.87932	D	0	.	11.6023	0.51010	0.0:0.0:0.1496:0.8504	.	268	P19961	AMY2B_HUMAN	G	268	ENSP00000354610:V268G	ENSP00000354610:V268G	V	+	2	0	AMY2B	103918463	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.882000	0.87258	0.683000	0.31428	0.529000	0.55759	GTG	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.388	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	315	0.32	1	T	NM_020978		104116940	104116940	+1	no_errors	ENST00000361355	ensembl	human	known	69_37n	missense	138	24.18	44	SNP	1.000	G
AMY2B	280	genome.wustl.edu	37	1	104120067	104120067	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:104120067T>G	ENST00000361355.4	+	10	1717				AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)						carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAGGAAGAGGTAAATATATGT	0.333																																						dbGAP											0													106.0	111.0	109.0					1																	104120067		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1102-45T>G	1.37:g.104120067T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTI1|B3KXB7|D3DT76|Q9UBH3	RNA	SNP	-	NULL	ENST00000361355.4	37	NULL	CCDS782.1	1																																																																																			AMY2B	-	-	ENSG00000240038		0.333	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	557	0.88	5	T	NM_020978		104120067	104120067	+1	no_errors	ENST00000481821	ensembl	human	known	69_37n	rna	325	13.30	50	SNP	0.000	G
ANAPC5	51433	genome.wustl.edu	37	12	121746192	121746192	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:121746192T>G	ENST00000261819.3	-	0	2480				ANAPC5_ENST00000535482.1_3'UTR|ANAPC5_ENST00000441917.2_3'UTR|ANAPC5_ENST00000541887.1_3'UTR|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGATAGGGTGTCACAAATA	0.398																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.*91A>C	12.37:g.121746192T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFB2|Q8N4H7|Q9BQD4	RNA	SNP	-	NULL	ENST00000261819.3	37	NULL	CCDS9220.1	12																																																																																			ANAPC5	-	-	ENSG00000089053		0.398	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	25	0.00	0	T			121746192	121746192	-1	no_errors	ENST00000543649	ensembl	human	known	69_37n	rna	30	16.67	6	SNP	0.000	G
ANGPT4	51378	genome.wustl.edu	37	20	896598	896598	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:896598A>C	ENST00000381922.3	-	1	362	c.260T>G	c.(259-261)gTg>gGg	p.V87G	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V87G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	87					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTGTTTCACCTGCTGGGT	0.632																																					Pancreas(181;481 2077 3259 31286 49856)	dbGAP											0													121.0	100.0	107.0					20																	896598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.260T>G	20.37:g.896598A>C	ENSP00000371347:p.Val87Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V87G	ENST00000381922.3	37	c.260	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767718	0.31320	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.12879	2.64;2.64	4.52	4.52	0.55395	.	1.085110	0.07150	N	0.848931	T	0.24275	0.0588	L	0.51422	1.61	0.27128	N	0.961952	D;D	0.60575	0.988;0.966	P;P	0.51657	0.676;0.543	T	0.13899	-1.0492	10	0.87932	D	0	.	10.1652	0.42875	1.0:0.0:0.0:0.0	.	87;87	B4E3J9;Q9Y264	.;ANGP4_HUMAN	G	87	ENSP00000371347:V87G;ENSP00000439605:V87G	ENSP00000371347:V87G	V	-	2	0	ANGPT4	844598	0.590000	0.26815	0.003000	0.11579	0.003000	0.03518	5.375000	0.66173	1.905000	0.55150	0.397000	0.26171	GTG	ANGPT4	-	NULL	ENSG00000101280		0.632	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	213	0.46	1	A	NM_015985		896598	896598	-1	no_errors	ENST00000381922	ensembl	human	known	69_37n	missense	284	17.05	59	SNP	0.146	C
ANGPTL5	253935	genome.wustl.edu	37	11	101762073	101762073	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:101762073T>G	ENST00000334289.3	-	9	1699	c.1104A>C	c.(1102-1104)tcA>tcC	p.S368S		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCTTGACAGGTGAGTTGTTTT	0.333																																						dbGAP											0													100.0	104.0	103.0					11																	101762073		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1104A>C	11.37:g.101762073T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K658|Q86VR9	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.S368	ENST00000334289.3	37	c.1104	CCDS8312.1	11																																																																																			ANGPTL5	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000187151		0.333	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	346	0.00	0	T	NM_178127		101762073	101762073	-1	no_errors	ENST00000334289	ensembl	human	known	69_37n	silent	239	11.76	32	SNP	0.003	G
ANK2	287	genome.wustl.edu	37	4	114275420	114275420	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:114275420A>C	ENST00000357077.4	+	38	5699	c.5646A>C	c.(5644-5646)tcA>tcC	p.S1882S	ANK2_ENST00000264366.6_Silent_p.S1849S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1882	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACCTGTATCACCCTCGACAA	0.458																																						dbGAP											0													190.0	172.0	178.0					4																	114275420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5646A>C	4.37:g.114275420A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S1882	ENST00000357077.4	37	c.5646	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	390	0.76	3	A	NM_001148		114275420	114275420	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	392	16.14	76	SNP	0.981	C
ANK3	288	genome.wustl.edu	37	10	61847992	61847992	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:61847992A>C	ENST00000280772.2	-	29	3644	c.3453T>G	c.(3451-3453)ggT>ggG	p.G1151G	ANK3_ENST00000373827.2_Silent_p.G1145G|ANK3_ENST00000355288.2_Silent_p.G285G|ANK3_ENST00000503366.1_Silent_p.G1152G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1151	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGAATTCCACCTTCAGGAC	0.478																																						dbGAP											0													133.0	134.0	134.0					10																	61847992		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3453T>G	10.37:g.61847992A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1151	ENST00000280772.2	37	c.3453	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	131	0.00	0	A	NM_020987		61847992	61847992	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	silent	135	10.46	16	SNP	0.837	C
ANKDD1A	348094	genome.wustl.edu	37	15	65235699	65235699	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:65235699A>C	ENST00000380230.3	+	11	1015	c.986A>C	c.(985-987)cAc>cCc	p.H329P	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.H329P|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.H238P|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.H329P	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	329					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACGCCCCTTCACCTGGCTGCA	0.542																																						dbGAP											0													218.0	224.0	222.0					15																	65235699		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.986A>C	15.37:g.65235699A>C	ENSP00000369579:p.His329Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,prints_Ankyrin_rpt	p.H329P	ENST00000380230.3	37	c.986	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029469	0.75504	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.71698	-0.59;-0.58;-0.59;-0.58	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000005	D	0.89047	0.6604	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92320	0.5865	10	0.72032	D	0.01	-21.47	14.0721	0.64865	1.0:0.0:0.0:0.0	.	329	Q495B1	AKD1A_HUMAN	P	329;329;329;238	ENSP00000369579:H329P;ENSP00000350329:H329P;ENSP00000379070:H329P;ENSP00000379073:H238P	ENSP00000350329:H329P	H	+	2	0	ANKDD1A	63022752	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	8.227000	0.89787	2.197000	0.70478	0.533000	0.62120	CAC	ANKDD1A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000166839		0.542	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2	236	0.83	2	A	NM_182703		65235699	65235699	+1	no_errors	ENST00000380230	ensembl	human	known	69_37n	missense	189	12.44	27	SNP	1.000	C
ANKHD1	54882	genome.wustl.edu	37	5	139885379	139885379	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:139885379T>G	ENST00000360839.2	+	18	3487	c.3333T>G	c.(3331-3333)ggT>ggG	p.G1111G	ANKHD1_ENST00000297183.6_Silent_p.G1111G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1111G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1111						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATAAAGGTGGAGATATAG	0.393																																						dbGAP											0													213.0	197.0	202.0					5																	139885379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3333T>G	5.37:g.139885379T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V337G	ENST00000360839.2	37	c.1010	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258280	0.23051	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.39	4.24	0.50183	.	.	.	.	.	T	0.48466	0.1501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46665	-0.9175	4	.	.	.	.	4.3591	0.11194	0.1518:0.1463:0.0:0.7019	.	.	.	.	G	337	.	.	V	+	2	0	ANKHD1	139865563	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.203000	0.17315	2.043000	0.60533	0.459000	0.35465	GTG	ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	206	0.00	0	T	NM_017747		139885379	139885379	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000246149	ensembl	human	novel	69_37n	missense	190	15.42	35	SNP	0.999	G
ANKK1	255239	genome.wustl.edu	37	11	113264355	113264355	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:113264355A>C	ENST00000303941.3	+	2	432	c.338A>C	c.(337-339)cAc>cCc	p.H113P		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGTCCACCCACAGCCTCTGC	0.567																																						dbGAP											0													54.0	58.0	57.0					11																	113264355		2103	4254	6357	-	-	-	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.338A>C	11.37:g.113264355A>C	ENSP00000306678:p.His113Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H113P	ENST00000303941.3	37	c.338	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	A	10.76	1.440603	0.25900	.	.	ENSG00000170209	ENST00000303941	D	0.82893	-1.66	4.84	3.69	0.42338	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	D	0.85177	0.5637	L	0.34521	1.04	0.25588	N	0.98672	D	0.89917	1.0	D	0.97110	1.0	T	0.77294	-0.2641	10	0.72032	D	0.01	-17.3322	11.1521	0.48464	0.8458:0.1542:0.0:0.0	.	113	Q8NFD2	ANKK1_HUMAN	P	113	ENSP00000306678:H113P	ENSP00000306678:H113P	H	+	2	0	ANKK1	112769565	0.097000	0.21791	0.765000	0.31456	0.012000	0.07955	3.171000	0.50824	0.825000	0.34637	0.379000	0.24179	CAC	ANKK1	-	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	ENSG00000170209		0.567	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	57	0.00	0	A	NM_178510		113264355	113264355	+1	no_errors	ENST00000303941	ensembl	human	known	69_37n	missense	48	10.91	6	SNP	0.289	C
ANKRD11	29123	genome.wustl.edu	37	16	89347944	89347944	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:89347944T>G	ENST00000301030.4	-	9	5466	c.5006A>C	c.(5005-5007)cAc>cCc	p.H1669P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1669P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1669					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGATGCTGGGTGTAGCTTATT	0.577																																						dbGAP											0													124.0	135.0	131.0					16																	89347944		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5006A>C	16.37:g.89347944T>G	ENSP00000301030:p.His1669Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H1669P	ENST00000301030.4	37	c.5006	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	T	8.446	0.851857	0.17034	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	4.7	0.136	0.14780	.	0.451827	0.21591	N	0.072085	T	0.22975	0.0555	L	0.29908	0.895	0.34357	D	0.690526	B	0.02656	0.0	B	0.01281	0.0	T	0.09037	-1.0693	10	0.62326	D	0.03	.	7.4896	0.27454	0.129:0.0:0.3703:0.5007	.	1669	Q6UB99	ANR11_HUMAN	P	1669	ENSP00000301030:H1669P;ENSP00000367581:H1669P	ENSP00000301030:H1669P	H	-	2	0	ANKRD11	87875445	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	2.763000	0.47605	-0.193000	0.10415	0.379000	0.24179	CAC	ANKRD11	-	NULL	ENSG00000167522		0.577	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	215	0.46	1	T	NM_013275		89347944	89347944	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	158	15.96	30	SNP	0.117	G
ANKRD17	26057	genome.wustl.edu	37	4	73984504	73984504	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:73984504A>C	ENST00000358602.4	-	22	4205	c.4089T>G	c.(4087-4089)ggT>ggG	p.G1363G	ANKRD17_ENST00000330838.6_Silent_p.G1112G|ANKRD17_ENST00000509867.2_Silent_p.G1250G|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1363					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGAGGTGTCCACCATTTGCTG	0.448																																						dbGAP											0													191.0	170.0	177.0					4																	73984504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4089T>G	4.37:g.73984504A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.V1247G	ENST00000358602.4	37	c.3740	CCDS34004.1	4																																																																																			ANKRD17	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132466		0.448	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	344	0.29	1	A	NM_032217		73984504	73984504	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558247	ensembl	human	known	69_37n	missense	240	13.04	36	SNP	0.968	C
ANKRD35	148741	genome.wustl.edu	37	1	145555794	145555794	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:145555794A>C	ENST00000355594.4	+	2	229	c.142A>C	c.(142-144)Acc>Ccc	p.T48P	ANKRD35_ENST00000544626.1_Missense_Mutation_p.T48P	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	48										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCGACCCACCAAGCTTGA	0.587																																					Melanoma(9;127 754 22988 51047)	dbGAP											0													63.0	68.0	66.0					1																	145555794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.142A>C	1.37:g.145555794A>C	ENSP00000347802:p.Thr48Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T48P	ENST00000355594.4	37	c.142	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048438	0.75846	.	.	ENSG00000198483	ENST00000355594;ENST00000544626	T;T	0.54866	0.55;1.37	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.000000	0.48286	D	0.000195	T	0.57373	0.2049	L	0.49640	1.575	0.34046	D	0.655525	D	0.89917	1.0	D	0.91635	0.999	T	0.66081	-0.6012	10	0.87932	D	0	-23.8481	12.2099	0.54373	1.0:0.0:0.0:0.0	.	48	Q8N283	ANR35_HUMAN	P	48	ENSP00000347802:T48P;ENSP00000442671:T48P	ENSP00000347802:T48P	T	+	1	0	ANKRD35	144267151	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.998000	0.57024	2.139000	0.66308	0.533000	0.62120	ACC	ANKRD35	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198483		0.587	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	54	0.00	0	A	NM_144698		145555794	145555794	+1	no_errors	ENST00000355594	ensembl	human	known	69_37n	missense	81	14.74	14	SNP	1.000	C
ANKRD40	91369	genome.wustl.edu	37	17	48774467	48774467	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:48774467A>C	ENST00000285243.6	-	4	1063	c.794T>G	c.(793-795)gTg>gGg	p.V265G	RP11-294J22.6_ENST00000574246.1_RNA|Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	265										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTGAATTCTCACCTTGAGTAC	0.408																																						dbGAP											0													77.0	72.0	73.0					17																	48774467		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.794T>G	17.37:g.48774467A>C	ENSP00000285243:p.Val265Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E32	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V265G	ENST00000285243.6	37	c.794	CCDS11572.1	17	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654858	0.88056	.	.	ENSG00000154945	ENST00000285243	T	0.39997	1.05	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.66999	-0.5781	10	0.87932	D	0	-16.9676	15.9416	0.79758	1.0:0.0:0.0:0.0	.	265	Q6AI12	ANR40_HUMAN	G	265	ENSP00000285243:V265G	ENSP00000285243:V265G	V	-	2	0	ANKRD40	46129466	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	8.905000	0.92613	2.225000	0.72522	0.533000	0.62120	GTG	ANKRD40	-	NULL	ENSG00000154945		0.408	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	HGNC	protein_coding	OTTHUMT00000368201.2	54	0.00	0	A	NM_052855		48774467	48774467	-1	no_errors	ENST00000285243	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	C
ANKRD42	338699	genome.wustl.edu	37	11	82938826	82938826	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:82938826T>G	ENST00000393392.2	+	7	903	c.741T>G	c.(739-741)ggT>ggG	p.G247G	ANKRD42_ENST00000260047.6_Silent_p.G274G|ANKRD42_ENST00000531895.1_Silent_p.G275G|ANKRD42_ENST00000533342.1_Silent_p.G275G	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	247					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTAAGGGTGATTTGGGGA	0.348																																						dbGAP											0													139.0	129.0	132.0					11																	82938826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.741T>G	11.37:g.82938826T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A49	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G247	ENST00000393392.2	37	c.741	CCDS8265.1	11																																																																																			ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.348	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	272	0.36	1	T	NM_182603		82938826	82938826	+1	no_errors	ENST00000393392	ensembl	human	known	69_37n	silent	187	21.99	53	SNP	1.000	G
ANKRD49	54851	genome.wustl.edu	37	11	94230119	94230119	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:94230119T>G	ENST00000544612.1	+	2	755		c.e2+2		ANKRD49_ENST00000540349.1_Missense_Mutation_p.V87G|ANKRD49_ENST00000544253.1_Missense_Mutation_p.V87G|ANKRD49_ENST00000302755.4_Splice_Site	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATCGGGTAAAAAAAAAA	0.398																																					Melanoma(113;823 1621 4352 9582 22033)	dbGAP											0													62.0	69.0	67.0					11																	94230119		2098	4256	6354	-	-	-	SO:0001630	splice_region_variant	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.258+2T>G	11.37:g.94230119T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF2|Q96JE5|Q9NXK7	Splice_Site	SNP	-	e1+2	ENST00000544612.1	37	c.258+2	CCDS8300.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.107795|4.107795	0.77096|0.77096	.|.	.|.	ENSG00000168876|ENSG00000168876	ENST00000544612;ENST00000302755|ENST00000540349;ENST00000545130;ENST00000544253;ENST00000541144	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80639	.|0.4661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.83332	.|-0.0012	.|7	.|0.87932	.|D	.|0	.|.	16.2813|16.2813	0.82687|0.82687	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|87	.|F6R851	.|.	.|G	-1|87	.|.	.|ENSP00000444030:V87G	.|V	+|+	.|2	.|0	ANKRD49|ANKRD49	93869767|93869767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.219000|7.219000	0.78000|0.78000	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	.|GTA	ANKRD49	-	-	ENSG00000168876		0.398	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2	264	0.00	0	T	NM_017704	Intron	94230119	94230119	+1	no_errors	ENST00000302755	ensembl	human	known	69_37n	splice_site	159	11.68	23	SNP	1.000	G
ANKEF1	63926	genome.wustl.edu	37	20	10030564	10030564	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:10030564T>G	ENST00000378380.3	+	6	1676	c.1347T>G	c.(1345-1347)ggT>ggG	p.G449G	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.G449G|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	449							calcium ion binding (GO:0005509)										GGCAGGATGGTGGGCCACCGT	0.473																																						dbGAP											0													99.0	90.0	93.0					20																	10030564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1347T>G	20.37:g.10030564T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUQ0|Q9H6Y9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt	p.G449	ENST00000378380.3	37	c.1347	CCDS13108.1	20																																																																																			ANKRD5	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000132623		0.473	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD5	HGNC	protein_coding	OTTHUMT00000077968.2	117	0.85	1	T	NM_022096		10030564	10030564	+1	no_errors	ENST00000378380	ensembl	human	known	69_37n	silent	97	15.65	18	SNP	0.333	G
ANKRD50	57182	genome.wustl.edu	37	4	125599895	125599895	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:125599895T>G	ENST00000504087.1	-	3	1715	c.678A>C	c.(676-678)ccA>ccC	p.P226P	ANKRD50_ENST00000515641.1_Silent_p.P47P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	226										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATAGCCATGGTGGAAAGAACT	0.423																																						dbGAP											0													179.0	174.0	176.0					4																	125599895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.678A>C	4.37:g.125599895T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P226	ENST00000504087.1	37	c.678	CCDS34060.1	4																																																																																			ANKRD50	-	NULL	ENSG00000151458		0.423	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	298	0.00	0	T	NM_020337		125599895	125599895	-1	no_errors	ENST00000504087	ensembl	human	known	69_37n	silent	276	13.17	42	SNP	0.613	G
ANKRD50	57182	genome.wustl.edu	37	4	125599964	125599964	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:125599964A>C	ENST00000504087.1	-	3	1646	c.609T>G	c.(607-609)ggT>ggG	p.G203G	ANKRD50_ENST00000515641.1_Silent_p.G24G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	203										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACGTTTGTTCACCTTCAGTAA	0.473																																						dbGAP											0													201.0	196.0	197.0					4																	125599964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.609T>G	4.37:g.125599964A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G203	ENST00000504087.1	37	c.609	CCDS34060.1	4																																																																																			ANKRD50	-	NULL	ENSG00000151458		0.473	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	288	0.00	0	A	NM_020337		125599964	125599964	-1	no_errors	ENST00000504087	ensembl	human	known	69_37n	silent	276	11.46	36	SNP	0.019	C
ANKS1A	23294	genome.wustl.edu	37	6	34985809	34985809	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:34985809A>C	ENST00000360359.3	+	11	2121	c.1983A>C	c.(1981-1983)tcA>tcC	p.S661S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	661					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGAGAAGTCACCCTCCTTCG	0.607																																						dbGAP											0													100.0	104.0	102.0					6																	34985809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1983A>C	6.37:g.34985809A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S661	ENST00000360359.3	37	c.1983	CCDS4798.1	6																																																																																			ANKS1A	-	NULL	ENSG00000064999		0.607	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	103	0.95	1	A	XM_166478		34985809	34985809	+1	no_errors	ENST00000360359	ensembl	human	known	69_37n	silent	78	24.27	25	SNP	0.010	C
ANKS1B	56899	genome.wustl.edu	37	12	99548104	99548104	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:99548104T>G	ENST00000547776.2	-	15	2488	c.2489A>C	c.(2488-2490)cAc>cCc	p.H830P	ANKS1B_ENST00000332712.7_Missense_Mutation_p.H56P|ANKS1B_ENST00000547010.1_Missense_Mutation_p.H406P|ANKS1B_ENST00000549558.2_Missense_Mutation_p.H56P|ANKS1B_ENST00000329257.7_Missense_Mutation_p.H830P|ANKS1B_ENST00000550693.2_Missense_Mutation_p.H56P|ANKS1B_ENST00000549493.2_Missense_Mutation_p.H56P|ANKS1B_ENST00000547446.1_Missense_Mutation_p.H25P|ANKS1B_ENST00000546568.1_Missense_Mutation_p.H56P|ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000546960.1_Missense_Mutation_p.H56P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	830	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGCCATCAGGTGGTTCTCGTA	0.473																																						dbGAP											0													97.0	100.0	99.0					12																	99548104		1997	4163	6160	-	-	-	SO:0001583	missense	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2489A>C	12.37:g.99548104T>G	ENSP00000449629:p.His830Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.H830P	ENST00000547776.2	37	c.2489	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.63|13.63	2.294155|2.294155	0.40594|0.40594	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245|ENST00000550778	T;T;T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57021|0.57021	0.2025|0.2025	L|L	0.35542|0.35542	1.07|1.07	0.48395|0.48395	D|D	0.999645|0.999645	B;B;P;P;B;B;P;P;D;B|.	0.54397|.	0.333;0.224;0.863;0.795;0.092;0.224;0.823;0.904;0.966;0.227|.	B;P;P;P;B;P;P;P;P;P|.	0.61132|.	0.383;0.468;0.538;0.708;0.334;0.468;0.71;0.708;0.884;0.468|.	T|T	0.53514|0.53514	-0.8428|-0.8428	9|5	.|.	.|.	.|.	-10.6657|-10.6657	15.0195|15.0195	0.71617|0.71617	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	25;56;56;56;44;56;56;406;830;56|.	F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	P|P	56;830;406;830;405;56;56;25;56;56;56;56|102	ENSP00000448993:H56P;ENSP00000449629:H830P;ENSP00000448512:H406P;ENSP00000331381:H830P;ENSP00000447999:H56P;ENSP00000448203:H56P;ENSP00000450015:H25P;ENSP00000448205:H56P;ENSP00000332683:H56P;ENSP00000447839:H56P|.	.|.	H|T	-|-	2|1	0|0	ANKS1B|ANKS1B	98072235|98072235	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.375000|7.375000	0.79646|0.79646	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	CAC|ACC	ANKS1B	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000185046		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	159	0.00	0	T	NM_020140		99548104	99548104	-1	no_errors	ENST00000329257	ensembl	human	known	69_37n	missense	150	15.25	27	SNP	1.000	G
ANKS4B	257629	genome.wustl.edu	37	16	21261543	21261543	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:21261543T>G	ENST00000311620.5	+	2	729	c.656T>G	c.(655-657)gTg>gGg	p.V219G		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	219					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GCAGAACAGGTGGGGAAGGAA	0.473																																						dbGAP											0													97.0	108.0	104.0					16																	21261543		2023	4182	6205	-	-	-	SO:0001583	missense	0			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.656T>G	16.37:g.21261543T>G	ENSP00000308772:p.Val219Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V219G	ENST00000311620.5	37	c.656	CCDS42130.1	16	.	.	.	.	.	.	.	.	.	.	T	1.684	-0.505674	0.04261	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.77	2.1	0.27182	.	1.969230	0.01946	N	0.042296	T	0.34571	0.0902	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09885	-1.0654	10	0.22706	T	0.39	0.1922	0.4546	0.00507	0.2314:0.1532:0.2645:0.351	.	219	Q8N8V4	ANS4B_HUMAN	G	219	ENSP00000308772:V219G	ENSP00000308772:V219G	V	+	2	0	ANKS4B	21169044	0.003000	0.15002	0.000000	0.03702	0.017000	0.09413	1.049000	0.30392	0.448000	0.26722	0.482000	0.46254	GTG	ANKS4B	-	NULL	ENSG00000175311		0.473	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS4B	HGNC	protein_coding	OTTHUMT00000436535.1	153	0.00	0	T	NM_145865		21261543	21261543	+1	no_errors	ENST00000311620	ensembl	human	known	69_37n	missense	117	15.83	22	SNP	0.000	G
ANO6	196527	genome.wustl.edu	37	12	45742084	45742084	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:45742084A>C	ENST00000320560.8	+	5	821	c.619A>C	c.(619-621)Acc>Ccc	p.T207P	ANO6_ENST00000441606.2_Missense_Mutation_p.T189P|ANO6_ENST00000425752.2_Missense_Mutation_p.T207P|ANO6_ENST00000423947.3_Missense_Mutation_p.T228P|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.T207P	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	207					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAATCCAGCCACCAGAAGCCG	0.393																																						dbGAP											0													96.0	98.0	97.0					12																	45742084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.619A>C	12.37:g.45742084A>C	ENSP00000320087:p.Thr207Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.T207P	ENST00000320560.8	37	c.619	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377555	0.82682	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.3	5.3	0.74995	.	0.094144	0.64402	D	0.000001	D	0.85392	0.5686	M	0.89414	3.03	0.53688	D	0.999974	D;D;D;P	0.71674	0.997;0.975;0.998;0.921	D;P;D;P	0.64776	0.929;0.629;0.924;0.558	D	0.87679	0.2546	10	0.54805	T	0.06	.	15.9619	0.79936	1.0:0.0:0.0:0.0	.	189;228;207;207	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	P	207;228;207;207;189	ENSP00000391417:T207P;ENSP00000409126:T228P;ENSP00000413840:T207P;ENSP00000320087:T207P;ENSP00000413137:T189P	ENSP00000320087:T207P	T	+	1	0	ANO6	44028351	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.187000	0.72039	2.308000	0.77769	0.533000	0.62120	ACC	ANO6	-	NULL	ENSG00000177119		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	226	0.00	0	A	XM_113743		45742084	45742084	+1	no_errors	ENST00000425752	ensembl	human	known	69_37n	missense	176	14.08	29	SNP	1.000	C
ANXA1	301	genome.wustl.edu	37	9	75783706	75783706	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:75783706T>G	ENST00000376911.1	+	11	1743				ANXA1_ENST00000257497.6_Intron|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1						alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	GACCGGATGGTGAGAGATGAG	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.862-242T>G	9.37:g.75783706T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376911.1	37	NULL	CCDS6645.1	9																																																																																			ANXA1	-	-	ENSG00000135046		0.358	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	HGNC	protein_coding	OTTHUMT00000052665.1	23	0.00	0	T	NM_000700		75783706	75783706	+1	no_errors	ENST00000491192	ensembl	human	known	69_37n	rna	5	68.75	11	SNP	0.000	G
AOAH	313	genome.wustl.edu	37	7	36634232	36634232	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:36634232A>C	ENST00000258749.5	-	12	1246				AOAH_ENST00000538464.1_5'UTR|AOAH_ENST00000431169.1_Intron|AOAH_ENST00000535891.1_Intron	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GATCAGCACCACCCTTGACCT	0.468																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.847-196T>G	7.37:g.36634232A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Y5|B7Z490|Q53F13	RNA	SNP	-	NULL	ENST00000258749.5	37	NULL	CCDS5448.1	7																																																																																			AOAH	-	-	ENSG00000136250		0.468	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	18	0.00	0	A	NM_001637		36634232	36634232	-1	no_errors	ENST00000487014	ensembl	human	known	69_37n	rna	7	50.00	7	SNP	0.002	C
AOC2	314	genome.wustl.edu	37	17	41002313	41002313	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:41002313A>C	ENST00000253799.3	+	4	2246	c.2219A>C	c.(2218-2220)gAc>gCc	p.D740A	AOC2_ENST00000452774.2_Missense_Mutation_p.D713A|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	740					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGCCTCCCCGACCTGGCAGCC	0.592																																						dbGAP											0													153.0	163.0	160.0					17																	41002313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2219A>C	17.37:g.41002313A>C	ENSP00000253799:p.Asp740Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.D740A	ENST00000253799.3	37	c.2219	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983439	0.18889	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03717	3.83;3.83	5.19	5.19	0.71726	Copper amine oxidase, C-terminal (1);	0.532850	0.19227	N	0.119509	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.22386	0.012;0.039	T	0.44605	-0.9317	10	0.48119	T	0.1	-20.8681	15.0566	0.71917	1.0:0.0:0.0:0.0	.	740;713	O75106;O75106-2	AOC2_HUMAN;.	A	740;713	ENSP00000253799:D740A;ENSP00000406134:D713A	ENSP00000253799:D740A	D	+	2	0	AOC2	38255839	0.000000	0.05858	0.723000	0.30687	0.212000	0.24457	1.103000	0.31062	1.965000	0.57142	0.459000	0.35465	GAC	AOC2	-	superfamily_Cu_amine_oxidase_C	ENSG00000131480		0.592	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	238	0.00	0	A	NM_009590, NM_001158		41002313	41002313	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	missense	166	12.95	25	SNP	0.078	C
AOC3	8639	genome.wustl.edu	37	17	41004759	41004759	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:41004759A>C	ENST00000308423.2	+	1	1559	c.1399A>C	c.(1399-1401)Acc>Ccc	p.T467P	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	467					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATCTATGTCCACCTTGCTCAA	0.552																																					NSCLC(3;192 220 10664 11501 16477)	dbGAP											0													160.0	138.0	146.0					17																	41004759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1399A>C	17.37:g.41004759A>C	ENSP00000312326:p.Thr467Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.T467P	ENST00000308423.2	37	c.1399	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235368	0.58886	.	.	ENSG00000131471	ENST00000308423	T	0.11821	2.74	5.17	5.17	0.71159	Copper amine oxidase, C-terminal (3);	0.055778	0.64402	D	0.000001	T	0.46386	0.1390	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.58983	-0.7539	10	0.87932	D	0	.	15.3062	0.73992	1.0:0.0:0.0:0.0	.	467	Q16853	AOC3_HUMAN	P	467	ENSP00000312326:T467P	ENSP00000312326:T467P	T	+	1	0	AOC3	38258285	1.000000	0.71417	0.915000	0.36163	0.847000	0.48162	5.022000	0.64078	2.093000	0.63338	0.482000	0.46254	ACC	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.552	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	82	0.00	0	A	NM_003734		41004759	41004759	+1	no_errors	ENST00000308423	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	0.981	C
AP1B1	162	genome.wustl.edu	37	22	29755824	29755824	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:29755824T>G	ENST00000405198.1	-	3	299	c.268A>C	c.(268-270)Acc>Ccc	p.T90P	AP1B1_ENST00000317368.7_Missense_Mutation_p.T90P|AP1B1_ENST00000415447.1_Missense_Mutation_p.T90P|AP1B1_ENST00000356015.2_Missense_Mutation_p.T90P|AP1B1_ENST00000432560.2_Missense_Mutation_p.T90P|AP1B1_ENST00000402502.1_Missense_Mutation_p.T90P|AP1B1_ENST00000357586.2_Missense_Mutation_p.T90P			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	90					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCACAAAGGTGTTGACGGCC	0.557											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													121.0	103.0	109.0					22																	29755824		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.268A>C	22.37:g.29755824T>G	ENSP00000384194:p.Thr90Pro	Somatic	812	WXS	Illumina GAIIx	Phase_IV	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.T90P	ENST00000405198.1	37	c.268	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	T	32	5.139458	0.94560	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.26	5.26	0.73747	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042970	0.85682	D	0.000000	T	0.66528	0.2798	H	0.95539	3.685	0.80722	D	1	D;P;D;P	0.57899	0.975;0.913;0.981;0.914	D;P;D;P	0.68039	0.943;0.868;0.955;0.814	T	0.77978	-0.2384	10	0.87932	D	0	-43.538	15.1357	0.72562	0.0:0.0:0.0:1.0	.	90;90;90;90	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	P	90	ENSP00000350199:T90P;ENSP00000348297:T90P;ENSP00000400065:T90P;ENSP00000384194:T90P;ENSP00000319361:T90P;ENSP00000386071:T90P;ENSP00000387612:T90P;ENSP00000400022:T90P	ENSP00000319361:T90P	T	-	1	0	AP1B1	28085824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.989000	0.88205	2.116000	0.64780	0.459000	0.35465	ACC	AP1B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu	ENSG00000100280		0.557	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	70	0.00	0	T	NM_001127		29755824	29755824	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	G
AP1G2	8906	genome.wustl.edu	37	14	24035549	24035549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24035549G>A	ENST00000308724.5	-	3	1164	c.409C>T	c.(409-411)Cga>Tga	p.R137*	AP1G2_ENST00000397120.3_Nonsense_Mutation_p.R137*|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	137					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GCCAGGTCTCGGCACATCTCA	0.622																																						dbGAP											0													66.0	64.0	65.0					14																	24035549		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.409C>T	14.37:g.24035549G>A	ENSP00000312442:p.Arg137*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS51|O75504	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.R137*	ENST00000308724.5	37	c.409	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	G	42	9.228553	0.99106	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	.	.	.	5.01	4.11	0.48088	.	0.053832	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5458	12.484	0.55861	0.0:0.0:0.8316:0.1684	.	.	.	.	X	137	.	ENSP00000312442:R137X	R	-	1	2	AP1G2	23105389	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.437000	0.44828	1.307000	0.44944	0.561000	0.74099	CGA	AP1G2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000213983		0.622	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	156	0.64	1	G	NM_003917		24035549	24035549	-1	no_errors	ENST00000308724	ensembl	human	known	69_37n	nonsense	107	25.69	37	SNP	1.000	A
AP3B1	8546	genome.wustl.edu	37	5	77409707	77409707	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:77409707A>C	ENST00000255194.6	-	19	2293	c.2118T>G	c.(2116-2118)agT>agG	p.S706R	AP3B1_ENST00000519295.1_Missense_Mutation_p.S657R	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	706	Glu/Ser-rich.				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)		CTTCCTCCCCACTTTCGCCTT	0.468									Hermansky-Pudlak syndrome																													dbGAP											0													178.0	126.0	143.0					5																	77409707		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.2118T>G	5.37:g.77409707A>C	ENSP00000255194:p.Ser706Arg	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.S706R	ENST00000255194.6	37	c.2118	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	A	6.653	0.489085	0.12641	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.62941	-0.01;-0.01	0.95	0.95	0.19572	.	1.219260	0.06189	N	0.680922	T	0.50888	0.1642	L	0.40543	1.245	0.20975	N	0.999816	P	0.39520	0.676	B	0.39706	0.307	T	0.43540	-0.9385	10	0.33940	T	0.23	-7.0135	4.1328	0.10158	1.0:0.0:0.0:0.0	.	706	O00203	AP3B1_HUMAN	R	706;657;706	ENSP00000255194:S706R;ENSP00000430597:S657R	ENSP00000255194:S706R	S	-	3	2	AP3B1	77445463	0.156000	0.22821	0.613000	0.29037	0.973000	0.67179	0.000000	0.12993	0.685000	0.31468	0.459000	0.35465	AGT	AP3B1	-	pirsf_AP3_complex_bsu	ENSG00000132842		0.468	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	192	0.51	1	A			77409707	77409707	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	missense	187	15.70	35	SNP	0.485	C
PTPN22	26191	genome.wustl.edu	37	1	114399335	114399335	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:114399335A>C	ENST00000359785.5	-	6	544				PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Intron|PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000538253.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGTCCTTCACCTTAGGTTA	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.409-94T>G	1.37:g.114399335A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	RNA	SNP	-	NULL	ENST00000359785.5	37	NULL	CCDS863.1	1																																																																																			AP4B1-AS1	-	-	ENSG00000226167		0.383	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4B1-AS1	HGNC	protein_coding	OTTHUMT00000033015.1	59	0.00	0	A	NM_015967		114399335	114399335	+1	no_errors	ENST00000419536	ensembl	human	known	69_37n	rna	72	20.00	18	SNP	0.084	C
AP5M1	55745	genome.wustl.edu	37	14	57746998	57746998	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:57746998A>C	ENST00000261558.3	+	3	1212	c.806A>C	c.(805-807)cAc>cCc	p.H269P	AP5M1_ENST00000431972.2_Missense_Mutation_p.H283P|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	269	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											ATTCTAGTTCACCCTTGTGTA	0.413																																						dbGAP											0													302.0	271.0	282.0					14																	57746998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.806A>C	14.37:g.57746998A>C	ENSP00000261558:p.His269Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.H269P	ENST00000261558.3	37	c.806	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705565	0.89018	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.52295	0.67;0.67	6.03	6.03	0.97812	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75465	-0.3308	10	0.87932	D	0	-1.7313	16.5582	0.84512	1.0:0.0:0.0:0.0	.	269	Q9H0R1	MUDEN_HUMAN	P	269;283	ENSP00000261558:H269P;ENSP00000390531:H283P	ENSP00000261558:H269P	H	+	2	0	MUDENG	56816751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	CAC	AP5M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000053770		0.413	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1	269	0.37	1	A	NM_018229		57746998	57746998	+1	no_errors	ENST00000261558	ensembl	human	known	69_37n	missense	176	19.46	43	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112154664	112154664	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:112154664T>G	ENST00000457016.1	+	10	1315	c.935T>G	c.(934-936)gTg>gGg	p.V312G	APC_ENST00000508376.2_Splice_Site_p.V312G|APC_ENST00000257430.4_Splice_Site_p.V312G			P25054	APC_HUMAN	adenomatous polyposis coli	312	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGCCCACAGGTGGAAATGGTG	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0													178.0	164.0	169.0					5																	112154664		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.934-1T>G	5.37:g.112154664T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V312G	ENST00000457016.1	37	c.935	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339332	0.81911	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.96830	-3.42;-4.14;-3.42;-3.42;-3.62	5.72	5.72	0.89469	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.98024	0.9349	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.988	D	0.98977	1.0803	10	0.87932	D	0	-4.7922	16.0546	0.80788	0.0:0.0:0.0:1.0	.	314;312	Q4LE70;P25054	.;APC_HUMAN	G	312;294;312;312;312	ENSP00000413133:V312G;ENSP00000423224:V294G;ENSP00000257430:V312G;ENSP00000427089:V312G;ENSP00000423828:V312G	ENSP00000257430:V312G	V	+	2	0	APC	112182563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.195000	0.70347	0.524000	0.50904	GTG	APC	-	NULL	ENSG00000134982		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	193	0.00	0	T	NM_000038	Missense_Mutation	112154664	112154664	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	141	10.76	17	SNP	1.000	G
APOA2	336	genome.wustl.edu	37	1	161192946	161192946	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:161192946A>C	ENST00000367990.3	-	3	110				APOA2_ENST00000468465.1_Intron|APOA2_ENST00000470459.2_Intron|APOA2_ENST00000464492.1_Intron|TOMM40L_ENST00000545897.1_5'Flank|TOMM40L_ENST00000367988.3_5'Flank|APOA2_ENST00000491350.1_Intron|APOA2_ENST00000463812.1_Intron	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II						acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCAGTACCCACCCCAGCTCT	0.537																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.53-106T>G	1.37:g.161192946A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R524	RNA	SNP	-	NULL	ENST00000367990.3	37	NULL	CCDS1226.1	1																																																																																			APOA2	-	-	ENSG00000158874		0.537	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA2	HGNC	protein_coding	OTTHUMT00000083037.1	40	0.00	0	A	NM_001643		161192946	161192946	-1	no_errors	ENST00000481413	ensembl	human	known	69_37n	rna	92	22.76	28	SNP	0.113	C
APOB	338	genome.wustl.edu	37	2	21231647	21231647	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:21231647A>C	ENST00000233242.1	-	26	8220	c.8093T>G	c.(8092-8094)gTg>gGg	p.V2698G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2698					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGTCCTCCACCTTCAGATC	0.428																																						dbGAP											0													144.0	148.0	146.0					2																	21231647		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8093T>G	2.37:g.21231647A>C	ENSP00000233242:p.Val2698Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V2698G	ENST00000233242.1	37	c.8093	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	4.654	0.121634	0.08881	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00801	5.68	5.22	2.99	0.34606	.	0.785568	0.11019	N	0.608562	T	0.00496	0.0016	N	0.00926	-1.1	0.29580	N	0.849265	B	0.09022	0.002	B	0.08055	0.003	T	0.39231	-0.9624	10	0.39692	T	0.17	.	7.4742	0.27365	0.6875:0.1937:0.0:0.1187	.	2698	P04114	APOB_HUMAN	G	2698	ENSP00000233242:V2698G	ENSP00000233242:V2698G	V	-	2	0	APOB	21085152	0.016000	0.18221	0.000000	0.03702	0.195000	0.23768	2.777000	0.47717	0.399000	0.25367	0.459000	0.35465	GTG	APOB	-	NULL	ENSG00000084674		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	363	0.27	1	A			21231647	21231647	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	252	10.00	28	SNP	0.008	C
APOB	338	genome.wustl.edu	37	2	21236186	21236186	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:21236186A>C	ENST00000233242.1	-	25	4189	c.4062T>G	c.(4060-4062)ggT>ggG	p.G1354G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1354					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTAGAACACCCAGGAGAG	0.512																																						dbGAP											0													190.0	175.0	180.0					2																	21236186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4062T>G	2.37:g.21236186A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G1354	ENST00000233242.1	37	c.4062	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	248	0.00	0	A			21236186	21236186	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	silent	155	10.34	18	SNP	0.000	C
APOL5	80831	genome.wustl.edu	37	22	36122801	36122801	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:36122801G>A	ENST00000249044.2	+	3	686	c.686G>A	c.(685-687)tGt>tAt	p.C229Y		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	229					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCTGGCTTTTGTGTTAATAAG	0.468																																						dbGAP											0													134.0	142.0	140.0					22																	36122801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.686G>A	22.37:g.36122801G>A	ENSP00000249044:p.Cys229Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.C229Y	ENST00000249044.2	37	c.686	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	G	7.874	0.728843	0.15507	.	.	ENSG00000128313	ENST00000249044	T	0.03272	3.99	3.86	1.64	0.23874	.	2.497240	0.02449	U	0.085330	T	0.05640	0.0148	N	0.22421	0.69	0.09310	N	1	P	0.50369	0.934	P	0.52598	0.703	T	0.42982	-0.9419	10	0.11485	T	0.65	.	6.4833	0.22075	0.0:0.1785:0.4553:0.3662	.	229	Q9BWW9	APOL5_HUMAN	Y	229	ENSP00000249044:C229Y	ENSP00000249044:C229Y	C	+	2	0	APOL5	34452747	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.142000	0.10311	0.123000	0.18342	0.609000	0.83330	TGT	APOL5	-	pfam_ApoL	ENSG00000128313		0.468	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1	153	0.00	0	G	NM_030642		36122801	36122801	+1	no_errors	ENST00000249044	ensembl	human	known	69_37n	missense	137	10.46	16	SNP	0.001	A
APP	351	genome.wustl.edu	37	21	27347409	27347409	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:27347409T>G	ENST00000346798.3	-	11	1465	c.1432A>C	c.(1432-1434)Acc>Ccc	p.T478P	APP_ENST00000348990.5_Missense_Mutation_p.T403P|APP_ENST00000358918.3_Missense_Mutation_p.T478P|APP_ENST00000354192.3_Missense_Mutation_p.T347P|APP_ENST00000359726.3_Missense_Mutation_p.T422P|APP_ENST00000357903.3_Missense_Mutation_p.T459P|APP_ENST00000440126.3_Missense_Mutation_p.T454P|APP_ENST00000448388.2_Missense_Mutation_p.T368P|APP_ENST00000439274.2_Missense_Mutation_p.T422P	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	478					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGCAGAGCGGTGATGTAGTTC	0.607																																						dbGAP											0													93.0	70.0	78.0					21																	27347409		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1432A>C	21.37:g.27347409T>G	ENSP00000284981:p.Thr478Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.T478P	ENST00000346798.3	37	c.1432	CCDS13576.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.63|14.63	2.593340|2.593340	0.46214|0.46214	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000448850|ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	.|T;T;T;T;T;T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.12|4.12	4.12|4.12	0.48240|0.48240	.|Amyloidogenic glycoprotein, E2 domain (2);	.|0.048444	.|0.85682	.|D	.|0.000000	T|T	0.45316|0.45316	0.1336|0.1336	N|N	0.22421|0.22421	0.69|0.69	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;P;D;B;B;P	.|0.60575	.|0.988;0.978;0.48;0.985;0.247;0.247;0.951	.|P;P;B;P;B;B;P	.|0.59357	.|0.856;0.856;0.214;0.699;0.07;0.07;0.797	T|T	0.47849|0.47849	-0.9085|-0.9085	5|10	.|0.56958	.|D	.|0.05	-20.3099|-20.3099	13.825|13.825	0.63346|0.63346	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|368;422;454;347;403;459;478	.|E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.|.;.;.;.;.;.;A4_HUMAN	P|P	380|478;347;403;459;478;422;368;454;422;65	.|ENSP00000284981:T478P;ENSP00000346129:T347P;ENSP00000345463:T403P;ENSP00000350578:T459P;ENSP00000351796:T478P;ENSP00000352760:T422P;ENSP00000388538:T368P;ENSP00000387483:T454P;ENSP00000398879:T422P;ENSP00000397795:T65P	.|ENSP00000284981:T478P	H|T	-|-	2|1	0|0	APP|APP	26269280|26269280	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.942000|0.942000	0.58702|0.58702	2.449000|2.449000	0.44935|0.44935	2.096000|2.096000	0.63516|0.63516	0.383000|0.383000	0.25322|0.25322	CAC|ACC	APP	-	superfamily_Amyloid_glyco_E2_domain	ENSG00000142192		0.607	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	98	1.00	1	T	NM_000484		27347409	27347409	-1	no_errors	ENST00000346798	ensembl	human	known	69_37n	missense	116	15.33	21	SNP	0.997	G
AQP7	364	genome.wustl.edu	37	9	33385049	33385049	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:33385049T>G	ENST00000537089.1	-	0	1383				AQP7_ENST00000377425.4_3'UTR			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGGGGCAGGGTGGACTGAAGA	0.532																																						dbGAP											0													141.0	148.0	146.0					9																	33385049		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.*567A>C	9.37:g.33385049T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin	p.H328P	ENST00000537089.1	37	c.983		9	.	.	.	.	.	.	.	.	.	.	t	3.637	-0.074376	0.07184	.	.	ENSG00000165269	ENST00000379507;ENST00000297988	D;D	0.85484	-1.99;-1.98	3.2	-6.41	0.01938	.	5.535830	0.00166	N	0.000018	T	0.70046	0.3179	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.63646	-0.6590	10	0.41790	T	0.15	3.1608	8.9118	0.35557	0.0:0.4566:0.3757:0.1677	.	328	O14520	AQP7_HUMAN	P	327;328	ENSP00000368821:H327P;ENSP00000297988:H328P	ENSP00000297988:H328P	H	-	2	0	AQP7	33375049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.999000	0.03697	-2.804000	0.00350	-2.744000	0.00126	CAC	AQP7	-	NULL	ENSG00000165269		0.532	AQP7-202	KNOWN	basic	protein_coding	AQP7	HGNC	protein_coding		209	0.00	0	T	NM_001170		33385049	33385049	-1	no_errors	ENST00000297988	ensembl	human	known	69_37n	missense	147	16.48	29	SNP	0.000	G
ARAP3	64411	genome.wustl.edu	37	5	141041273	141041273	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:141041273T>G	ENST00000239440.4	-	21	3162	c.3097A>C	c.(3097-3099)Acc>Ccc	p.T1033P	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.T695P|ARAP3_ENST00000508305.1_Missense_Mutation_p.T864P	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1033	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCAATGAGGGTGGCCAGTGTG	0.522																																						dbGAP											0													96.0	101.0	99.0					5																	141041273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3097A>C	5.37:g.141041273T>G	ENSP00000239440:p.Thr1033Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.T1033P	ENST00000239440.4	37	c.3097	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	T	15.95	2.982621	0.53827	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.19250	2.16;2.16;2.16	5.15	4.0	0.46444	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.122748	0.53938	D	0.000052	T	0.19565	0.0470	L	0.46819	1.47	0.43292	D	0.995275	P;P;P	0.40302	0.637;0.664;0.712	B;B;B	0.41894	0.351;0.369;0.287	T	0.02444	-1.1158	10	0.66056	D	0.02	.	5.6904	0.17827	0.0:0.3108:0.0:0.6892	.	695;864;1033	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	P	864;1033;695	ENSP00000421826:T864P;ENSP00000239440:T1033P;ENSP00000421468:T695P	ENSP00000239440:T1033P	T	-	1	0	ARAP3	141021457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.539000	0.53604	0.993000	0.38866	0.533000	0.62120	ACC	ARAP3	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000120318		0.522	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	143	0.68	1	T	NM_022481		141041273	141041273	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	missense	101	18.40	23	SNP	1.000	G
ARFIP2	23647	genome.wustl.edu	37	11	6501239	6501239	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6501239A>C	ENST00000254584.2	-	3	242	c.159T>G	c.(157-159)ggT>ggG	p.G53G	ARFIP2_ENST00000423813.2_Silent_p.G15G|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000525235.1_Silent_p.G53G|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Missense_Mutation_p.V8G|ARFIP2_ENST00000396777.3_Silent_p.G53G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	53					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCCATAGCCACCAGACACAA	0.537																																					Melanoma(119;796 1674 9049 20480 24794)	dbGAP											0													196.0	187.0	190.0					11																	6501239		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.159T>G	11.37:g.6501239A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.V8G	ENST00000254584.2	37	c.23	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	A	8.778	0.927448	0.18056	.	.	ENSG00000132254	ENST00000445086	T	0.79033	-1.23	5.12	1.14	0.20703	.	.	.	.	.	T	0.68174	0.2972	.	.	.	0.39645	D	0.970376	.	.	.	.	.	.	T	0.62086	-0.6928	5	.	.	.	-16.0453	1.2171	0.01916	0.5253:0.1467:0.1645:0.1635	.	.	.	.	G	8	ENSP00000391427:V8G	.	V	-	2	0	ARFIP2	6457815	0.935000	0.31712	1.000000	0.80357	0.997000	0.91878	-0.023000	0.12456	0.756000	0.33013	0.460000	0.39030	GTG	ARFIP2	-	NULL	ENSG00000132254		0.537	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	408	0.49	2	A	NM_012402		6501239	6501239	-1	no_errors	ENST00000445086	ensembl	human	known	69_37n	missense	361	12.77	53	SNP	0.972	C
ARFIP2	23647	genome.wustl.edu	37	11	6501285	6501285	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6501285A>C	ENST00000254584.2	-	3	196	c.113T>G	c.(112-114)gTg>gGg	p.V38G	ARFIP2_ENST00000423813.2_5'UTR|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V38G|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_5'UTR|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V38G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	38					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGACACCATCACCTGCTGGAG	0.512																																					Melanoma(119;796 1674 9049 20480 24794)	dbGAP											0													149.0	141.0	144.0					11																	6501285		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.113T>G	11.37:g.6501285A>C	ENSP00000254584:p.Val38Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.V38G	ENST00000254584.2	37	c.113	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424272	0.62733	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000525235	T;T	0.79352	-1.26;-1.26	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.991;0.991	D	0.87228	0.2258	10	0.72032	D	0.01	-7.3631	13.7491	0.62897	1.0:0.0:0.0:0.0	.	38;38;38	B4DUZ3;E9PPY7;P53365	.;.;ARFP2_HUMAN	G	38	ENSP00000254584:V38G;ENSP00000379998:V38G	ENSP00000254584:V38G	V	-	2	0	ARFIP2	6457861	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.037000	0.88933	1.923000	0.55706	0.460000	0.39030	GTG	ARFIP2	-	NULL	ENSG00000132254		0.512	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	326	0.61	2	A	NM_012402		6501285	6501285	-1	no_errors	ENST00000254584	ensembl	human	known	69_37n	missense	251	17.05	52	SNP	1.000	C
ARCN1	372	genome.wustl.edu	37	11	118454721	118454721	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118454721A>C	ENST00000264028.4	+	4	740	c.645A>C	c.(643-645)gcA>gcC	p.A215A	ARCN1_ENST00000359415.4_Silent_p.A256A|ARCN1_ENST00000392859.3_Silent_p.A127A|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	215					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGCACCTGCACCAGCCAGGT	0.433																																						dbGAP											0													73.0	69.0	71.0					11																	118454721		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.645A>C	11.37:g.118454721A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1X2|E9PEU4|Q52M80	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.A215	ENST00000264028.4	37	c.645	CCDS8400.1	11																																																																																			ARCN1	-	NULL	ENSG00000095139		0.433	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	97	0.00	0	A			118454721	118454721	+1	no_errors	ENST00000264028	ensembl	human	known	69_37n	silent	62	21.52	17	SNP	0.981	C
ARG1	383	genome.wustl.edu	37	6	131904271	131904271	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:131904271T>G	ENST00000368087.3	+	6	771	c.632T>G	c.(631-633)gTg>gGg	p.V211G	ARG1_ENST00000356962.2_Missense_Mutation_p.V219G|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	211					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	ATTGGCAAGGTGATGGAAGAA	0.358																																						dbGAP											0													103.0	97.0	99.0					6																	131904271		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.632T>G	6.37:g.131904271T>G	ENSP00000357066:p.Val211Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.V219G	ENST00000368087.3	37	c.656	CCDS5145.1	6	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715831	0.89112	.	.	ENSG00000118520	ENST00000368087;ENST00000356962	D;D	0.86230	-2.09;-2.09	5.92	5.92	0.95590	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.97158	0.9836	10	0.87932	D	0	-18.3907	14.3151	0.66443	0.0:0.0:0.0:1.0	.	219;211	P05089-2;P05089	.;ARGI1_HUMAN	G	211;219	ENSP00000357066:V211G;ENSP00000349446:V219G	ENSP00000349446:V219G	V	+	2	0	ARG1	131945964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.710000	0.84655	2.266000	0.75297	0.533000	0.62120	GTG	ARG1	-	pfam_Ureohydrolase,tigrfam_Arginase	ENSG00000118520		0.358	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG1	HGNC	protein_coding	OTTHUMT00000042223.1	207	0.48	1	T			131904271	131904271	+1	no_errors	ENST00000356962	ensembl	human	known	69_37n	missense	110	17.78	24	SNP	1.000	G
ARGFX	503582	genome.wustl.edu	37	3	121305079	121305079	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:121305079A>C	ENST00000334384.3	+	4	590	c.580A>C	c.(580-582)Acc>Ccc	p.T194P		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ATGGAACTCTACCTTCACTGA	0.483																																						dbGAP											0													159.0	154.0	155.0					3																	121305079		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.580A>C	3.37:g.121305079A>C	ENSP00000335578:p.Thr194Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.T194P	ENST00000334384.3	37	c.580	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	A	7.099	0.573744	0.13623	.	.	ENSG00000186103	ENST00000334384	D	0.89196	-2.48	3.33	-2.57	0.06248	.	2.300800	0.01840	N	0.035259	T	0.78824	0.4344	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.63296	-0.6669	10	0.27082	T	0.32	1.9139	4.2464	0.10674	0.3918:0.1996:0.4086:0.0	.	194	A6NJG6	ARGFX_HUMAN	P	194	ENSP00000335578:T194P	ENSP00000335578:T194P	T	+	1	0	ARGFX	122787769	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.647000	0.05397	-0.473000	0.06871	-0.441000	0.05720	ACC	ARGFX	-	NULL	ENSG00000186103		0.483	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	243	0.00	0	A	NM_001012659		121305079	121305079	+1	no_errors	ENST00000334384	ensembl	human	known	69_37n	missense	337	12.40	48	SNP	0.000	C
ARHGAP17	55114	genome.wustl.edu	37	16	24975628	24975628	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:24975628A>C	ENST00000289968.6	-	7	532	c.463T>G	c.(463-465)Tgg>Ggg	p.W155G	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Splice_Site_p.W155G|ARHGAP17_ENST00000441763.2_Splice_Site_p.W155G	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	155	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTGGTTCCACCTGCAAAAC	0.458																																						dbGAP											0													139.0	128.0	132.0					16																	24975628		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.462-1T>G	16.37:g.24975628A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.W155G	ENST00000289968.6	37	c.463	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993103	0.74703	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.63580	-0.05;-0.05;-0.05	5.37	5.37	0.77165	BAR (3);	0.000000	0.41605	D	0.000843	T	0.75568	0.3867	M	0.71581	2.175	0.46542	D	0.999093	P;D;D;D	0.62365	0.89;0.98;0.991;0.99	P;P;P;D	0.63033	0.466;0.844;0.805;0.91	T	0.78425	-0.2209	10	0.66056	D	0.02	.	13.671	0.62424	1.0:0.0:0.0:0.0	.	155;155;155;155	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	G	155	ENSP00000289968:W155G;ENSP00000303130:W155G;ENSP00000406950:W155G	ENSP00000289968:W155G	W	-	1	0	ARHGAP17	24883129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.875000	0.92372	2.168000	0.68352	0.529000	0.55759	TGG	ARHGAP17	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000140750		0.458	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	207	0.00	0	A	NM_018054	Missense_Mutation	24975628	24975628	-1	no_errors	ENST00000289968	ensembl	human	known	69_37n	missense	167	12.11	23	SNP	1.000	C
ARHGAP21	57584	genome.wustl.edu	37	10	24909207	24909207	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:24909207A>C	ENST00000396432.2	-	9	2103	c.1617T>G	c.(1615-1617)ggT>ggG	p.G539G	ARHGAP21_ENST00000320481.6_Silent_p.G326G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	538					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTCACAAATACCTCGTCTAT	0.388																																						dbGAP											0													94.0	95.0	95.0					10																	24909207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1617T>G	10.37:g.24909207A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G539	ENST00000396432.2	37	c.1617	CCDS7144.2	10																																																																																			ARHGAP21	-	NULL	ENSG00000107863		0.388	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	303	0.33	1	A	NM_020824		24909207	24909207	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	silent	264	11.67	35	SNP	0.111	C
ARHGAP24	83478	genome.wustl.edu	37	4	86916075	86916075	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:86916075A>C	ENST00000395184.1	+	9	1734	c.1268A>C	c.(1267-1269)aAc>aCc	p.N423T	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.N328T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.N330T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	423					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTCAAAAAGAACCCAGCCTTT	0.498																																						dbGAP											0													107.0	118.0	114.0					4																	86916075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1268A>C	4.37:g.86916075A>C	ENSP00000378611:p.Asn423Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.N423T	ENST00000395184.1	37	c.1268	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267654	0.40095	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.62723	1.935	0.80722	D	1	B;B;D	0.69078	0.104;0.178;0.997	B;B;D	0.77004	0.171;0.113;0.989	T	0.56001	-0.8051	10	0.22706	T	0.39	.	15.7828	0.78275	1.0:0.0:0.0:0.0	.	328;330;423	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	T	423;328;338;330	ENSP00000378611:N423T;ENSP00000378610:N328T;ENSP00000425589:N338T;ENSP00000264343:N330T	ENSP00000264343:N330T	N	+	2	0	ARHGAP24	87135099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.122000	0.77169	2.125000	0.65367	0.482000	0.46254	AAC	ARHGAP24	-	NULL	ENSG00000138639		0.498	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	560	0.71	4	A	NM_031305		86916075	86916075	+1	no_errors	ENST00000395184	ensembl	human	known	69_37n	missense	316	11.45	41	SNP	1.000	C
ARHGAP24	83478	genome.wustl.edu	37	4	86916536	86916536	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:86916536A>C	ENST00000395184.1	+	9	2195	c.1729A>C	c.(1729-1731)Acc>Ccc	p.T577P	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.T482P|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.T484P	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	577					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTCTACCACCACCTGCCCAGA	0.547																																						dbGAP											0													88.0	85.0	86.0					4																	86916536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1729A>C	4.37:g.86916536A>C	ENSP00000378611:p.Thr577Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.T577P	ENST00000395184.1	37	c.1729	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792557	0.70452	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.14516	2.84;2.51;2.51;2.5	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.67953	2.075	0.80722	D	1	D;D;D	0.71674	0.984;0.997;0.998	P;D;P	0.63113	0.826;0.911;0.905	T	0.02294	-1.1181	10	0.45353	T	0.12	.	15.7648	0.78117	1.0:0.0:0.0:0.0	.	482;484;577	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	P	577;482;492;484	ENSP00000378611:T577P;ENSP00000378610:T482P;ENSP00000425589:T492P;ENSP00000264343:T484P	ENSP00000264343:T484P	T	+	1	0	ARHGAP24	87135560	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.791000	0.91849	2.187000	0.69744	0.402000	0.26972	ACC	ARHGAP24	-	NULL	ENSG00000138639		0.547	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	223	0.89	2	A	NM_031305		86916536	86916536	+1	no_errors	ENST00000395184	ensembl	human	known	69_37n	missense	159	15.26	29	SNP	1.000	C
ARHGAP31	57514	genome.wustl.edu	37	3	119132795	119132795	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119132795A>C	ENST00000264245.4	+	12	2551	c.2019A>C	c.(2017-2019)ccA>ccC	p.P673P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	673	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CATCGTTGCCACCTCCTGCTC	0.522																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													142.0	144.0	143.0					3																	119132795		1988	4164	6152	-	-	-	SO:0001819	synonymous_variant	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2019A>C	3.37:g.119132795A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P673	ENST00000264245.4	37	c.2019	CCDS43135.1	3																																																																																			ARHGAP31	-	NULL	ENSG00000031081		0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	554	0.71	4	A			119132795	119132795	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	silent	367	13.03	55	SNP	0.325	C
ARHGAP31	57514	genome.wustl.edu	37	3	119133013	119133013	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119133013A>C	ENST00000264245.4	+	12	2769	c.2237A>C	c.(2236-2238)cAc>cCc	p.H746P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	746	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGGGCCTGCACCCAGACCTC	0.587																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													53.0	58.0	56.0					3																	119133013		1998	4156	6154	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2237A>C	3.37:g.119133013A>C	ENSP00000264245:p.His746Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.H746P	ENST00000264245.4	37	c.2237	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556965	0.27827	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05996	3.36	5.3	2.31	0.28768	.	0.342627	0.26397	N	0.024612	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.41197	-0.9522	10	0.31617	T	0.26	.	5.7549	0.18168	0.3468:0.0:0.6532:0.0	.	746	Q2M1Z3	RHG31_HUMAN	P	746	ENSP00000264245:H746P	ENSP00000264245:H746P	H	+	2	0	ARHGAP31	120615703	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.969000	0.29370	0.794000	0.33899	-0.242000	0.12053	CAC	ARHGAP31	-	NULL	ENSG00000031081		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	388	0.77	3	A			119133013	119133013	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	234	13.28	36	SNP	0.000	C
ARHGAP31	57514	genome.wustl.edu	37	3	119133490	119133490	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119133490T>G	ENST00000264245.4	+	12	3246	c.2714T>G	c.(2713-2715)gTg>gGg	p.V905G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	905					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTGGAGATGGTGGAGCCCTGG	0.577																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													97.0	102.0	100.0					3																	119133490		2046	4194	6240	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2714T>G	3.37:g.119133490T>G	ENSP00000264245:p.Val905Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V905G	ENST00000264245.4	37	c.2714	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018966	0.54576	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.10960	2.82	4.7	3.5	0.40072	.	0.000000	0.49916	D	0.000123	T	0.08358	0.0208	L	0.34521	1.04	0.58432	D	0.999999	B	0.20887	0.049	B	0.19666	0.026	T	0.14896	-1.0456	10	0.72032	D	0.01	.	6.3361	0.21296	0.1584:0.0:0.1651:0.6765	.	905	Q2M1Z3	RHG31_HUMAN	G	905	ENSP00000264245:V905G	ENSP00000264245:V905G	V	+	2	0	ARHGAP31	120616180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.330000	0.52068	0.781000	0.33589	0.459000	0.35465	GTG	ARHGAP31	-	NULL	ENSG00000031081		0.577	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	499	0.00	0	T			119133490	119133490	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	282	14.76	49	SNP	1.000	G
ARHGAP31	57514	genome.wustl.edu	37	3	119133956	119133956	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119133956T>G	ENST00000264245.4	+	12	3712	c.3180T>G	c.(3178-3180)ggT>ggG	p.G1060G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1060					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTAGGCAAGGTGGTGTTCCTG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													144.0	160.0	155.0					3																	119133956		2142	4257	6399	-	-	-	SO:0001819	synonymous_variant	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3180T>G	3.37:g.119133956T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G1060	ENST00000264245.4	37	c.3180	CCDS43135.1	3																																																																																			ARHGAP31	-	NULL	ENSG00000031081		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	478	0.21	1	T			119133956	119133956	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	silent	260	16.40	51	SNP	0.000	G
ARHGAP31	57514	genome.wustl.edu	37	3	119134105	119134105	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119134105A>C	ENST00000264245.4	+	12	3861	c.3329A>C	c.(3328-3330)gAc>gCc	p.D1110A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1110					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTCAACTTGGACCCTGCCATT	0.532																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													132.0	132.0	132.0					3																	119134105		1990	4171	6161	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3329A>C	3.37:g.119134105A>C	ENSP00000264245:p.Asp1110Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D1110A	ENST00000264245.4	37	c.3329	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617608	0.66787	.	.	ENSG00000031081	ENST00000264245	T	0.20881	2.04	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000009	T	0.46619	0.1402	M	0.69823	2.125	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.46414	-0.9193	10	0.87932	D	0	.	15.0033	0.71492	1.0:0.0:0.0:0.0	.	1110	Q2M1Z3	RHG31_HUMAN	A	1110	ENSP00000264245:D1110A	ENSP00000264245:D1110A	D	+	2	0	ARHGAP31	120616795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.956000	0.63645	2.315000	0.78130	0.533000	0.62120	GAC	ARHGAP31	-	NULL	ENSG00000031081		0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	413	0.48	2	A			119134105	119134105	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	239	13.72	38	SNP	1.000	C
ARHGAP31	57514	genome.wustl.edu	37	3	119134404	119134404	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119134404A>C	ENST00000264245.4	+	12	4160	c.3628A>C	c.(3628-3630)Acc>Ccc	p.T1210P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1210					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GATTCAGTACACCCAGATCCC	0.592																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													52.0	57.0	55.0					3																	119134404		1984	4154	6138	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3628A>C	3.37:g.119134404A>C	ENSP00000264245:p.Thr1210Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T1210P	ENST00000264245.4	37	c.3628	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212242	0.79240	.	.	ENSG00000031081	ENST00000264245	T	0.12774	2.65	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000006	T	0.27967	0.0689	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.71414	0.973	T	0.01068	-1.1462	10	0.87932	D	0	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	1210	Q2M1Z3	RHG31_HUMAN	P	1210	ENSP00000264245:T1210P	ENSP00000264245:T1210P	T	+	1	0	ARHGAP31	120617094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ACC	ARHGAP31	-	NULL	ENSG00000031081		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	255	0.78	2	A			119134404	119134404	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	133	13.07	20	SNP	1.000	C
ARHGAP31	57514	genome.wustl.edu	37	3	119134914	119134914	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119134914A>C	ENST00000264245.4	+	12	4670	c.4138A>C	c.(4138-4140)Acc>Ccc	p.T1380P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1380			T -> I (in dbSNP:rs9852894).		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGAAGTCCCACCCAGACAGT	0.498																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													109.0	106.0	107.0					3																	119134914		1905	4114	6019	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.4138A>C	3.37:g.119134914A>C	ENSP00000264245:p.Thr1380Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T1380P	ENST00000264245.4	37	c.4138	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378256	0.61735	.	.	ENSG00000031081	ENST00000264245	T	0.57273	0.41	6.17	2.54	0.30619	.	0.288040	0.30036	N	0.010570	T	0.37210	0.0995	L	0.29908	0.895	0.36986	D	0.894524	P	0.46395	0.877	B	0.41860	0.368	T	0.40776	-0.9545	10	0.87932	D	0	.	5.8124	0.18473	0.7393:0.0:0.1355:0.1251	.	1380	Q2M1Z3	RHG31_HUMAN	P	1380	ENSP00000264245:T1380P	ENSP00000264245:T1380P	T	+	1	0	ARHGAP31	120617604	0.677000	0.27577	0.996000	0.52242	0.929000	0.56500	2.197000	0.42696	0.546000	0.28920	0.533000	0.62120	ACC	ARHGAP31	-	NULL	ENSG00000031081		0.498	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	520	0.95	5	A			119134914	119134914	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	298	14.97	53	SNP	0.990	C
ARHGAP32	9743	genome.wustl.edu	37	11	128842500	128842500	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:128842500T>G	ENST00000310343.9	-	21	3858	c.3859A>C	c.(3859-3861)Acc>Ccc	p.T1287P	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T938P|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T938P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1287					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCAGCAGTGGTGGGTTGTTCA	0.552																																						dbGAP											0													101.0	97.0	98.0					11																	128842500		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3859A>C	11.37:g.128842500T>G	ENSP00000310561:p.Thr1287Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.T1287P	ENST00000310343.9	37	c.3859	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	T	8.269	0.813038	0.16537	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.10477	2.88;2.87;2.87	5.71	-9.76	0.00503	.	1.523320	0.03935	N	0.285898	T	0.07863	0.0197	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.42905	T	0.14	.	4.1856	0.10397	0.0911:0.251:0.4261:0.2317	.	1287	A7KAX9	RHG32_HUMAN	P	1287;938;938	ENSP00000310561:T1287P;ENSP00000376425:T938P;ENSP00000432862:T938P	ENSP00000310561:T1287P	T	-	1	0	ARHGAP32	128347710	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.021000	0.03615	-1.443000	0.01953	-0.250000	0.11733	ACC	ARHGAP32	-	NULL	ENSG00000134909		0.552	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	149	0.00	0	T	NM_014715		128842500	128842500	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	0.000	G
ARHGAP32	9743	genome.wustl.edu	37	11	128842747	128842747	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:128842747T>G	ENST00000310343.9	-	21	3611	c.3612A>C	c.(3610-3612)ccA>ccC	p.P1204P	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.P855P|ARHGAP32_ENST00000392657.3_Silent_p.P855P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1204					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAAACGGGGTGGAGACTGGT	0.468																																						dbGAP											0													82.0	85.0	84.0					11																	128842747		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3612A>C	11.37:g.128842747T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P1204	ENST00000310343.9	37	c.3612	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.468	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	173	0.57	1	T	NM_014715		128842747	128842747	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	silent	82	21.82	24	SNP	0.000	G
ARHGAP32	9743	genome.wustl.edu	37	11	128844695	128844695	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:128844695T>G	ENST00000310343.9	-	20	2354	c.2355A>C	c.(2353-2355)ccA>ccC	p.P785P	ARHGAP32_ENST00000524655.1_Silent_p.P711P|ARHGAP32_ENST00000527272.1_Silent_p.P436P|ARHGAP32_ENST00000392657.3_Silent_p.P436P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAATGTCTGGTGGGCTCAAGT	0.478																																						dbGAP											0													69.0	64.0	66.0					11																	128844695		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2355A>C	11.37:g.128844695T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P785	ENST00000310343.9	37	c.2355	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	163	0.00	0	T	NM_014715		128844695	128844695	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	silent	103	15.45	19	SNP	0.971	G
ARHGAP36	158763	genome.wustl.edu	37	X	130219633	130219633	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:130219633A>C	ENST00000276211.5	+	8	1372	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.T331P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.T207P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	343	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCACAGTGATACCCTGGAGCG	0.498																																						dbGAP											0													196.0	197.0	197.0					X																	130219633		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1027A>C	X.37:g.130219633A>C	ENSP00000276211:p.Thr343Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T343P	ENST00000276211.5	37	c.1027	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375269	0.61735	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.98	3.81	0.43845	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.49305	D	0.000156	T	0.58424	0.2121	H	0.96748	3.875	0.54753	D	0.999985	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.68039	0.925;0.925;0.955	T	0.62618	-0.6816	10	0.87932	D	0	.	6.417	0.21721	0.8897:0.0:0.1103:0.0	.	312;331;343	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	P	343;331;312;207	ENSP00000276211:T343P;ENSP00000359960:T331P;ENSP00000408515:T312P;ENSP00000359959:T207P	ENSP00000276211:T343P	T	+	1	0	ARHGAP36	130047314	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	6.156000	0.71840	0.717000	0.32145	0.486000	0.48141	ACC	ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000147256		0.498	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	777	0.51	4	A	NM_144967		130219633	130219633	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	missense	602	11.29	77	SNP	1.000	C
ARHGAP36	158763	genome.wustl.edu	37	X	130220304	130220304	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:130220304T>G	ENST00000276211.5	+	10	1628	c.1283T>G	c.(1282-1284)gTg>gGg	p.V428G	ARHGAP36_ENST00000370922.1_Splice_Site_p.V416G|ARHGAP36_ENST00000370921.1_Splice_Site_p.V292G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	428					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TACCCTCAGGTGCCTCCCCAT	0.483																																						dbGAP											0													97.0	86.0	90.0					X																	130220304		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1282-1T>G	X.37:g.130220304T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V428G	ENST00000276211.5	37	c.1283	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054130	0.36277	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.16597	2.33;2.33;2.37;2.44	4.69	4.69	0.59074	Rho GTPase-activating protein domain (1);	0.000000	0.40818	N	0.001014	T	0.18800	0.0451	N	0.08118	0	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;P	0.66351	0.943;0.943;0.879	T	0.10086	-1.0645	10	0.62326	D	0.03	.	9.4588	0.38772	0.0:0.0:0.0:1.0	.	397;416;428	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	G	428;416;397;292	ENSP00000276211:V428G;ENSP00000359960:V416G;ENSP00000408515:V397G;ENSP00000359959:V292G	ENSP00000276211:V428G	V	+	2	0	ARHGAP36	130047985	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	2.849000	0.48286	1.833000	0.53350	0.486000	0.48141	GTG	ARHGAP36	-	NULL	ENSG00000147256		0.483	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	284	0.00	0	T	NM_144967	Missense_Mutation	130220304	130220304	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	missense	185	13.49	29	SNP	1.000	G
ARHGAP5	394	genome.wustl.edu	37	14	32562266	32562266	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:32562266A>C	ENST00000345122.3	+	2	2706	c.2391A>C	c.(2389-2391)tcA>tcC	p.S797S	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S797S|ARHGAP5_ENST00000539826.2_Silent_p.S797S|ARHGAP5_ENST00000556611.1_Silent_p.S797S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	797					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTATTCTTTCACCCTTCCTTG	0.418																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													143.0	133.0	136.0					14																	32562266		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2391A>C	14.37:g.32562266A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.S797	ENST00000345122.3	37	c.2391	CCDS32062.1	14																																																																																			ARHGAP5	-	NULL	ENSG00000100852		0.418	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	226	0.00	0	A	NM_001030055		32562266	32562266	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	silent	249	11.35	32	SNP	1.000	C
ARHGDIB	397	genome.wustl.edu	37	12	15095426	15095426	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:15095426T>G	ENST00000228945.4	-	0	780				ARHGDIB_ENST00000541644.1_3'UTR|ARHGDIB_ENST00000539131.1_5'UTR	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta						actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TTCTTCCAGGTGGCAAGGGTG	0.542																																						dbGAP											0													97.0	84.0	88.0					12																	15095426		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.*30A>C	12.37:g.15095426T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU79	RNA	SNP	-	NULL	ENST00000228945.4	37	NULL	CCDS8671.1	12																																																																																			ARHGDIB	-	-	ENSG00000111348		0.542	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIB	HGNC	protein_coding	OTTHUMT00000400871.1	149	0.00	0	T	NM_001175		15095426	15095426	-1	no_errors	ENST00000539131	ensembl	human	known	69_37n	rna	113	21.09	31	SNP	0.033	G
ARHGEF19	128272	genome.wustl.edu	37	1	16525026	16525026	+	3'UTR	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:16525026T>C	ENST00000270747.3	-	0	2601				ARHGEF19-AS1_ENST00000457809.1_RNA|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19						regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGGCCCCTCCAGGACCAT	0.637																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.*56A>G	1.37:g.16525026T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	RNA	SNP	-	NULL	ENST00000270747.3	37	NULL	CCDS170.1	1																																																																																			ARHGEF19	-	-	ENSG00000142632		0.637	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	101	0.00	0	T	NM_153213		16525026	16525026	-1	no_errors	ENST00000478117	ensembl	human	known	69_37n	rna	65	16.67	13	SNP	0.001	C
ARHGEF25	115557	genome.wustl.edu	37	12	58009621	58009621	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:58009621T>G	ENST00000286494.4	+	13	1701	c.1241T>G	c.(1240-1242)gTg>gGg	p.V414G	ARHGEF25_ENST00000333972.7_Splice_Site_p.V453G|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	414	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAATTCAGGTGAGCTGCCTG	0.612																																						dbGAP											0													59.0	60.0	60.0					12																	58009621		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1240-1T>G	12.37:g.58009621T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V453G	ENST00000286494.4	37	c.1358	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	t	20.4	3.986283	0.74589	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.14266	2.52;2.52	4.91	4.91	0.64330	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.34460	N	0.003949	T	0.38772	0.1053	M	0.85197	2.74	0.80722	D	1	D;D	0.65815	0.995;0.983	D;P	0.64410	0.925;0.882	T	0.38156	-0.9674	10	0.87932	D	0	.	12.823	0.57704	0.0:0.0:0.0:1.0	.	453;414	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	G	453;414	ENSP00000335560:V453G;ENSP00000286494:V414G	ENSP00000286494:V414G	V	+	2	0	ARHGEF25	56295888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.482000	0.81143	2.200000	0.70718	0.459000	0.35465	GTG	ARHGEF25	-	pfscan_Pleckstrin_homology	ENSG00000240771		0.612	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	82	0.00	0	T	NM_133483	Missense_Mutation	58009621	58009621	+1	no_errors	ENST00000333972	ensembl	human	known	69_37n	missense	55	21.13	15	SNP	1.000	G
ARHGEF5	7984	genome.wustl.edu	37	7	144077001	144077001	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:144077001A>G	ENST00000056217.5	+	15	4820	c.4646A>G	c.(4645-4647)gAg>gGg	p.E1549G	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E471G	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1549	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGCTGGCTGGAGGGCGTGAGG	0.567																																						dbGAP											0													115.0	125.0	121.0					7																	144077001		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4646A>G	7.37:g.144077001A>G	ENSP00000056217:p.Glu1549Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E1549G	ENST00000056217.5	37	c.4646	CCDS34771.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.661161|4.661161	0.88154|0.88154	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	T;T|.	0.52526|.	0.66;0.66|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Src homology-3 domain (4);|.	0.132316|.	0.49305|.	D|.	0.000157|.	T|T	0.79358|0.79358	0.4432|0.4432	M|M	0.88775|0.88775	2.98|2.98	0.53688|0.53688	D|D	0.99997|0.99997	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.982;0.997|.	T|T	0.82940|0.82940	-0.0208|-0.0208	10|5	0.72032|.	D|.	0.01|.	-19.6181|-19.6181	13.0992|13.0992	0.59210|0.59210	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	350;1549|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	G|G	1549;350;471|749	ENSP00000056217:E1549G;ENSP00000418227:E471G|.	ENSP00000056217:E1549G|.	E|R	+|+	2|1	0|2	ARHGEF5|ARHGEF5	143707934|143707934	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	8.690000|8.690000	0.91272|0.91272	2.190000|2.190000	0.69967|0.69967	0.460000|0.460000	0.39030|0.39030	GAG|AGG	ARHGEF5	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000050327		0.567	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	107	0.00	0	A	NM_005435		144077001	144077001	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	missense	115	19.73	29	SNP	1.000	G
ARID1A	8289	genome.wustl.edu	37	1	27101596	27101596	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:27101596A>C	ENST00000324856.7	+	18	5249	c.4878A>C	c.(4876-4878)gcA>gcC	p.A1626A	ARID1A_ENST00000457599.2_Silent_p.A1409A|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.A1243A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1626					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGCACATAGCACCTGCCCCTG	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													66.0	69.0	68.0					1																	27101596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4878A>C	1.37:g.27101596A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	NULL	p.H79P	ENST00000324856.7	37	c.236	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	A	5.744	0.321727	0.10845	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.01	-1.25	0.09405	.	.	.	.	.	T	0.56934	0.2019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51631	-0.8681	4	.	.	.	-5.7933	10.3525	0.43945	0.5365:0.0:0.4635:0.0	.	.	.	.	P	523	.	.	T	+	1	0	ARID1A	26974183	0.854000	0.29725	0.992000	0.48379	0.937000	0.57800	0.055000	0.14229	-0.392000	0.07751	-0.256000	0.11100	ACC	ARID1A	-	NULL	ENSG00000117713		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	122	0.80	1	A	NM_139135		27101596	27101596	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000532781	ensembl	human	known	69_37n	missense	113	17.52	24	SNP	0.991	C
ARID1A	8289	genome.wustl.edu	37	1	27106702	27106702	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:27106702A>C	ENST00000324856.7	+	20	6684	c.6313A>C	c.(6313-6315)Acc>Ccc	p.T2105P	ARID1A_ENST00000457599.2_Missense_Mutation_p.T1888P|ARID1A_ENST00000540690.1_Missense_Mutation_p.T433P|ARID1A_ENST00000374152.2_Missense_Mutation_p.T1722P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2105					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTTTTCCACCCTGGGCCC	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													87.0	85.0	86.0					1																	27106702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6313A>C	1.37:g.27106702A>C	ENSP00000320485:p.Thr2105Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T2105P	ENST00000324856.7	37	c.6313	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.53|13.53	2.265843|2.265843	0.40095|0.40095	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.36157	.|1.27;1.27;1.27;1.27	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Armadillo-like helical (1);	.|0.049142	.|0.85682	.|D	.|0.000000	T|T	0.50548|0.50548	0.1622|0.1622	L|L	0.56769|0.56769	1.78|1.78	0.43467|0.43467	D|D	0.995679|0.995679	.|D;D;D	.|0.57571	.|0.98;0.966;0.958	.|P;P;P	.|0.57679	.|0.773;0.825;0.731	T|T	0.48937|0.48937	-0.8990|-0.8990	5|10	.|0.44086	.|T	.|0.13	-4.5829|-4.5829	15.1466|15.1466	0.72657|0.72657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1722;2105;1888	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	P|P	1001|2105;1888;1722;433	.|ENSP00000320485:T2105P;ENSP00000387636:T1888P;ENSP00000363267:T1722P;ENSP00000442437:T433P	.|ENSP00000320485:T2105P	H|T	+|+	2|1	0|0	ARID1A|ARID1A	26979289|26979289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.666000|5.666000	0.68059|0.68059	2.233000|2.233000	0.73108|0.73108	0.477000|0.477000	0.44152|0.44152	CAC|ACC	ARID1A	-	pfam_DUF3518	ENSG00000117713		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	226	0.87	2	A	NM_139135		27106702	27106702	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	205	14.17	34	SNP	1.000	C
ARID5B	84159	genome.wustl.edu	37	10	63699970	63699970	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:63699970T>G	ENST00000279873.7	+	3	715	c.305T>G	c.(304-306)gTg>gGg	p.V102G		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	102					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCCGAAAAGGTGATTGTGAAG	0.453																																						dbGAP											0													150.0	141.0	144.0					10																	63699970		2203	4300	6503	-	-	-	SO:0001583	missense	0			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.305T>G	10.37:g.63699970T>G	ENSP00000279873:p.Val102Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.V102G	ENST00000279873.7	37	c.305	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753929	0.69648	.	.	ENSG00000150347	ENST00000279873	T	0.59772	0.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.986	T	0.77643	-0.2511	10	0.87932	D	0	-15.4784	15.9579	0.79902	0.0:0.0:0.0:1.0	.	102;102	Q14865-3;Q14865	.;ARI5B_HUMAN	G	102	ENSP00000279873:V102G	ENSP00000279873:V102G	V	+	2	0	ARID5B	63369976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	GTG	ARID5B	-	NULL	ENSG00000150347		0.453	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	139	0.00	0	T	XM_084482		63699970	63699970	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	missense	113	12.31	16	SNP	1.000	G
ARID5B	84159	genome.wustl.edu	37	10	63852666	63852666	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:63852666A>C	ENST00000279873.7	+	10	3854	c.3444A>C	c.(3442-3444)acA>acC	p.T1148T	ARID5B_ENST00000309334.5_Silent_p.T905T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1148					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTGCGGCTACACCTGTAGGAA	0.478																																						dbGAP											0													116.0	122.0	120.0					10																	63852666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3444A>C	10.37:g.63852666A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1148	ENST00000279873.7	37	c.3444	CCDS31208.1	10																																																																																			ARID5B	-	NULL	ENSG00000150347		0.478	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	174	0.00	0	A	XM_084482		63852666	63852666	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	silent	154	14.92	27	SNP	0.988	C
ARMCX3	51566	genome.wustl.edu	37	X	100880200	100880200	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100880200A>C	ENST00000341189.4	+	5	1097	c.231A>C	c.(229-231)ccA>ccC	p.P77P	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Silent_p.P77P|ARMCX3_ENST00000537169.1_Silent_p.P77P	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	77					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TATGGTACCCACCTTGGGCTC	0.577																																						dbGAP											0													97.0	95.0	96.0					X																	100880200		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.231A>C	X.37:g.100880200A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.P77	ENST00000341189.4	37	c.231	CCDS14489.1	X																																																																																			ARMCX3	-	NULL	ENSG00000102401		0.577	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	266	0.00	0	A	NM_016607		100880200	100880200	+1	no_errors	ENST00000341189	ensembl	human	known	69_37n	silent	340	10.97	42	SNP	0.999	C
ARMCX2	9823	genome.wustl.edu	37	X	100912810	100912810	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100912810A>C	ENST00000328766.5	-	5	327				ARMCX2_ENST00000356824.4_Intron|ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Intron	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2							integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCGGGCTAGCACCCAGACACA	0.468																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.127-109T>G	X.37:g.100912810A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60267|Q5H9D9	RNA	SNP	-	NULL	ENST00000328766.5	37	NULL	CCDS14490.1	X																																																																																			ARMCX2	-	-	ENSG00000184867		0.468	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	25	0.00	0	A	NM_014782		100912810	100912810	-1	no_errors	ENST00000467416	ensembl	human	known	69_37n	rna	15	34.78	8	SNP	0.007	C
ARMCX5	64860	genome.wustl.edu	37	X	101857234	101857234	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:101857234T>G	ENST00000604957.1	+	1	2787	c.165T>G	c.(163-165)ggT>ggG	p.G55G	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.G55G|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Silent_p.G55G|ARMCX5_ENST00000537008.1_Silent_p.G55G|ARMCX5_ENST00000536530.1_Silent_p.G55G|ARMCX5_ENST00000372742.1_Silent_p.G55G	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	55										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAAAGCTGGTGATGGAGCAA	0.512																																						dbGAP											0													125.0	92.0	103.0					X																	101857234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.165T>G	X.37:g.101857234T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.G55	ENST00000604957.1	37	c.165	CCDS14500.1	X																																																																																			ARMCX5	-	NULL	ENSG00000125962		0.512	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	343	0.57	2	T	NM_022838		101857234	101857234	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	silent	280	13.00	42	SNP	0.000	G
ARMCX5	64860	genome.wustl.edu	37	X	101857287	101857287	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:101857287T>G	ENST00000604957.1	+	1	2840	c.218T>G	c.(217-219)gTg>gGg	p.V73G	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.V73G|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V73G|ARMCX5_ENST00000537008.1_Missense_Mutation_p.V73G|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V73G|ARMCX5_ENST00000372742.1_Missense_Mutation_p.V73G	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	73										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTATGGCTGTGACAAGGGAA	0.493																																						dbGAP											0													155.0	107.0	124.0					X																	101857287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.218T>G	X.37:g.101857287T>G	ENSP00000474720:p.Val73Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.V73G	ENST00000604957.1	37	c.218	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	T	5.775	0.327368	0.10956	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	3.6	1.03	0.20045	.	1.162730	0.06599	N	0.753521	T	0.11153	0.0272	N	0.14661	0.345	0.21445	N	0.999682	B	0.30482	0.281	B	0.24269	0.052	T	0.34502	-0.9826	10	0.23302	T	0.38	1.3642	6.8104	0.23801	0.5916:0.0:0.0:0.4083	.	73	Q6P1M9	ARMX5_HUMAN	G	73	ENSP00000246174:V73G;ENSP00000439001:V73G;ENSP00000446385:V73G;ENSP00000445851:V73G;ENSP00000361827:V73G	ENSP00000246174:V73G	V	+	2	0	ARMCX5	101743943	0.006000	0.16342	0.003000	0.11579	0.289000	0.27227	0.201000	0.17276	0.099000	0.17552	-0.396000	0.06452	GTG	ARMCX5	-	NULL	ENSG00000125962		0.493	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	426	0.70	3	T	NM_022838		101857287	101857287	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	missense	358	10.72	43	SNP	0.029	G
ARNT2	9915	genome.wustl.edu	37	15	80767444	80767444	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:80767444A>C	ENST00000303329.4	+	5	667	c.502A>C	c.(502-504)Acc>Ccc	p.T168P	ARNT2_ENST00000533983.1_Missense_Mutation_p.T157P|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.T157P	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	168	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGACTCCGTCACCCCTGTTCT	0.507																																						dbGAP											0													181.0	172.0	175.0					15																	80767444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.502A>C	15.37:g.80767444A>C	ENSP00000307479:p.Thr168Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat,tigrfam_PAS	p.T168P	ENST00000303329.4	37	c.502	CCDS32307.1	15	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055298	0.75960	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.18657	2.2	4.65	4.65	0.58169	PAS (2);PAS fold (1);	0.050002	0.85682	D	0.000000	T	0.56920	0.2018	H	0.94964	3.605	0.80722	D	1	P;B	0.51351	0.944;0.007	D;B	0.68943	0.961;0.078	T	0.69818	-0.5042	10	0.72032	D	0.01	.	14.2528	0.66031	1.0:0.0:0.0:0.0	.	168;168	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	P	157;168;168	ENSP00000307479:T168P	ENSP00000307479:T168P	T	+	1	0	ARNT2	78554499	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.549000	0.73900	1.947000	0.56498	0.448000	0.29417	ACC	ARNT2	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat	ENSG00000172379		0.507	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	234	0.00	0	A			80767444	80767444	+1	no_errors	ENST00000303329	ensembl	human	known	69_37n	missense	212	16.54	42	SNP	1.000	C
ARSG	22901	genome.wustl.edu	37	17	66416439	66416439	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:66416439T>G	ENST00000448504.2	+	12	2209	c.1413T>G	c.(1411-1413)ggT>ggG	p.G471G	WIPI1_ENST00000589459.1_5'Flank|RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000452479.2_Silent_p.G307G|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	471					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAAAGAGGTGGTGCGGAGT	0.557																																						dbGAP											0													138.0	128.0	131.0					17																	66416439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1413T>G	17.37:g.66416439T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXF2|Q9Y2K4	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G471	ENST00000448504.2	37	c.1413	CCDS11676.1	17																																																																																			ARSG	-	superfamily_Alkaline_phosphatase_core	ENSG00000141337		0.557	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1	167	0.00	0	T	NM_014960		66416439	66416439	+1	no_errors	ENST00000448504	ensembl	human	known	69_37n	silent	164	16.33	32	SNP	0.000	G
ARSK	153642	genome.wustl.edu	37	5	94936700	94936700	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:94936700A>C	ENST00000380009.4	+	7	1451	c.1246A>C	c.(1246-1248)Acc>Ccc	p.T416P		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	416					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAATGCCTCCACCTACATGCT	0.373																																						dbGAP											0													149.0	138.0	142.0					5																	94936700		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1246A>C	5.37:g.94936700A>C	ENSP00000369346:p.Thr416Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.T416P	ENST00000380009.4	37	c.1246	CCDS4073.1	5	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504249	0.26949	.	.	ENSG00000164291	ENST00000380009	D	0.99896	-7.6	5.84	2.15	0.27550	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.096814	0.64402	D	0.000001	D	0.99775	0.9907	M	0.73430	2.235	0.47584	D	0.999466	D	0.67145	0.996	D	0.65573	0.936	D	0.98429	1.0581	10	0.35671	T	0.21	-6.1446	10.0784	0.42375	0.7451:0.0:0.2549:0.0	.	416	Q6UWY0	ARSK_HUMAN	P	416	ENSP00000369346:T416P	ENSP00000369346:T416P	T	+	1	0	ARSK	94962456	0.941000	0.31946	0.809000	0.32408	0.026000	0.11368	3.963000	0.56773	0.137000	0.18759	-0.899000	0.02877	ACC	ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000164291		0.373	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	271	0.00	0	A	NM_198150		94936700	94936700	+1	no_errors	ENST00000380009	ensembl	human	known	69_37n	missense	171	13.20	26	SNP	0.542	C
AS3MT	57412	genome.wustl.edu	37	10	104638149	104638149	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:104638149T>G	ENST00000369880.3	+	8	701	c.624T>G	c.(622-624)ggT>ggG	p.G208G	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	208					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AGTGTCTGGGTGGTGCTTTAT	0.383																																						dbGAP											0													194.0	187.0	189.0					10																	104638149		1873	4119	5992	-	-	-	SO:0001819	synonymous_variant	0			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.624T>G	10.37:g.104638149T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Silent	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel	p.G208	ENST00000369880.3	37	c.624	CCDS41567.1	10																																																																																			AS3MT	-	NULL	ENSG00000214435		0.383	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	HGNC	protein_coding	OTTHUMT00000050107.1	311	0.63	2	T	NM_020682		104638149	104638149	+1	no_errors	ENST00000369880	ensembl	human	known	69_37n	silent	172	19.63	42	SNP	0.975	G
ASAP3	55616	genome.wustl.edu	37	1	23762311	23762311	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23762311T>G	ENST00000336689.3	-	17	1794				ASAP3_ENST00000437606.2_Intron|ASAP3_ENST00000495646.1_Intron	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3						cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTTAGACAGGTGGGTTATAAG	0.562																																						dbGAP											0													100.0	108.0	106.0					1																	23762311		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1749+32A>C	1.37:g.23762311T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom	p.T122P	ENST00000336689.3	37	c.364	CCDS235.1	1																																																																																			ASAP3	-	NULL	ENSG00000088280		0.562	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	80	0.00	0	T	NM_017707		23762311	23762311	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000484418	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	0.000	G
ASB14	142686	genome.wustl.edu	37	3	57311899	57311899	+	Missense_Mutation	SNP	A	A	C	rs144869209		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:57311899A>C	ENST00000389601.3	-	10	1601	c.1481T>G	c.(1480-1482)gTt>gGt	p.V494G	ASB14_ENST00000487349.1_Missense_Mutation_p.V494G	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	494					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CACTCGAACAACCTTTCCAGA	0.368																																						dbGAP											0													79.0	74.0	75.0					3																	57311899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"""Ankyrin repeat domain containing"""	19766	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 14"""			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.1481T>G	3.37:g.57311899A>C	ENSP00000374252:p.Val494Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JX97|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.V494G	ENST00000389601.3	37	c.1481		3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.484306	0.84854	.	.	ENSG00000239388	ENST00000487349;ENST00000389601;ENST00000438870	T;T	0.72505	-0.6;-0.66	5.13	5.13	0.70059	.	.	.	.	.	D	0.83151	0.5192	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.73380	0.98;0.97	D	0.85576	0.1237	9	0.87932	D	0	.	15.1006	0.72273	1.0:0.0:0.0:0.0	.	494;209	C9JX97;A6NK59-2	.;.	G	494;494;330	ENSP00000419199:V494G;ENSP00000374252:V494G	ENSP00000374252:V494G	V	-	2	0	ASB14	57286939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.611000	0.90905	2.150000	0.67090	0.455000	0.32223	GTT	ASB14	-	NULL	ENSG00000239388		0.368	ASB14-201	KNOWN	basic	protein_coding	ASB14	HGNC	protein_coding		115	0.86	1	A			57311899	57311899	-1	no_errors	ENST00000389601	ensembl	human	known	69_37n	missense	71	22.83	21	SNP	1.000	C
ASCC2	84164	genome.wustl.edu	37	22	30198154	30198154	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:30198154A>C	ENST00000397771.2	-	15	1574	c.1397T>G	c.(1396-1398)gTg>gGg	p.V466G	ASCC2_ENST00000542393.1_Missense_Mutation_p.V390G|ASCC2_ENST00000307790.3_Missense_Mutation_p.V466G			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCAGTTCCACCCCACACAT	0.612																																						dbGAP											0													63.0	59.0	60.0					22																	30198154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1397T>G	22.37:g.30198154A>C	ENSP00000380877:p.Val466Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.V466G	ENST00000397771.2	37	c.1397	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113113	0.37339	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.47869	0.83;0.83;0.83	5.64	5.64	0.86602	UBA-like (1);	0.115643	0.64402	D	0.000015	T	0.38480	0.1042	L	0.29908	0.895	0.80722	D	1	B;B	0.24043	0.096;0.051	B;B	0.27887	0.084;0.039	T	0.15665	-1.0429	10	0.26408	T	0.33	-22.3461	15.1937	0.73067	1.0:0.0:0.0:0.0	.	390;466	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	G	466;466;390	ENSP00000305502:V466G;ENSP00000380877:V466G;ENSP00000437570:V390G	ENSP00000305502:V466G	V	-	2	0	ASCC2	28528154	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	4.474000	0.60203	2.367000	0.80283	0.528000	0.53228	GTG	ASCC2	-	superfamily_UBA-like	ENSG00000100325		0.612	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	33	0.00	0	A	NM_032204		30198154	30198154	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	1.000	C
ASCC3	10973	genome.wustl.edu	37	6	100964164	100964164	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:100964164A>C	ENST00000369162.2	-	39	6311	c.5967T>G	c.(5965-5967)ggT>ggG	p.G1989G		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1989	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGGAGGTCCGACCCCTAGCAT	0.443																																						dbGAP											0													109.0	106.0	107.0					6																	100964164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5967T>G	6.37:g.100964164A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G1989	ENST00000369162.2	37	c.5967	CCDS5046.1	6																																																																																			ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000112249		0.443	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	148	0.00	0	A	NM_006828		100964164	100964164	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	silent	101	20.77	27	SNP	0.105	C
ASGR2	433	genome.wustl.edu	37	17	7010437	7010437	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7010437A>C	ENST00000380952.2	-	7	809	c.545T>G	c.(544-546)gTg>gGg	p.V182G	ASGR2_ENST00000254850.7_Missense_Mutation_p.V158G|ASGR2_ENST00000355035.5_Missense_Mutation_p.V182G|ASGR2_ENST00000446679.2_Missense_Mutation_p.V163G	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	182	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTGGTGCTCCACCCAGTTGAC	0.652																																						dbGAP											0													87.0	81.0	83.0					17																	7010437		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.545T>G	17.37:g.7010437A>C	ENSP00000370339:p.Val182Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.V182G	ENST00000380952.2	37	c.545	CCDS32544.1	17	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675733	0.29783	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.45	0.813	0.18749	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	1.825410	0.03166	N	0.170097	T	0.32912	0.0845	M	0.67625	2.065	0.18873	N	0.999985	D;D;D;D;D	0.59767	0.986;0.985;0.969;0.982;0.969	P;P;P;P;P	0.54856	0.661;0.744;0.478;0.762;0.583	T	0.11518	-1.0584	10	0.25106	T	0.35	.	3.1681	0.06542	0.5224:0.0:0.1047:0.3729	.	158;182;177;163;182	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	G	182;158;182;163	ENSP00000347140:V182G;ENSP00000254850:V158G;ENSP00000370339:V182G;ENSP00000405844:V163G	ENSP00000254850:V158G	V	-	2	0	ASGR2	6951161	0.007000	0.16637	0.265000	0.24526	0.165000	0.22458	1.142000	0.31540	0.161000	0.19458	-0.323000	0.08544	GTG	ASGR2	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII	ENSG00000161944		0.652	ASGR2-201	KNOWN	basic|CCDS	protein_coding	ASGR2	HGNC	protein_coding	OTTHUMT00000220003.1	173	0.57	1	A	NM_080914		7010437	7010437	-1	no_errors	ENST00000355035	ensembl	human	known	69_37n	missense	159	15.87	30	SNP	0.052	C
ASIP	434	genome.wustl.edu	37	20	32848255	32848255	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:32848255A>C	ENST00000568305.1	+	2	277	c.75A>C	c.(73-75)ccA>ccC	p.P25P	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.P25P			P42127	ASIP_HUMAN	agouti signaling protein	25					adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						GCCACCTGCCACCTGAGGAGA	0.567																																						dbGAP											0													142.0	130.0	134.0					20																	32848255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"""nonagouti homolog (mouse)"""	600201	"""agouti (mouse)-signaling protein"", ""agouti signaling protein, nonagouti homolog (mouse)"""	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.75A>C	20.37:g.32848255A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXL2	Silent	SNP	pfam_Agouti,superfamily_Agouti,smart_Agouti,pfscan_Agouti	p.P25	ENST00000568305.1	37	c.75	CCDS13232.1	20																																																																																			ASIP	-	pfam_Agouti,smart_Agouti	ENSG00000101440		0.567	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ASIP	HGNC	protein_coding	OTTHUMT00000430541.1	124	0.00	0	A			32848255	32848255	+1	no_errors	ENST00000374954	ensembl	human	known	69_37n	silent	157	14.67	27	SNP	0.849	C
ASNSD1	54529	genome.wustl.edu	37	2	190531042	190531042	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:190531042A>C	ENST00000260952.4	+	4	597	c.184A>C	c.(184-186)Acc>Ccc	p.T62P	ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607690.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	62	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTTTTGACTACCCAGCCTGT	0.393																																						dbGAP											0													136.0	140.0	139.0					2																	190531042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.184A>C	2.37:g.190531042A>C	ENSP00000260952:p.Thr62Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	pfam_Asn_synthase	p.T62P	ENST00000260952.4	37	c.184	CCDS2300.1	2	.	.	.	.	.	.	.	.	.	.	A	1.069	-0.670476	0.03403	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	T;T	0.29397	1.58;1.57	5.86	-1.88	0.07713	Glutamine amidotransferase, type II (1);	0.403506	0.32015	N	0.006718	T	0.06917	0.0176	N	0.00742	-1.23	0.21897	N	0.999483	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.09590	T	0.72	-16.922	9.768	0.40572	0.2195:0.5346:0.2459:0.0	.	62	Q9NWL6	ASND1_HUMAN	P	62	ENSP00000260952:T62P;ENSP00000406790:T62P	ENSP00000260952:T62P	T	+	1	0	ASNSD1	190239287	0.887000	0.30362	0.970000	0.41538	0.749000	0.42624	1.173000	0.31920	-0.072000	0.12864	-1.082000	0.02213	ACC	ASNSD1	-	NULL	ENSG00000138381		0.393	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	203	0.49	1	A	NM_019048		190531042	190531042	+1	no_errors	ENST00000260952	ensembl	human	known	69_37n	missense	145	15.20	26	SNP	0.997	C
ASTN1	460	genome.wustl.edu	37	1	176845720	176845720	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:176845720A>C	ENST00000367654.3	-	21	3651	c.3440T>G	c.(3439-3441)gTg>gGg	p.V1147G	ASTN1_ENST00000367657.3_Missense_Mutation_p.V1139G|ASTN1_ENST00000424564.2_Missense_Mutation_p.V1139G|ASTN1_ENST00000361833.2_Missense_Mutation_p.V1139G	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1147					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTCACGATCACGTCGCTTGG	0.582																																						dbGAP											0													141.0	107.0	118.0					1																	176845720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3440T>G	1.37:g.176845720A>C	ENSP00000356626:p.Val1147Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.V1147G	ENST00000367654.3	37	c.3440		1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117346	0.77323	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70016	0.967;0.967	T	0.62959	-0.6743	10	0.87932	D	0	-16.2142	14.9841	0.71332	1.0:0.0:0.0:0.0	.	1139;1139	O14525-2;B1AJS1	.;.	G	1139;1139;1147;1139;1139	ENSP00000356629:V1139G;ENSP00000354536:V1139G;ENSP00000356626:V1147G;ENSP00000395041:V1139G	ENSP00000354536:V1139G	V	-	2	0	ASTN1	175112343	1.000000	0.71417	0.987000	0.45799	0.505000	0.33919	8.935000	0.92923	2.005000	0.58758	0.533000	0.62120	GTG	ASTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152092		0.582	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		95	0.00	0	A	NM_004319		176845720	176845720	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	107	14.29	18	SNP	1.000	C
ASTN2	23245	genome.wustl.edu	37	9	119188359	119188359	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:119188359T>G	ENST00000313400.4	-	23	3891	c.3791A>C	c.(3790-3792)cAc>cCc	p.H1264P	ASTN2_ENST00000361209.2_Missense_Mutation_p.H1213P|ASTN2_ENST00000361477.3_Missense_Mutation_p.H316P|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1260P|ASTN2_ENST00000288520.5_Missense_Mutation_p.H365P|ASTN2_ENST00000341734.4_Missense_Mutation_p.H316P			O75129	ASTN2_HUMAN	astrotactin 2	1264					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGAATCAGGTGGGCCTTCCT	0.498																																						dbGAP											0													36.0	36.0	36.0					9																	119188359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3791A>C	9.37:g.119188359T>G	ENSP00000314038:p.His1264Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.H1264P	ENST00000313400.4	37	c.3791		9	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505608	0.44558	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.14391	2.94;2.94;2.51;2.52;2.75;2.94;2.52	5.86	5.86	0.93980	.	0.097175	0.64402	D	0.000001	T	0.15522	0.0374	N	0.14661	0.345	0.50813	D	0.999899	P;P;P;P;D;P;P	0.60575	0.764;0.764;0.893;0.828;0.988;0.764;0.764	B;B;P;B;P;B;P	0.52646	0.26;0.381;0.578;0.374;0.705;0.381;0.481	T	0.07790	-1.0754	10	0.36615	T	0.2	-28.3729	16.248	0.82460	0.0:0.0:0.0:1.0	.	316;316;1213;1264;1260;316;365	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	P	1264;1260;365;316;987;1213;316	ENSP00000314038:H1264P;ENSP00000363108:H1260P;ENSP00000288520:H365P;ENSP00000339925:H316P;ENSP00000363098:H987P;ENSP00000354504:H1213P;ENSP00000355116:H316P	ENSP00000288520:H365P	H	-	2	0	ASTN2	118228180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.446000	0.66600	2.228000	0.72767	0.533000	0.62120	CAC	ASTN2	-	NULL	ENSG00000148219		0.498	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		42	0.00	0	T	NM_014010		119188359	119188359	-1	no_errors	ENST00000313400	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	G
ASTN2	23245	genome.wustl.edu	37	9	119380731	119380731	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:119380731A>C	ENST00000313400.4	-	19	3327	c.3227T>G	c.(3226-3228)gTg>gGg	p.V1076G	ASTN2_ENST00000358637.4_Missense_Mutation_p.V128G|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1025G|ASTN2_ENST00000361477.3_Missense_Mutation_p.V128G|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1072G|ASTN2_ENST00000288520.5_Missense_Mutation_p.V177G|ASTN2_ENST00000341734.4_Missense_Mutation_p.V128G			O75129	ASTN2_HUMAN	astrotactin 2	1076	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGAGGGCTCCACTGTTGGGGA	0.527																																						dbGAP											0													87.0	78.0	81.0					9																	119380731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3227T>G	9.37:g.119380731A>C	ENSP00000314038:p.Val1076Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.V1076G	ENST00000313400.4	37	c.3227		9	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529288	0.44969	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477;ENST00000358637	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.32	5.32	0.75619	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.146450	0.47093	D	0.000259	T	0.22627	0.0546	N	0.08118	0	0.80722	D	1	B;B;B;P;P;P;B;P	0.42827	0.378;0.318;0.396;0.545;0.791;0.776;0.318;0.718	B;B;B;B;B;P;B;B	0.46362	0.11;0.069;0.068;0.131;0.255;0.514;0.069;0.26	T	0.09443	-1.0674	9	.	.	.	-13.714	15.2877	0.73843	1.0:0.0:0.0:0.0	.	128;128;799;1025;1076;1072;128;177	B7ZKP4;B7ZKP5;A2A2T8;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;.;ASTN2_HUMAN;.;.;.	G	1076;1072;177;128;799;1025;128;128	ENSP00000314038:V1076G;ENSP00000363108:V1072G;ENSP00000288520:V177G;ENSP00000339925:V128G;ENSP00000363098:V799G;ENSP00000354504:V1025G;ENSP00000355116:V128G;ENSP00000351460:V128G	.	V	-	2	0	ASTN2	118420552	1.000000	0.71417	0.895000	0.35142	0.823000	0.46562	8.691000	0.91279	2.001000	0.58596	0.533000	0.62120	GTG	ASTN2	-	superfamily_Fibronectin_type3	ENSG00000148219		0.527	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		230	0.00	0	A	NM_014010		119380731	119380731	-1	no_errors	ENST00000313400	ensembl	human	known	69_37n	missense	212	12.76	31	SNP	0.998	C
ASXL2	55252	genome.wustl.edu	37	2	25966553	25966553	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:25966553A>G	ENST00000435504.4	-	13	2946	c.2653T>C	c.(2653-2655)Tcc>Ccc	p.S885P	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S857P|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	885					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTAAAGGGGAGGGAGTTACA	0.493																																						dbGAP											0													93.0	96.0	95.0					2																	25966553		2005	4169	6174	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2653T>C	2.37:g.25966553A>G	ENSP00000391447:p.Ser885Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S885P	ENST00000435504.4	37	c.2653		2	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858454	0.32791	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.25414	1.8;1.8	5.02	-0.951	0.10369	.	0.583553	0.16954	N	0.192776	T	0.19927	0.0479	M	0.62723	1.935	0.31210	N	0.698744	P	0.49961	0.93	B	0.41571	0.36	T	0.27606	-1.0069	10	0.87932	D	0	-3.0365	1.5533	0.02579	0.3644:0.2826:0.0793:0.2737	.	885	Q76L83	ASXL2_HUMAN	P	885;857	ENSP00000391447:S885P;ENSP00000337250:S857P	ENSP00000337250:S857P	S	-	1	0	ASXL2	25820057	0.005000	0.15991	0.135000	0.22099	0.980000	0.70556	-0.061000	0.11693	-0.064000	0.13043	0.460000	0.39030	TCC	ASXL2	-	NULL	ENSG00000143970		0.493	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	189	0.00	0	A	NM_018263		25966553	25966553	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	232	13.11	35	SNP	0.122	G
ASXL3	80816	genome.wustl.edu	37	18	31324041	31324041	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:31324041A>C	ENST00000269197.5	+	12	4229	c.4229A>C	c.(4228-4230)cAc>cCc	p.H1410P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGGTTGCACACCCGACCGTC	0.498											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													132.0	134.0	133.0					18																	31324041		1984	4161	6145	-	-	-	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4229A>C	18.37:g.31324041A>C	ENSP00000269197:p.His1410Pro	Somatic	823	WXS	Illumina GAIIx	Phase_IV	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.H1410P	ENST00000269197.5	37	c.4229	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	5.896	0.349345	0.11182	.	.	ENSG00000141431	ENST00000269197	T	0.13778	2.56	6.17	4.34	0.51931	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.27068	0.167	B	0.22601	0.04	T	0.32587	-0.9901	9	0.41790	T	0.15	.	9.3424	0.38087	0.1672:0.0:0.8328:0.0	.	1410	Q9C0F0	ASXL3_HUMAN	P	1410	ENSP00000269197:H1410P	ENSP00000269197:H1410P	H	+	2	0	ASXL3	29578039	0.974000	0.33945	0.228000	0.23943	0.263000	0.26337	4.600000	0.61083	0.874000	0.35823	0.533000	0.62120	CAC	ASXL3	-	NULL	ENSG00000141431		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	192	0.51	1	A			31324041	31324041	+1	no_errors	ENST00000269197	ensembl	human	known	69_37n	missense	177	15.64	33	SNP	0.170	C
ATF7IP	55729	genome.wustl.edu	37	12	14613535	14613535	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:14613535A>C	ENST00000540793.1	+	8	2420	c.2265A>C	c.(2263-2265)gcA>gcC	p.A755A	ATF7IP_ENST00000536444.1_Silent_p.A754A|ATF7IP_ENST00000543189.1_Silent_p.A754A|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Silent_p.A763A|ATF7IP_ENST00000261168.4_Silent_p.A755A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	755	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTCTTCCTGCACCCAATACAG	0.483																																						dbGAP											0													139.0	132.0	134.0					12																	14613535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2265A>C	12.37:g.14613535A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A755	ENST00000540793.1	37	c.2265	CCDS8663.1	12																																																																																			ATF7IP	-	NULL	ENSG00000171681		0.483	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	140	0.00	0	A	NM_018179		14613535	14613535	+1	no_errors	ENST00000261168	ensembl	human	known	69_37n	silent	140	13.50	22	SNP	1.000	C
ATG14	22863	genome.wustl.edu	37	14	55836403	55836403	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:55836403A>C	ENST00000247178.5	-	10	1448	c.1413T>G	c.(1411-1413)ggT>ggG	p.G471G		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	471	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AGATCATCCCACCTGCACTGC	0.552																																						dbGAP											0													128.0	120.0	123.0					14																	55836403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1413T>G	14.37:g.55836403A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	pfam_UV_resistance/autophagy_Atg14	p.G471	ENST00000247178.5	37	c.1413	CCDS32087.1	14																																																																																			ATG14	-	NULL	ENSG00000126775		0.552	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG14	HGNC	protein_coding	OTTHUMT00000416992.1	167	0.60	1	A	NM_014924		55836403	55836403	-1	no_errors	ENST00000247178	ensembl	human	known	69_37n	silent	155	15.68	29	SNP	0.006	C
ATG2B	55102	genome.wustl.edu	37	14	96800038	96800038	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:96800038T>G	ENST00000359933.4	-	8	2087	c.1194A>C	c.(1192-1194)acA>acC	p.T398T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	398					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTAGAAGGTGTACGAGCTG	0.368																																						dbGAP											0													89.0	82.0	84.0					14																	96800038		1836	4095	5931	-	-	-	SO:0001819	synonymous_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1194A>C	14.37:g.96800038T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	pfam_Autophagy-rel_C	p.T398	ENST00000359933.4	37	c.1194	CCDS9944.2	14																																																																																			ATG2B	-	NULL	ENSG00000066739		0.368	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	122	0.00	0	T	NM_018036		96800038	96800038	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	silent	63	20.25	16	SNP	0.988	G
ATM	472	genome.wustl.edu	37	11	108204634	108204634	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:108204634A>C	ENST00000452508.2	+	55	8138	c.7949A>C	c.(7948-7950)gAc>gCc	p.D2650A	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2650A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2650					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATTCCAGCAGACCAGCCAATT	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													153.0	170.0	165.0					11																	108204634		2200	4298	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7949A>C	11.37:g.108204634A>C	ENSP00000388058:p.Asp2650Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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.D2650A	ENST00000452508.2	37	c.7949	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	17.23	3.338049	0.60963	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81499	-1.5;-1.5	5.47	5.47	0.80525	Protein kinase-like domain (1);Armadillo-type fold (1);	0.086640	0.85682	D	0.000000	T	0.78355	0.4270	M	0.73962	2.25	0.80722	D	1	B	0.28713	0.22	B	0.26693	0.072	T	0.74685	-0.3582	10	0.10377	T	0.69	.	15.5395	0.76031	1.0:0.0:0.0:0.0	.	2650	Q13315	ATM_HUMAN	A	2650	ENSP00000278616:D2650A;ENSP00000388058:D2650A	ENSP00000278616:D2650A	D	+	2	0	ATM	107709844	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	6.600000	0.74132	2.089000	0.63090	0.533000	0.62120	GAC	ATM	-	superfamily_Kinase-like_dom,superfamily_ARM-type_fold	ENSG00000149311		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	350	0.00	0	A	NM_000051		108204634	108204634	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	261	14.43	44	SNP	1.000	C
ATP10A	57194	genome.wustl.edu	37	15	25924744	25924744	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:25924744A>C	ENST00000356865.6	-	21	4355	c.4244T>G	c.(4243-4245)gTg>gGg	p.V1415G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1415					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCAGCTCTCACCTTGGACTC	0.647																																						dbGAP											0													43.0	39.0	41.0					15																	25924744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4244T>G	15.37:g.25924744A>C	ENSP00000349325:p.Val1415Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V1415G	ENST00000356865.6	37	c.4244	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	A	9.629	1.135934	0.21123	.	.	ENSG00000206190	ENST00000356865	T	0.10860	2.83	5.12	-6.54	0.01860	.	1.336020	0.05171	N	0.499498	T	0.05456	0.0144	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.26408	T	0.33	-3.0653	7.3483	0.26676	0.205:0.5304:0.1964:0.0682	.	1415	O60312	AT10A_HUMAN	G	1415	ENSP00000349325:V1415G	ENSP00000349325:V1415G	V	-	2	0	ATP10A	23475837	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.657000	0.05335	-1.009000	0.03400	0.533000	0.62120	GTG	ATP10A	-	NULL	ENSG00000206190		0.647	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	36	0.00	0	A	NM_024490		25924744	25924744	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	C
ATP10B	23120	genome.wustl.edu	37	5	160061397	160061397	+	Missense_Mutation	SNP	T	T	G	rs577500017		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:160061397T>G	ENST00000327245.5	-	12	2191	c.1345A>C	c.(1345-1347)Acc>Ccc	p.T449P	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	449					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATGATGGTGCAACGTCGG	0.502																																						dbGAP											0													130.0	130.0	130.0					5																	160061397		1958	4147	6105	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1345A>C	5.37:g.160061397T>G	ENSP00000313600:p.Thr449Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T449P	ENST00000327245.5	37	c.1345	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850217	0.71719	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.64085	-0.08;-0.08	5.53	1.61	0.23674	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.186588	0.48286	D	0.000192	T	0.73953	0.3653	M	0.78049	2.395	0.45914	D	0.998759	D;D;D;B;D	0.89917	1.0;0.997;1.0;0.032;1.0	D;D;D;B;D	0.77557	0.979;0.976;0.986;0.067;0.99	T	0.69982	-0.4997	9	.	.	.	.	7.1967	0.25858	0.2544:0.0:0.1332:0.6124	.	493;449;421;57;449	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	P	449;57	ENSP00000313600:T449P;ENSP00000431081:T57P	.	T	-	1	0	ATP10B	159993975	1.000000	0.71417	0.759000	0.31340	0.943000	0.58893	2.039000	0.41193	0.035000	0.15519	0.533000	0.62120	ACC	ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000118322		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	209	0.48	1	T	NM_025153		160061397	160061397	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	225	13.46	35	SNP	0.997	G
ATP1A2	477	genome.wustl.edu	37	1	160097384	160097384	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:160097384T>G	ENST00000361216.3	+	8	880	c.791T>G	c.(790-792)gTg>gGg	p.V264G	ATP1A2_ENST00000392233.3_Missense_Mutation_p.V264G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	264					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACCGGACGGTGATGGGCCGC	0.607																																						dbGAP											0													94.0	82.0	86.0					1																	160097384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.791T>G	1.37:g.160097384T>G	ENSP00000354490:p.Val264Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V264G	ENST00000361216.3	37	c.791	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361296	0.82353	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.90620	-2.7;-2.7	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.81914	0.966;0.995	D	0.96644	0.9476	10	0.87932	D	0	.	13.7762	0.63055	0.0:0.0:0.0:1.0	.	109;264	B4DHD7;P50993	.;AT1A2_HUMAN	G	109;264;264	ENSP00000354490:V264G;ENSP00000376066:V264G	ENSP00000354490:V264G	V	+	2	0	ATP1A2	158364008	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	7.970000	0.88000	1.952000	0.56665	0.459000	0.35465	GTG	ATP1A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000018625		0.607	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	93	0.00	0	T	NM_000702		160097384	160097384	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	missense	165	17.82	36	SNP	1.000	G
ATP2B1	490	genome.wustl.edu	37	12	89984840	89984840	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:89984840T>G	ENST00000428670.3	-	21	4040	c.3584A>C	c.(3583-3585)cAc>cCc	p.H1195P	AC068641.1_ENST00000585304.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.H1195P|ATP2B1_ENST00000359142.3_3'UTR|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000348959.3_Missense_Mutation_p.H1159P|ATP2B1_ENST00000393164.2_Missense_Mutation_p.H938P			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1233					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATTGTAAGGTGAATTCCACT	0.423																																						dbGAP											0													233.0	207.0	216.0					12																	89984840		2203	4299	6502	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3584A>C	12.37:g.89984840T>G	ENSP00000392043:p.His1195Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.H1195P	ENST00000428670.3	37	c.3584	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395011	0.25205	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	D;D;D;D	0.94280	-3.24;-3.23;-3.24;-3.39	5.53	5.53	0.82687	.	0.153133	0.64402	D	0.000015	D	0.91161	0.7216	L	0.50333	1.59	0.50171	D	0.999859	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.002	D	0.87787	0.2616	10	0.46703	T	0.11	-0.5039	15.6593	0.77169	0.0:0.0:0.0:1.0	.	1195;1159	P20020-3;P20020-6	.;.	P	1195;1159;1195;938	ENSP00000261173:H1195P;ENSP00000343599:H1159P;ENSP00000392043:H1195P;ENSP00000376869:H938P	ENSP00000261173:H1195P	H	-	2	0	ATP2B1	88508971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.990000	0.63876	2.095000	0.63458	0.482000	0.46254	CAC	ATP2B1	-	NULL	ENSG00000070961		0.423	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	229	0.00	0	T	NM_001682		89984840	89984840	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	177	13.24	27	SNP	1.000	G
ATP2B1	490	genome.wustl.edu	37	12	89992457	89992457	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:89992457A>G	ENST00000359142.3	-	20	3639	c.3415T>C	c.(3415-3417)Tcc>Ccc	p.S1139P	ATP2B1_ENST00000261173.2_Intron|ATP2B1_ENST00000428670.3_Intron|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000393164.2_Intron	NM_001001323.1	NP_001001323.1	P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1139					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTGGCGATGGAGGGTTGCCGC	0.478																																						dbGAP											0													195.0	195.0	195.0					12																	89992457		1986	4165	6151	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000359142.3:c.3415T>C	12.37:g.89992457A>G	ENSP00000352054:p.Ser1139Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATP_Ca_trans_C,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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.S1139P	ENST00000359142.3	37	c.3415	CCDS41817.1	12	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422096	0.83559	.	.	ENSG00000070961	ENST00000359142	D	0.82984	-1.67	5.77	5.77	0.91146	.	.	.	.	.	D	0.84561	0.5499	L	0.51914	1.62	0.80722	D	1	P	0.39022	0.655	P	0.46629	0.522	D	0.85980	0.1482	9	0.87932	D	0	.	16.0885	0.81076	1.0:0.0:0.0:0.0	.	1139	P20020-2	.	P	1139	ENSP00000352054:S1139P	ENSP00000352054:S1139P	S	-	1	0	ATP2B1	88516588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.327000	0.79147	2.192000	0.70111	0.533000	0.62120	TCC	ATP2B1	-	pfam_ATP_Ca_trans_C	ENSG00000070961		0.478	ATP2B1-002	KNOWN	basic|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406652.1	303	0.65	2	A	NM_001682		89992457	89992457	-1	no_errors	ENST00000359142	ensembl	human	known	69_37n	missense	246	16.78	50	SNP	1.000	G
ATP2B1	490	genome.wustl.edu	37	12	90005090	90005090	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:90005090A>C	ENST00000428670.3	-	13	2583	c.2127T>G	c.(2125-2127)ggT>ggG	p.G709G	ATP2B1_ENST00000261173.2_Silent_p.G709G|ATP2B1_ENST00000359142.3_Silent_p.G709G|ATP2B1_ENST00000348959.3_Silent_p.G709G|ATP2B1_ENST00000393164.2_Silent_p.G452G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	709					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATATTATCACCAGTGACCA	0.368																																						dbGAP											0													178.0	188.0	184.0					12																	90005090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2127T>G	12.37:g.90005090A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G709	ENST00000428670.3	37	c.2127	CCDS9035.1	12																																																																																			ATP2B1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000070961		0.368	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	606	0.49	3	A	NM_001682		90005090	90005090	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	silent	437	10.82	53	SNP	1.000	C
ATP2B1	490	genome.wustl.edu	37	12	90028994	90028994	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:90028994A>C	ENST00000428670.3	-	4	897	c.441T>G	c.(439-441)ggT>ggG	p.G147G	ATP2B1_ENST00000261173.2_Silent_p.G147G|ATP2B1_ENST00000359142.3_Silent_p.G147G|ATP2B1_ENST00000348959.3_Silent_p.G147G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	147					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTTCACCTTCACCTTCTTCCT	0.383																																						dbGAP											0													91.0	79.0	83.0					12																	90028994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.441T>G	12.37:g.90028994A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G147	ENST00000428670.3	37	c.441	CCDS9035.1	12																																																																																			ATP2B1	-	NULL	ENSG00000070961		0.383	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	172	0.00	0	A	NM_001682		90028994	90028994	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	silent	157	12.64	23	SNP	0.928	C
ATP2C2	9914	genome.wustl.edu	37	16	84459364	84459364	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:84459364T>G	ENST00000262429.4	+	11	1032	c.943T>G	c.(943-945)Tcg>Gcg	p.S315A	ATP2C2_ENST00000416219.2_Missense_Mutation_p.S315A|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	315					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATTGGCTGGTCGCAAGGGAA	0.532																																						dbGAP											0													267.0	264.0	265.0					16																	84459364		2016	4177	6193	-	-	-	SO:0001583	missense	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.943T>G	16.37:g.84459364T>G	ENSP00000262429:p.Ser315Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,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_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.S315A	ENST00000262429.4	37	c.943	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236746	0.22711	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.90197	-2.63;-2.63	5.0	-0.586	0.11694	ATPase, P-type, ATPase-associated domain (1);	0.118754	0.35739	N	0.003013	T	0.71676	0.3368	N	0.02181	-0.65	0.09310	N	0.999991	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.63998	-0.6510	10	0.72032	D	0.01	.	5.7598	0.18192	0.0:0.5036:0.1998:0.2966	.	315;164;332;315	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	A	315;315;164	ENSP00000397925:S315A;ENSP00000262429:S315A	ENSP00000262429:S315A	S	+	1	0	ATP2C2	83016865	0.979000	0.34478	0.980000	0.43619	0.010000	0.07245	0.130000	0.15850	-0.392000	0.07751	-0.290000	0.09829	TCG	ATP2C2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000064270		0.532	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	189	0.52	1	T	NM_014861		84459364	84459364	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	missense	114	20.69	30	SNP	1.000	G
ATP4A	495	genome.wustl.edu	37	19	36050957	36050957	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:36050957A>C	ENST00000262623.3	-	7	834	c.806T>G	c.(805-807)gTg>gGg	p.V269G		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	269					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGTGTTCACCACCAGGCCCTG	0.642																																						dbGAP											0													50.0	42.0	45.0					19																	36050957		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.806T>G	19.37:g.36050957A>C	ENSP00000262623:p.Val269Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V269G	ENST00000262623.3	37	c.806	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207358	0.79240	.	.	ENSG00000105675	ENST00000262623	D	0.95788	-3.81	4.09	4.09	0.47781	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.354519	0.22221	N	0.062956	D	0.98267	0.9426	H	0.98918	4.37	0.80722	D	1	P	0.44578	0.838	P	0.55713	0.782	D	0.99180	1.0867	10	0.87932	D	0	.	11.3369	0.49509	1.0:0.0:0.0:0.0	.	269	P20648	ATP4A_HUMAN	G	269	ENSP00000262623:V269G	ENSP00000262623:V269G	V	-	2	0	ATP4A	40742797	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.086000	0.94088	1.851000	0.53745	0.459000	0.35465	GTG	ATP4A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105675		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	121	0.00	0	A	NM_000704		36050957	36050957	-1	no_errors	ENST00000262623	ensembl	human	known	69_37n	missense	69	22.22	20	SNP	1.000	C
ATP5G2	517	genome.wustl.edu	37	12	54062992	54062992	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:54062992A>C	ENST00000549164.1	-	4	438	c.251T>G	c.(250-252)gTg>gGg	p.V84G	ATP5G2_ENST00000394349.3_Missense_Mutation_p.V141G|ATP5G2_ENST00000602871.1_Missense_Mutation_p.V84G|ATP5G2_ENST00000550241.1_5'UTR|ATP5G2_ENST00000338662.5_Missense_Mutation_p.V100G			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	84					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						AGAACCAGCCACCCCAACTGT	0.532																																						dbGAP											0													71.0	69.0	70.0					12																	54062992		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.251T>G	12.37:g.54062992A>C	ENSP00000447317:p.Val84Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQQ6	Missense_Mutation	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu	p.V141G	ENST00000549164.1	37	c.422		12	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694098	0.68386	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.38401	1.14;1.14;1.14	5.26	5.26	0.73747	ATPase, F0/V0 complex, subunit C (3);	0.056363	0.64402	D	0.000001	T	0.18882	0.0453	N	0.03881	-0.34	0.80722	D	1	B;B;B	0.31611	0.331;0.284;0.14	B;B;B	0.27887	0.075;0.076;0.084	T	0.15607	-1.0431	10	0.87932	D	0	-8.1162	14.5892	0.68351	1.0:0.0:0.0:0.0	.	84;100;141	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	G	141;84;100	ENSP00000377878:V141G;ENSP00000447317:V84G;ENSP00000340315:V100G	ENSP00000340315:V100G	V	-	2	0	ATP5G2	52349259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.988000	0.93501	2.343000	0.79666	0.533000	0.62120	GTG	ATP5G2	-	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu	ENSG00000135390		0.532	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	ATP5G2	HGNC	protein_coding	OTTHUMT00000407403.1	100	0.99	1	A	NM_005176		54062992	54062992	-1	no_errors	ENST00000394349	ensembl	human	known	69_37n	missense	112	20.98	30	SNP	1.000	C
ATP6V0A1	535	genome.wustl.edu	37	17	40673251	40673251	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:40673251A>C	ENST00000343619.4	+	0	2750				ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000585525.1_3'UTR|ATP6V0A1_ENST00000393829.2_3'UTR|ATP6V0A1_ENST00000264649.6_3'UTR|ATP6V0A1_ENST00000537728.1_3'UTR|ATP6V0A1_ENST00000546249.1_3'UTR|ATP6V0A1_ENST00000544137.1_3'UTR	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CATTCGTGTCACCCTGTCTGT	0.542																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.*113A>C	17.37:g.40673251A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3B7|Q8N5G7|Q9NSX0	RNA	SNP	-	NULL	ENST00000343619.4	37	NULL	CCDS45684.1	17																																																																																			ATP6V0A1	-	-	ENSG00000033627		0.542	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	85	0.00	0	A	NM_001130020		40673251	40673251	+1	no_errors	ENST00000587299	ensembl	human	known	69_37n	rna	56	29.11	23	SNP	0.000	C
ATP7A	538	genome.wustl.edu	37	X	77298177	77298177	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:77298177T>G	ENST00000341514.6	+	20	4051	c.3896T>G	c.(3895-3897)gTg>gGg	p.V1299G	ATP7A_ENST00000350425.4_Missense_Mutation_p.V302G|ATP7A_ENST00000343533.5_Missense_Mutation_p.V1221G	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1299					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTAGCAATGGTGGGAGATGGA	0.473																																						dbGAP											0													217.0	180.0	192.0					X																	77298177		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3896T>G	X.37:g.77298177T>G	ENSP00000345728:p.Val1299Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.V1299G	ENST00000341514.6	37	c.3896	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293257	0.80914	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.98012	-4.66;-4.66;-4.66	4.92	4.92	0.64577	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.071696	0.56097	D	0.000034	D	0.99143	0.9704	H	0.97240	3.965	0.80722	D	1	D	0.59767	0.986	D	0.70227	0.968	D	0.98953	1.0795	10	0.87932	D	0	-7.8324	13.6983	0.62593	0.0:0.0:0.0:1.0	.	1299	Q04656	ATP7A_HUMAN	G	1221;302;1299	ENSP00000343026:V1221G;ENSP00000343678:V302G;ENSP00000345728:V1299G	ENSP00000345728:V1299G	V	+	2	0	ATP7A	77184833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.921000	0.87530	1.608000	0.50180	0.486000	0.48141	GTG	ATP7A	-	pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000165240		0.473	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	296	0.00	0	T	NM_000052		77298177	77298177	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	187	17.98	41	SNP	1.000	G
ATP7B	540	genome.wustl.edu	37	13	52509062	52509062	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:52509062A>C	ENST00000242839.4	-	21	4384	c.4228T>G	c.(4228-4230)Tgg>Ggg	p.W1410G	ATP7B_ENST00000448424.2_Missense_Mutation_p.W1332G|ATP7B_ENST00000400366.3_Missense_Mutation_p.W1299G|ATP7B_ENST00000400370.3_Missense_Mutation_p.W980G|ATP7B_ENST00000344297.5_Missense_Mutation_p.W1203G|ATP7B_ENST00000418097.2_Missense_Mutation_p.W1345G|ATP7B_ENST00000417240.2_Missense_Mutation_p.W621G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1410					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAGTCCCGCCACCTGTCATCC	0.622									Wilson disease																													dbGAP											0													83.0	90.0	88.0					13																	52509062		2163	4269	6432	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4228T>G	13.37:g.52509062A>C	ENSP00000242839:p.Trp1410Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.W1410G	ENST00000242839.4	37	c.4228	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	G	1.747	-0.490227	0.04322	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.93	4.22	0.49857	.	0.342205	0.29908	N	0.010892	T	0.42017	0.1184	N	0.11427	0.14	0.80722	D	1	B;B;B;B;B;B;B;B	0.14805	0.008;0.0;0.011;0.0;0.011;0.007;0.011;0.0	B;B;B;B;B;B;B;B	0.17722	0.015;0.0;0.019;0.0;0.019;0.001;0.019;0.0	T	0.12116	-1.0560	10	0.27082	T	0.32	-3.7994	4.8361	0.13466	0.288:0.0:0.5435:0.1685	.	1332;1362;1345;621;980;1299;1203;1410	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	G	1410;1299;1203;621;1332;980;1345	ENSP00000242839:W1410G;ENSP00000383217:W1299G;ENSP00000342559:W1203G;ENSP00000390360:W621G;ENSP00000416738:W1332G;ENSP00000383221:W980G;ENSP00000393343:W1345G	ENSP00000242839:W1410G	W	-	1	0	ATP7B	51407063	0.974000	0.33945	0.316000	0.25252	0.001000	0.01503	2.990000	0.49401	0.436000	0.26393	-0.726000	0.03593	TGG	ATP7B	-	NULL	ENSG00000123191		0.622	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	60	0.00	0	A	NM_000053		52509062	52509062	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	0.953	C
ATP8B1	5205	genome.wustl.edu	37	18	55319782	55319782	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:55319782T>G	ENST00000283684.4	-	24	3194	c.3195A>C	c.(3193-3195)gcA>gcC	p.A1065A	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.A1065A|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1065					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AGTCGGAAGGTGCCTCTCCAT	0.473																																						dbGAP											0													134.0	120.0	125.0					18																	55319782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3195A>C	18.37:g.55319782T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTP8	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A1065	ENST00000283684.4	37	c.3195	CCDS11965.1	18																																																																																			ATP8B1	-	NULL	ENSG00000081923		0.473	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	138	0.00	0	T	NM_005603		55319782	55319782	-1	no_errors	ENST00000283684	ensembl	human	known	69_37n	silent	142	14.97	25	SNP	0.348	G
ATP8B2	57198	genome.wustl.edu	37	1	154309891	154309891	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154309891T>G	ENST00000368489.3	+	12	1004	c.1004T>G	c.(1003-1005)gTg>gGg	p.V335G	ATP8B2_ENST00000341822.2_Missense_Mutation_p.V321G|ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000368487.3_Missense_Mutation_p.V302G	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	321					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCACGAGGTGGGGATGCGT	0.557																																						dbGAP											0													324.0	267.0	286.0					1																	154309891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1004T>G	1.37:g.154309891T>G	ENSP00000357475:p.Val335Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V335G	ENST00000368489.3	37	c.1004	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393648	0.42410	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.88664	-2.41;-0.91;-0.91	5.17	5.17	0.71159	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000001	D	0.89368	0.6695	L	0.57536	1.79	0.58432	D	0.999999	D;P;P	0.57257	0.979;0.534;0.529	D;B;B	0.65140	0.932;0.373;0.283	D	0.89697	0.3902	10	0.49607	T	0.09	.	8.5999	0.33738	0.0:0.0855:0.0:0.9145	.	321;335;302	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	G	302;335;321	ENSP00000357472:V302G;ENSP00000357475:V335G;ENSP00000340448:V321G	ENSP00000340448:V321G	V	+	2	0	ATP8B2	152576515	1.000000	0.71417	0.982000	0.44146	0.818000	0.46254	3.935000	0.56560	2.181000	0.69327	0.459000	0.35465	GTG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000143515		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	100	0.00	0	T	NM_020452		154309891	154309891	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	142	20.56	37	SNP	0.986	G
ATP8B2	57198	genome.wustl.edu	37	1	154317974	154317974	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154317974A>C	ENST00000368489.3	+	23	2746	c.2746A>C	c.(2746-2748)Acc>Ccc	p.T916P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	902					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTGCTTTCACCATGGTCCA	0.488											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													251.0	265.0	260.0					1																	154317974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2746A>C	1.37:g.154317974A>C	ENSP00000357475:p.Thr916Pro	Somatic	1762	WXS	Illumina GAIIx	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T916P	ENST00000368489.3	37	c.2746	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560019	0.86335	.	.	ENSG00000143515	ENST00000368489	T	0.73681	-0.77	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90970	0.4819	10	0.36615	T	0.2	.	14.1418	0.65325	1.0:0.0:0.0:0.0	.	916	P98198-3	.	P	916	ENSP00000357475:T916P	ENSP00000357475:T916P	T	+	1	0	ATP8B2	152584598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.135000	0.94478	2.185000	0.69588	0.533000	0.62120	ACC	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000143515		0.488	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	257	0.00	0	A	NM_020452		154317974	154317974	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	240	11.44	31	SNP	1.000	C
ATP8B4	79895	genome.wustl.edu	37	15	50189596	50189596	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:50189596A>C	ENST00000284509.6	-	23	2731	c.2590T>G	c.(2590-2592)Tgg>Ggg	p.W864G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.W864G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	864						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAATAAGACCACCTTCCATGA	0.408																																						dbGAP											0													174.0	185.0	181.0					15																	50189596		2196	4295	6491	-	-	-	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2590T>G	15.37:g.50189596A>C	ENSP00000284509:p.Trp864Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.W864G	ENST00000284509.6	37	c.2590	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217843	0.79352	.	.	ENSG00000104043	ENST00000284509	T	0.72051	-0.62	5.71	5.71	0.89125	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	H	0.98351	4.21	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.93526	0.6865	10	0.87932	D	0	.	13.9413	0.64057	1.0:0.0:0.0:0.0	.	84;864	B3KVY8;Q8TF62	.;AT8B4_HUMAN	G	864	ENSP00000284509:W864G	ENSP00000284509:W864G	W	-	1	0	ATP8B4	47976888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.473000	0.81007	2.180000	0.69256	0.533000	0.62120	TGG	ATP8B4	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000104043		0.408	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	420	0.47	2	A	NM_024837		50189596	50189596	-1	no_errors	ENST00000284509	ensembl	human	known	69_37n	missense	284	15.18	51	SNP	1.000	C
ATRN	8455	genome.wustl.edu	37	20	3564721	3564721	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:3564721A>C	ENST00000262919.5	+	17	3009	c.2941A>C	c.(2941-2943)Acc>Ccc	p.T981P	ATRN_ENST00000446916.2_Missense_Mutation_p.T981P	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	981	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TACGATGAGCACCTGCCCCCG	0.527																																						dbGAP											0													245.0	202.0	217.0					20																	3564721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2941A>C	20.37:g.3564721A>C	ENSP00000262919:p.Thr981Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.T981P	ENST00000262919.5	37	c.2941	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121618	0.56613	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18657	3.32;2.2	5.64	5.64	0.86602	.	0.312238	0.38111	N	0.001805	T	0.23249	0.0562	L	0.34521	1.04	0.42181	D	0.991688	P;B	0.41159	0.74;0.27	B;B	0.44044	0.439;0.259	T	0.01739	-1.1284	10	0.54805	T	0.06	-15.5469	15.5155	0.75822	1.0:0.0:0.0:0.0	.	981;981	O75882;O75882-2	ATRN_HUMAN;.	P	981;981;907	ENSP00000262919:T981P;ENSP00000416587:T981P	ENSP00000262919:T981P	T	+	1	0	ATRN	3512721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.179000	0.77665	2.137000	0.66172	0.477000	0.44152	ACC	ATRN	-	pfam_Plexin_repeat,smart_Plexin-like	ENSG00000088812		0.527	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	335	0.88	3	A	NM_139321		3564721	3564721	+1	no_errors	ENST00000262919	ensembl	human	known	69_37n	missense	276	12.62	40	SNP	1.000	C
ATXN7	6314	genome.wustl.edu	37	3	63973893	63973893	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:63973893T>C	ENST00000295900.6	+	9	1804	c.1254T>C	c.(1252-1254)ccT>ccC	p.P418P	ATXN7_ENST00000398590.3_Silent_p.P418P|ATXN7_ENST00000484332.1_Silent_p.P273P|ATXN7_ENST00000487717.1_Silent_p.P418P|ATXN7_ENST00000538065.1_Silent_p.P418P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	418	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATCCCGCCCCTCCTAGAACGT	0.532																																						dbGAP											0													110.0	124.0	120.0					3																	63973893		1940	4126	6066	-	-	-	SO:0001819	synonymous_variant	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1254T>C	3.37:g.63973893T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	pfam_SCA7_dom	p.P418	ENST00000295900.6	37	c.1254	CCDS43102.1	3																																																																																			ATXN7	-	NULL	ENSG00000163635		0.532	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	359	0.83	3	T	NM_000333		63973893	63973893	+1	no_errors	ENST00000398590	ensembl	human	known	69_37n	silent	278	10.58	33	SNP	1.000	C
ATXN7	6314	genome.wustl.edu	37	3	63976471	63976471	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:63976471T>G	ENST00000295900.6	+	11	2168	c.1618T>G	c.(1618-1620)Tgg>Ggg	p.W540G	ATXN7_ENST00000398590.3_Missense_Mutation_p.W540G|ATXN7_ENST00000484332.1_Missense_Mutation_p.W395G|ATXN7_ENST00000487717.1_Missense_Mutation_p.W540G|ATXN7_ENST00000538065.1_Missense_Mutation_p.W540G	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	540					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGACTCCAGGTGGAATCGACT	0.517																																						dbGAP											0													146.0	145.0	145.0					3																	63976471		2085	4217	6302	-	-	-	SO:0001583	missense	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1618T>G	3.37:g.63976471T>G	ENSP00000295900:p.Trp540Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	pfam_SCA7_dom	p.W540G	ENST00000295900.6	37	c.1618	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656914	0.88154	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.994;0.998;0.998	T	0.77498	-0.2565	10	0.87932	D	0	-7.8304	15.8413	0.78848	0.0:0.0:0.0:1.0	.	395;540;540	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	G	540;540;540;540;395	ENSP00000381590:W540G;ENSP00000295900:W540G;ENSP00000420234:W540G;ENSP00000439585:W540G;ENSP00000428277:W395G	ENSP00000295900:W540G	W	+	1	0	ATXN7	63951511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.202000	0.70862	0.533000	0.62120	TGG	ATXN7	-	NULL	ENSG00000163635		0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	130	0.00	0	T	NM_000333		63976471	63976471	+1	no_errors	ENST00000398590	ensembl	human	known	69_37n	missense	92	16.36	18	SNP	1.000	G
AUTS2	26053	genome.wustl.edu	37	7	70246695	70246695	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:70246695A>C	ENST00000342771.4	+	15	2420	c.2099A>C	c.(2098-2100)cAc>cCc	p.H700P	AUTS2_ENST00000406775.2_Missense_Mutation_p.H676P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	700										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGAGCCATCCACCACCCCCAT	0.552																																						dbGAP											0													96.0	98.0	97.0					7																	70246695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2099A>C	7.37:g.70246695A>C	ENSP00000344087:p.His700Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.H700P	ENST00000342771.4	37	c.2099	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104401	0.56291	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.28895	1.62;1.59	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	N	0.25789	0.76	0.80722	D	1	D;B;B	0.89917	1.0;0.22;0.22	D;B;B	0.85130	0.997;0.192;0.135	T	0.22417	-1.0217	9	.	.	.	-30.1827	16.3668	0.83335	1.0:0.0:0.0:0.0	.	152;676;700	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	P	676;700	ENSP00000385263:H676P;ENSP00000344087:H700P	.	H	+	2	0	AUTS2	69884631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.896000	0.92521	2.268000	0.75426	0.454000	0.30748	CAC	AUTS2	-	prints_AUTS2	ENSG00000158321		0.552	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	228	0.87	2	A			70246695	70246695	+1	no_errors	ENST00000342771	ensembl	human	known	69_37n	missense	169	16.67	34	SNP	1.000	C
ATXN7L1	222255	genome.wustl.edu	37	7	105516281	105516281	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:105516281T>C	ENST00000419735.3	-	2	272	c.227A>G	c.(226-228)gAg>gGg	p.E76G	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E76G|ATXN7L1_ENST00000478915.1_Intron	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	76										endometrium(1)|large_intestine(4)|lung(5)	10						CCTCATAACCTCCCTGCTTTT	0.378																																						dbGAP											0													339.0	309.0	319.0					7																	105516281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.227A>G	7.37:g.105516281T>C	ENSP00000410759:p.Glu76Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	pfam_SCA7_dom	p.E76G	ENST00000419735.3	37	c.227	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904310	0.72868	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T;T	0.35236	1.32;1.32	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000030	T	0.55513	0.1925	M	0.71206	2.165	0.80722	D	1	D;P	0.58268	0.982;0.734	P;B	0.58077	0.832;0.326	T	0.60576	-0.7236	10	0.87932	D	0	.	15.7079	0.77598	0.0:0.0:0.0:1.0	.	76;76	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	G	76	ENSP00000410759:E76G;ENSP00000326344:E76G	ENSP00000326344:E76G	E	-	2	0	ATXN7L1	105303517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.273000	0.72581	2.108000	0.64289	0.459000	0.35465	GAG	ATXN7L1	-	NULL	ENSG00000146776		0.378	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	248	0.40	1	T			105516281	105516281	-1	no_errors	ENST00000419735	ensembl	human	known	69_37n	missense	130	15.48	24	SNP	1.000	C
B3GALT1	8708	genome.wustl.edu	37	2	168725668	168725668	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:168725668A>C	ENST00000392690.3	+	1	211	c.119A>C	c.(118-120)cAc>cCc	p.H40P	B3GALT1_ENST00000305861.1_Missense_Mutation_p.H40P|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	40					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCATTCAGCCACCTAACAGTT	0.433																																						dbGAP											0													112.0	112.0	112.0					2																	168725668		2203	4300	6503	-	-	-	SO:0001583	missense	0			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.119A>C	2.37:g.168725668A>C	ENSP00000376456:p.His40Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPB8|Q53SS2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.H40P	ENST00000392690.3	37	c.119	CCDS2227.1	2	.	.	.	.	.	.	.	.	.	.	A	9.944	1.218416	0.22373	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.37584	1.19;1.19	5.75	4.59	0.56863	.	0.326284	0.32703	N	0.005760	T	0.16769	0.0403	N	0.08118	0	0.32552	N	0.532204	B	0.02656	0.0	B	0.01281	0.0	T	0.12372	-1.0550	10	0.24483	T	0.36	-23.652	7.2508	0.26148	0.8417:0.0:0.1583:0.0	.	40	Q9Y5Z6	B3GT1_HUMAN	P	40	ENSP00000303740:H40P;ENSP00000376456:H40P	ENSP00000303740:H40P	H	+	2	0	B3GALT1	168433914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.750000	0.38329	2.320000	0.78422	0.528000	0.53228	CAC	B3GALT1	-	NULL	ENSG00000172318		0.433	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT1	HGNC	protein_coding	OTTHUMT00000255211.2	212	0.00	0	A	NM_020981		168725668	168725668	+1	no_errors	ENST00000305861	ensembl	human	known	69_37n	missense	115	15.44	21	SNP	1.000	C
B3GALT1	8708	genome.wustl.edu	37	2	168725694	168725694	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:168725694A>C	ENST00000392690.3	+	1	237	c.145A>C	c.(145-147)Acc>Ccc	p.T49P	B3GALT1_ENST00000305861.1_Missense_Mutation_p.T49P|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	49					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAAAAACTTCACCTTTGGCAA	0.423																																						dbGAP											0													110.0	110.0	110.0					2																	168725694		2203	4300	6503	-	-	-	SO:0001583	missense	0			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.145A>C	2.37:g.168725694A>C	ENSP00000376456:p.Thr49Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPB8|Q53SS2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.T49P	ENST00000392690.3	37	c.145	CCDS2227.1	2	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938337	0.34189	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.38401	1.14;1.14	5.75	4.52	0.55395	.	0.244071	0.41396	D	0.000888	T	0.29817	0.0745	L	0.44542	1.39	0.49213	D	0.999766	B	0.26512	0.151	B	0.28139	0.086	T	0.06844	-1.0804	10	0.27082	T	0.32	-24.8018	10.774	0.46340	0.7941:0.0:0.0:0.2059	.	49	Q9Y5Z6	B3GT1_HUMAN	P	49	ENSP00000303740:T49P;ENSP00000376456:T49P	ENSP00000303740:T49P	T	+	1	0	B3GALT1	168433940	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.502000	0.66956	2.320000	0.78422	0.528000	0.53228	ACC	B3GALT1	-	NULL	ENSG00000172318		0.423	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT1	HGNC	protein_coding	OTTHUMT00000255211.2	241	0.41	1	A	NM_020981		168725694	168725694	+1	no_errors	ENST00000305861	ensembl	human	known	69_37n	missense	121	20.39	31	SNP	1.000	C
B4GALT1	2683	genome.wustl.edu	37	9	33135302	33135302	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:33135302A>C	ENST00000379731.4	-	2	719	c.533T>G	c.(532-534)gTg>gGg	p.V178G	B4GALT1_ENST00000535206.1_Missense_Mutation_p.V178G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	178					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GATGATGGCCACCTTGTGAGG	0.562																																						dbGAP											0													117.0	101.0	106.0					9																	33135302		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.533T>G	9.37:g.33135302A>C	ENSP00000369055:p.Val178Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.V178G	ENST00000379731.4	37	c.533	CCDS6535.1	9	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648815	0.87958	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.52526	0.66;0.66	5.18	5.18	0.71444	.	0.053889	0.85682	D	0.000000	T	0.77644	0.4161	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84581	0.0661	10	0.87932	D	0	-18.6496	13.2852	0.60239	1.0:0.0:0.0:0.0	.	178	P15291	B4GT1_HUMAN	G	178;178;135	ENSP00000440341:V178G;ENSP00000369055:V178G	ENSP00000369055:V178G	V	-	2	0	B4GALT1	33125302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.278000	0.78587	2.297000	0.77311	0.533000	0.62120	GTG	B4GALT1	-	pfam_Galactosyl_T_2_met	ENSG00000086062		0.562	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT1	HGNC	protein_coding	OTTHUMT00000052039.1	108	0.00	0	A	NM_001497		33135302	33135302	-1	no_errors	ENST00000379731	ensembl	human	known	69_37n	missense	92	17.70	20	SNP	1.000	C
BAK1	578	genome.wustl.edu	37	6	33543621	33543621	+	Missense_Mutation	SNP	A	A	C	rs1051912		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:33543621A>C	ENST00000374467.3	-	3	403	c.155T>G	c.(154-156)gTg>gGg	p.V52G	BAK1_ENST00000360661.5_Missense_Mutation_p.V52G|BAK1_ENST00000442998.2_Missense_Mutation_p.V52G	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	52					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						AGGGGCAGCCACCCCTTCAGC	0.582																																						dbGAP											0													81.0	74.0	76.0					6																	33543621		2203	4300	6503	-	-	-	SO:0001583	missense	0			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.155T>G	6.37:g.33543621A>C	ENSP00000363591:p.Val52Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	pfam_Bcl2_BH,smart_Bcl2_BH,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.V52G	ENST00000374467.3	37	c.155	CCDS4781.1	6	.	.	.	.	.	.	.	.	.	.	G	6.227	0.410104	0.11812	.	.	ENSG00000030110	ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.04706	3.57;3.57;3.57	3.83	1.75	0.24633	.	1.022090	0.07874	N	0.968375	T	0.00666	0.0022	N	0.08118	0	0.24237	N	0.995374	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.47812	-0.9088	10	0.17369	T	0.5	-9.5044	3.4678	0.07555	0.1021:0.1661:0.5619:0.1699	.	52;52	B4E0L2;Q16611	.;BAK_HUMAN	G	52	ENSP00000363591:V52G;ENSP00000391258:V52G;ENSP00000353878:V52G	ENSP00000353878:V52G	V	-	2	0	BAK1	33651599	0.022000	0.18835	0.677000	0.29947	0.360000	0.29518	0.390000	0.20768	0.392000	0.25172	-0.366000	0.07423	GTG	BAK1	-	NULL	ENSG00000030110		0.582	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAK1	HGNC	protein_coding	OTTHUMT00000040202.1	47	0.00	0	A	NM_001188		33543621	33543621	-1	no_errors	ENST00000360661	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.402	C
BAZ2B	29994	genome.wustl.edu	37	2	160193999	160193999	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160193999T>G	ENST00000392783.2	-	32	6156				BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAACGGATGGTGCAGGAGCAG	0.428																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5660+78A>C	2.37:g.160193999T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	NULL	p.A131	ENST00000392783.2	37	c.393	CCDS2209.2	2																																																																																			BAZ2B	-	NULL	ENSG00000123636		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	204	0.97	2	T			160193999	160193999	-1	no_start_codon:no_stop_codon	ENST00000426648	ensembl	human	putative	69_37n	silent	139	19.08	33	SNP	1.000	G
BAZ2B	29994	genome.wustl.edu	37	2	160205738	160205738	+	Silent	SNP	A	A	C	rs374319618		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160205738A>C	ENST00000392783.2	-	29	5412	c.4917T>G	c.(4915-4917)ggT>ggG	p.G1639G	BAZ2B_ENST00000355831.2_Silent_p.G1605G|BAZ2B_ENST00000392782.1_Silent_p.G1603G|BAZ2B_ENST00000343439.5_Silent_p.G1539G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGTAACCACACCAGTGGGCC	0.373																																						dbGAP											0													85.0	82.0	83.0					2																	160205738		1858	4091	5949	-	-	-	SO:0001819	synonymous_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4917T>G	2.37:g.160205738A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.G1639	ENST00000392783.2	37	c.4917	CCDS2209.2	2																																																																																			BAZ2B	-	NULL	ENSG00000123636		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	231	0.43	1	A			160205738	160205738	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	silent	112	20.98	30	SNP	0.982	C
BAZ2B	29994	genome.wustl.edu	37	2	160206228	160206228	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160206228T>G	ENST00000392783.2	-	28	5349	c.4854A>C	c.(4852-4854)tcA>tcC	p.S1618S	BAZ2B_ENST00000355831.2_Silent_p.S1584S|BAZ2B_ENST00000392782.1_Silent_p.S1582S|BAZ2B_ENST00000343439.5_Silent_p.S1518S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCTGAAGAGGTGATAAAGCAA	0.433																																						dbGAP											0													73.0	69.0	70.0					2																	160206228		1908	4128	6036	-	-	-	SO:0001819	synonymous_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4854A>C	2.37:g.160206228T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1618	ENST00000392783.2	37	c.4854	CCDS2209.2	2																																																																																			BAZ2B	-	NULL	ENSG00000123636		0.433	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	160	0.00	0	T			160206228	160206228	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	silent	82	19.61	20	SNP	0.997	G
BAZ2B	29994	genome.wustl.edu	37	2	160206294	160206294	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160206294T>G	ENST00000392783.2	-	28	5283	c.4788A>C	c.(4786-4788)tcA>tcC	p.S1596S	BAZ2B_ENST00000355831.2_Silent_p.S1562S|BAZ2B_ENST00000392782.1_Silent_p.S1560S|BAZ2B_ENST00000343439.5_Silent_p.S1496S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGGGGTAGGTGAAGGTGACT	0.463																																						dbGAP											0													119.0	117.0	118.0					2																	160206294		2053	4204	6257	-	-	-	SO:0001819	synonymous_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4788A>C	2.37:g.160206294T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1596	ENST00000392783.2	37	c.4788	CCDS2209.2	2																																																																																			BAZ2B	-	NULL	ENSG00000123636		0.463	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	200	0.50	1	T			160206294	160206294	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	silent	107	20.74	28	SNP	0.845	G
BAZ2B	29994	genome.wustl.edu	37	2	160206300	160206300	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160206300T>G	ENST00000392783.2	-	28	5277	c.4782A>C	c.(4780-4782)tcA>tcC	p.S1594S	BAZ2B_ENST00000355831.2_Silent_p.S1560S|BAZ2B_ENST00000392782.1_Silent_p.S1558S|BAZ2B_ENST00000343439.5_Silent_p.S1494S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAGGTGAAGGTGACTTAGATG	0.463																																						dbGAP											0													128.0	125.0	126.0					2																	160206300		2062	4207	6269	-	-	-	SO:0001819	synonymous_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4782A>C	2.37:g.160206300T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1594	ENST00000392783.2	37	c.4782	CCDS2209.2	2																																																																																			BAZ2B	-	NULL	ENSG00000123636		0.463	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	198	0.50	1	T			160206300	160206300	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	silent	99	26.12	35	SNP	1.000	G
BAZ2B	29994	genome.wustl.edu	37	2	160206384	160206384	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160206384T>G	ENST00000392783.2	-	28	5193	c.4698A>C	c.(4696-4698)acA>acC	p.T1566T	BAZ2B_ENST00000355831.2_Silent_p.T1532T|BAZ2B_ENST00000392782.1_Silent_p.T1530T|BAZ2B_ENST00000343439.5_Silent_p.T1466T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1566					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATCACAGGGTGTTCGTGGCA	0.468																																						dbGAP											0													196.0	193.0	194.0					2																	160206384		2116	4240	6356	-	-	-	SO:0001819	synonymous_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4698A>C	2.37:g.160206384T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.T1566	ENST00000392783.2	37	c.4698	CCDS2209.2	2																																																																																			BAZ2B	-	NULL	ENSG00000123636		0.468	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	307	0.65	2	T			160206384	160206384	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	silent	142	13.94	23	SNP	0.877	G
BBS2	583	genome.wustl.edu	37	16	56531757	56531757	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:56531757A>C	ENST00000245157.5	-	14	2115	c.1695T>G	c.(1693-1695)ggT>ggG	p.G565G	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	565					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGATGATATCACCAGCCAAAT	0.348									Bardet-Biedl syndrome																													dbGAP											0													94.0	90.0	91.0					16																	56531757		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1695T>G	16.37:g.56531757A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CM0|Q96SN9	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.G565	ENST00000245157.5	37	c.1695	CCDS32451.1	16																																																																																			BBS2	-	pirsf_Bardet-Biedl_syndrome_2_prot	ENSG00000125124		0.348	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	120	0.00	0	A	NM_031885		56531757	56531757	-1	no_errors	ENST00000245157	ensembl	human	known	69_37n	silent	80	19.19	19	SNP	0.999	C
BBX	56987	genome.wustl.edu	37	3	107447654	107447654	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:107447654T>G	ENST00000325805.8	+	6	735	c.448T>G	c.(448-450)Tgt>Ggt	p.C150G	BBX_ENST00000402543.1_Missense_Mutation_p.C150G|BBX_ENST00000406780.1_Missense_Mutation_p.C150G|BBX_ENST00000415149.2_Missense_Mutation_p.C150G|BBX_ENST00000416476.2_Missense_Mutation_p.C150G			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	150					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTACAAATGGTGTCCTACCAC	0.388																																						dbGAP											0													157.0	163.0	161.0					3																	107447654		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.448T>G	3.37:g.107447654T>G	ENSP00000319974:p.Cys150Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.C150G	ENST00000325805.8	37	c.448	CCDS46881.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.4|29.4	5.005713|5.005713	0.93287|0.93287	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000449213;ENST00000429270|ENST00000325767	D;D;D;D;D;D;D;D;D;D|.	0.98633|.	-4.59;-4.59;-4.59;-4.94;-4.98;-4.94;-5.04;-4.59;-4.52;-4.52|.	6.02|6.02	6.02|6.02	0.97574|0.97574	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61274|0.61274	0.2334|0.2334	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.89917|.	1.0;1.0;0.903;0.951|.	D;D;P;D|.	0.87578|.	0.993;0.998;0.904;0.91|.	T|T	0.64373|0.64373	-0.6423|-0.6423	9|6	.|0.87932	.|D	.|0	-7.4688|-7.4688	16.542|16.542	0.84395|0.84395	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	150;150;150;150|.	C9JA69;Q8WY36;A2RRM7;Q8WY36-2|.	.;BBX_HUMAN;.;.|.	G|G	150|2	ENSP00000408358:C150G;ENSP00000385317:C150G;ENSP00000319974:C150G;ENSP00000413320:C150G;ENSP00000403860:C150G;ENSP00000413274:C150G;ENSP00000385518:C150G;ENSP00000385530:C150G;ENSP00000407662:C150G;ENSP00000414673:C150G|.	.|ENSP00000319742:V2G	C|V	+|+	1|2	0|0	BBX|BBX	108930344|108930344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.484000|7.484000	0.81180|0.81180	2.304000|2.304000	0.77564|0.77564	0.528000|0.528000	0.53228|0.53228	TGT|GTG	BBX	-	superfamily_HMG_superfamily	ENSG00000114439		0.388	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	653	0.30	2	T	NM_020235		107447654	107447654	+1	no_errors	ENST00000325805	ensembl	human	known	69_37n	missense	466	10.33	54	SNP	1.000	G
BCAR3	8412	genome.wustl.edu	37	1	94049601	94049601	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:94049601T>G	ENST00000370244.1	-	8	1295	c.1007A>C	c.(1006-1008)cAc>cCc	p.H336P	BCAR3_ENST00000539242.1_Missense_Mutation_p.H12P|BCAR3_ENST00000370247.3_Missense_Mutation_p.H245P|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.H336P|BCAR3_ENST00000370243.1_Missense_Mutation_p.H336P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	336					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTCTGACTGGTGGGCTTTGAG	0.512																																						dbGAP											0													110.0	105.0	107.0					1																	94049601		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1007A>C	1.37:g.94049601T>G	ENSP00000359264:p.His336Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.H336P	ENST00000370244.1	37	c.1007	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239042	0.79800	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.26518	2.07;2.04;2.04;2.04;1.73	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	M	0.76574	2.34	0.80722	D	1	D;B;D	0.71674	0.998;0.001;0.994	P;B;P	0.58721	0.844;0.004;0.832	T	0.15492	-1.0435	10	0.40728	T	0.16	-10.2414	15.7229	0.77728	0.0:0.0:0.0:1.0	.	116;336;245	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	P	245;336;336;336;12	ENSP00000359267:H245P;ENSP00000260502:H336P;ENSP00000359264:H336P;ENSP00000359263:H336P;ENSP00000441343:H12P	ENSP00000260502:H336P	H	-	2	0	BCAR3	93822189	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.878000	0.75567	2.108000	0.64289	0.533000	0.62120	CAC	BCAR3	-	NULL	ENSG00000137936		0.512	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	60	0.00	0	T			94049601	94049601	-1	no_errors	ENST00000260502	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	1.000	G
BCAN	63827	genome.wustl.edu	37	1	156626134	156626134	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:156626134T>G	ENST00000329117.5	+	9	2339	c.2003T>G	c.(2002-2004)gTc>gGc	p.V668G	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	668	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGAAGGGGTCCGCTGCCTA	0.637																																						dbGAP											0													91.0	82.0	85.0					1																	156626134		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2003T>G	1.37:g.156626134T>G	ENSP00000331210:p.Val668Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.V668G	ENST00000329117.5	37	c.2003	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400068	0.25291	.	.	ENSG00000132692	ENST00000329117	D	0.92249	-3.0	5.42	4.28	0.50868	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.533489	0.16746	N	0.201256	T	0.75243	0.3823	N	0.11560	0.145	0.80722	D	1	B	0.31503	0.326	B	0.35182	0.197	T	0.74090	-0.3777	10	0.56958	D	0.05	-4.4344	7.6099	0.28124	0.0:0.1873:0.0:0.8127	.	668	Q96GW7	PGCB_HUMAN	G	668	ENSP00000331210:V668G	ENSP00000331210:V668G	V	+	2	0	BCAN	154892758	0.182000	0.23173	0.998000	0.56505	0.118000	0.20060	2.530000	0.45641	0.886000	0.36113	0.459000	0.35465	GTC	BCAN	-	pfam_EGF-like_dom,smart_EGF-like,pfscan_EG-like_dom	ENSG00000132692		0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	90	0.00	0	T	NM_021948		156626134	156626134	+1	no_errors	ENST00000329117	ensembl	human	known	69_37n	missense	137	16.27	27	SNP	0.908	G
BCAS1	8537	genome.wustl.edu	37	20	52601861	52601861	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:52601861T>G	ENST00000395961.3	-	7	1271	c.1105A>C	c.(1105-1107)Acc>Ccc	p.T369P	BCAS1_ENST00000371435.2_Missense_Mutation_p.T369P|BCAS1_ENST00000371440.3_Missense_Mutation_p.T414P|BCAS1_ENST00000434986.2_Missense_Mutation_p.T127P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	369						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCAGAGAGGTGGGTCCTGAT	0.517																																						dbGAP											0													217.0	183.0	194.0					20																	52601861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1105A>C	20.37:g.52601861T>G	ENSP00000379290:p.Thr369Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.T414P	ENST00000395961.3	37	c.1240	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801434	0.70682	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	6.03	3.75	0.43078	.	0.318109	0.34777	N	0.003689	T	0.18257	0.0438	L	0.54323	1.7	0.80722	D	1	D;B;D;D;D;D	0.67145	0.996;0.027;0.996;0.995;0.993;0.993	D;B;D;D;P;P	0.67382	0.925;0.019;0.925;0.951;0.88;0.88	T	0.00901	-1.1521	10	0.72032	D	0.01	-11.0469	5.4003	0.16293	0.1539:0.0816:0.0:0.7645	.	369;127;414;369;369;369	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	P	276;414;247;369;369;127	ENSP00000396361:T276P;ENSP00000360495:T414P;ENSP00000379290:T369P;ENSP00000360490:T369P;ENSP00000409956:T127P	ENSP00000360490:T369P	T	-	1	0	BCAS1	52035268	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	0.884000	0.28214	0.503000	0.28060	0.533000	0.62120	ACC	BCAS1	-	NULL	ENSG00000064787		0.517	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	189	0.53	1	T	NM_003657		52601861	52601861	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	missense	163	15.54	30	SNP	0.992	G
BCAS1	8537	genome.wustl.edu	37	20	52644983	52644983	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:52644983A>C	ENST00000395961.3	-	4	837	c.671T>G	c.(670-672)gTg>gGg	p.V224G	BCAS1_ENST00000371435.2_Missense_Mutation_p.V224G|BCAS1_ENST00000371440.3_Missense_Mutation_p.V224G|BCAS1_ENST00000411563.1_Missense_Mutation_p.V127G	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	224						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACCTCATCCACCTTGTCTTG	0.522																																						dbGAP											0													332.0	285.0	301.0					20																	52644983		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.671T>G	20.37:g.52644983A>C	ENSP00000379290:p.Val224Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.V224G	ENST00000395961.3	37	c.671	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894315	0.33442	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	5.11	-1.14	0.09741	.	0.482456	0.21369	N	0.075664	T	0.04679	0.0127	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.30236	0.0;0.0;0.0;0.274;0.141;0.141	B;B;B;B;B;B	0.30943	0.001;0.001;0.001;0.122;0.072;0.072	T	0.30909	-0.9962	10	0.54805	T	0.06	-2.0811	1.2014	0.01886	0.1943:0.1379:0.3861:0.2818	.	127;224;224;224;224;224	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	G	86;224;102;224;224;127	ENSP00000396361:V86G;ENSP00000360495:V224G;ENSP00000379290:V224G;ENSP00000360490:V224G;ENSP00000397442:V127G	ENSP00000360490:V224G	V	-	2	0	BCAS1	52078390	0.005000	0.15991	0.002000	0.10522	0.008000	0.06430	0.165000	0.16564	0.142000	0.18901	-0.460000	0.05396	GTG	BCAS1	-	NULL	ENSG00000064787		0.522	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	375	0.53	2	A	NM_003657		52644983	52644983	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	missense	291	18.72	67	SNP	0.001	C
BCAS1	8537	genome.wustl.edu	37	20	52645034	52645034	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:52645034A>C	ENST00000395961.3	-	4	786	c.620T>G	c.(619-621)gTg>gGg	p.V207G	BCAS1_ENST00000371435.2_Missense_Mutation_p.V207G|BCAS1_ENST00000371440.3_Missense_Mutation_p.V207G|BCAS1_ENST00000411563.1_Missense_Mutation_p.V110G	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	207						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTCACCTGGCACCTTTTCCTG	0.557																																						dbGAP											0													231.0	211.0	218.0					20																	52645034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.620T>G	20.37:g.52645034A>C	ENSP00000379290:p.Val207Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.V207G	ENST00000395961.3	37	c.620	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	A	9.826	1.187010	0.21870	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03	5.11	0.663	0.17885	.	0.512123	0.20257	N	0.095950	T	0.04907	0.0132	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.28233	0.013;0.013;0.013;0.204;0.019;0.019	B;B;B;B;B;B	0.27380	0.025;0.025;0.025;0.079;0.031;0.031	T	0.35798	-0.9774	10	0.66056	D	0.02	-4.1301	8.7716	0.34735	0.3355:0.0:0.6645:0.0	.	110;207;207;207;207;207	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	G	69;207;85;207;207;110	ENSP00000396361:V69G;ENSP00000360495:V207G;ENSP00000379290:V207G;ENSP00000360490:V207G;ENSP00000397442:V110G	ENSP00000360490:V207G	V	-	2	0	BCAS1	52078441	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.649000	0.24843	0.257000	0.21650	-1.098000	0.02139	GTG	BCAS1	-	NULL	ENSG00000064787		0.557	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	344	0.86	3	A	NM_003657		52645034	52645034	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	missense	293	11.68	39	SNP	0.000	C
BCHE	590	genome.wustl.edu	37	3	165548295	165548295	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:165548295A>C	ENST00000264381.3	-	2	693	c.527T>G	c.(526-528)gTg>gGg	p.V176G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	176					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TAGGGCACCCACCCTATAGTT	0.428																																						dbGAP											0													59.0	61.0	60.0					3																	165548295		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.527T>G	3.37:g.165548295A>C	ENSP00000264381:p.Val176Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.V176G	ENST00000264381.3	37	c.527	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913641	0.52439	.	.	ENSG00000114200	ENST00000264381	D	0.95622	-3.76	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.195954	0.43919	D	0.000519	D	0.98074	0.9365	H	0.94698	3.57	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	D	0.98713	1.0705	10	0.87932	D	0	.	9.3855	0.38340	0.9123:0.0:0.0877:0.0	.	176	P06276	CHLE_HUMAN	G	176	ENSP00000264381:V176G	ENSP00000264381:V176G	V	-	2	0	BCHE	167030989	0.635000	0.27199	0.994000	0.49952	0.835000	0.47333	5.008000	0.63991	2.139000	0.66308	0.533000	0.62120	GTG	BCHE	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000114200		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	125	0.79	1	A			165548295	165548295	-1	no_errors	ENST00000264381	ensembl	human	known	69_37n	missense	105	19.85	26	SNP	0.670	C
BCL9	607	genome.wustl.edu	37	1	147091302	147091302	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:147091302A>C	ENST00000234739.3	+	8	2081	c.1341A>C	c.(1339-1341)ccA>ccC	p.P447P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	447	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAATGGTTCCACCTTCTATGA	0.532			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													50.0	56.0	54.0					1																	147091302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1341A>C	1.37:g.147091302A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P447	ENST00000234739.3	37	c.1341	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	170	0.00	0	A	NM_004326		147091302	147091302	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	silent	174	12.12	24	SNP	0.907	C
BCL9	607	genome.wustl.edu	37	1	147092751	147092751	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:147092751A>C	ENST00000234739.3	+	8	3530	c.2790A>C	c.(2788-2790)tcA>tcC	p.S930S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	930	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGCCCCGTCACCTGGATGGA	0.592			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													106.0	104.0	105.0					1																	147092751		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2790A>C	1.37:g.147092751A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.S930	ENST00000234739.3	37	c.2790	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	207	0.00	0	A	NM_004326		147092751	147092751	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	silent	243	10.22	28	SNP	0.928	C
BCLAF1	9774	genome.wustl.edu	37	6	136599746	136599746	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:136599746A>C	ENST00000531224.1	-	4	525	c.273T>G	c.(271-273)ggT>ggG	p.G91G	BCLAF1_ENST00000527536.1_Silent_p.G91G|BCLAF1_ENST00000530767.1_Silent_p.G91G|BCLAF1_ENST00000392348.2_Silent_p.G89G|BCLAF1_ENST00000527759.1_Silent_p.G89G|BCLAF1_ENST00000353331.4_Silent_p.G89G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	91					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTATAACCACCTCGATGAT	0.458																																					Colon(142;1534 1789 5427 7063 28491)	dbGAP											0													130.0	124.0	126.0					6																	136599746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.273T>G	6.37:g.136599746A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.G91	ENST00000531224.1	37	c.273	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.458	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	208	0.48	1	A	NM_014739		136599746	136599746	-1	no_errors	ENST00000531224	ensembl	human	known	69_37n	silent	190	12.79	28	SNP	1.000	C
BCOR	54880	genome.wustl.edu	37	X	39923696	39923696	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:39923696A>C	ENST00000378444.4	-	7	3623	c.3395T>G	c.(3394-3396)gTg>gGg	p.V1132G	BCOR_ENST00000397354.3_Missense_Mutation_p.V1132G|BCOR_ENST00000378455.4_Missense_Mutation_p.V1114G|BCOR_ENST00000342274.4_Missense_Mutation_p.V1132G|BCOR_ENST00000378463.1_Missense_Mutation_p.V9G	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1132					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTCCTGTCCACCCGGAGGGT	0.617			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													58.0	50.0	53.0					X																	39923696		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3395T>G	X.37:g.39923696A>C	ENSP00000367705:p.Val1132Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V1132G	ENST00000378444.4	37	c.3395	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662522	0.47572	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.63	4.46	0.54185	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.36524	D	0.870331	B;B;B	0.16166	0.016;0.015;0.016	B;B;B	0.20384	0.029;0.021;0.029	T	0.31752	-0.9932	9	0.35671	T	0.21	-1.3568	8.4052	0.32610	0.9094:0.0:0.0906:0.0	.	1114;1132;1132	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	G	36;9;1114;1132;1132;1132;1132	ENSP00000408006:V36G;ENSP00000367724:V9G;ENSP00000367716:V1114G;ENSP00000380512:V1132G;ENSP00000367705:V1132G;ENSP00000345923:V1132G;ENSP00000384485:V1132G	ENSP00000345923:V1132G	V	-	2	0	BCOR	39808640	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	3.818000	0.55678	0.768000	0.33290	0.430000	0.28490	GTG	BCOR	-	NULL	ENSG00000183337		0.617	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	46	0.00	0	A	NM_017745		39923696	39923696	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	C
BCORL1	63035	genome.wustl.edu	37	X	129147498	129147498	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:129147498T>C	ENST00000218147.7	+	4	947	c.750T>C	c.(748-750)ccT>ccC	p.P250P	BCORL1_ENST00000303743.5_Silent_p.P250P|BCORL1_ENST00000540052.1_Silent_p.P250P|BCORL1_ENST00000359304.2_Silent_p.P250P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	250	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTCCTTCCCCTCCCTTAGCAC	0.612																																						dbGAP											0													140.0	125.0	130.0					X																	129147498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.750T>C	X.37:g.129147498T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P250	ENST00000218147.7	37	c.750	CCDS14616.1	X																																																																																			BCORL1	-	NULL	ENSG00000085185		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	310	0.64	2	T	NM_021946		129147498	129147498	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	silent	309	12.18	43	SNP	0.964	C
BCS1L	617	genome.wustl.edu	37	2	219527707	219527707	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:219527707A>C	ENST00000431802.1	+	7	1690	c.991A>C	c.(991-993)Acc>Ccc	p.T331P	BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392109.1_Missense_Mutation_p.T331P|BCS1L_ENST00000392111.2_Missense_Mutation_p.T331P|BCS1L_ENST00000392110.2_Missense_Mutation_p.T331P|BCS1L_ENST00000359273.3_Missense_Mutation_p.T331P|BCS1L_ENST00000439945.1_Missense_Mutation_p.T331P|BCS1L_ENST00000412366.1_Missense_Mutation_p.T331P			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	331					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCATGACCACCAACCACGT	0.592																																						dbGAP											0													109.0	95.0	100.0					2																	219527707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.991A>C	2.37:g.219527707A>C	ENSP00000413908:p.Thr331Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.T331P	ENST00000431802.1	37	c.991	CCDS2419.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.205708|4.205708	0.79127|0.79127	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000426649|ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	.|D;D;D;D;D;D;D	.|0.92911	.|-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	4.94|4.94	4.94|4.94	0.65067|0.65067	.|ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98188|0.98188	0.9401|0.9401	H|H	0.99919|0.99919	4.95|4.95	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99257|0.99257	1.0889|1.0889	5|10	.|0.87932	.|D	.|0	-18.2051|-18.2051	14.7653|14.7653	0.69634|0.69634	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|331	.|Q9Y276	.|BCS1_HUMAN	P|P	112|331	.|ENSP00000352219:T331P;ENSP00000375957:T331P;ENSP00000375958:T331P;ENSP00000375959:T331P;ENSP00000406494:T331P;ENSP00000404999:T331P;ENSP00000413908:T331P	.|ENSP00000352219:T331P	H|T	+|+	2|1	0|0	BCS1L|BCS1L	219235951|219235951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	9.097000|9.097000	0.94193|0.94193	2.071000|2.071000	0.62044|0.62044	0.459000|0.459000	0.35465|0.35465	CAC|ACC	BCS1L	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000074582		0.592	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	130	0.00	0	A	NM_004328		219527707	219527707	+1	no_errors	ENST00000359273	ensembl	human	known	69_37n	missense	149	11.83	20	SNP	1.000	C
BDKRB2	624	genome.wustl.edu	37	14	96707011	96707011	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:96707011A>C	ENST00000306005.3	+	3	542	c.346A>C	c.(346-348)Acc>Ccc	p.T116P	BDKRB2_ENST00000554311.1_Missense_Mutation_p.T116P|BDKRB2_ENST00000542454.2_Missense_Mutation_p.T89P|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.T89P	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	116					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGGGCCATCACCATCTCCAA	0.587																																						dbGAP											0													129.0	129.0	129.0					14																	96707011		2203	4300	6503	-	-	-	SO:0001583	missense	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.346A>C	14.37:g.96707011A>C	ENSP00000307713:p.Thr116Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.T116P	ENST00000306005.3	37	c.346	CCDS9942.1	14	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434608	0.62955	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.225560	0.43110	D	0.000607	T	0.79919	0.4529	L	0.50333	1.59	0.38864	D	0.956557	D	0.64830	0.994	D	0.66351	0.943	T	0.82194	-0.0578	10	0.66056	D	0.02	-47.4862	9.7901	0.40699	0.8464:0.0:0.0:0.1536	.	116	P30411	BKRB2_HUMAN	P	89;116;116;89	ENSP00000439459:T89P;ENSP00000450482:T116P;ENSP00000307713:T116P;ENSP00000438376:T89P	ENSP00000307713:T116P	T	+	1	0	BDKRB2	95776764	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.806000	0.62569	1.879000	0.54435	0.459000	0.35465	ACC	BDKRB2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Brdyknn_rcpt,prints_ATII_rcpt	ENSG00000168398		0.587	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	87	0.00	0	A			96707011	96707011	+1	no_errors	ENST00000306005	ensembl	human	known	69_37n	missense	37	18.37	9	SNP	1.000	C
BDP1	55814	genome.wustl.edu	37	5	70837390	70837390	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:70837390A>C	ENST00000358731.4	+	29	6395	c.6132A>C	c.(6130-6132)tcA>tcC	p.S2044S	BDP1_ENST00000380675.2_Silent_p.S180S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2044					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACTTTCTTCACCTGTCATTA	0.333																																						dbGAP											0													117.0	111.0	113.0					5																	70837390		1851	4097	5948	-	-	-	SO:0001819	synonymous_variant	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6132A>C	5.37:g.70837390A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	NULL	p.H300P	ENST00000358731.4	37	c.899	CCDS43328.1	5																																																																																			BDP1	-	NULL	ENSG00000145734		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	124	0.00	0	A	NM_018429		70837390	70837390	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514903	ensembl	human	known	69_37n	missense	102	25.00	34	SNP	0.435	C
RIC8A	60626	genome.wustl.edu	37	11	205596	205596	+	5'Flank	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:205596A>C	ENST00000526104.1	+	0	0				BET1L_ENST00000325147.9_Silent_p.G61G|BET1L_ENST00000529614.2_Intron|BET1L_ENST00000382762.3_Intron|BET1L_ENST00000332865.6_Intron|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000486280.1_Intron|RP11-304M2.5_ENST00000526963.1_RNA|RIC8A_ENST00000325207.5_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATACACGCACACCGTGGGCCC	0.592																																						dbGAP											0													138.0	100.0	113.0					11																	205596		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069		11.37:g.205596A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	pfscan_T_SNARE_dom	p.G61	ENST00000526104.1	37	c.183		11																																																																																			BET1L	-	NULL	ENSG00000177951		0.592	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	BET1L	HGNC	protein_coding	OTTHUMT00000384761.1	33	0.00	0	A	NM_021932		205596	205596	-1	no_errors	ENST00000325147	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	0.000	C
BFSP2	8419	genome.wustl.edu	37	3	133193849	133193849	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:133193849A>C	ENST00000302334.2	+	0	1370					NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin						cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGAAGAAAACACCCTTCCTCA	0.453																																						dbGAP											0													119.0	112.0	114.0					3																	133193849		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.*33A>C	3.37:g.133193849A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D32|Q9HBW5	RNA	SNP	-	NULL	ENST00000302334.2	37	NULL	CCDS33859.1	3																																																																																			BFSP2	-	-	ENSG00000170819		0.453	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP2	HGNC	protein_coding	OTTHUMT00000357031.1	142	0.70	1	A			133193849	133193849	+1	no_errors	ENST00000510039	ensembl	human	known	69_37n	rna	108	22.86	32	SNP	0.002	C
BHLHB9	80823	genome.wustl.edu	37	X	102004634	102004634	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:102004634A>C	ENST00000372735.1	+	4	1296	c.711A>C	c.(709-711)gcA>gcC	p.A237A	BHLHB9_ENST00000361229.4_Silent_p.A237A|BHLHB9_ENST00000457056.1_Silent_p.A237A|BHLHB9_ENST00000448867.1_Silent_p.A237A|BHLHB9_ENST00000447531.1_Silent_p.A237A			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	237					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATCCCAGGCACCATCTGAGG	0.488																																						dbGAP											0													78.0	73.0	75.0					X																	102004634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.711A>C	X.37:g.102004634A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0G2	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A237	ENST00000372735.1	37	c.711	CCDS14502.1	X																																																																																			BHLHB9	-	NULL	ENSG00000198908		0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	384	0.26	1	A	NM_030639		102004634	102004634	+1	no_errors	ENST00000361229	ensembl	human	known	69_37n	silent	317	10.36	37	SNP	0.000	C
BICD1	636	genome.wustl.edu	37	12	32491811	32491811	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:32491811A>C	ENST00000281474.5	+	8	2765	c.2662A>C	c.(2662-2664)Acc>Ccc	p.T888P	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	888					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCCTGATCCCACCTCCACAGA	0.507																																						dbGAP											0													84.0	94.0	91.0					12																	32491811		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2662A>C	12.37:g.32491811A>C	ENSP00000281474:p.Thr888Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like	p.T888P	ENST00000281474.5	37	c.2662	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144012	0.37825	.	.	ENSG00000151746	ENST00000281474	T	0.47869	0.83	5.61	5.61	0.85477	.	0.000000	0.48286	D	0.000187	T	0.24353	0.0590	N	0.08118	0	0.80722	D	1	B	0.32968	0.392	B	0.28139	0.086	T	0.12760	-1.0535	10	0.51188	T	0.08	.	6.8818	0.24177	0.8717:0.0:0.1283:0.0	.	888	Q96G01	BICD1_HUMAN	P	888	ENSP00000281474:T888P	ENSP00000281474:T888P	T	+	1	0	BICD1	32383078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.129000	0.42055	2.140000	0.66376	0.482000	0.46254	ACC	BICD1	-	NULL	ENSG00000151746		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	268	0.37	1	A	NM_001714		32491811	32491811	+1	no_errors	ENST00000281474	ensembl	human	known	69_37n	missense	256	15.51	47	SNP	1.000	C
BIRC6	57448	genome.wustl.edu	37	2	32688310	32688310	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:32688310C>T	ENST00000421745.2	+	24	4936	c.4802C>T	c.(4801-4803)aCa>aTa	p.T1601I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1601					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCATCTGGGACAGTTGGGGAA	0.507																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													61.0	58.0	59.0					2																	32688310		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4802C>T	2.37:g.32688310C>T	ENSP00000393596:p.Thr1601Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.T1601I	ENST00000421745.2	37	c.4802	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782432	0.49891	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.92	5.92	0.95590	.	0.064020	0.64402	D	0.000008	T	0.63450	0.2512	L	0.29908	0.895	0.49798	D	0.999822	P	0.44578	0.838	B	0.33042	0.157	T	0.66594	-0.5884	10	0.44086	T	0.13	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	1601	Q9NR09	BIRC6_HUMAN	I	1601	ENSP00000393596:T1601I	ENSP00000393596:T1601I	T	+	2	0	BIRC6	32541814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.822000	0.97130	0.650000	0.86243	ACA	BIRC6	-	NULL	ENSG00000115760		0.507	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	31	0.00	0	C	NM_016252		32688310	32688310	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	T
BMP1	649	genome.wustl.edu	37	8	22037984	22037984	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:22037984A>C	ENST00000306385.5	+	8	1735	c.1065A>C	c.(1063-1065)acA>acC	p.T355T	BMP1_ENST00000306349.8_Silent_p.T355T|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.T355T|BMP1_ENST00000397814.3_Silent_p.T355T	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	355	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTCTGTCACACCCGGGGAGA	0.612																																						dbGAP											0													171.0	146.0	155.0					8																	22037984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1065A>C	8.37:g.22037984A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom	p.T355	ENST00000306385.5	37	c.1065	CCDS6026.1	8																																																																																			BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000168487		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	111	0.89	1	A	NM_006132		22037984	22037984	+1	no_errors	ENST00000306385	ensembl	human	known	69_37n	silent	62	25.58	22	SNP	0.111	C
BMP1	649	genome.wustl.edu	37	8	22054300	22054300	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:22054300A>C	ENST00000306385.5	+	14	2543	c.1873A>C	c.(1873-1875)Acc>Ccc	p.T625P	BMP1_ENST00000306349.8_Missense_Mutation_p.T625P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.T625P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	625	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTGGCCCCCACCCAGTACCG	0.612																																						dbGAP											0													63.0	53.0	57.0					8																	22054300		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1873A>C	8.37:g.22054300A>C	ENSP00000305714:p.Thr625Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom	p.T625P	ENST00000306385.5	37	c.1873	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601820	0.46423	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.16597	2.33;2.33;2.33	5.65	5.65	0.86999	CUB (5);	0.000000	0.39687	U	0.001296	T	0.13628	0.0330	N	0.01771	-0.73	0.80722	D	1	B;D;B;B	0.63880	0.001;0.993;0.006;0.008	B;D;B;B	0.65443	0.01;0.935;0.016;0.003	T	0.21793	-1.0235	10	0.02654	T	1	.	14.8541	0.70323	1.0:0.0:0.0:0.0	.	625;698;625;625	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	P	625	ENSP00000305714:T625P;ENSP00000380917:T625P;ENSP00000306121:T625P	ENSP00000306121:T625P	T	+	1	0	BMP1	22110245	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	2.150000	0.42254	2.157000	0.67596	0.379000	0.24179	ACC	BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000168487		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	47	0.00	0	A	NM_006132		22054300	22054300	+1	no_errors	ENST00000306385	ensembl	human	known	69_37n	missense	35	29.41	15	SNP	1.000	C
BMX	660	genome.wustl.edu	37	X	15536099	15536099	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15536099A>C	ENST00000357607.2	+	6	681	c.493A>C	c.(493-495)Acc>Ccc	p.T165P	BMX_ENST00000342014.6_Missense_Mutation_p.T165P|BMX_ENST00000348343.6_Missense_Mutation_p.T165P			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	165					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAGAGTTCCCACCTTCCCAGA	0.338																																						dbGAP											0													118.0	102.0	107.0					X																	15536099		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.493A>C	X.37:g.15536099A>C	ENSP00000350224:p.Thr165Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.T165P	ENST00000357607.2	37	c.493	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	A	0.401	-0.918239	0.02396	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75589	-0.95;-0.95;-0.95	4.97	-3.11	0.05299	.	2.048430	0.02086	N	0.052766	T	0.49355	0.1552	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25537	-1.0129	10	0.31617	T	0.26	.	1.0681	0.01616	0.3924:0.1553:0.2984:0.1539	.	165	P51813	BMX_HUMAN	P	165	ENSP00000350224:T165P;ENSP00000308774:T165P;ENSP00000340082:T165P	ENSP00000340082:T165P	T	+	1	0	BMX	15446020	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.060000	0.11712	-0.379000	0.07906	0.486000	0.48141	ACC	BMX	-	NULL	ENSG00000102010		0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	193	0.00	0	A	NM_001721		15536099	15536099	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	missense	129	16.67	26	SNP	0.000	C
BMX	660	genome.wustl.edu	37	X	15540568	15540568	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15540568T>C	ENST00000357607.2	+	7	798	c.610T>C	c.(610-612)Tcc>Ccc	p.S204P	BMX_ENST00000342014.6_Missense_Mutation_p.S204P|BMX_ENST00000348343.6_Missense_Mutation_p.S204P			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	204					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAACTATGGCTCCCAGCCACC	0.443																																						dbGAP											0													141.0	121.0	128.0					X																	15540568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.610T>C	X.37:g.15540568T>C	ENSP00000350224:p.Ser204Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.S204P	ENST00000357607.2	37	c.610	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	T	3.632	-0.075241	0.07184	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.76578	-1.03;-1.03;-1.03	0.602	0.602	0.17535	.	.	.	.	.	T	0.55986	0.1955	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.47086	-0.9144	8	0.29301	T	0.29	.	.	.	.	.	204	P51813	BMX_HUMAN	P	204	ENSP00000350224:S204P;ENSP00000308774:S204P;ENSP00000340082:S204P	ENSP00000340082:S204P	S	+	1	0	BMX	15450489	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.330000	0.19715	0.455000	0.26910	0.237000	0.17872	TCC	BMX	-	NULL	ENSG00000102010		0.443	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	455	0.44	2	T	NM_001721		15540568	15540568	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	missense	370	17.96	81	SNP	0.007	C
BMX	660	genome.wustl.edu	37	X	15540576	15540576	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15540576A>C	ENST00000357607.2	+	7	806	c.618A>C	c.(616-618)ccA>ccC	p.P206P	BMX_ENST00000342014.6_Silent_p.P206P|BMX_ENST00000348343.6_Silent_p.P206P			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	206					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCTCCCAGCCACCATCTTCAA	0.443																																						dbGAP											0													136.0	115.0	122.0					X																	15540576		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.618A>C	X.37:g.15540576A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH9|O60564|Q12871	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.P206	ENST00000357607.2	37	c.618	CCDS14168.1	X																																																																																			BMX	-	NULL	ENSG00000102010		0.443	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	440	0.23	1	A	NM_001721		15540576	15540576	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	silent	374	13.79	60	SNP	0.079	C
BMX	660	genome.wustl.edu	37	X	15540589	15540589	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15540589A>C	ENST00000357607.2	+	7	819	c.631A>C	c.(631-633)Acc>Ccc	p.T211P	BMX_ENST00000342014.6_Missense_Mutation_p.T211P|BMX_ENST00000348343.6_Missense_Mutation_p.T211P			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	211					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ATCTTCAAGTACCAGTCTAGC	0.443																																						dbGAP											0													135.0	113.0	120.0					X																	15540589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.631A>C	X.37:g.15540589A>C	ENSP00000350224:p.Thr211Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.T211P	ENST00000357607.2	37	c.631	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	A	2.183	-0.387038	0.04932	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.76186	-1.0;-1.0;-1.0	0.235	0.235	0.15431	.	0.626869	0.15683	N	0.249807	T	0.52885	0.1762	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	P	0.46208	0.507	T	0.49688	-0.8913	9	0.15066	T	0.55	.	.	.	.	.	211	P51813	BMX_HUMAN	P	211	ENSP00000350224:T211P;ENSP00000308774:T211P;ENSP00000340082:T211P	ENSP00000340082:T211P	T	+	1	0	BMX	15450510	0.266000	0.24112	0.050000	0.19076	0.076000	0.17211	1.046000	0.30354	0.245000	0.21373	0.242000	0.17961	ACC	BMX	-	NULL	ENSG00000102010		0.443	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	432	0.00	0	A	NM_001721		15540589	15540589	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	missense	375	10.07	42	SNP	0.063	C
BMP15	9210	genome.wustl.edu	37	X	50659374	50659374	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:50659374A>C	ENST00000252677.3	+	2	946	c.946A>C	c.(946-948)Acc>Ccc	p.T316P		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	316					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCTTTCTACACCCCAAACTA	0.493																																						dbGAP											0													163.0	138.0	146.0					X																	50659374		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.946A>C	X.37:g.50659374A>C	ENSP00000252677:p.Thr316Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.T316P	ENST00000252677.3	37	c.946	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	a	12.79	2.043318	0.36085	.	.	ENSG00000130385	ENST00000252677	D	0.84070	-1.8	5.58	4.4	0.53042	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.236628	0.48286	N	0.000199	D	0.86916	0.6048	L	0.57536	1.79	0.28599	N	0.90924	D	0.69078	0.997	D	0.65684	0.937	T	0.80489	-0.1360	10	0.46703	T	0.11	.	9.2765	0.37703	0.8364:0.0:0.0:0.1636	.	316	O95972	BMP15_HUMAN	P	316	ENSP00000252677:T316P	ENSP00000252677:T316P	T	+	1	0	BMP15	50676114	1.000000	0.71417	0.199000	0.23439	0.006000	0.05464	5.107000	0.64603	0.730000	0.32425	-0.415000	0.06103	ACC	BMP15	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	ENSG00000130385		0.493	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	230	0.00	0	A	NM_005448		50659374	50659374	+1	no_errors	ENST00000252677	ensembl	human	known	69_37n	missense	220	12.65	32	SNP	0.993	C
BNC1	646	genome.wustl.edu	37	15	83926490	83926490	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:83926490A>C	ENST00000345382.2	-	5	2774	c.2689T>G	c.(2689-2691)Tcg>Gcg	p.S897A	BNC1_ENST00000569704.1_Missense_Mutation_p.S890A|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	897					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACAAGGCTCGACCCTTCACAG	0.557																																						dbGAP											0													194.0	160.0	172.0					15																	83926490		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2689T>G	15.37:g.83926490A>C	ENSP00000307041:p.Ser897Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S897A	ENST00000345382.2	37	c.2689	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	A	1.917	-0.449258	0.04572	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.41400	1.0	5.41	-1.28	0.09318	.	1.177130	0.05781	N	0.608692	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14839	-1.0458	10	0.09338	T	0.73	0.3022	1.6369	0.02744	0.3186:0.2192:0.3498:0.1124	.	890;897	F5GY04;Q01954	.;BNC1_HUMAN	A	897;890	ENSP00000307041:S897A	ENSP00000307041:S897A	S	-	1	0	BNC1	81717494	0.000000	0.05858	0.000000	0.03702	0.784000	0.44337	0.191000	0.17076	-0.339000	0.08401	-0.313000	0.08912	TCG	BNC1	-	NULL	ENSG00000169594		0.557	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	324	0.00	0	A	NM_001717		83926490	83926490	-1	no_errors	ENST00000345382	ensembl	human	known	69_37n	missense	282	11.25	36	SNP	0.000	C
BOD1L1	259282	genome.wustl.edu	37	4	13603247	13603247	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:13603247A>C	ENST00000040738.5	-	10	5412	c.5277T>G	c.(5275-5277)ggT>ggG	p.G1759G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1759						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCAGGACAACACCTGCACCTG	0.517																																						dbGAP											0													246.0	236.0	239.0					4																	13603247		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5277T>G	4.37:g.13603247A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.G1759	ENST00000040738.5	37	c.5277	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.517	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	387	0.26	1	A	NM_148894		13603247	13603247	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	silent	330	18.11	73	SNP	0.001	C
BOD1L1	259282	genome.wustl.edu	37	4	13603253	13603253	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:13603253A>C	ENST00000040738.5	-	10	5406	c.5271T>G	c.(5269-5271)ggT>ggG	p.G1757G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1757						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAACACCTGCACCTGTAACCA	0.522																																						dbGAP											0													232.0	224.0	227.0					4																	13603253		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5271T>G	4.37:g.13603253A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.G1757	ENST00000040738.5	37	c.5271	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.522	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	391	0.51	2	A	NM_148894		13603253	13603253	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	silent	350	13.51	55	SNP	0.046	C
BOD1L1	259282	genome.wustl.edu	37	4	13603748	13603748	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:13603748A>C	ENST00000040738.5	-	10	4911	c.4776T>G	c.(4774-4776)ggT>ggG	p.G1592G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1592						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAACAGCCCCACCTTCTTCAG	0.478																																						dbGAP											0													52.0	50.0	50.0					4																	13603748		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4776T>G	4.37:g.13603748A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.G1592	ENST00000040738.5	37	c.4776	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.478	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	138	0.72	1	A	NM_148894		13603748	13603748	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	silent	92	28.68	37	SNP	0.844	C
BPIFA1	51297	genome.wustl.edu	37	20	31828151	31828151	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31828151A>C	ENST00000354297.4	+	5	612	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	BPIFA1_ENST00000375413.4_Missense_Mutation_p.T181P|BPIFA1_ENST00000375422.2_Missense_Mutation_p.T181P	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	181					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TGGTGACTGCACCCATTCCCC	0.537																																						dbGAP											0													194.0	184.0	188.0					20																	31828151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.541A>C	20.37:g.31828151A>C	ENSP00000346251:p.Thr181Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.T181P	ENST00000354297.4	37	c.541	CCDS13217.1	20	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273403	0.59649	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.05649	3.41;3.41;3.41	5.03	3.94	0.45596	.	0.631002	0.15644	N	0.251729	T	0.13798	0.0334	M	0.61703	1.905	0.26948	N	0.966106	D	0.61080	0.989	P	0.55055	0.767	T	0.08351	-1.0726	10	0.38643	T	0.18	-6.0032	7.4091	0.27007	0.9031:0.0:0.0969:0.0	.	181	Q9NP55	BPIA1_HUMAN	P	181;181;181;167	ENSP00000364571:T181P;ENSP00000346251:T181P;ENSP00000364562:T181P	ENSP00000346251:T181P	T	+	1	0	BPIFA1	31291812	0.142000	0.22610	1.000000	0.80357	0.896000	0.52359	1.710000	0.37920	1.059000	0.40554	0.533000	0.62120	ACC	BPIFA1	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000198183		0.537	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA1	HGNC	protein_coding	OTTHUMT00000078667.2	307	0.00	0	A	NM_130852		31828151	31828151	+1	no_errors	ENST00000354297	ensembl	human	known	69_37n	missense	231	14.76	40	SNP	0.950	C
BPIFA3	128861	genome.wustl.edu	37	20	31811719	31811719	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31811719T>G	ENST00000375454.3	+	2	440	c.230T>G	c.(229-231)gTg>gGg	p.V77G	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.V77G	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	77						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCAGGGCTGGTGGGCTGGCTA	0.542																																						dbGAP											0													88.0	75.0	79.0					20																	31811719		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.230T>G	20.37:g.31811719T>G	ENSP00000364603:p.Val77Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.V77G	ENST00000375454.3	37	c.230	CCDS13216.2	20	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330349	0.41297	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.38077	1.43;1.16	4.27	4.27	0.50696	.	0.176078	0.27509	N	0.019056	T	0.46112	0.1376	L	0.32530	0.975	0.51482	D	0.999927	D;D	0.76494	0.999;0.999	D;D	0.87578	0.988;0.998	T	0.44997	-0.9291	10	0.87932	D	0	-16.144	10.0929	0.42458	0.0:0.0:0.0:1.0	.	77;77	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	G	77	ENSP00000364603:V77G;ENSP00000364601:V77G	ENSP00000364601:V77G	V	+	2	0	BPIFA3	31275380	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	2.993000	0.49425	2.159000	0.67721	0.533000	0.62120	GTG	BPIFA3	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000131059		0.542	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BPIFA3	HGNC	protein_coding	OTTHUMT00000078672.1	101	0.00	0	T	NM_178466		31811719	31811719	+1	no_errors	ENST00000375454	ensembl	human	known	69_37n	missense	178	12.98	27	SNP	1.000	G
BPIFA3	128861	genome.wustl.edu	37	20	31811746	31811746	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31811746A>C	ENST00000375454.3	+	2	467	c.257A>C	c.(256-258)cAc>cCc	p.H86P	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.H86P	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	86						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGCAGGAAACACCAGCAGCAG	0.562																																						dbGAP											0													79.0	67.0	71.0					20																	31811746		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.257A>C	20.37:g.31811746A>C	ENSP00000364603:p.His86Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.H86P	ENST00000375454.3	37	c.257	CCDS13216.2	20	.	.	.	.	.	.	.	.	.	.	A	2.315	-0.357065	0.05138	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.05199	3.48;3.58	4.27	1.9	0.25705	.	0.997851	0.08110	N	0.996335	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B;B	0.29716	0.064;0.255	B;B	0.32677	0.065;0.15	T	0.44697	-0.9311	10	0.59425	D	0.04	-0.0064	3.8622	0.09001	0.1889:0.1023:0.0:0.7087	.	86;86	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	P	86	ENSP00000364603:H86P;ENSP00000364601:H86P	ENSP00000364601:H86P	H	+	2	0	BPIFA3	31275407	0.001000	0.12720	0.200000	0.23457	0.033000	0.12548	0.011000	0.13264	0.393000	0.25203	-0.302000	0.09304	CAC	BPIFA3	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000131059		0.562	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BPIFA3	HGNC	protein_coding	OTTHUMT00000078672.1	96	0.00	0	A	NM_178466		31811746	31811746	+1	no_errors	ENST00000375454	ensembl	human	known	69_37n	missense	134	14.01	22	SNP	0.224	C
BPIFA1	51297	genome.wustl.edu	37	20	31829904	31829904	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31829904A>C	ENST00000354297.4	+	7	780	c.709A>C	c.(709-711)Acc>Ccc	p.T237P	BPIFA1_ENST00000375413.4_Missense_Mutation_p.T237P|BPIFA1_ENST00000375422.2_Missense_Mutation_p.T237P	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	237					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										CTTGGACATCACCCTGGTGCA	0.562																																						dbGAP											0													130.0	94.0	106.0					20																	31829904		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.709A>C	20.37:g.31829904A>C	ENSP00000346251:p.Thr237Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.T237P	ENST00000354297.4	37	c.709	CCDS13217.1	20	.	.	.	.	.	.	.	.	.	.	a	14.71	2.616103	0.46631	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04603	3.59;3.59;3.59	5.31	4.2	0.49525	.	0.298284	0.29239	N	0.012740	T	0.13372	0.0324	M	0.65975	2.015	0.27550	N	0.950523	D	0.63880	0.993	P	0.58721	0.844	T	0.03344	-1.1046	10	0.42905	T	0.14	-11.7262	9.1899	0.37193	0.8166:0.1834:0.0:0.0	.	237	Q9NP55	BPIA1_HUMAN	P	237;237;237;223	ENSP00000364571:T237P;ENSP00000346251:T237P;ENSP00000364562:T237P	ENSP00000346251:T237P	T	+	1	0	BPIFA1	31293565	0.108000	0.22018	0.691000	0.30163	0.278000	0.26855	1.707000	0.37888	1.019000	0.39547	0.473000	0.43528	ACC	BPIFA1	-	superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000198183		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA1	HGNC	protein_coding	OTTHUMT00000078667.2	71	0.00	0	A	NM_130852		31829904	31829904	+1	no_errors	ENST00000354297	ensembl	human	known	69_37n	missense	75	21.88	21	SNP	0.897	C
BPIFB1	92747	genome.wustl.edu	37	20	31873928	31873928	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31873928A>C	ENST00000253354.1	+	2	210	c.49A>C	c.(49-51)Acc>Ccc	p.T17P		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	17					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCTGGCAGCCACCTTGATCCA	0.577																																						dbGAP											0													140.0	118.0	125.0					20																	31873928		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.49A>C	20.37:g.31873928A>C	ENSP00000253354:p.Thr17Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.T17P	ENST00000253354.1	37	c.49	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	a	7.728	0.698553	0.15106	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.33654	1.4;3.95	4.92	-1.5	0.08691	.	0.492482	0.20360	N	0.093872	T	0.26846	0.0657	L	0.52364	1.645	0.09310	N	1	B;B	0.31227	0.314;0.314	B;B	0.34038	0.174;0.174	T	0.20075	-1.0286	10	0.66056	D	0.02	-9.8125	4.1403	0.10189	0.4639:0.0:0.3722:0.1639	.	17;17	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	P	17	ENSP00000390471:T17P;ENSP00000253354:T17P	ENSP00000253354:T17P	T	+	1	0	BPIFB1	31337589	0.000000	0.05858	0.188000	0.23233	0.020000	0.10135	-0.828000	0.04419	-0.082000	0.12640	-0.253000	0.11424	ACC	BPIFB1	-	pirsf_PLUNC_long_form	ENSG00000125999		0.577	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	54	0.00	0	A	NM_033197		31873928	31873928	+1	no_errors	ENST00000253354	ensembl	human	known	69_37n	missense	91	18.42	21	SNP	0.013	C
BPIFB1	92747	genome.wustl.edu	37	20	31889111	31889111	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31889111A>C	ENST00000253354.1	+	9	981	c.820A>C	c.(820-822)Acc>Ccc	p.T274P	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	274					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GACAATGCCCACCCTGGACAA	0.537																																						dbGAP											0													160.0	126.0	137.0					20																	31889111		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.820A>C	20.37:g.31889111A>C	ENSP00000253354:p.Thr274Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.T274P	ENST00000253354.1	37	c.820	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	A	9.776	1.173891	0.21704	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.05139	3.49	5.2	-9.58	0.00559	.	2.039650	0.01808	N	0.033286	T	0.03263	0.0095	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.35724	-0.9777	10	0.28530	T	0.3	-3.7098	0.7693	0.01021	0.1794:0.3117:0.2038:0.3051	.	274	Q8TDL5	BPIB1_HUMAN	P	274;105	ENSP00000253354:T274P	ENSP00000253354:T274P	T	+	1	0	BPIFB1	31352772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.497000	0.00969	-2.333000	0.00631	-2.435000	0.00213	ACC	BPIFB1	-	superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form	ENSG00000125999		0.537	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	171	0.58	1	A	NM_033197		31889111	31889111	+1	no_errors	ENST00000253354	ensembl	human	known	69_37n	missense	128	12.33	18	SNP	0.000	C
BPIFB2	80341	genome.wustl.edu	37	20	31600644	31600644	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31600644A>C	ENST00000170150.3	+	4	434	c.239A>C	c.(238-240)cAc>cCc	p.H80P		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	80						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCCCGCCTCCACCTGAAATTC	0.527																																						dbGAP											0													194.0	185.0	188.0					20																	31600644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.239A>C	20.37:g.31600644A>C	ENSP00000170150:p.His80Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.H80P	ENST00000170150.3	37	c.239	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	A	7.105	0.574948	0.13623	.	.	ENSG00000078898	ENST00000170150	T	0.05447	3.44	4.41	0.531	0.17108	.	1.070760	0.07247	N	0.865213	T	0.04907	0.0132	N	0.24115	0.695	0.09310	N	1	B	0.30889	0.299	B	0.35278	0.199	T	0.47586	-0.9106	10	0.27082	T	0.32	-0.2851	3.6277	0.08119	0.5945:0.1937:0.2117:0.0	.	80	Q8N4F0	BPIB2_HUMAN	P	80	ENSP00000170150:H80P	ENSP00000170150:H80P	H	+	2	0	BPIFB2	31064305	0.000000	0.05858	0.035000	0.18076	0.087000	0.18053	0.350000	0.20079	0.297000	0.22615	0.533000	0.62120	CAC	BPIFB2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000078898		0.527	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	186	0.00	0	A	NM_025227		31600644	31600644	+1	no_errors	ENST00000170150	ensembl	human	known	69_37n	missense	120	15.49	22	SNP	0.026	C
BPIFB2	80341	genome.wustl.edu	37	20	31606539	31606539	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31606539A>C	ENST00000170150.3	+	9	961	c.766A>C	c.(766-768)Acc>Ccc	p.T256P		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	256						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTCCATGGCCACCGTGGGCCT	0.637																																						dbGAP											0													89.0	88.0	88.0					20																	31606539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.766A>C	20.37:g.31606539A>C	ENSP00000170150:p.Thr256Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.T256P	ENST00000170150.3	37	c.766	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138453	0.56936	.	.	ENSG00000078898	ENST00000170150	T	0.08634	3.07	5.22	4.1	0.47936	.	0.239018	0.29861	N	0.011019	T	0.19604	0.0471	M	0.63428	1.95	0.09310	N	1	D	0.56746	0.977	P	0.62298	0.9	T	0.03840	-1.0999	10	0.40728	T	0.16	-23.8805	8.4191	0.32690	0.8258:0.0:0.0:0.1742	.	256	Q8N4F0	BPIB2_HUMAN	P	256	ENSP00000170150:T256P	ENSP00000170150:T256P	T	+	1	0	BPIFB2	31070200	0.007000	0.16637	0.582000	0.28627	0.247000	0.25773	2.047000	0.41269	0.887000	0.36136	0.459000	0.35465	ACC	BPIFB2	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000078898		0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	138	0.71	1	A	NM_025227		31606539	31606539	+1	no_errors	ENST00000170150	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	0.096	C
BPIFB4	149954	genome.wustl.edu	37	20	31673933	31673933	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31673933A>C	ENST00000375483.3	+	5	889	c.889A>C	c.(889-891)Acc>Ccc	p.T297P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	297						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCGATGTGACACCCTCCTAGG	0.577																																						dbGAP											0													90.0	75.0	80.0					20																	31673933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.889A>C	20.37:g.31673933A>C	ENSP00000364632:p.Thr297Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDX6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T297P	ENST00000375483.3	37	c.889	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638359	0.67130	.	.	ENSG00000186191	ENST00000375483	T	0.06371	3.31	3.94	3.94	0.45596	.	0.166654	0.41396	D	0.000896	T	0.16685	0.0401	L	0.54323	1.7	0.33029	D	0.529895	D	0.76494	0.999	D	0.68483	0.958	T	0.07578	-1.0765	10	0.72032	D	0.01	-23.9012	9.1151	0.36753	1.0:0.0:0.0:0.0	.	297	P59827	BPIB4_HUMAN	P	297	ENSP00000364632:T297P	ENSP00000364632:T297P	T	+	1	0	BPIFB4	31137594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.520000	0.53465	1.649000	0.50652	0.402000	0.26972	ACC	BPIFB4	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186191		0.577	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	147	0.00	0	A	NM_182519		31673933	31673933	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	missense	155	16.67	31	SNP	1.000	C
BPIFB1	92747	genome.wustl.edu	37	20	31890869	31890869	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31890869A>C	ENST00000253354.1	+	11	1290	c.1129A>C	c.(1129-1131)Acc>Ccc	p.T377P	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	377					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCCTTTGTTCACCCTGGGCAT	0.522																																						dbGAP											0													105.0	86.0	93.0					20																	31890869		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1129A>C	20.37:g.31890869A>C	ENSP00000253354:p.Thr377Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.T377P	ENST00000253354.1	37	c.1129	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304811	0.40795	.	.	ENSG00000125999	ENST00000253354	T	0.08102	3.13	5.27	4.15	0.48705	.	0.085825	0.51477	D	0.000100	T	0.22551	0.0544	M	0.71581	2.175	0.28837	N	0.896828	D	0.76494	0.999	D	0.77004	0.989	T	0.04565	-1.0942	10	0.31617	T	0.26	-43.0097	7.9992	0.30286	0.8115:0.0:0.0:0.1885	.	377	Q8TDL5	BPIB1_HUMAN	P	377	ENSP00000253354:T377P	ENSP00000253354:T377P	T	+	1	0	BPIFB1	31354530	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	2.440000	0.44855	0.980000	0.38523	0.374000	0.22700	ACC	BPIFB1	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form	ENSG00000125999		0.522	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	154	0.64	1	A	NM_033197		31890869	31890869	+1	no_errors	ENST00000253354	ensembl	human	known	69_37n	missense	96	17.24	20	SNP	1.000	C
N4BP2L1	90634	genome.wustl.edu	37	13	32972493	32972493	+	IGR	SNP	A	A	C	rs11571832	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:32972493A>C	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Silent_p.P3281P|BRCA2_ENST00000380152.3_Silent_p.P3281P	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CTTTACCTCCACCTGTTAGTC	0.428																																						dbGAP											0													173.0	169.0	170.0					13																	32972493		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972493A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN21|Q5TBK0	Silent	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.P3281	ENST00000380130.2	37	c.9843	CCDS9345.2	13																																																																																			BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.428	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding		219	0.45	1	A	NM_052818		32972493	32972493	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	silent	247	11.15	31	SNP	0.966	C
BRD2	6046	genome.wustl.edu	37	6	32944106	32944106	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32944106A>C	ENST00000374825.4	+	6	2391	c.690A>C	c.(688-690)ccA>ccC	p.P230P	BRD2_ENST00000443797.2_Silent_p.P110P|BRD2_ENST00000374831.4_Silent_p.P230P|BRD2_ENST00000449085.2_Silent_p.P183P|BRD2_ENST00000395289.2_Silent_p.P230P|BRD2_ENST00000395287.1_Silent_p.P230P	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	230					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						ATACTCCTCCACCTGAGATAC	0.537																																						dbGAP											0													128.0	111.0	117.0					6																	32944106		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.690A>C	6.37:g.32944106A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.H236P	ENST00000374825.4	37	c.707	CCDS4762.1	6	.	.	.	.	.	.	.	.	.	.	A	9.048	0.991394	0.18966	.	.	ENSG00000204256	ENST00000456339;ENST00000449025	.	.	.	5.33	-1.93	0.07594	.	.	.	.	.	T	0.22205	0.0535	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30238	-0.9985	4	.	.	.	-7.9069	1.4799	0.02434	0.5137:0.1249:0.2237:0.1377	.	.	.	.	P	232;236	.	.	H	+	2	0	BRD2	33052084	0.016000	0.18221	0.993000	0.49108	0.986000	0.74619	-0.142000	0.10311	-0.356000	0.08187	-0.263000	0.10527	CAC	BRD2	-	NULL	ENSG00000204256		0.537	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	231	0.00	0	A			32944106	32944106	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000449025	ensembl	human	putative	69_37n	missense	163	18.50	37	SNP	0.988	C
BRD2	6046	genome.wustl.edu	37	6	32946109	32946109	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32946109T>G	ENST00000374825.4	+	10	3486	c.1785T>G	c.(1783-1785)ggT>ggG	p.G595G	BRD2_ENST00000443797.2_Silent_p.G475G|BRD2_ENST00000374831.4_Silent_p.G595G|BRD2_ENST00000449085.2_Silent_p.G548G|BRD2_ENST00000395289.2_Silent_p.G595G|BRD2_ENST00000395287.1_Silent_p.G595G	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	595					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GCAGTGGGGGTGGCAGTGCTG	0.562																																						dbGAP											0													151.0	157.0	155.0					6																	32946109		1510	2708	4218	-	-	-	SO:0001819	synonymous_variant	0			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1785T>G	6.37:g.32946109T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V601G	ENST00000374825.4	37	c.1802	CCDS4762.1	6	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400019	0.25291	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.17	2.74	0.32292	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.38760	D	0.954314	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	0.0857	3.6811	0.08310	0.1608:0.1763:0.0:0.6629	.	.	.	.	G	601	.	.	V	+	2	0	BRD2	33054087	0.020000	0.18652	0.963000	0.40424	0.971000	0.66376	-0.170000	0.09897	0.987000	0.38709	0.523000	0.50628	GTG	BRD2	-	NULL	ENSG00000204256		0.562	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	202	0.98	2	T			32946109	32946109	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000449025	ensembl	human	putative	69_37n	missense	132	15.82	25	SNP	0.558	G
BRPF1	7862	genome.wustl.edu	37	3	9775898	9775898	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:9775898T>G	ENST00000457855.1	+	1	85	c.74T>G	c.(73-75)gTg>gGg	p.V25G	BRPF1_ENST00000424362.1_Missense_Mutation_p.V25G|BRPF1_ENST00000302054.3_Missense_Mutation_p.V25G|BRPF1_ENST00000383829.2_Missense_Mutation_p.V25G|BRPF1_ENST00000433861.2_Missense_Mutation_p.V25G			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	25					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAGTGCCCGGTGGAGACCTGC	0.517																																						dbGAP											0													111.0	120.0	117.0					3																	9775898		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.74T>G	3.37:g.9775898T>G	ENSP00000410210:p.Val25Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain	p.V25G	ENST00000457855.1	37	c.74	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542397	0.65198	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.51817	2.18;2.17;3.56;2.17;0.69;2.17	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.127469	0.52532	D	0.000062	T	0.56877	0.2015	M	0.63843	1.955	0.80722	D	1	P;P;P;D	0.54772	0.899;0.944;0.944;0.968	P;P;P;P	0.50970	0.571;0.57;0.467;0.655	T	0.62258	-0.6892	10	0.87932	D	0	.	14.8007	0.69913	0.0:0.0:0.0:1.0	.	25;25;25;25	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	G	25	ENSP00000402485:V25G;ENSP00000398863:V25G;ENSP00000373340:V25G;ENSP00000306297:V25G;ENSP00000404235:V25G;ENSP00000410210:V25G	ENSP00000306297:V25G	V	+	2	0	BRPF1	9750898	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.283000	0.78640	2.142000	0.66516	0.460000	0.39030	GTG	BRPF1	-	pfscan_Znf_C2H2	ENSG00000156983		0.517	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	154	0.65	1	T	NM_001003694		9775898	9775898	+1	no_errors	ENST00000383829	ensembl	human	known	69_37n	missense	147	11.83	20	SNP	1.000	G
BRPF3	27154	genome.wustl.edu	37	6	36181706	36181706	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:36181706A>C	ENST00000357641.6	+	8	2785	c.2532A>C	c.(2530-2532)gcA>gcC	p.A844A	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Silent_p.A844A|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000339717.7_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	844					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGGGCCTGCACCTTCCTTGT	0.507																																						dbGAP											0													58.0	67.0	64.0					6																	36181706		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2532A>C	6.37:g.36181706A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	NULL	p.T55P	ENST00000357641.6	37	c.163	CCDS34437.1	6																																																																																			BRPF3	-	NULL	ENSG00000096070		0.507	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	227	0.87	2	A	NM_015695		36181706	36181706	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441730	ensembl	human	known	69_37n	missense	162	15.98	31	SNP	0.987	C
BRWD3	254065	genome.wustl.edu	37	X	79948515	79948515	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:79948515A>C	ENST00000373275.4	-	28	3403	c.3187T>G	c.(3187-3189)Tgg>Ggg	p.W1063G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1063					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCCAAACCACCAGGCGTCA	0.373																																						dbGAP											0													156.0	142.0	147.0					X																	79948515		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3187T>G	X.37:g.79948515A>C	ENSP00000362372:p.Trp1063Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.W1063G	ENST00000373275.4	37	c.3187	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001303	0.74818	.	.	ENSG00000165288	ENST00000373275	T	0.40225	1.04	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79422	-0.1810	9	.	.	.	-5.8468	13.8024	0.63208	1.0:0.0:0.0:0.0	.	1063	Q6RI45	BRWD3_HUMAN	G	1063	ENSP00000362372:W1063G	.	W	-	1	0	BRWD3	79835171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.761000	0.91691	1.833000	0.53350	0.486000	0.48141	TGG	BRWD3	-	NULL	ENSG00000165288		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	305	0.65	2	A	NM_153252		79948515	79948515	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	245	13.12	37	SNP	1.000	C
BRWD3	254065	genome.wustl.edu	37	X	79999579	79999579	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:79999579T>G	ENST00000373275.4	-	8	981	c.765A>C	c.(763-765)gcA>gcC	p.A255A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	255					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGCAACGGGTGCACAAGTTC	0.393																																						dbGAP											0													133.0	113.0	120.0					X																	79999579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.765A>C	X.37:g.79999579T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.A255	ENST00000373275.4	37	c.765	CCDS14447.1	X																																																																																			BRWD3	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	241	0.00	0	T	NM_153252		79999579	79999579	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	silent	213	16.73	43	SNP	1.000	G
BST1	683	genome.wustl.edu	37	4	15709185	15709185	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:15709185A>C	ENST00000265016.4	+	3	562	c.367A>C	c.(367-369)Acc>Ccc	p.T123P	BST1_ENST00000382346.3_Missense_Mutation_p.T138P	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	123					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TGCAGACAACACCCGTCGTTT	0.443																																						dbGAP											0													201.0	197.0	198.0					4																	15709185		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.367A>C	4.37:g.15709185A>C	ENSP00000265016:p.Thr123Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.T123P	ENST00000265016.4	37	c.367	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816067	0.32145	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.15017	2.46;2.46	5.53	-0.921	0.10472	NAD(P)-binding domain (1);	1.209250	0.05709	N	0.595605	T	0.26268	0.0641	L	0.53249	1.67	0.09310	N	1	D	0.57257	0.979	P	0.53185	0.72	T	0.38286	-0.9668	10	0.29301	T	0.29	-1.3746	9.493	0.38971	0.6012:0.0:0.3988:0.0	.	123	Q10588	BST1_HUMAN	P	123;138	ENSP00000265016:T123P;ENSP00000371783:T138P	ENSP00000265016:T123P	T	+	1	0	BST1	15318283	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-0.908000	0.04063	-0.256000	0.09473	0.533000	0.62120	ACC	BST1	-	pfam_ADP-ribosyl_cyclase	ENSG00000109743		0.443	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	302	0.33	1	A	NM_004334		15709185	15709185	+1	no_errors	ENST00000265016	ensembl	human	known	69_37n	missense	182	11.59	24	SNP	0.000	C
BTBD3	22903	genome.wustl.edu	37	20	11899026	11899026	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:11899026A>C	ENST00000405977.1	+	2	728	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.T35P|RP4-742J24.2_ENST00000439529.1_RNA	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	35					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAAAGCAAATACcagcagcag	0.408																																						dbGAP											0													168.0	176.0	174.0					20																	11899026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.103A>C	20.37:g.11899026A>C	ENSP00000384545:p.Thr35Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW19|Q5JY73	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.T35P	ENST00000405977.1	37	c.103	CCDS13113.1	20	.	.	.	.	.	.	.	.	.	.	A	2.549	-0.304603	0.05495	.	.	ENSG00000132640	ENST00000405977;ENST00000378226	T;T	0.78816	-1.21;-1.21	6.03	3.8	0.43715	.	0.688807	0.14937	N	0.289744	T	0.47377	0.1442	N	0.02011	-0.69	0.19575	N	0.999965	B	0.12013	0.005	B	0.04013	0.001	T	0.31888	-0.9927	10	0.28530	T	0.3	.	3.1209	0.06391	0.633:0.1569:0.0764:0.1338	.	35	Q9Y2F9	BTBD3_HUMAN	P	35	ENSP00000384545:T35P;ENSP00000367471:T35P	ENSP00000367471:T35P	T	+	1	0	BTBD3	11847026	0.824000	0.29247	0.024000	0.17045	0.312000	0.27988	1.600000	0.36762	0.554000	0.29061	0.533000	0.62120	ACC	BTBD3	-	NULL	ENSG00000132640		0.408	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD3	HGNC	protein_coding	OTTHUMT00000078021.3	320	0.00	0	A			11899026	11899026	+1	no_errors	ENST00000378226	ensembl	human	known	69_37n	missense	246	11.51	32	SNP	0.944	C
BTBD3	22903	genome.wustl.edu	37	20	11903365	11903365	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:11903365A>C	ENST00000405977.1	+	5	1245	c.620A>C	c.(619-621)cAc>cCc	p.H207P	BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000399006.2_Missense_Mutation_p.H146P|BTBD3_ENST00000254977.3_Missense_Mutation_p.H146P|BTBD3_ENST00000378226.2_Missense_Mutation_p.H207P	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	207					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ATTGTCCCTCACCTTGCCAGA	0.488																																						dbGAP											0													121.0	117.0	118.0					20																	11903365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.620A>C	20.37:g.11903365A>C	ENSP00000384545:p.His207Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW19|Q5JY73	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.H207P	ENST00000405977.1	37	c.620	CCDS13113.1	20	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417491	0.42918	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.95	5.95	0.96441	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74839	0.3769	L	0.43701	1.375	0.80722	D	1	D	0.57257	0.979	D	0.65573	0.936	T	0.73180	-0.4064	10	0.36615	T	0.2	.	15.6134	0.76744	1.0:0.0:0.0:0.0	.	207	Q9Y2F9	BTBD3_HUMAN	P	146;146;207;207;96;96	ENSP00000254977:H146P;ENSP00000381971:H146P;ENSP00000384545:H207P;ENSP00000367471:H207P;ENSP00000408817:H96P;ENSP00000404582:H96P	ENSP00000254977:H146P	H	+	2	0	BTBD3	11851365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.359000	0.79477	2.281000	0.76405	0.528000	0.53228	CAC	BTBD3	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000132640		0.488	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD3	HGNC	protein_coding	OTTHUMT00000078021.3	140	0.00	0	A			11903365	11903365	+1	no_errors	ENST00000378226	ensembl	human	known	69_37n	missense	124	11.97	17	SNP	1.000	C
BTN1A1	696	genome.wustl.edu	37	6	26509376	26509376	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:26509376A>C	ENST00000244513.6	+	7	1621	c.1555A>C	c.(1555-1557)Acc>Ccc	p.T519P		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	519						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCTAATCCCTACCCAACCCAG	0.527																																						dbGAP											0													88.0	94.0	92.0					6																	26509376		2203	4298	6501	-	-	-	SO:0001583	missense	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1555A>C	6.37:g.26509376A>C	ENSP00000244513:p.Thr519Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.T519P	ENST00000244513.6	37	c.1555	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	A	9.551	1.115971	0.20795	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.36878	1.23	5.41	-2.91	0.05631	.	1.131970	0.06556	N	0.745872	T	0.07773	0.0195	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.41619	0.361	T	0.08868	-1.0701	10	0.30078	T	0.28	.	1.5639	0.02600	0.2701:0.2556:0.3308:0.1435	.	519	Q13410	BT1A1_HUMAN	P	519;487	ENSP00000244513:T519P	ENSP00000244513:T519P	T	+	1	0	BTN1A1	26617355	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-1.083000	0.03397	-0.673000	0.05259	0.533000	0.62120	ACC	BTN1A1	-	NULL	ENSG00000124557		0.527	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1	159	0.62	1	A	NM_001732		26509376	26509376	+1	no_errors	ENST00000244513	ensembl	human	known	69_37n	missense	120	18.95	29	SNP	0.000	C
BTN3A1	11119	genome.wustl.edu	37	6	26413610	26413610	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:26413610T>G	ENST00000289361.6	+	10	1600	c.1232T>G	c.(1231-1233)gTg>gGg	p.V411G	BTN3A1_ENST00000414912.2_Missense_Mutation_p.V359G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CATATAGGGGTGTGCAGTAAG	0.468																																						dbGAP											0													162.0	167.0	166.0					6																	26413610		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1232T>G	6.37:g.26413610T>G	ENSP00000289361:p.Val411Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.V411G	ENST00000289361.6	37	c.1232	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	16.89	3.246549	0.59103	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.74632	-0.86;-0.86	2.31	2.31	0.28768	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.86213	0.5879	H	0.97829	4.085	0.47183	D	0.999341	D;D	0.89917	0.999;1.0	D;D	0.91635	0.975;0.999	D	0.84947	0.0869	9	0.87932	D	0	.	4.0764	0.09906	0.0:0.1725:0.0:0.8275	.	359;411	E9PGB4;O00481	.;BT3A1_HUMAN	G	411;359	ENSP00000289361:V411G;ENSP00000406667:V359G	ENSP00000289361:V411G	V	+	2	0	BTN3A1	26521589	0.946000	0.32159	0.038000	0.18304	0.341000	0.28922	3.084000	0.50143	1.287000	0.44583	0.496000	0.49642	GTG	BTN3A1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000026950		0.468	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	312	0.95	3	T			26413610	26413610	+1	no_errors	ENST00000289361	ensembl	human	known	69_37n	missense	270	13.14	41	SNP	0.962	G
BTN2A3P	54718	genome.wustl.edu	37	6	26431644	26431644	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:26431644T>G	ENST00000466808.2	+	0	1592							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											ATGCCTCTGGTGGAAGACACG	0.577																																						dbGAP											0													147.0	122.0	130.0					6																	26431644		2203	4300	6503	-	-	-			0			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431644T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF4	RNA	SNP	-	NULL	ENST00000466808.2	37	NULL		6																																																																																			BTN2A3P	-	-	ENSG00000124549		0.577	BTN2A3P-001	KNOWN	basic	processed_transcript	BTN2A3P	HGNC	pseudogene	OTTHUMT00000040118.4	199	0.00	0	T	NR_027795		26431644	26431644	+1	no_errors	ENST00000466808	ensembl	human	known	69_37n	rna	112	13.18	17	SNP	0.000	G
BTN1A1	696	genome.wustl.edu	37	6	26509396	26509396	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:26509396A>C	ENST00000244513.6	+	7	1641	c.1575A>C	c.(1573-1575)gcA>gcC	p.A525A		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	525						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCCAAGGGGCACCTTAAGGAA	0.522																																						dbGAP											0													77.0	82.0	80.0					6																	26509396		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1575A>C	6.37:g.26509396A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.A525	ENST00000244513.6	37	c.1575	CCDS4614.1	6																																																																																			BTN1A1	-	NULL	ENSG00000124557		0.522	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1	143	0.00	0	A	NM_001732		26509396	26509396	+1	no_errors	ENST00000244513	ensembl	human	known	69_37n	silent	127	14.77	22	SNP	0.001	C
BTNL2	56244	genome.wustl.edu	37	6	32374896	32374896	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32374896A>C	ENST00000374993.1	-	1	4	c.5T>G	c.(4-6)gTg>gGg	p.V2G	BTNL2_ENST00000429232.2_Missense_Mutation_p.V2G|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Missense_Mutation_p.V2G|BTNL2_ENST00000540315.1_Missense_Mutation_p.V2G|BTNL2_ENST00000454136.3_Missense_Mutation_p.V2G|BTNL2_ENST00000414363.1_Missense_Mutation_p.V2G	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	2						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGGAAAATCCACCATCCTCCC	0.507																																						dbGAP											0													150.0	123.0	133.0					6																	32374896		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.5T>G	6.37:g.32374896A>C	ENSP00000364132:p.Val2Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.V2G	ENST00000374993.1	37	c.5		6	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711739	0.30322	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000429232;ENST00000446536	T;T;T;T;T;T	0.19250	4.12;4.17;3.71;4.14;2.93;2.16	5.04	3.87	0.44632	.	0.424638	0.17418	N	0.174933	T	0.16471	0.0396	M	0.73217	2.22	0.44409	D	0.997321	P;D	0.53619	0.893;0.961	P;P	0.47981	0.563;0.454	T	0.02282	-1.1183	10	0.51188	T	0.08	.	7.6477	0.28329	0.9022:0.0:0.0978:0.0	.	2;2	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	G	2	ENSP00000364134:V2G;ENSP00000390512:V2G;ENSP00000364132:V2G;ENSP00000444714:V2G;ENSP00000411166:V2G;ENSP00000388434:V2G	ENSP00000364132:V2G	V	-	2	0	BTNL2	32482874	0.708000	0.27876	0.997000	0.53966	0.207000	0.24258	1.041000	0.30291	0.895000	0.36342	0.514000	0.50259	GTG	BTNL2	-	NULL	ENSG00000204290		0.507	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	BTNL2	HGNC	protein_coding		107	0.00	0	A	NM_019602		32374896	32374896	-1	no_errors	ENST00000468270	ensembl	human	known	69_37n	missense	117	16.90	24	SNP	0.996	C
BUB1B	701	genome.wustl.edu	37	15	40462774	40462774	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:40462774T>G	ENST00000287598.6	+	4	471	c.276T>G	c.(274-276)ggT>ggG	p.G92G	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Silent_p.G106G	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	92	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATCCTCAAGGTGGGAAGGAGA	0.378			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													dbGAP	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													108.0	103.0	104.0					15																	40462774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.276T>G	15.37:g.40462774T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	-	NULL	ENST00000287598.6	37	c.NULL	CCDS10053.1	15																																																																																			BUB1B	-	-	ENSG00000156970		0.378	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	157	0.00	0	T			40462774	40462774	+1	no_errors	ENST00000559414	ensembl	human	known	69_37n	splice_site	132	15.38	24	SNP	0.024	G
CCDC7	79741	genome.wustl.edu	37	10	33134844	33134844	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:33134844T>G	ENST00000375030.2	+	17	1785	c.1167T>G	c.(1165-1167)ggT>ggG	p.G389G	C10orf68_ENST00000375028.3_Silent_p.G434G|C10orf68_ENST00000375025.4_Silent_p.G494G			Q9H943	CJ068_HUMAN		430										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTGGAAGAGGTATAATAATAG	0.323																																						dbGAP											0													81.0	96.0	91.0					10																	33134844		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000375030.2:c.1167T>G	10.37:g.33134844T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	NULL	p.G494	ENST00000375030.2	37	c.1482		10																																																																																			C10orf68	-	NULL	ENSG00000150076		0.323	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	250	0.00	0	T			33134844	33134844	+1	no_errors	ENST00000375025	ensembl	human	known	69_37n	silent	176	15.71	33	SNP	0.001	G
CCDC7	79741	genome.wustl.edu	37	10	33140831	33140831	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:33140831A>C	ENST00000375030.2	+	21	2216	c.1598A>C	c.(1597-1599)cAc>cCc	p.H533P	C10orf68_ENST00000375028.3_Missense_Mutation_p.H578P|C10orf68_ENST00000375025.4_Missense_Mutation_p.H638P			Q9H943	CJ068_HUMAN		574										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAAGACATCCACCTTCCTTTA	0.333																																						dbGAP											0													140.0	153.0	149.0					10																	33140831		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000375030.2:c.1598A>C	10.37:g.33140831A>C	ENSP00000364170:p.His533Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.H638P	ENST00000375030.2	37	c.1913		10	.	.	.	.	.	.	.	.	.	.	.	7.774	0.707999	0.15239	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.29917	1.57;1.55;1.55;1.55	3.17	0.867	0.19085	.	.	.	.	.	T	0.22975	0.0555	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.24799	-1.0150	9	0.72032	D	0.01	.	7.7834	0.29078	0.4541:0.5459:0.0:0.0	.	555;574;578;533	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	P	574;533;578;638;550	ENSP00000303710:H574P;ENSP00000364170:H533P;ENSP00000364168:H578P;ENSP00000364165:H638P	ENSP00000303710:H574P	H	+	2	0	C10orf68	33180837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.176000	0.16782	0.178000	0.19917	0.528000	0.53228	CAC	C10orf68	-	NULL	ENSG00000150076		0.333	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	361	0.00	0	A			33140831	33140831	+1	no_errors	ENST00000375025	ensembl	human	known	69_37n	missense	265	13.92	43	SNP	0.000	C
C10orf76	79591	genome.wustl.edu	37	10	103792928	103792928	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:103792928A>C	ENST00000370033.4	-	4	280	c.161T>G	c.(160-162)gTg>gGg	p.V54G	C10orf76_ENST00000311122.5_Splice_Site_p.V54G	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	54						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CTCTAAATTCACCTGCCAAGG	0.403																																						dbGAP											0													109.0	99.0	102.0					10																	103792928		1867	4122	5989	-	-	-	SO:0001630	splice_region_variant	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.160-1T>G	10.37:g.103792928A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.V54G	ENST00000370033.4	37	c.161	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772612	0.90108	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.20200	2.09;2.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	M	0.65498	2.005	0.80722	D	1	P;D	0.89917	0.944;1.0	B;D	0.87578	0.391;0.998	T	0.41928	-0.9481	10	0.72032	D	0.01	-17.5481	16.8222	0.85835	1.0:0.0:0.0:0.0	.	54;54	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	G	54	ENSP00000359050:V54G;ENSP00000312408:V54G	ENSP00000312408:V54G	V	-	2	0	C10orf76	103782918	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.340000	0.79292	2.371000	0.80710	0.533000	0.62120	GTG	C10orf76	-	NULL	ENSG00000120029		0.403	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	172	0.57	1	A	NM_024541	Missense_Mutation	103792928	103792928	-1	no_errors	ENST00000370033	ensembl	human	known	69_37n	missense	92	19.13	22	SNP	1.000	C
C11orf58	10944	genome.wustl.edu	37	11	16776441	16776441	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:16776441T>G	ENST00000228136.4	+	5	720	c.342T>G	c.(340-342)ggT>ggG	p.G114G	C11orf58_ENST00000525684.1_3'UTR|C11orf58_ENST00000422258.2_Silent_p.G70G			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	114	Asp-rich.									NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						ATGGAGAAGGTGATGTGGCTG	0.393																																						dbGAP											0													74.0	69.0	70.0					11																	16776441		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.342T>G	11.37:g.16776441T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD28	Silent	SNP	NULL	p.G114	ENST00000228136.4	37	c.342	CCDS7822.1	11																																																																																			C11orf58	-	NULL	ENSG00000110696		0.393	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf58	HGNC	protein_coding	OTTHUMT00000387023.2	151	0.65	1	T	NM_014267		16776441	16776441	+1	no_errors	ENST00000228136	ensembl	human	known	69_37n	silent	137	12.74	20	SNP	1.000	G
COLCA1	399948	genome.wustl.edu	37	11	111167049	111167049	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:111167049A>C	ENST00000532918.1	-	2	2560	c.155T>G	c.(154-156)gTg>gGg	p.V52G	COLCA1_ENST00000355430.4_Missense_Mutation_p.V52G|COLCA2_ENST00000398035.2_5'Flank|COLCA1_ENST00000540738.1_Missense_Mutation_p.V52G|COLCA1_ENST00000526150.1_5'Flank			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	52						integral component of membrane (GO:0016021)|membrane (GO:0016020)											CTCCCCTCTCACCCAGCCTGG	0.552																																						dbGAP											0													99.0	73.0	82.0					11																	111167049		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.155T>G	11.37:g.111167049A>C	ENSP00000437253:p.Val52Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V52G	ENST00000532918.1	37	c.155		11	.	.	.	.	.	.	.	.	.	.	A	11.78	1.741813	0.30865	.	.	ENSG00000196167	ENST00000532918;ENST00000355430;ENST00000540738	.	.	.	3.99	-1.42	0.08913	.	.	.	.	.	T	0.30135	0.0755	.	.	.	0.09310	N	1	P	0.46512	0.879	P	0.45449	0.481	T	0.19418	-1.0306	7	0.87932	D	0	.	3.1793	0.06579	0.4884:0.0:0.328:0.1836	.	52	Q6ZS62	CK092_HUMAN	G	52	.	ENSP00000347601:V52G	V	-	2	0	C11orf92	110672259	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.617000	0.05584	-0.372000	0.07992	0.459000	0.35465	GTG	C11orf92	-	NULL	ENSG00000196167		0.552	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	C11orf92	HGNC	protein_coding	OTTHUMT00000390999.1	64	0.00	0	A			111167049	111167049	-1	no_errors	ENST00000355430	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.000	C
C12orf36	283422	genome.wustl.edu	37	12	13526228	13526228	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:13526228A>C	ENST00000318426.2	-	3	544	c.327T>G	c.(325-327)agT>agG	p.S109R	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.S109R					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		CCGTCTGTCCACTCTTCAGCC	0.483																																						dbGAP											0													224.0	213.0	217.0					12																	13526228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.327T>G	12.37:g.13526228A>C	ENSP00000443007:p.Ser109Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S109R	ENST00000318426.2	37	c.327		12	.	.	.	.	.	.	.	.	.	.	A	5.572	0.290397	0.10567	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.29397	1.57;1.57	3.26	-3.86	0.04230	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	P	0.41910	0.764	B	0.39094	0.29	T	0.15263	-1.0443	8	0.87932	D	0	.	5.4455	0.16533	0.2796:0.5052:0.2152:0.0	.	109	Q495D7	CL036_HUMAN	R	109	ENSP00000443007:S109R;ENSP00000443346:S109R	ENSP00000443007:S109R	S	-	3	2	C12orf36	13417495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.422000	0.02453	-0.825000	0.04290	-1.106000	0.02097	AGT	C12orf36	-	NULL	ENSG00000180861		0.483	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	211	0.00	0	A	NM_182558		13526228	13526228	-1	no_errors	ENST00000318426	ensembl	human	known	69_37n	missense	229	10.20	26	SNP	0.000	C
C12orf10	60314	genome.wustl.edu	37	12	53699825	53699825	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53699825A>C	ENST00000267103.5	+	4	675	c.623A>C	c.(622-624)cAc>cCc	p.H208P	C12orf10_ENST00000548632.1_Intron|C12orf10_ENST00000549488.1_Missense_Mutation_p.H45P	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	208					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ACCTGGAACCACCCCGACCAA	0.577																																						dbGAP											0													143.0	129.0	134.0					12																	53699825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.623A>C	12.37:g.53699825A>C	ENSP00000267103:p.His208Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Met-dep_prot_hydro	p.H45P	ENST00000267103.5	37	c.134	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	A	12.38	1.921317	0.33908	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000549488	T;T	0.41400	1.0;1.0	5.07	5.07	0.68467	.	0.435737	0.28766	N	0.014211	T	0.24431	0.0592	N	0.08118	0	0.21527	N	0.99965	B	0.02656	0.0	B	0.04013	0.001	T	0.19712	-1.0297	10	0.72032	D	0.01	-20.3037	11.4172	0.49960	1.0:0.0:0.0:0.0	.	208	Q9HB07	MYG1_HUMAN	P	208;93;45	ENSP00000267103:H208P;ENSP00000448433:H45P	ENSP00000267103:H208P	H	+	2	0	C12orf10	51986092	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	6.784000	0.75084	2.274000	0.75844	0.533000	0.62120	CAC	C12orf10	-	pfam_Met-dep_prot_hydro	ENSG00000139637		0.577	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	HGNC	protein_coding	OTTHUMT00000406906.1	66	0.00	0	A	NM_021640		53699825	53699825	+1	no_errors	ENST00000549488	ensembl	human	putative	69_37n	missense	114	16.79	23	SNP	1.000	C
C14orf93	60686	genome.wustl.edu	37	14	23467939	23467939	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:23467939A>C	ENST00000299088.6	-	2	723	c.294T>G	c.(292-294)ggT>ggG	p.G98G	C14orf93_ENST00000397379.3_Silent_p.G98G|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Silent_p.G98G|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397377.1_5'UTR|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.G98G|C14orf93_ENST00000397382.4_Silent_p.G98G	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	98						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCTCAGGTCACCCACTTCCT	0.567																																						dbGAP											0													63.0	59.0	60.0					14																	23467939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.294T>G	14.37:g.23467939A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	NULL	p.G98	ENST00000299088.6	37	c.294	CCDS9583.1	14																																																																																			C14orf93	-	NULL	ENSG00000100802		0.567	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	41	0.00	0	A	NM_021944		23467939	23467939	-1	no_errors	ENST00000299088	ensembl	human	known	69_37n	silent	59	18.06	13	SNP	0.993	C
ELMSAN1	91748	genome.wustl.edu	37	14	74203939	74203939	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74203939A>C	ENST00000286523.5	-	3	2293	c.1511T>G	c.(1510-1512)gTg>gGg	p.V504G	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V504G	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										AGAAAACTCCACCCCACACTT	0.507																																						dbGAP											0													102.0	90.0	94.0					14																	74203939		2203	4300	6503	-	-	-	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1511T>G	14.37:g.74203939A>C	ENSP00000286523:p.Val504Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.V504G	ENST00000286523.5	37	c.1511	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147919	0.57151	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.24	2.78	0.32641	.	0.096199	0.44097	N	0.000483	T	0.12135	0.0295	L	0.29908	0.895	0.53005	D	0.999961	B;B	0.29188	0.236;0.024	B;B	0.27608	0.081;0.012	T	0.10965	-1.0607	10	0.35671	T	0.21	-10.9303	10.8871	0.46972	0.6971:0.3029:0.0:0.0	.	504;504	A0PJD3;Q6PJG2	.;CN043_HUMAN	G	504	ENSP00000377634:V504G;ENSP00000286523:V504G;ENSP00000407767:V504G;ENSP00000402380:V504G	ENSP00000286523:V504G	V	-	2	0	C14orf43	73273692	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.177000	0.58276	0.409000	0.25649	0.533000	0.62120	GTG	C14orf43	-	NULL	ENSG00000156030		0.507	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	42	0.00	0	A	NM_194278		74203939	74203939	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	missense	26	28.21	11	SNP	1.000	C
ELMSAN1	91748	genome.wustl.edu	37	14	74206010	74206010	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74206010T>G	ENST00000286523.5	-	2	1484	c.702A>C	c.(700-702)ccA>ccC	p.P234P	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.P234P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	234	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TTGGGGGCGGTGGGCCCTGCC	0.657																																						dbGAP											0													24.0	27.0	26.0					14																	74206010		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.702A>C	14.37:g.74206010T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.P234	ENST00000286523.5	37	c.702	CCDS9819.1	14																																																																																			C14orf43	-	NULL	ENSG00000156030		0.657	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	24	0.00	0	T	NM_194278		74206010	74206010	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	silent	9	35.71	5	SNP	0.011	G
C14orf177	283598	genome.wustl.edu	37	14	99182639	99182639	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:99182639T>G	ENST00000325812.2	+	3	530	c.111T>G	c.(109-111)ggT>ggG	p.G37G		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	37										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCCAACTTGGTGAAGGGAAAT	0.557																																						dbGAP											0													136.0	98.0	111.0					14																	99182639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.111T>G	14.37:g.99182639T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7D2	Silent	SNP	NULL	p.G37	ENST00000325812.2	37	c.111	CCDS9948.1	14																																																																																			C14orf177	-	NULL	ENSG00000176605		0.557	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf177	HGNC	protein_coding	OTTHUMT00000396078.1	41	0.00	0	T	NM_182560		99182639	99182639	+1	no_errors	ENST00000325812	ensembl	human	known	69_37n	silent	36	13.95	6	SNP	0.000	G
C15orf54	400360	genome.wustl.edu	37	15	39544369	39544369	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:39544369T>G	ENST00000318578.3	+	2	401	c.33T>G	c.(31-33)ggT>ggG	p.G11G	C15orf54_ENST00000561223.1_Silent_p.G11G|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	11										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GCAAGCACGGTGGCAGGAGAC	0.473																																						dbGAP											0													141.0	145.0	144.0					15																	39544369		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.33T>G	15.37:g.39544369T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVZ9	Silent	SNP	NULL	p.G11	ENST00000318578.3	37	c.33	CCDS10049.1	15																																																																																			C15orf54	-	NULL	ENSG00000175746		0.473	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf54	HGNC	protein_coding	OTTHUMT00000252083.1	309	0.32	1	T	NM_207445		39544369	39544369	+1	no_errors	ENST00000318578	ensembl	human	known	69_37n	silent	303	12.89	45	SNP	0.373	G
ARPIN	348110	genome.wustl.edu	37	15	90446510	90446510	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:90446510A>C	ENST00000357484.5	-	5	730	c.610T>G	c.(610-612)Tgt>Ggt	p.C204G	C15orf38_ENST00000460685.1_Missense_Mutation_p.C108G|C15orf38-AP3S2_ENST00000560224.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.C204G	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		204					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CCCTTCGAACACTTTTGGGCC	0.547																																						dbGAP											0													163.0	168.0	166.0					15																	90446510		2032	4173	6205	-	-	-	SO:0001583	missense	0																														ENST00000357484.5:c.610T>G	15.37:g.90446510A>C	ENSP00000350075:p.Cys204Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E2QRD5	Missense_Mutation	SNP	pfam_UPF0552	p.C204G	ENST00000357484.5	37	c.610	CCDS42080.1	15	.	.	.	.	.	.	.	.	.	.	A	7.731	0.699308	0.15106	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.41065	1.01	5.73	1.96	0.26148	.	0.153604	0.43919	U	0.000515	T	0.15998	0.0385	N	0.03608	-0.345	0.23632	N	0.997248	B;B	0.06786	0.0;0.001	B;B	0.11329	0.0;0.006	T	0.12451	-1.0547	10	0.44086	T	0.13	-7.6832	2.302	0.04164	0.5992:0.1614:0.0845:0.1548	.	204;204	Q7Z6K5;E2QRD5	CO038_HUMAN;.	G	204	ENSP00000381377:C204G	ENSP00000381377:C204G	C	-	1	0	C15orf38-AP3S2;C15orf38	88247514	1.000000	0.71417	0.853000	0.33588	0.304000	0.27724	0.699000	0.25586	0.063000	0.16370	0.533000	0.62120	TGT	C15orf38	-	pfam_UPF0552	ENSG00000242498		0.547	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf38	HGNC	protein_coding	OTTHUMT00000335629.1	168	0.59	1	A			90446510	90446510	-1	no_errors	ENST00000357484	ensembl	human	known	69_37n	missense	251	10.25	29	SNP	0.997	C
C16orf70	80262	genome.wustl.edu	37	16	67168336	67168336	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67168336A>C	ENST00000219139.3	+	8	815	c.627A>C	c.(625-627)ggA>ggC	p.G209G	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.G209G	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	209										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGGAACTGGACCTGCAGGTT	0.502																																						dbGAP											0													258.0	236.0	243.0					16																	67168336		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.627A>C	16.37:g.67168336A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HA86	Silent	SNP	pfam_UPF0183	p.G209	ENST00000219139.3	37	c.627	CCDS10828.1	16																																																																																			C16orf70	-	pfam_UPF0183	ENSG00000125149		0.502	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2	118	0.00	0	A	NM_025187		67168336	67168336	+1	no_errors	ENST00000219139	ensembl	human	known	69_37n	silent	77	16.84	16	SNP	1.000	C
C16orf46	123775	genome.wustl.edu	37	16	81095734	81095734	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:81095734A>C	ENST00000299578.5	-	4	455	c.220T>G	c.(220-222)Tgg>Ggg	p.W74G	C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.W74G	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GTCCTTCCCCACCCTTGGACC	0.542																																						dbGAP											0													84.0	82.0	83.0					16																	81095734		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.220T>G	16.37:g.81095734A>C	ENSP00000299578:p.Trp74Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MA7	Missense_Mutation	SNP	NULL	p.W74G	ENST00000299578.5	37	c.220	CCDS10932.1	16	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809324	0.31961	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.37058	1.22;1.22	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000030	T	0.49949	0.1587	L	0.36672	1.1	0.44462	D	0.997394	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.52155	-0.8613	10	0.87932	D	0	.	13.3039	0.60340	1.0:0.0:0.0:0.0	.	74;74	Q6P387-2;Q6P387	.;CP046_HUMAN	G	74	ENSP00000367874:W74G;ENSP00000299578:W74G	ENSP00000299578:W74G	W	-	1	0	C16orf46	79653235	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	4.968000	0.63728	2.124000	0.65301	0.460000	0.39030	TGG	C16orf46	-	NULL	ENSG00000166455		0.542	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C16orf46	HGNC	protein_coding	OTTHUMT00000269054.2	103	0.96	1	A	NM_152337		81095734	81095734	-1	no_errors	ENST00000299578	ensembl	human	known	69_37n	missense	112	20.00	28	SNP	1.000	C
TMEM256	254863	genome.wustl.edu	37	17	7306423	7306423	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7306423T>G	ENST00000302422.3	-	4	356	c.304A>C	c.(304-306)Acc>Ccc	p.T102P	TMEM256-PLSCR3_ENST00000535512.1_Intron|C17orf61-PLSCR3_ENST00000573331.1_Intron|NLGN2_ENST00000575301.1_5'Flank	NM_152766.3	NP_689979.1	Q8N2U0	TM256_HUMAN	transmembrane protein 256	102						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGTAGCAGGGTCCCTCCCGCA	0.502																																						dbGAP											0													48.0	53.0	51.0					17																	7306423		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030270	CCDS11102.1	17p13.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000205544	ENSG00000205544			28618	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 61"""	C17orf61		12477932	Standard	NM_152766		Approved	MGC40107	uc002ggs.3	Q8N2U0	OTTHUMG00000132900	ENST00000302422.3:c.304A>C	17.37:g.7306423T>G	ENSP00000301939:p.Thr102Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF423	p.T102P	ENST00000302422.3	37	c.304	CCDS11102.1	17	.	.	.	.	.	.	.	.	.	.	T	15.79	2.935934	0.52972	.	.	ENSG00000205544	ENST00000302422	.	.	.	5.42	4.31	0.51392	.	0.265542	0.41938	D	0.000796	T	0.41696	0.1170	L	0.57536	1.79	0.25933	N	0.982972	B	0.22909	0.077	B	0.26614	0.071	T	0.33650	-0.9860	9	0.42905	T	0.14	-10.7559	7.2059	0.25907	0.249:0.0:0.0:0.751	.	102	Q8N2U0	CQ061_HUMAN	P	102	.	ENSP00000301939:T102P	T	-	1	0	C17orf61	7247147	0.998000	0.40836	0.993000	0.49108	0.571000	0.35966	0.756000	0.26419	2.053000	0.61076	0.358000	0.22013	ACC	C17orf61	-	pfam_DUF423	ENSG00000205544		0.502	TMEM256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf61	HGNC	protein_coding	OTTHUMT00000256404.1	86	0.00	0	T	NM_152766		7306423	7306423	-1	no_errors	ENST00000302422	ensembl	human	known	69_37n	missense	44	22.03	13	SNP	0.990	G
LDLRAD4	753	genome.wustl.edu	37	18	13645425	13645425	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:13645425A>C	ENST00000359446.5	+	6	1158	c.690A>C	c.(688-690)ccA>ccC	p.P230P	LDLRAD4_ENST00000587757.1_Silent_p.P193P|LDLRAD4_ENST00000592991.1_Silent_p.P132P|LDLRAD4_ENST00000361205.4_Silent_p.P230P|LDLRAD4_ENST00000585931.1_Silent_p.P153P|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Silent_p.P212P|LDLRAD4_ENST00000586765.1_Silent_p.P175P	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	230					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GTCCATGCCCACCCAGCAGCA	0.577																																						dbGAP											0													67.0	73.0	71.0					18																	13645425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.690A>C	18.37:g.13645425A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.P230	ENST00000359446.5	37	c.690	CCDS32793.1	18																																																																																			C18orf1	-	NULL	ENSG00000168675		0.577	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf1	HGNC	protein_coding	OTTHUMT00000458326.1	80	0.00	0	A	NM_181481		13645425	13645425	+1	no_errors	ENST00000359446	ensembl	human	known	69_37n	silent	50	23.08	15	SNP	0.872	C
CCDC178	374864	genome.wustl.edu	37	18	30554590	30554590	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:30554590A>C	ENST00000383096.3	-	22	2626	c.2444T>G	c.(2443-2445)gTg>gGg	p.V815G	CCDC178_ENST00000300227.8_Missense_Mutation_p.V777G|CCDC178_ENST00000403303.1_Missense_Mutation_p.V815G|CCDC178_ENST00000406524.2_Missense_Mutation_p.V839G|CCDC178_ENST00000581852.1_Missense_Mutation_p.V20G|CCDC178_ENST00000402325.1_Missense_Mutation_p.V765G|CCDC178_ENST00000583930.1_Missense_Mutation_p.V839G|CCDC178_ENST00000579947.1_Missense_Mutation_p.V815G|CCDC178_ENST00000579916.1_Missense_Mutation_p.V135G			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	815																	GAAGAGGACCACCAGTTTGAA	0.507																																						dbGAP											0													61.0	55.0	57.0					18																	30554590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2444T>G	18.37:g.30554590A>C	ENSP00000372576:p.Val815Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.V839G	ENST00000383096.3	37	c.2516	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	A	10.04	1.240677	0.22711	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.15487	2.48;2.48;2.49;2.42;2.48	5.5	3.03	0.35002	.	.	.	.	.	T	0.23492	0.0568	L	0.36672	1.1	0.43637	D	0.996031	D;D;D;D;D;D	0.69078	0.997;0.974;0.997;0.997;0.997;0.997	D;P;P;D;D;D	0.63793	0.918;0.719;0.899;0.918;0.918;0.918	T	0.01259	-1.1403	9	0.40728	T	0.16	-5.3349	6.2597	0.20893	0.4941:0.3759:0.0:0.13	.	839;815;765;815;777;815	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	G	815;815;777;839;765	ENSP00000385591:V815G;ENSP00000372576:V815G;ENSP00000300227:V777G;ENSP00000385867:V839G;ENSP00000385234:V765G	ENSP00000300227:V777G	V	-	2	0	C18orf34	28808588	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.311000	0.51919	2.084000	0.62774	0.460000	0.39030	GTG	C18orf34	-	NULL	ENSG00000166960		0.507	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	HGNC	protein_coding	OTTHUMT00000255373.2	28	0.00	0	A	NM_198995		30554590	30554590	-1	no_errors	ENST00000406524	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	1.000	C
C1GALT1C1	29071	genome.wustl.edu	37	X	119760467	119760467	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:119760467T>C	ENST00000304661.5	-	2	793	c.555A>G	c.(553-555)ggA>ggG	p.G185G	C1GALT1C1_ENST00000371313.2_Silent_p.G185G	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	185					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AGACAATTCCTCCTTCCATAC	0.373																																						dbGAP											0													91.0	83.0	86.0					X																	119760467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.555A>G	X.37:g.119760467T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K246|Q8WWS3|Q9NZX1	Silent	SNP	NULL	p.G185	ENST00000304661.5	37	c.555	CCDS14602.1	X																																																																																			C1GALT1C1	-	NULL	ENSG00000171155		0.373	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	191	0.00	0	T	NM_152692		119760467	119760467	-1	no_errors	ENST00000304661	ensembl	human	known	69_37n	silent	133	16.25	26	SNP	1.000	C
C1orf127	148345	genome.wustl.edu	37	1	11024285	11024285	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:11024285A>C	ENST00000377008.4	-	0	415				C1orf127_ENST00000377004.4_Missense_Mutation_p.V139G			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CAACCCCATCACCCCTTTCTG	0.463																																						dbGAP											0													93.0	84.0	87.0					1																	11024285		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.-32T>G	1.37:g.11024285A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.V139G	ENST00000377008.4	37	c.416		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.469|8.469	0.857160|0.857160	0.17106|0.17106	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004|ENST00000520253	T|.	0.25579|.	1.79|.	4.35|4.35	0.774|0.774	0.18521|0.18521	.|.	.|.	.|.	.|.	.|.	T|.	0.16642|.	0.0400|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999994|0.999994	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29366|.	-1.0014|.	6|.	.|.	.|.	.|.	.|.	6.6907|6.6907	0.23169|0.23169	0.5343:0.0:0.4657:0.0|0.5343:0.0:0.4657:0.0	.|.	.|.	.|.	.|.	G|G	139|117	ENSP00000366203:V139G|.	.|.	V|X	-|-	2|1	0|0	C1orf127|C1orf127	10946872|10946872	0.018000|0.018000	0.18449|0.18449	0.267000|0.267000	0.24556|0.24556	0.187000|0.187000	0.23431|0.23431	1.528000|1.528000	0.35985|0.35985	0.120000|0.120000	0.18254|0.18254	-0.441000|-0.441000	0.05720|0.05720	GTG|TGA	C1orf127	-	NULL	ENSG00000175262		0.463	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		38	0.00	0	A	NM_173507		11024285	11024285	-1	no_errors	ENST00000377004	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	0.016	C
C1QB	713	genome.wustl.edu	37	1	22987414	22987414	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:22987414T>G	ENST00000314933.6	+	3	429	c.297T>G	c.(295-297)ggT>ggG	p.G99G	C1QB_ENST00000509305.1_Silent_p.G97G	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	99	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCCTAAAGGTGGCCCAGGGG	0.617																																						dbGAP											0													39.0	44.0	42.0					1																	22987414		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.297T>G	1.37:g.22987414T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T959|Q96H17	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G99	ENST00000314933.6	37	c.297	CCDS228.1	1																																																																																			C1QB	-	pfam_Collagen	ENSG00000173369		0.617	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding		227	0.87	2	T	NM_000491		22987414	22987414	+1	no_errors	ENST00000314933	ensembl	human	known	69_37n	silent	195	13.91	32	SNP	0.004	G
ERICH3	127254	genome.wustl.edu	37	1	75037161	75037161	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:75037161A>C	ENST00000326665.5	-	14	4451	c.4233T>G	c.(4231-4233)agT>agG	p.S1411R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1411	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTCCCCACTCCGTGCTA	0.547																																						dbGAP											0													97.0	97.0	97.0					1																	75037161		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000326665.5:c.4233T>G	1.37:g.75037161A>C	ENSP00000322609:p.Ser1411Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.S1411R	ENST00000326665.5	37	c.4233	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	A	8.955	0.969190	0.18659	.	.	ENSG00000178965	ENST00000326665	T	0.11604	2.76	4.58	-9.16	0.00694	.	.	.	.	.	T	0.01029	0.0034	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45716	-0.9242	9	0.11182	T	0.66	0.7221	0.8592	0.01189	0.3444:0.294:0.1246:0.237	.	1411	Q5RHP9	CA173_HUMAN	R	1411	ENSP00000322609:S1411R	ENSP00000322609:S1411R	S	-	3	2	C1orf173	74809749	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.634000	0.05477	-1.451000	0.01933	-0.366000	0.07423	AGT	C1orf173	-	NULL	ENSG00000178965		0.547	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	638	0.92	6	A			75037161	75037161	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	437	10.89	54	SNP	0.000	C
ERICH3	127254	genome.wustl.edu	37	1	75055316	75055316	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:75055316A>C	ENST00000326665.5	-	12	2393	c.2175T>G	c.(2173-2175)ggT>ggG	p.G725G	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.G528G	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		725	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATACTTACCACCTTCCTCCA	0.463																																						dbGAP											0													278.0	268.0	271.0					1																	75055316		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000326665.5:c.2176+1T>G	1.37:g.75055316A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.G725	ENST00000326665.5	37	c.2175	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.463	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	507	0.00	0	A		Silent	75055316	75055316	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	silent	310	14.84	54	SNP	0.947	C
C1orf198	84886	genome.wustl.edu	37	1	230979483	230979483	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:230979483T>G	ENST00000366663.5	-	3	684	c.544A>C	c.(544-546)Acc>Ccc	p.T182P	C1orf198_ENST00000523410.1_Missense_Mutation_p.T52P|C1orf198_ENST00000470540.1_Missense_Mutation_p.T144P|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	182						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCCTTCCTGGTGGGGCCCAGG	0.657																																						dbGAP											0													79.0	86.0	84.0					1																	230979483		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.544A>C	1.37:g.230979483T>G	ENSP00000355623:p.Thr182Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.T182P	ENST00000366663.5	37	c.544	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	T	4.142	0.024723	0.08054	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.30981	1.51;1.51;1.52	4.61	-1.59	0.08453	.	1.420450	0.04508	N	0.382375	T	0.20007	0.0481	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21075	-1.0256	10	0.32370	T	0.25	-2.0574	2.243	0.04024	0.1025:0.3517:0.2556:0.2902	.	182	Q9H425	CA198_HUMAN	P	182;144;52;139	ENSP00000355623:T182P;ENSP00000428172:T144P;ENSP00000430967:T52P	ENSP00000355623:T182P	T	-	1	0	C1orf198	229046106	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-1.836000	0.01690	0.040000	0.15660	-0.464000	0.05259	ACC	C1orf198	-	NULL	ENSG00000119280		0.657	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	124	0.00	0	T	NM_032800		230979483	230979483	-1	no_errors	ENST00000366663	ensembl	human	known	69_37n	missense	263	10.20	30	SNP	0.000	G
CIART	148523	genome.wustl.edu	37	1	150259147	150259147	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:150259147A>C	ENST00000290363.5	+	5	1388	c.939A>C	c.(937-939)ccA>ccC	p.P313P	C1orf51_ENST00000369094.1_Silent_p.P225P|C1orf51_ENST00000369095.1_Silent_p.P313P	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		313					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCAGTCCCACCTACTACAG	0.547																																						dbGAP											0													165.0	145.0	152.0					1																	150259147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000290363.5:c.939A>C	1.37:g.150259147A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	NULL	p.P313	ENST00000290363.5	37	c.939	CCDS949.1	1																																																																																			C1orf51	-	NULL	ENSG00000159208		0.547	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1orf51	HGNC	protein_coding	OTTHUMT00000035058.1	456	0.22	1	A			150259147	150259147	+1	no_errors	ENST00000290363	ensembl	human	known	69_37n	silent	611	12.09	84	SNP	0.006	C
C1orf198	84886	genome.wustl.edu	37	1	230979525	230979525	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:230979525A>G	ENST00000366663.5	-	3	642	c.502T>C	c.(502-504)Tcc>Ccc	p.S168P	C1orf198_ENST00000523410.1_Missense_Mutation_p.S38P|C1orf198_ENST00000470540.1_Missense_Mutation_p.S130P|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	168						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGCCTTGGGAGGACTTGAGG	0.652																																						dbGAP											0													82.0	94.0	90.0					1																	230979525		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.502T>C	1.37:g.230979525A>G	ENSP00000355623:p.Ser168Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.S168P	ENST00000366663.5	37	c.502	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471474	0.26423	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.34667	1.43;1.44;1.35	4.45	-5.23	0.02798	.	0.696409	0.12755	N	0.441870	T	0.12050	0.0293	N	0.10733	0.035	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.11665	-1.0578	10	0.34782	T	0.22	-3.6642	0.8313	0.01131	0.3253:0.1312:0.3023:0.2412	.	168	Q9H425	CA198_HUMAN	P	168;130;38;125	ENSP00000355623:S168P;ENSP00000428172:S130P;ENSP00000430967:S38P	ENSP00000355623:S168P	S	-	1	0	C1orf198	229046148	0.353000	0.24904	0.008000	0.14137	0.961000	0.63080	0.556000	0.23438	-0.972000	0.03559	0.379000	0.24179	TCC	C1orf198	-	NULL	ENSG00000119280		0.652	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	120	0.83	1	A	NM_032800		230979525	230979525	-1	no_errors	ENST00000366663	ensembl	human	known	69_37n	missense	216	15.95	41	SNP	0.002	G
C20orf194	25943	genome.wustl.edu	37	20	3276685	3276685	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:3276685A>C	ENST00000252032.9	-	23	2086				C20orf194_ENST00000453730.2_Intron|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GAAATTTTCCACCCTGGTAGT	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2018+822T>G	20.37:g.3276685A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K86|Q6P2R9|Q9UFX9	RNA	SNP	-	NULL	ENST00000252032.9	37	NULL	CCDS42851.1	20																																																																																			C20orf194	-	-	ENSG00000088854		0.443	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	63	0.00	0	A	NM_001009984		3276685	3276685	-1	no_errors	ENST00000498079	ensembl	human	known	69_37n	rna	100	15.83	19	SNP	0.021	C
TANGO2	128989	genome.wustl.edu	37	22	20024444	20024444	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:20024444A>C	ENST00000327374.4	+	2	234				TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000401833.1_Silent_p.P2P|TANGO2_ENST00000479679.1_Intron|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000434570.2_Silent_p.P2P|TANGO2_ENST00000456048.1_5'Flank|TANGO2_ENST00000447208.2_Intron	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)																		TTCTCATGCCACCCAAGCTGC	0.627																																						dbGAP											0													54.0	52.0	52.0					22																	20024444		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.56+67A>C	22.37:g.20024444A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	pfam_DUF833	p.P2	ENST00000327374.4	37	c.6	CCDS13772.1	22																																																																																			C22orf25	-	NULL	ENSG00000183597		0.627	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf25	HGNC	protein_coding	OTTHUMT00000318689.2	26	0.00	0	A	NM_152906		20024444	20024444	+1	no_errors	ENST00000434570	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.000	C
DPAGT1	1798	genome.wustl.edu	37	11	118981767	118981767	+	5'Flank	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118981767T>G	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'UTR|C2CD2L_ENST00000336702.3_Silent_p.G229G			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGCAGAGAGGTGAAGAACAAG	0.567																																						dbGAP											0													140.0	139.0	139.0					11																	118981767		2200	4295	6495	-	-	-	SO:0001631	upstream_gene_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981767T>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	O15216|Q86WV9|Q9BWE6	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.G229	ENST00000409993.2	37	c.687	CCDS8411.1	11																																																																																			C2CD2L	-	NULL	ENSG00000172375		0.567	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000331527.2	302	0.33	1	T	NM_001382		118981767	118981767	+1	no_errors	ENST00000336702	ensembl	human	known	69_37n	silent	160	12.02	22	SNP	0.996	G
DPAGT1	1798	genome.wustl.edu	37	11	118981975	118981975	+	5'Flank	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118981975A>C	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_Silent_p.V15V|C2CD2L_ENST00000336702.3_Silent_p.V267V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCTCTTAGGTACCCAGTGAGA	0.532																																						dbGAP											0													165.0	171.0	169.0					11																	118981975		2200	4295	6495	-	-	-	SO:0001631	upstream_gene_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981975A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	O15216|Q86WV9|Q9BWE6	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.V267	ENST00000409993.2	37	c.801	CCDS8411.1	11																																																																																			C2CD2L	-	NULL	ENSG00000172375		0.532	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000331527.2	321	0.00	0	A	NM_001382		118981975	118981975	+1	no_errors	ENST00000336702	ensembl	human	known	69_37n	silent	154	12.92	23	SNP	0.997	C
DPAGT1	1798	genome.wustl.edu	37	11	118981990	118981990	+	5'Flank	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118981990A>C	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_Silent_p.P20P|C2CD2L_ENST00000336702.3_Silent_p.P272P			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GTGAGAAGCCACCCATGATGC	0.527																																						dbGAP											0													169.0	175.0	173.0					11																	118981990		2200	4295	6495	-	-	-	SO:0001631	upstream_gene_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981990A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	O15216|Q86WV9|Q9BWE6	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.P272	ENST00000409993.2	37	c.816	CCDS8411.1	11																																																																																			C2CD2L	-	NULL	ENSG00000172375		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000331527.2	309	0.96	3	A	NM_001382		118981990	118981990	+1	no_errors	ENST00000336702	ensembl	human	known	69_37n	silent	146	19.67	36	SNP	0.903	C
C2CD3	26005	genome.wustl.edu	37	11	73748605	73748605	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:73748605A>C	ENST00000334126.7	-	30	6025	c.5799T>G	c.(5797-5799)ggT>ggG	p.G1933G	C2CD3_ENST00000313663.7_Silent_p.G1933G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1933					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGCTGCTGGCACCTGGCCCAA	0.552																																						dbGAP											0													132.0	123.0	126.0					11																	73748605		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5799T>G	11.37:g.73748605A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.V674G	ENST00000334126.7	37	c.2021		11	.	.	.	.	.	.	.	.	.	.	A	9.744	1.165573	0.21538	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.96	3.61	0.41365	.	.	.	.	.	T	0.21761	0.0524	.	.	.	0.19575	N	0.999963	.	.	.	.	.	.	T	0.18085	-1.0348	4	.	.	.	0.7628	0.6244	0.00783	0.1761:0.1622:0.2859:0.3758	.	.	.	.	G	142	.	.	C	-	1	0	C2CD3	73426253	0.000000	0.05858	0.286000	0.24833	0.331000	0.28603	0.297000	0.19101	1.070000	0.40811	-0.302000	0.09304	TGC	C2CD3	-	NULL	ENSG00000168014		0.552	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		247	0.40	1	A	NM_015531		73748605	73748605	-1	no_start_codon	ENST00000442398	ensembl	human	known	69_37n	missense	180	16.82	37	SNP	0.002	C
C2CD2L	9854	genome.wustl.edu	37	11	118986930	118986930	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118986930A>C	ENST00000336702.3	+	14	2447	c.2088A>C	c.(2086-2088)aaA>aaC	p.K696N	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	695						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCAAATCCAAACCCAAGGCCA	0.587																																						dbGAP											0													84.0	84.0	84.0					11																	118986930		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.2088A>C	11.37:g.118986930A>C	ENSP00000338885:p.Lys696Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K696N	ENST00000336702.3	37	c.2088	CCDS8413.1	11	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032411	0.75504	.	.	ENSG00000172375	ENST00000336702	T	0.55413	0.52	5.21	5.21	0.72293	.	0.106815	0.64402	D	0.000009	T	0.55737	0.1939	L	0.46157	1.445	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.53861	0.736;0.736	T	0.59478	-0.7447	10	0.72032	D	0.01	-7.6261	8.9627	0.35856	0.9182:0.0:0.0818:0.0	.	695;696	O14523;O14523-2	C2C2L_HUMAN;.	N	696	ENSP00000338885:K696N	ENSP00000338885:K696N	K	+	3	2	C2CD2L	118492140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.545000	0.53648	2.175000	0.68902	0.533000	0.62120	AAA	C2CD2L	-	NULL	ENSG00000172375		0.587	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388197.2	30	0.00	0	A	NM_014807		118986930	118986930	+1	no_errors	ENST00000336702	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	1.000	C
C2orf16	84226	genome.wustl.edu	37	2	27802763	27802763	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27802763A>C	ENST00000408964.2	+	1	3375	c.3324A>C	c.(3322-3324)ccA>ccC	p.P1108P	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1108						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCTCCACCTCTAGCTT	0.463																																						dbGAP											0													88.0	90.0	90.0					2																	27802763		1929	4134	6063	-	-	-	SO:0001819	synonymous_variant	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3324A>C	2.37:g.27802763A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	NULL	p.P1108	ENST00000408964.2	37	c.3324	CCDS42666.1	2																																																																																			C2orf16	-	NULL	ENSG00000221843		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	174	0.00	0	A	NM_032266		27802763	27802763	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	silent	155	13.89	25	SNP	1.000	C
C2orf78	388960	genome.wustl.edu	37	2	74043748	74043748	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:74043748A>C	ENST00000409561.1	+	3	2519	c.2398A>C	c.(2398-2400)Acc>Ccc	p.T800P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	800										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						agccaaccctacccagcctaC	0.537																																						dbGAP											0													63.0	64.0	64.0					2																	74043748		2077	4211	6288	-	-	-	SO:0001583	missense	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2398A>C	2.37:g.74043748A>C	ENSP00000387124:p.Thr800Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T800P	ENST00000409561.1	37	c.2398	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653510	0.47362	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.45668	0.89	5.23	-4.67	0.03319	.	1.338300	0.05412	N	0.542571	T	0.42449	0.1203	L	0.54323	1.7	0.09310	N	1	D	0.59767	0.986	P	0.54174	0.744	T	0.47923	-0.9079	10	0.45353	T	0.12	4.7674	1.809	0.03087	0.2385:0.3724:0.2575:0.1316	.	800	A6NCI8	CB078_HUMAN	P	800;770	ENSP00000387124:T800P	ENSP00000340692:T770P	T	+	1	0	C2orf78	73897256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.368000	0.20399	-0.324000	0.08589	-0.371000	0.07208	ACC	C2orf78	-	NULL	ENSG00000187833		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	156	0.63	1	A	NM_001080474		74043748	74043748	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	missense	87	25.64	30	SNP	0.000	C
C3AR1	719	genome.wustl.edu	37	12	8212594	8212594	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:8212594T>G	ENST00000307637.4	-	2	391	c.188A>C	c.(187-189)cAc>cCc	p.H63P		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	63					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAAGGTGAGGTGGAGGAACCA	0.582																																						dbGAP											0													107.0	88.0	94.0					12																	8212594		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.188A>C	12.37:g.8212594T>G	ENSP00000302079:p.His63Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O43771|Q92868	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C3A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Frt_met_rcpt,prints_C5A_anaphtx_rcpt	p.H63P	ENST00000307637.4	37	c.188	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827951	0.71143	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.38722	1.12;1.12	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.075475	0.48286	D	0.000192	T	0.71508	0.3348	M	0.93808	3.46	0.34161	D	0.668693	D	0.71674	0.998	D	0.66979	0.948	D	0.85239	0.1037	10	0.72032	D	0.01	.	13.9003	0.63799	0.0:0.0:0.0:1.0	.	63	Q16581	C3AR_HUMAN	P	63	ENSP00000302079:H63P;ENSP00000444500:H63P	ENSP00000302079:H63P	H	-	2	0	C3AR1	8103861	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.041000	0.57339	2.166000	0.68216	0.477000	0.44152	CAC	C3AR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000171860		0.582	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	158	0.63	1	T			8212594	8212594	-1	no_errors	ENST00000307637	ensembl	human	known	69_37n	missense	173	20.28	44	SNP	0.998	G
C3orf20	84077	genome.wustl.edu	37	3	14746069	14746069	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:14746069A>C	ENST00000253697.3	+	7	1556	c.1104A>C	c.(1102-1104)gcA>gcC	p.A368A	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Silent_p.A246A|C3orf20_ENST00000435614.1_Silent_p.A246A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	368						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGGGGAAGGCACCCAAGAAGG	0.493																																						dbGAP											0													269.0	250.0	257.0					3																	14746069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1104A>C	3.37:g.14746069A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.A368	ENST00000253697.3	37	c.1104	CCDS33706.1	3																																																																																			C3orf20	-	NULL	ENSG00000131379		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	258	0.00	0	A	NM_032137		14746069	14746069	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	silent	231	14.44	39	SNP	0.000	C
C3orf30	152405	genome.wustl.edu	37	3	118866293	118866293	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:118866293A>C	ENST00000295622.1	+	1	1297	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_Silent_p.P24P|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	419										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCACTATCCCACCCTACAACC	0.443																																						dbGAP											0													133.0	130.0	131.0					3																	118866293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1257A>C	3.37:g.118866293A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B7	Missense_Mutation	SNP	NULL	p.T383P	ENST00000295622.1	37	c.1147	CCDS2984.1	3	.	.	.	.	.	.	.	.	.	.	A	3.673	-0.067042	0.07273	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	.	.	.	4.49	1.95	0.26073	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	1.8309	4.8264	0.13417	0.7127:0.1887:0.0986:0.0	.	.	.	.	P	383;212;154	.	.	T	+	1	0	C3orf30	120348983	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.441000	0.35035	0.422000	0.26005	0.533000	0.62120	ACC	C3orf30	-	NULL	ENSG00000163424		0.443	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	247	0.00	0	A	NM_152539		118866293	118866293	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000460150	ensembl	human	putative	69_37n	missense	213	10.88	26	SNP	0.000	C
C6	729	genome.wustl.edu	37	5	41161915	41161915	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:41161915A>C	ENST00000263413.3	-	10	1602	c.1338T>G	c.(1336-1338)ggT>ggG	p.G446G	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.G446G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	446	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACTCCTTCCACCTCGAATCA	0.418																																						dbGAP											0													114.0	112.0	113.0					5																	41161915		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1338T>G	5.37:g.41161915A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G446	ENST00000263413.3	37	c.1338	CCDS3936.1	5																																																																																			C6	-	pfam_MACPF,smart_MACPF	ENSG00000039537		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	194	0.00	0	A			41161915	41161915	-1	no_errors	ENST00000263413	ensembl	human	known	69_37n	silent	157	16.49	31	SNP	0.520	C
SMIM3	85027	genome.wustl.edu	37	5	150175090	150175090	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150175090A>C	ENST00000526627.1	+	2	1126	c.88A>C	c.(88-90)Acc>Ccc	p.T30P	AC010441.1_ENST00000600109.1_3'UTR	NM_032947.4	NP_116565.3	Q9BZL3	SMIM3_HUMAN	small integral membrane protein 3	30						integral component of membrane (GO:0016021)											CATCCTGGCCACCATTGTCAT	0.522																																						dbGAP											0													112.0	92.0	98.0					5																	150175090		692	1591	2283	-	-	-	SO:0001583	missense	0			AF313413	CCDS47312.1, CCDS47312.2	5q33.1	2012-10-01	2012-10-01	2012-10-01	ENSG00000256235	ENSG00000256235			30248	protein-coding gene	gene with protein product		608324	"""chromosome 5 open reading frame 62"""	C5orf62		11288140	Standard	NM_032947		Approved	MSTP150, NID67	uc003lsw.3	Q9BZL3	OTTHUMG00000163646	ENST00000526627.1:c.88A>C	5.37:g.150175090A>C	ENSP00000436897:p.Thr30Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIG3|Q6ZUV4	Missense_Mutation	SNP	NULL	p.T30P	ENST00000526627.1	37	c.88	CCDS47312.2	5	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970097	0.53614	.	.	ENSG00000256235	ENST00000526627	.	.	.	5.11	3.96	0.45880	.	.	.	.	.	T	0.45296	0.1335	.	.	.	0.31409	N	0.675725	.	.	.	.	.	.	T	0.50127	-0.8864	4	.	.	.	.	9.4701	0.38837	0.9138:0.0:0.0862:0.0	.	.	.	.	P	30	.	.	T	+	1	0	C5orf62	150155283	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.651000	0.61447	1.049000	0.40321	-0.415000	0.06103	ACC	C5orf62	-	NULL	ENSG00000256235		0.522	SMIM3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	C5orf62	HGNC	protein_coding	OTTHUMT00000374647.2	79	0.00	0	A	NM_032947		150175090	150175090	+1	no_errors	ENST00000526627	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	1.000	C
SIMC1	375484	genome.wustl.edu	37	5	175740788	175740788	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:175740788A>C	ENST00000443967.1	+	7	2179	c.1772A>C	c.(1771-1773)cAc>cCc	p.H591P	SIMC1_ENST00000332772.4_Missense_Mutation_p.H52P|SIMC1_ENST00000430704.2_Missense_Mutation_p.H176P|SIMC1_ENST00000341199.6_Missense_Mutation_p.H176P			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	591							SUMO polymer binding (GO:0032184)										CAACGGCAGCACCTGCAGCAA	0.547																																						dbGAP											0													135.0	133.0	134.0					5																	175740788		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1772A>C	5.37:g.175740788A>C	ENSP00000406571:p.His591Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.H591P	ENST00000443967.1	37	c.1772		5	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553608	0.65425	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.49	5.49	0.81192	.	0.437967	0.22685	N	0.056896	T	0.57242	0.2040	L	0.48642	1.525	0.80722	D	1	D;D;D	0.71674	0.991;0.994;0.998	P;P;D	0.67382	0.791;0.865;0.951	T	0.57487	-0.7803	10	0.48119	T	0.1	-20.9197	8.9622	0.35854	0.8348:0.0:0.0:0.1652	.	52;176;591	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	P	176;176;591;52	ENSP00000342075:H176P;ENSP00000409287:H176P;ENSP00000406571:H591P;ENSP00000331311:H52P	ENSP00000331311:H52P	H	+	2	0	C5orf25	175673394	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.702000	0.37836	2.096000	0.63516	0.533000	0.62120	CAC	C5orf25	-	NULL	ENSG00000170085		0.547	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	165	0.60	1	A	NM_198567		175740788	175740788	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	122	17.01	25	SNP	1.000	C
C6orf10	10665	genome.wustl.edu	37	6	32261212	32261212	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32261212A>C	ENST00000447241.2	-	23	1410	c.1238T>G	c.(1237-1239)gTa>gGa	p.V413G	C6orf10_ENST00000375007.4_Missense_Mutation_p.V411G|C6orf10_ENST00000375015.4_Missense_Mutation_p.V412G|C6orf10_ENST00000527965.1_Missense_Mutation_p.V397G|C6orf10_ENST00000442822.2_Missense_Mutation_p.V404G|C6orf10_ENST00000533191.1_Missense_Mutation_p.V411G	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	413						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACTCTTCTCTACCTGGGCTTC	0.473																																						dbGAP											0													135.0	156.0	149.0					6																	32261212		1510	2708	4218	-	-	-	SO:0001583	missense	0			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1238T>G	6.37:g.32261212A>C	ENSP00000415517:p.Val413Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	NULL	p.V413G	ENST00000447241.2	37	c.1238	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	A	9.138	1.013121	0.19277	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04275	3.67;3.71;3.66;3.71;3.71;3.7	3.08	-6.16	0.02098	.	.	.	.	.	T	0.02888	0.0086	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.991;0.999	P;D	0.68192	0.752;0.956	T	0.40739	-0.9547	9	0.20519	T	0.43	-0.0936	1.7873	0.03044	0.4941:0.1714:0.2079:0.1266	.	413;404	Q5SRN2;C9J9T8	CF010_HUMAN;.	G	404;413;412;411;397;411;410;410	ENSP00000411164:V404G;ENSP00000415517:V413G;ENSP00000364155:V412G;ENSP00000431199:V411G;ENSP00000435103:V397G;ENSP00000364146:V411G	ENSP00000303292:V410G	V	-	2	0	C6orf10	32369190	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.339000	0.01102	-4.423000	0.00050	-1.679000	0.00737	GTA	C6orf10	-	NULL	ENSG00000204296		0.473	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	488	0.81	4	A	NM_006781		32261212	32261212	-1	no_errors	ENST00000447241	ensembl	human	known	69_37n	missense	416	14.69	72	SNP	0.000	C
C7	730	genome.wustl.edu	37	5	40958263	40958263	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:40958263T>G	ENST00000313164.9	+	11	1748	c.1389T>G	c.(1387-1389)ggT>ggG	p.G463G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	463	EGF-like.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GTCAAAATGGTGGTTTGGCTA	0.488																																						dbGAP											0													149.0	143.0	145.0					5																	40958263		1935	4137	6072	-	-	-	SO:0001819	synonymous_variant	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1389T>G	5.37:g.40958263T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G463	ENST00000313164.9	37	c.1389	CCDS47201.1	5																																																																																			C7	-	prints_MAC_perforin	ENSG00000112936		0.488	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	136	0.00	0	T			40958263	40958263	+1	no_errors	ENST00000313164	ensembl	human	known	69_37n	silent	104	15.45	19	SNP	0.955	G
C7	730	genome.wustl.edu	37	5	40972586	40972586	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:40972586T>G	ENST00000313164.9	+	15	2323	c.1964T>G	c.(1963-1965)gTg>gGg	p.V655G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	655	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GGTGAGAAGGTGACTGTTTCC	0.468																																						dbGAP											0													178.0	173.0	175.0					5																	40972586		2017	4185	6202	-	-	-	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1964T>G	5.37:g.40972586T>G	ENSP00000322061:p.Val655Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.V655G	ENST00000313164.9	37	c.1964	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361898	0.82353	.	.	ENSG00000112936	ENST00000313164	T	0.71461	-0.57	5.84	5.84	0.93424	Complement control module (2);Sushi/SCR/CCP (3);	0.144826	0.46145	D	0.000306	D	0.84737	0.5538	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86848	0.2021	10	0.87932	D	0	-17.8433	15.867	0.79071	0.0:0.0:0.0:1.0	.	655	P10643	CO7_HUMAN	G	655	ENSP00000322061:V655G	ENSP00000322061:V655G	V	+	2	0	C7	41008343	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.357000	0.66058	2.226000	0.72624	0.482000	0.46254	GTG	C7	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000112936		0.468	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	281	0.35	1	T			40972586	40972586	+1	no_errors	ENST00000313164	ensembl	human	known	69_37n	missense	291	10.46	34	SNP	1.000	G
C7orf31	136895	genome.wustl.edu	37	7	25218861	25218861	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:25218861T>G	ENST00000409280.1	-	2	375	c.67A>C	c.(67-69)Acc>Ccc	p.T23P	C7orf31_ENST00000283905.3_Missense_Mutation_p.T23P			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	23										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAGTAAAAGGTGTTGGACAGT	0.463																																						dbGAP											0													137.0	122.0	127.0					7																	25218861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.67A>C	7.37:g.25218861T>G	ENSP00000386604:p.Thr23Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	NULL	p.T23P	ENST00000409280.1	37	c.67	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	N	20.7	4.026209	0.75390	.	.	ENSG00000153790	ENST00000409280;ENST00000283905;ENST00000443822;ENST00000415598;ENST00000444434	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.45	5.45	0.79879	.	0.090763	0.48286	D	0.000193	T	0.33962	0.0881	M	0.69823	2.125	0.34046	D	0.655617	D	0.67145	0.996	D	0.67725	0.953	T	0.52215	-0.8605	10	0.72032	D	0.01	-7.7381	11.9551	0.52976	0.0:0.0:0.0:1.0	.	23	Q8N865	CG031_HUMAN	P	23	ENSP00000386604:T23P;ENSP00000283905:T23P;ENSP00000388472:T23P;ENSP00000391212:T23P;ENSP00000403281:T23P	ENSP00000283905:T23P	T	-	1	0	C7orf31	25185386	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	3.882000	0.56160	2.074000	0.62210	0.529000	0.55759	ACC	C7orf31	-	NULL	ENSG00000153790		0.463	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	133	0.00	0	T	NM_138811		25218861	25218861	-1	no_errors	ENST00000283905	ensembl	human	known	69_37n	missense	54	20.29	14	SNP	0.638	G
C7orf62	219557	genome.wustl.edu	37	7	88423977	88423977	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:88423977T>G	ENST00000297203.2	-	2	465	c.280A>C	c.(280-282)Act>Cct	p.T94P	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	94										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAATGGAAGTGGGATAGATG	0.383																																						dbGAP											0													101.0	96.0	98.0					7																	88423977		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.280A>C	7.37:g.88423977T>G	ENSP00000297203:p.Thr94Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T94P	ENST00000297203.2	37	c.280	CCDS34678.1	7	.	.	.	.	.	.	.	.	.	.	T	11.66	1.703600	0.30232	.	.	ENSG00000164645	ENST00000297203	T	0.15487	2.42	6.06	6.06	0.98353	.	0.389211	0.29205	N	0.012827	T	0.35682	0.0940	L	0.57536	1.79	0.09310	N	1	D	0.67145	0.996	D	0.64410	0.925	T	0.22243	-1.0222	10	0.56958	D	0.05	-3.6717	13.0163	0.58759	0.0:0.0:0.0:1.0	.	94	Q8TBZ9	CG062_HUMAN	P	94	ENSP00000297203:T94P	ENSP00000297203:T94P	T	-	1	0	C7orf62	88261913	0.249000	0.23941	0.075000	0.20258	0.012000	0.07955	4.211000	0.58507	2.323000	0.78572	0.528000	0.53228	ACT	C7orf62	-	NULL	ENSG00000164645		0.383	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf62	HGNC	protein_coding	OTTHUMT00000332714.1	203	0.49	1	T	NM_152706		88423977	88423977	-1	no_errors	ENST00000297203	ensembl	human	known	69_37n	missense	164	10.81	20	SNP	0.057	G
C7orf43	55262	genome.wustl.edu	37	7	99755254	99755254	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99755254A>C	ENST00000316937.3	-	3	823		c.e3+1		C7orf43_ENST00000419841.1_Splice_Site|C7orf43_ENST00000457641.1_Splice_Site|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000498638.1_5'Flank|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43											breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCCTGCCCACCTTGGGCCT	0.602											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													138.0	160.0	152.0					7																	99755254		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.637+1T>G	7.37:g.99755254A>C		Somatic	1346	WXS	Illumina GAIIx	Phase_IV	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Splice_Site	SNP	-	e3+2	ENST00000316937.3	37	c.637+2	CCDS5687.1	7	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484645	0.63962	.	.	ENSG00000146826	ENST00000316937;ENST00000456769	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7344	0.57214	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf43	99593190	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.691000	0.54720	2.263000	0.75096	0.379000	0.24179	.	C7orf43	-	-	ENSG00000146826		0.602	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf43	HGNC	protein_coding	OTTHUMT00000337395.2	152	0.65	1	A	NM_018275	Intron	99755254	99755254	-1	no_errors	ENST00000316937	ensembl	human	known	69_37n	splice_site	148	16.85	30	SNP	1.000	C
KEL	3792	genome.wustl.edu	37	7	142637571	142637571	+	IGR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142637571A>C	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.H114P	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACTCTTTCCACCTCAGCTTC	0.547																																						dbGAP											0													240.0	214.0	223.0					7																	142637571		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637571A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	NULL	p.H114P	ENST00000355265.2	37	c.341	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	a	7.454	0.643238	0.14451	.	.	ENSG00000165131	ENST00000409607	.	.	.	4.38	4.38	0.52667	.	0.506389	0.18096	N	0.151849	T	0.18045	0.0433	N	0.22421	0.69	0.09310	N	0.999997	P	0.45176	0.852	B	0.35727	0.209	T	0.09422	-1.0675	9	0.42905	T	0.14	-24.493	10.1679	0.42890	1.0:0.0:0.0:0.0	.	89	Q96L11	CG034_HUMAN	P	114	.	ENSP00000386450:H114P	H	+	2	0	C7orf34	142347693	0.624000	0.27102	0.128000	0.21923	0.003000	0.03518	2.896000	0.48656	1.968000	0.57251	0.454000	0.30748	CAC	C7orf34	-	NULL	ENSG00000165131		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf34	HGNC	protein_coding	OTTHUMT00000347671.2	183	0.54	1	A	NM_000420		142637571	142637571	+1	no_errors	ENST00000409607	ensembl	human	known	69_37n	missense	140	14.63	24	SNP	0.448	C
ZBED6CL	113763	genome.wustl.edu	37	7	150027893	150027893	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:150027893A>C	ENST00000343855.4	+	1	956	c.400A>C	c.(400-402)Acc>Ccc	p.T134P	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	134																	CGTGGACCCCACCAGGGTAGC	0.612																																						dbGAP											0													25.0	29.0	28.0					7																	150027893		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.400A>C	7.37:g.150027893A>C	ENSP00000343242:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T134P	ENST00000343855.4	37	c.400	CCDS5900.1	7	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943765	0.18281	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.22	-3.48	0.04739	.	1.681380	0.04492	U	0.379797	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.22906	-1.0203	9	0.41790	T	0.15	.	6.2464	0.20820	0.2813:0.178:0.5407:0.0	.	134	Q96FA7	CG029_HUMAN	P	134	.	ENSP00000343242:T134P	T	+	1	0	C7orf29	149658826	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.127000	0.10547	-0.672000	0.05266	0.416000	0.27883	ACC	C7orf29	-	NULL	ENSG00000188707		0.612	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf29	HGNC	protein_coding	OTTHUMT00000350702.1	26	0.00	0	A	NM_138434		150027893	150027893	+1	no_errors	ENST00000343855	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.000	C
C8orf74	203076	genome.wustl.edu	37	8	10555289	10555289	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:10555289A>C	ENST00000304519.5	+	3	451	c.422A>C	c.(421-423)cAc>cCc	p.H141P	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	141										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCGTTGCCCACCTGGAGGTG	0.632																																						dbGAP											0													135.0	140.0	138.0					8																	10555289		2145	4228	6373	-	-	-	SO:0001583	missense	0			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.422A>C	8.37:g.10555289A>C	ENSP00000307129:p.His141Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUD6	Missense_Mutation	SNP	NULL	p.H141P	ENST00000304519.5	37	c.422	CCDS47800.1	8	.	.	.	.	.	.	.	.	.	.	A	5.909	0.351738	0.11182	.	.	ENSG00000171060	ENST00000304519	T	0.32272	1.46	5.24	-1.01	0.10169	.	1.022890	0.07752	N	0.948670	T	0.26593	0.0650	L	0.60455	1.87	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32295	-0.9912	10	0.33940	T	0.23	.	5.7066	0.17911	0.3288:0.4789:0.1923:0.0	.	141	Q6P047	CH074_HUMAN	P	141	ENSP00000307129:H141P	ENSP00000307129:H141P	H	+	2	0	C8orf74	10592699	0.000000	0.05858	0.004000	0.12327	0.556000	0.35491	0.123000	0.15708	0.011000	0.14865	0.459000	0.35465	CAC	C8orf74	-	NULL	ENSG00000171060		0.632	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf74	HGNC	protein_coding	OTTHUMT00000375675.1	126	0.79	1	A	NM_001040032		10555289	10555289	+1	no_errors	ENST00000304519	ensembl	human	known	69_37n	missense	109	17.16	23	SNP	0.000	C
C8orf44	56260	genome.wustl.edu	37	8	67590111	67590111	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:67590111A>C	ENST00000519561.1	+	2	319	c.168A>C	c.(166-168)tcA>tcC	p.S56S	C8orf44_ENST00000390159.3_Silent_p.S56S|C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000521889.1_Silent_p.S56S	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	56						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			caggcagatcacctgaggtca	0.547																																						dbGAP											0													23.0	23.0	23.0					8																	67590111		2203	4294	6497	-	-	-	SO:0001819	synonymous_variant	0			AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.168A>C	8.37:g.67590111A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NUM6	Silent	SNP	NULL	p.S56	ENST00000519561.1	37	c.168	CCDS6193.1	8																																																																																			C8orf44	-	NULL	ENSG00000213865		0.547	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C8orf44	HGNC	protein_coding	OTTHUMT00000379242.2	47	0.00	0	A	NM_019607		67590111	67590111	+1	no_errors	ENST00000390159	ensembl	human	known	69_37n	silent	38	30.91	17	SNP	0.001	C
C9orf131	138724	genome.wustl.edu	37	9	35043448	35043448	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35043448A>C	ENST00000312292.5	+	2	869	c.822A>C	c.(820-822)ccA>ccC	p.P274P	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.P226P|C9orf131_ENST00000354479.5_Silent_p.P201P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	274										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCTGCTTCCACCTCCATCTT	0.547																																						dbGAP											0													144.0	128.0	134.0					9																	35043448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.822A>C	9.37:g.35043448A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	NULL	p.P274	ENST00000312292.5	37	c.822	CCDS6572.2	9																																																																																			C9orf131	-	NULL	ENSG00000174038		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	442	0.89	4	A	NM_203299		35043448	35043448	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	silent	357	13.35	55	SNP	0.000	C
C9orf131	138724	genome.wustl.edu	37	9	35044318	35044318	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35044318A>C	ENST00000312292.5	+	2	1739	c.1692A>C	c.(1690-1692)ccA>ccC	p.P564P	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.P516P|C9orf131_ENST00000354479.5_Silent_p.P491P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	564										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCTCAGCCCACCCCCAGCTC	0.522																																						dbGAP											0													141.0	141.0	141.0					9																	35044318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1692A>C	9.37:g.35044318A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	NULL	p.P564	ENST00000312292.5	37	c.1692	CCDS6572.2	9																																																																																			C9orf131	-	NULL	ENSG00000174038		0.522	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	450	0.22	1	A	NM_203299		35044318	35044318	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	silent	343	16.26	67	SNP	0.005	C
C9orf131	138724	genome.wustl.edu	37	9	35045220	35045220	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35045220A>C	ENST00000312292.5	+	2	2641	c.2594A>C	c.(2593-2595)cAc>cCc	p.H865P	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.H817P|C9orf131_ENST00000354479.5_Missense_Mutation_p.H792P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	865										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CACTGTCATCACTTCCAATCC	0.547																																						dbGAP											0													251.0	258.0	256.0					9																	35045220		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2594A>C	9.37:g.35045220A>C	ENSP00000308279:p.His865Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.H865P	ENST00000312292.5	37	c.2594	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759907	0.31137	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.27402	1.69;1.67;1.72	2.84	1.62	0.23740	.	1.303930	0.05313	N	0.525157	T	0.49372	0.1553	M	0.62723	1.935	0.09310	N	1	D;D;P;P	0.69078	0.987;0.997;0.936;0.936	P;D;P;P	0.78314	0.696;0.991;0.571;0.571	T	0.16129	-1.0413	10	0.41790	T	0.15	0.7018	5.0505	0.14505	0.7348:0.0:0.0:0.2652	.	340;865;792;817	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	P	817;792;865;340	ENSP00000393683:H817P;ENSP00000346472:H792P;ENSP00000308279:H865P	ENSP00000308279:H865P	H	+	2	0	C9orf131	35035220	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	1.294000	0.33365	0.451000	0.26802	0.460000	0.39030	CAC	C9orf131	-	NULL	ENSG00000174038		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	621	0.79	5	A	NM_203299		35045220	35045220	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	missense	485	10.77	59	SNP	0.002	C
C9orf131	138724	genome.wustl.edu	37	9	35045544	35045544	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35045544A>C	ENST00000312292.5	+	2	2965	c.2918A>C	c.(2917-2919)cAc>cCc	p.H973P	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.H925P|C9orf131_ENST00000354479.5_Missense_Mutation_p.H900P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	973										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGAAGAACCACCCTGCCCAG	0.552																																						dbGAP											0													99.0	104.0	103.0					9																	35045544		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2918A>C	9.37:g.35045544A>C	ENSP00000308279:p.His973Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.H973P	ENST00000312292.5	37	c.2918	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606732	0.46527	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14766	2.49;2.48;2.49	4.42	3.23	0.37069	.	0.315958	0.23567	N	0.046794	T	0.14399	0.0348	L	0.55481	1.735	0.09310	N	1	B;B;B;B	0.28233	0.113;0.204;0.113;0.113	B;B;B;B	0.31390	0.074;0.129;0.074;0.074	T	0.17837	-1.0356	10	0.72032	D	0.01	-0.4507	7.714	0.28694	0.7855:0.2145:0.0:0.0	.	448;973;900;925	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	P	925;900;973;448	ENSP00000393683:H925P;ENSP00000346472:H900P;ENSP00000308279:H973P	ENSP00000308279:H973P	H	+	2	0	C9orf131	35035544	0.002000	0.14202	0.007000	0.13788	0.145000	0.21501	0.536000	0.23129	0.702000	0.31825	0.460000	0.39030	CAC	C9orf131	-	NULL	ENSG00000174038		0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	271	0.37	1	A	NM_203299		35045544	35045544	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	missense	170	13.27	26	SNP	0.015	C
C9orf24	84688	genome.wustl.edu	37	9	34382668	34382668	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:34382668T>G	ENST00000297623.2	-	3	595				C9orf24_ENST00000379133.3_5'Flank|C9orf24_ENST00000379124.1_5'Flank|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379126.3_5'Flank|C9orf24_ENST00000379127.1_5'Flank	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24						cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GACCTAATGGTGAAATATCAG	0.468																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.396+83A>C	9.37:g.34382668T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	NULL	NULL	ENST00000297623.2	37	c.376	CCDS6554.1	9																																																																																			C9orf24	-	NULL	ENSG00000164972		0.468	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf24	HGNC	protein_coding	OTTHUMT00000001098.3	49	0.00	0	T	NM_147169		34382668	34382668	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444429	ensembl	human	known	69_37n	silent	43	21.82	12	SNP	0.000	G
CCDC180	100499483	genome.wustl.edu	37	9	100105751	100105751	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:100105751A>C	ENST00000357054.1	+	33	3888	c.2953A>C	c.(2953-2955)Acc>Ccc	p.T985P	CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.T846P|CCDC180_ENST00000411667.2_Missense_Mutation_p.T843P|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.T846P			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	985						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTCCCATTCCACCTTCTCAGC	0.408																																						dbGAP											0													115.0	107.0	110.0					9																	100105751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2953A>C	9.37:g.100105751A>C	ENSP00000349562:p.Thr985Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.T846P	ENST00000357054.1	37	c.2536		9	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503746	0.26949	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.11930	3.08;3.1;2.73;3.1	4.62	-0.575	0.11734	.	1.532860	0.03421	N	0.206362	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B;B;B	0.33135	0.399;0.399;0.399	B;B;B	0.31686	0.134;0.134;0.134	T	0.20974	-1.0259	10	0.31617	T	0.26	-0.8397	2.7356	0.05239	0.3951:0.0:0.2087:0.3962	.	869;985;985	Q86Y65;B7ZMG3;Q9P1Z9	.;.;CI174_HUMAN	P	985;846;843;869;846	ENSP00000349562:T985P;ENSP00000364348:T846P;ENSP00000414000:T843P;ENSP00000434727:T846P	ENSP00000349562:T985P	T	+	1	0	C9orf174	99145572	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.175000	0.16762	-0.058000	0.13177	-0.327000	0.08410	ACC	C9orf174	-	NULL	ENSG00000197816		0.408	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		148	0.66	1	A	NM_020893		100105751	100105751	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	102	19.05	24	SNP	0.000	C
CCDC180	100499483	genome.wustl.edu	37	9	100137824	100137824	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:100137824A>C	ENST00000357054.1	+	48	5697	c.4762A>C	c.(4762-4764)Acc>Ccc	p.T1588P	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.T1643P|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.T1643P			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1588						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CACCAAAACCACCCTGGGCCA	0.577																																						dbGAP											0													134.0	108.0	117.0					9																	100137824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4762A>C	9.37:g.100137824A>C	ENSP00000349562:p.Thr1588Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.T1643P	ENST00000357054.1	37	c.4927		9	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896988	0.52121	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.25085	1.88;1.82;1.82	5.48	5.48	0.80851	.	0.125530	0.53938	D	0.000045	T	0.49779	0.1577	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.50268	-0.8848	10	0.51188	T	0.08	-18.0391	12.2771	0.54741	1.0:0.0:0.0:0.0	.	1782;1588	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	P	1588;1643;1643	ENSP00000349562:T1588P;ENSP00000364348:T1643P;ENSP00000434727:T1643P	ENSP00000349562:T1588P	T	+	1	0	C9orf174	99177645	0.719000	0.27986	0.399000	0.26333	0.181000	0.23173	4.810000	0.62598	2.217000	0.71921	0.533000	0.62120	ACC	C9orf174	-	NULL	ENSG00000197816		0.577	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		113	0.00	0	A	NM_020893		100137824	100137824	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	65	29.79	28	SNP	0.860	C
C9orf152	401546	genome.wustl.edu	37	9	112963655	112963655	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:112963655A>C	ENST00000400613.4	-	2	902	c.293T>G	c.(292-294)gTg>gGg	p.V98G	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	98										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCTCCCCTCCACCTCAGAATC	0.572																																						dbGAP											0													60.0	59.0	59.0					9																	112963655		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.293T>G	9.37:g.112963655A>C	ENSP00000383456:p.Val98Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWT6	Missense_Mutation	SNP	NULL	p.V98G	ENST00000400613.4	37	c.293	CCDS35102.2	9	.	.	.	.	.	.	.	.	.	.	A	7.684	0.689559	0.14973	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.26	-4.25	0.03766	.	0.902468	0.09371	N	0.811361	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	9	0.24483	T	0.36	0.5133	1.0763	0.01633	0.4403:0.1223:0.1899:0.2475	.	98	Q5JTZ5	CI152_HUMAN	G	98	.	ENSP00000383456:V98G	V	-	2	0	C9orf152	112003476	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-0.859000	0.04105	-0.904000	0.02843	GTG	C9orf152	-	NULL	ENSG00000188959		0.572	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf152	HGNC	protein_coding	OTTHUMT00000053602.2	159	0.62	1	A	NM_001012993		112963655	112963655	-1	no_errors	ENST00000400613	ensembl	human	known	69_37n	missense	139	12.03	19	SNP	0.000	C
C9orf84	158401	genome.wustl.edu	37	9	114454525	114454525	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:114454525T>G	ENST00000318737.4	-	25	3668	c.3540A>C	c.(3538-3540)ccA>ccC	p.P1180P	C9orf84_ENST00000394779.3_Silent_p.P1141P|C9orf84_ENST00000374287.3_Silent_p.P1180P|C9orf84_ENST00000394777.4_Silent_p.P1106P	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1180										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGTCACAGGTGGTAAAAAAC	0.358																																						dbGAP											0													96.0	99.0	98.0					9																	114454525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3540A>C	9.37:g.114454525T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.P1180	ENST00000318737.4	37	c.3540	CCDS6781.3	9																																																																																			C9orf84	-	NULL	ENSG00000165181		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	132	0.00	0	T	NM_173521		114454525	114454525	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	silent	80	14.74	14	SNP	0.006	G
C9orf43	257169	genome.wustl.edu	37	9	116186588	116186588	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:116186588A>C	ENST00000288462.4	+	8	1245	c.799A>C	c.(799-801)Acc>Ccc	p.T267P	C9orf43_ENST00000374165.1_Missense_Mutation_p.T267P	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	267										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						ACACCGCCTCACCCTGGAAGT	0.403																																						dbGAP											0													134.0	140.0	138.0					9																	116186588		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.799A>C	9.37:g.116186588A>C	ENSP00000288462:p.Thr267Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T267P	ENST00000288462.4	37	c.799	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027364	0.54683	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.61510	0.1;0.1	4.33	3.18	0.36537	.	0.000000	0.47093	D	0.000252	T	0.60932	0.2307	L	0.34521	1.04	0.32023	N	0.600487	D	0.89917	1.0	D	0.77557	0.99	T	0.65668	-0.6112	10	0.87932	D	0	-16.1992	6.773	0.23604	0.8956:0.0:0.1044:0.0	.	267	Q8TAL5	CI043_HUMAN	P	267	ENSP00000363280:T267P;ENSP00000288462:T267P	ENSP00000288462:T267P	T	+	1	0	C9orf43	115226409	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.108000	0.41854	0.983000	0.38602	0.460000	0.39030	ACC	C9orf43	-	NULL	ENSG00000157653		0.403	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	206	0.48	1	A	NM_152786		116186588	116186588	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	missense	186	16.96	38	SNP	1.000	C
CA10	56934	genome.wustl.edu	37	17	50212250	50212250	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:50212250A>C	ENST00000285273.4	-	2	1173				CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000340813.6_Missense_Mutation_p.V23G	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	attctccctcacccccaccat	0.567																																						dbGAP											0													116.0	101.0	105.0					17																	50212250		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.61+22835T>G	17.37:g.50212250A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V23G	ENST00000285273.4	37	c.68	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	A	9.137	1.012777	0.19277	.	.	ENSG00000154975	ENST00000340813	T	0.71579	-0.58	3.11	-0.538	0.11868	.	0.267225	0.19898	N	0.103573	T	0.43456	0.1248	.	.	.	0.09310	N	1	B	0.32893	0.389	B	0.19946	0.027	T	0.19451	-1.0305	8	.	.	.	.	3.7731	0.08649	0.4222:0.1965:0.0:0.3812	.	23	Q68D28	.	G	23	ENSP00000340363:V23G	.	V	-	2	0	CA10	47567249	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.069000	0.11542	-0.164000	0.10927	0.533000	0.62120	GTG	CA10	-	NULL	ENSG00000154975		0.567	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	202	0.00	0	A	NM_020178		50212250	50212250	-1	no_errors	ENST00000340813	ensembl	human	known	69_37n	missense	174	18.98	41	SNP	0.000	C
CA10	56934	genome.wustl.edu	37	17	50212256	50212256	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:50212256A>C	ENST00000285273.4	-	2	1173				CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000340813.6_Missense_Mutation_p.V21G	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	cctcacccccaccatacacag	0.562																																						dbGAP											0													119.0	103.0	108.0					17																	50212256		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.61+22829T>G	17.37:g.50212256A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V21G	ENST00000285273.4	37	c.62	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622648	0.14193	.	.	ENSG00000154975	ENST00000340813	T	0.71222	-0.55	3.23	-0.173	0.13322	.	3.535590	0.01721	N	0.028312	T	0.53286	0.1787	.	.	.	0.09310	N	1	B	0.24963	0.115	B	0.13407	0.009	T	0.29971	-0.9994	8	.	.	.	.	5.7218	0.17990	0.6175:0.0:0.3825:0.0	.	21	Q68D28	.	G	21	ENSP00000340363:V21G	.	V	-	2	0	CA10	47567255	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.347000	0.07750	-0.085000	0.12573	-0.256000	0.11100	GTG	CA10	-	NULL	ENSG00000154975		0.562	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	199	1.00	2	A	NM_020178		50212256	50212256	-1	no_errors	ENST00000340813	ensembl	human	known	69_37n	missense	182	16.44	36	SNP	0.001	C
CACHD1	57685	genome.wustl.edu	37	1	65047927	65047927	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:65047927A>C	ENST00000371073.2	+	3	350	c.350A>C	c.(349-351)cAc>cCc	p.H117P	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.H66P|MIR4794_ENST00000582305.1_RNA			Q5VU97	CAHD1_HUMAN	cache domain containing 1	117					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TATACGGCTCACCTAACCTCT	0.428																																						dbGAP											0													203.0	187.0	192.0					1																	65047927		1890	4125	6015	-	-	-	SO:0001583	missense	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.350A>C	1.37:g.65047927A>C	ENSP00000360113:p.His117Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.H117P	ENST00000371073.2	37	c.350		1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518750	0.85495	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.23754	1.89;1.89	5.87	5.87	0.94306	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.22421	0.69	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.17745	-1.0359	10	0.72032	D	0.01	-31.5531	16.2806	0.82678	1.0:0.0:0.0:0.0	.	117	Q5VU97	CAHD1_HUMAN	P	117;66	ENSP00000360113:H117P;ENSP00000290039:H66P	ENSP00000290039:H66P	H	+	2	0	CACHD1	64820515	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.792000	0.91856	2.248000	0.74166	0.533000	0.62120	CAC	CACHD1	-	pfam_VWA_N	ENSG00000158966		0.428	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		127	0.00	0	A	NM_020925		65047927	65047927	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	missense	83	20.19	21	SNP	1.000	C
CACNA1C	775	genome.wustl.edu	37	12	2795350	2795350	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:2795350A>C	ENST00000347598.4	+	47	5843	c.5843A>C	c.(5842-5844)cAc>cCc	p.H1948P	CACNA1C_ENST00000399597.1_Missense_Mutation_p.H1900P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H1900P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H1919P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H1925P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H1971P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H1900P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H1908P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H1900P|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H1919P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.H1900P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H1919P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H1935P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H1908P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H1917P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H1935P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H1928P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H1971P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H1906P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H1900P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H1920P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H1941P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1983					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCTCCTTCCACCTGGAATGT	0.567																																						dbGAP											0													95.0	98.0	97.0					12																	2795350		1998	4174	6172	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5843A>C	12.37:g.2795350A>C	ENSP00000266376:p.His1948Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.H1971P	ENST00000347598.4	37	c.5912	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976610	0.74360	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	4.91	4.91	0.64330	.	1.176780	0.06122	N	0.669045	T	0.73590	0.3606	M	0.67953	2.075	0.47308	D	0.999389	D;D;D;B;D;D;D;D;D;D;D;D;D;D;D;B;D;P;D;P;D;D;D;B;D	0.89917	0.988;0.999;0.995;0.003;0.997;0.999;0.998;0.999;0.981;0.993;1.0;0.998;0.999;0.999;0.992;0.131;0.999;0.956;0.998;0.956;0.998;0.999;0.999;0.234;0.995	P;D;D;B;D;D;D;D;P;P;D;D;D;D;D;B;D;P;D;P;D;D;D;B;D	0.87578	0.806;0.978;0.984;0.002;0.993;0.998;0.983;0.998;0.81;0.827;0.998;0.976;0.996;0.998;0.964;0.16;0.996;0.792;0.993;0.533;0.966;0.998;0.998;0.168;0.984	T	0.58836	-0.7566	10	0.40728	T	0.16	.	14.698	0.69136	1.0:0.0:0.0:0.0	.	591;1941;1897;1983;1935;1919;1900;1917;1928;1900;1920;1900;1931;1948;1900;1935;1971;1908;1906;1908;1889;1919;1919;1900;1900	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1925;1900;1900;1928;1900;1919;1919;1908;1900;1948;1920;1900;1941;1917;1935;1906;1919;1900;1971;1935;1971;1908;1801	ENSP00000336982:H1925P;ENSP00000382563:H1900P;ENSP00000382552:H1900P;ENSP00000382547:H1928P;ENSP00000382506:H1900P;ENSP00000382530:H1919P;ENSP00000382546:H1919P;ENSP00000382500:H1908P;ENSP00000382549:H1900P;ENSP00000266376:H1948P;ENSP00000382515:H1920P;ENSP00000382510:H1900P;ENSP00000341092:H1941P;ENSP00000382537:H1917P;ENSP00000329877:H1935P;ENSP00000382557:H1906P;ENSP00000385724:H1919P;ENSP00000382512:H1900P;ENSP00000382542:H1971P;ENSP00000382526:H1935P;ENSP00000385896:H1971P;ENSP00000382504:H1908P	ENSP00000323129:H1801P	H	+	2	0	CACNA1C	2665611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.652000	0.91083	2.061000	0.61500	0.528000	0.53228	CAC	CACNA1C	-	NULL	ENSG00000151067		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	102	0.97	1	A	NM_000719		2795350	2795350	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	119	12.50	17	SNP	1.000	C
CACNA1D	776	genome.wustl.edu	37	3	53839164	53839164	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:53839164A>C	ENST00000350061.5	+	45	6251	c.5740A>C	c.(5740-5742)Acc>Ccc	p.T1914P	CACNA1D_ENST00000288139.4_Missense_Mutation_p.T1934P|CACNA1D_ENST00000544977.1_Missense_Mutation_p.T293P|CACNA1D_ENST00000422281.2_Missense_Mutation_p.T1890P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1914					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTACCTCCCACCCCAGCATG	0.587																																						dbGAP											0													78.0	78.0	78.0					3																	53839164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5740A>C	3.37:g.53839164A>C	ENSP00000288133:p.Thr1914Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.T1934P	ENST00000350061.5	37	c.5800	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216890	0.58452	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	4.8	4.8	0.61643	.	0.363762	0.23760	N	0.044831	T	0.60894	0.2304	M	0.80982	2.52	0.54753	D	0.999983	B;B;B;B	0.19200	0.034;0.002;0.004;0.003	B;B;B;B	0.18263	0.02;0.002;0.005;0.021	T	0.61549	-0.7040	10	0.42905	T	0.14	.	14.7133	0.69249	1.0:0.0:0.0:0.0	.	1890;1607;1914;1934	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	P	1914;1934;1890;1607;293	ENSP00000288133:T1914P;ENSP00000288139:T1934P;ENSP00000409174:T1890P;ENSP00000418014:T1607P;ENSP00000440956:T293P	ENSP00000288139:T1934P	T	+	1	0	CACNA1D	53814204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.664000	0.91139	1.952000	0.56665	0.529000	0.55759	ACC	CACNA1D	-	NULL	ENSG00000157388		0.587	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	137	0.72	1	A	NM_000720		53839164	53839164	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	133	20.83	35	SNP	1.000	C
CACNA1E	777	genome.wustl.edu	37	1	181690905	181690905	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:181690905T>G	ENST00000367573.2	+	16	1968	c.1968T>G	c.(1966-1968)ggT>ggG	p.G656G	CACNA1E_ENST00000360108.3_Silent_p.G656G|CACNA1E_ENST00000357570.5_Silent_p.G607G|CACNA1E_ENST00000367567.4_Silent_p.G263G|CACNA1E_ENST00000367570.1_Silent_p.G656G|CACNA1E_ENST00000358338.5_Silent_p.G607G|CACNA1E_ENST00000526775.1_Silent_p.G656G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	656					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTGACGGGTGAGGACTGGA	0.537																																						dbGAP											0													170.0	169.0	169.0					1																	181690905		1998	4166	6164	-	-	-	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1968T>G	1.37:g.181690905T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G656	ENST00000367573.2	37	c.1968	CCDS55664.1	1																																																																																			CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1	ENSG00000198216		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	58	0.00	0	T	NM_000721		181690905	181690905	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	silent	103	13.45	16	SNP	0.498	G
CACNA1F	778	genome.wustl.edu	37	X	49072933	49072933	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:49072933G>A	ENST00000376265.2	-	27	3239	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1049W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R995W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1060	Dihydropyridine binding. {ECO:0000250}.		R -> W (in CSNB2A). {ECO:0000269|PubMed:12111638, ECO:0000269|PubMed:9662399}.		axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCCAGAGCCGCTCCCGGACC	0.567																																						dbGAP											0			GRCh37	CM980293	CACNA1F	M							68.0	52.0	57.0					X																	49072933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3178C>T	X.37:g.49072933G>A	ENSP00000365441:p.Arg1060Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1060W	ENST00000376265.2	37	c.3178	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	18.50	3.638176	0.67130	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98649	-5.05;-5.05;-5.05	4.94	4.04	0.47022	Ion transport (1);	0.061993	0.64402	D	0.000009	D	0.99459	0.9808	H	0.98388	4.22	0.46631	D	0.999131	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98249	1.0492	10	0.87932	D	0	.	12.4187	0.55508	0.0:0.0:0.8303:0.1697	.	1049;1060	F5CIQ9;O60840	.;CAC1F_HUMAN	W	995;1049;1060	ENSP00000365427:R995W;ENSP00000321618:R1049W;ENSP00000365441:R1060W	ENSP00000321618:R1049W	R	-	1	2	CACNA1F	48959877	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.340000	0.52143	0.809000	0.34255	0.513000	0.50165	CGG	CACNA1F	-	pfam_Ion_trans_dom	ENSG00000102001		0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	22	0.00	0	G	NM_005183		49072933	49072933	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	missense	27	34.88	15	SNP	0.999	A
CACNA1I	8911	genome.wustl.edu	37	22	40030725	40030725	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:40030725A>C	ENST00000402142.3	+	5	736	c.736A>C	c.(736-738)Acc>Ccc	p.T246P	CACNA1I_ENST00000401624.1_Missense_Mutation_p.T246P|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T246P|CACNA1I_ENST00000400164.3_Missense_Mutation_p.T246P|CACNA1I_ENST00000404898.1_Missense_Mutation_p.T246P|CACNA1I_ENST00000336649.4_Missense_Mutation_p.T246P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	246					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGAACTTCACCATGTGAGT	0.537																																						dbGAP											0													89.0	90.0	89.0					22																	40030725		2064	4207	6271	-	-	-	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.736A>C	22.37:g.40030725A>C	ENSP00000385019:p.Thr246Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.T246P	ENST00000402142.3	37	c.736	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726040	0.69074	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97186	-4.25;-4.2;-4.25;-4.2;-4.28;-4.18	5.52	5.52	0.82312	Ion transport (1);	0.192405	0.43579	D	0.000555	D	0.95790	0.8630	N	0.05467	-0.045	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	D;D;D;D	0.74023	0.968;0.968;0.968;0.982	D	0.96041	0.9024	10	0.34782	T	0.22	.	15.6295	0.76893	1.0:0.0:0.0:0.0	.	246;246;246;246	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	P	246	ENSP00000385019:T246P;ENSP00000384093:T246P;ENSP00000383887:T246P;ENSP00000385680:T246P;ENSP00000337829:T246P;ENSP00000383028:T246P	ENSP00000337829:T246P	T	+	1	0	CACNA1I	38360671	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.623000	0.67757	2.091000	0.63221	0.533000	0.62120	ACC	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.537	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	93	0.00	0	A	NM_001003406		40030725	40030725	+1	no_errors	ENST00000336649	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	1.000	C
CACNA2D3	55799	genome.wustl.edu	37	3	55108164	55108164	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:55108164T>G	ENST00000474759.1	+	38	3255	c.3207T>G	c.(3205-3207)ggT>ggG	p.G1069G	CACNA2D3_ENST00000490478.1_Silent_p.G975G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.G1069G|CACNA2D3_ENST00000415676.2_Silent_p.G1069G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1069						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGTGTGGGGGTGCGCCGAGTC	0.542																																						dbGAP											0													141.0	140.0	140.0					3																	55108164		2076	4182	6258	-	-	-	SO:0001819	synonymous_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3207T>G	3.37:g.55108164T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G1069	ENST00000474759.1	37	c.3207	CCDS54598.1	3																																																																																			CACNA2D3	-	NULL	ENSG00000157445		0.542	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	260	0.00	0	T			55108164	55108164	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	silent	203	13.25	31	SNP	0.997	G
CADPS	8618	genome.wustl.edu	37	3	62578370	62578370	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:62578370A>C	ENST00000383710.4	-	7	1728	c.1379T>G	c.(1378-1380)gTg>gGg	p.V460G	CADPS_ENST00000283269.9_Missense_Mutation_p.V460G|CADPS_ENST00000357948.3_Missense_Mutation_p.V460G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	460	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAACAGCTTCACCTTCACAGC	0.537																																						dbGAP											0													143.0	125.0	131.0					3																	62578370		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1379T>G	3.37:g.62578370A>C	ENSP00000373215:p.Val460Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V460G	ENST00000383710.4	37	c.1379	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685111	0.88639	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.75938	-0.98;-0.98;-0.98	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.85678	0.5752	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.78314	0.984;0.857;0.991	D	0.87529	0.2451	10	0.87932	D	0	.	15.7244	0.77743	1.0:0.0:0.0:0.0	.	460;460;460	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	G	460	ENSP00000373215:V460G;ENSP00000350632:V460G;ENSP00000283269:V460G	ENSP00000283269:V460G	V	-	2	0	CADPS	62553410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.146000	0.94640	2.171000	0.68590	0.533000	0.62120	GTG	CADPS	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000163618		0.537	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	161	0.61	1	A	NM_003716, NM_183393, NM_183394		62578370	62578370	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	missense	151	14.61	26	SNP	1.000	C
CAMK1G	57172	genome.wustl.edu	37	1	209785219	209785219	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:209785219T>G	ENST00000009105.1	+	11	1243	c.998T>G	c.(997-999)gTg>gGg	p.V333G	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.V333G			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	333						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CGCCCAGAGGTGGAGAACAGG	0.587																																					Ovarian(163;530 1939 9680 28669 48710)	dbGAP											0													81.0	90.0	87.0					1																	209785219		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.998T>G	1.37:g.209785219T>G	ENSP00000009105:p.Val333Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UH5|Q9Y3J7	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,pfscan_Prot_kinase_cat_dom	p.V333G	ENST00000009105.1	37	c.998	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.340310	0.24339	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.68181	-0.31;-0.31	5.46	1.86	0.25419	Protein kinase-like domain (1);	1.092000	0.07059	N	0.833325	T	0.41003	0.1140	N	0.08118	0	0.20489	N	0.999892	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25745	-1.0123	10	0.15499	T	0.54	.	3.707	0.08404	0.2074:0.4638:0.0:0.3289	.	333;333	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	G	333	ENSP00000009105:V333G;ENSP00000354861:V333G	ENSP00000009105:V333G	V	+	2	0	CAMK1G	207851842	0.000000	0.05858	0.507000	0.27676	0.271000	0.26615	0.233000	0.17911	0.400000	0.25396	0.456000	0.33151	GTG	CAMK1G	-	superfamily_Kinase-like_dom	ENSG00000008118		0.587	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1	165	0.60	1	T	NM_020439		209785219	209785219	+1	no_errors	ENST00000009105	ensembl	human	known	69_37n	missense	214	12.10	30	SNP	0.009	G
CAMK2A	815	genome.wustl.edu	37	5	149633074	149633074	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:149633074A>C	ENST00000348628.6	-	7	1112	c.447T>G	c.(445-447)ggT>ggG	p.G149G	CAMK2A_ENST00000398376.3_Silent_p.G149G	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACTGCGGCACCCTTGAGCT	0.592																																						dbGAP											0													63.0	72.0	69.0					5																	149633074		2155	4292	6447	-	-	-	SO:0001819	synonymous_variant	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.447T>G	5.37:g.149633074A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G149	ENST00000348628.6	37	c.447	CCDS43386.1	5																																																																																			CAMK2A	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000070808		0.592	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	68	0.00	0	A	NM_015981		149633074	149633074	-1	no_errors	ENST00000398376	ensembl	human	known	69_37n	silent	46	29.23	19	SNP	0.777	C
CAMK2A	815	genome.wustl.edu	37	5	149636385	149636385	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:149636385A>C	ENST00000348628.6	-	5	947	c.282T>G	c.(280-282)ggT>ggG	p.G94G	CAMK2A_ENST00000398376.3_Silent_p.G94G	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGTTCCCCACCAGTGACCC	0.592																																						dbGAP											0													64.0	67.0	66.0					5																	149636385		2048	4193	6241	-	-	-	SO:0001819	synonymous_variant	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.282T>G	5.37:g.149636385A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G94	ENST00000348628.6	37	c.282	CCDS43386.1	5																																																																																			CAMK2A	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000070808		0.592	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	34	0.00	0	A	NM_015981		149636385	149636385	-1	no_errors	ENST00000398376	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	0.618	C
CAPRIN2	65981	genome.wustl.edu	37	12	30863399	30863399	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:30863399A>C	ENST00000298892.5	-	17	3421	c.2671T>G	c.(2671-2673)Tgg>Ggg	p.W891G	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W607G|CAPRIN2_ENST00000417045.1_Silent_p.G954G|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W941G|CAPRIN2_ENST00000395805.2_Silent_p.G899G	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAATCACTCCACCCTGCTGTT	0.438																																						dbGAP											0													93.0	101.0	98.0					12																	30863399		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2671T>G	12.37:g.30863399A>C	ENSP00000298892:p.Trp891Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.W941G	ENST00000298892.5	37	c.2821	CCDS8720.1	12	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735778	0.69189	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	T;T;T	0.76316	-0.61;-0.69;-1.01	4.94	4.94	0.65067	.	0.311123	0.33938	N	0.004409	T	0.72028	0.3410	N	0.14661	0.345	0.49798	D	0.999821	D;D	0.58620	0.977;0.983	P;P	0.51453	0.652;0.67	T	0.78069	-0.2348	10	0.87932	D	0	-3.7595	14.8924	0.70620	1.0:0.0:0.0:0.0	.	941;891	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	G	891;941;607	ENSP00000298892:W891G;ENSP00000251071:W941G;ENSP00000309785:W607G	ENSP00000251071:W941G	W	-	1	0	CAPRIN2	30754666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	1.991000	0.58162	0.533000	0.62120	TGG	CAPRIN2	-	NULL	ENSG00000110888		0.438	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000402778.1	231	0.00	0	A	NM_023925		30863399	30863399	-1	no_errors	ENST00000251071	ensembl	human	known	69_37n	missense	181	22.22	52	SNP	1.000	C
CAPRIN2	65981	genome.wustl.edu	37	12	30872034	30872034	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:30872034T>G	ENST00000395805.2	-	12	2716	c.2169A>C	c.(2167-2169)gcA>gcC	p.A723A	CAPRIN2_ENST00000308433.5_Silent_p.A425A|CAPRIN2_ENST00000417045.1_Silent_p.A758A|CAPRIN2_ENST00000251071.5_Silent_p.A758A|CAPRIN2_ENST00000298892.5_Intron	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTGAAAGGGTGCTGTGTTAA	0.423																																						dbGAP											0													232.0	206.0	215.0					12																	30872034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2169A>C	12.37:g.30872034T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.A758	ENST00000395805.2	37	c.2274	CCDS55816.1	12																																																																																			CAPRIN2	-	pfam_Caprin-1_C	ENSG00000110888		0.423	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	292	0.00	0	T	NM_023925		30872034	30872034	-1	no_errors	ENST00000251071	ensembl	human	known	69_37n	silent	185	21.94	52	SNP	0.036	G
CASK	8573	genome.wustl.edu	37	X	41393988	41393988	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:41393988T>G	ENST00000378163.1	-	24	2762	c.2288A>C	c.(2287-2289)cAc>cCc	p.H763P	CASK_ENST00000442742.2_Missense_Mutation_p.H735P|CASK_ENST00000378166.4_Missense_Mutation_p.H758P|CASK_ENST00000361962.4_Missense_Mutation_p.H746P|CASK_ENST00000421587.2_Missense_Mutation_p.H734P|CASK_ENST00000318588.9_Missense_Mutation_p.H758P|CASK_ENST00000378158.1_Missense_Mutation_p.H746P			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	763	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CCGGTCTGGGTGCTTTGTGAT	0.333																																					NSCLC(42;104 1086 3090 27189 35040)	dbGAP											0													299.0	238.0	258.0					X																	41393988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2288A>C	X.37:g.41393988T>G	ENSP00000367405:p.His763Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.H763P	ENST00000378163.1	37	c.2288		X	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068377	0.76301	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.34	5.34	0.76211	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.56097	D	0.000027	T	0.67906	0.2943	M	0.86343	2.81	0.80722	D	1	D;P;D;D;D	0.67145	0.996;0.933;0.988;0.989;0.964	P;P;P;D;P	0.68483	0.897;0.801;0.735;0.958;0.881	T	0.74740	-0.3563	10	0.72032	D	0.01	.	14.4128	0.67128	0.0:0.0:0.0:1.0	.	734;735;758;763;355	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	P	734;758;746;763;355;218;746;758;735	ENSP00000400526:H734P;ENSP00000322727:H758P;ENSP00000354641:H746P;ENSP00000367405:H763P;ENSP00000367421:H355P;ENSP00000367410:H218P;ENSP00000367400:H746P;ENSP00000367408:H758P;ENSP00000398007:H735P	ENSP00000322727:H758P	H	-	2	0	CASK	41278932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.953000	0.70290	1.782000	0.52362	0.356000	0.21956	CAC	CASK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000147044		0.333	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	159	0.62	1	T	NM_003688		41393988	41393988	-1	no_errors	ENST00000378163	ensembl	human	known	69_37n	missense	155	14.21	26	SNP	1.000	G
CASP1	834	genome.wustl.edu	37	11	104905108	104905108	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:104905108A>C	ENST00000533400.1	-	2	136	c.101T>G	c.(100-102)gTg>gGg	p.V34G	CASP1_ENST00000528974.1_5'UTR|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.V34G|CASP1_ENST00000527979.1_Missense_Mutation_p.V18G|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.V34G|CASP1_ENST00000598974.1_Missense_Mutation_p.V34G|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.V34G|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.V34G	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	34	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CTTGTTCAGCACCCTTGTCTG	0.423																																					NSCLC(41;1246 1743 4934)	dbGAP											0													338.0	317.0	324.0					11																	104905108		2202	4299	6501	-	-	-	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.101T>G	11.37:g.104905108A>C	ENSP00000433138:p.Val34Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.V34G	ENST00000533400.1	37	c.101	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434328	0.43224	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825	T;T;T;T;T	0.61274	0.12;1.05;1.05;1.05;1.05	4.83	4.83	0.62350	DEATH-like (2);Caspase Recruitment (3);	0.264049	0.37053	N	0.002261	T	0.79064	0.4383	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.998;0.999;0.998	T	0.82944	-0.0206	10	0.59425	D	0.04	.	12.6423	0.56716	1.0:0.0:0.0:0.0	.	34;34;34;18	B4DKN4;P29466-2;P29466;G3V169	.;.;CASP1_HUMAN;.	G	18;34;34;34;34	ENSP00000432340:V18G;ENSP00000433138:V34G;ENSP00000410076:V34G;ENSP00000376844:V34G;ENSP00000434779:V34G	ENSP00000376844:V34G	V	-	2	0	CASP1	104410318	0.995000	0.38212	0.971000	0.41717	0.035000	0.12851	5.576000	0.67437	1.931000	0.55961	0.455000	0.32223	GTG	CASP1	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137752		0.423	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	615	0.16	1	A	NM_033292		104905108	104905108	-1	no_errors	ENST00000436863	ensembl	human	known	69_37n	missense	426	13.39	66	SNP	0.972	C
CASP2	835	genome.wustl.edu	37	7	142989528	142989528	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142989528A>C	ENST00000310447.5	+	3	602	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.T121P	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	121	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GTTGCTCACCACCCTTTCTGG	0.502																																						dbGAP											0													149.0	139.0	143.0					7																	142989528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.361A>C	7.37:g.142989528A>C	ENSP00000312664:p.Thr121Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.T121P	ENST00000310447.5	37	c.361	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	a	17.91	3.504040	0.64410	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.42131	0.98;0.98	5.48	4.33	0.51752	DEATH-like (2);Caspase Recruitment (1);	0.513993	0.22344	N	0.061292	T	0.35653	0.0939	N	0.08118	0	0.35325	D	0.78514	D	0.67145	0.996	P	0.60886	0.88	T	0.50065	-0.8871	10	0.62326	D	0.03	.	6.0715	0.19891	0.7796:0.0:0.0767:0.1437	.	121	P42575	CASP2_HUMAN	P	121;121;90	ENSP00000312664:T121P;ENSP00000376656:T121P	ENSP00000312664:T121P	T	+	1	0	CASP2	142699650	0.312000	0.24545	0.893000	0.35052	0.991000	0.79684	1.777000	0.38604	1.034000	0.39945	0.529000	0.55759	ACC	CASP2	-	superfamily_DEATH-like,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000106144		0.502	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	126	0.78	1	A	NM_032982		142989528	142989528	+1	no_errors	ENST00000310447	ensembl	human	known	69_37n	missense	71	21.11	19	SNP	0.796	C
CASR	846	genome.wustl.edu	37	3	121981022	121981022	+	Missense_Mutation	SNP	T	T	G	rs145869851		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:121981022T>G	ENST00000490131.1	+	4	1512	c.1140T>G	c.(1138-1140)agT>agG	p.S380R	CASR_ENST00000296154.5_Missense_Mutation_p.S380R|CASR_ENST00000498619.1_Missense_Mutation_p.S380R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	380					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACGAAGAAAGTGGCGACAGGT	0.493																																						dbGAP											0													100.0	92.0	95.0					3																	121981022		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1140T>G	3.37:g.121981022T>G	ENSP00000418685:p.Ser380Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.S380R	ENST00000490131.1	37	c.1140	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	T	4.885	0.164409	0.09287	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89050	-2.46;-2.45;-2.46	5.93	-2.63	0.06133	Extracellular ligand-binding receptor (1);	0.453943	0.22727	N	0.056379	T	0.68054	0.2959	N	0.08118	0	0.09310	N	0.999999	B;B	0.15719	0.014;0.014	B;B	0.18871	0.023;0.012	T	0.55860	-0.8074	10	0.21540	T	0.41	.	1.6199	0.02711	0.323:0.1301:0.0979:0.4491	.	380;380	E7ENE0;P41180	.;CASR_HUMAN	R	380	ENSP00000418685:S380R;ENSP00000420194:S380R;ENSP00000296154:S380R	ENSP00000296154:S380R	S	+	3	2	CASR	123463712	0.014000	0.17966	0.029000	0.17559	0.182000	0.23217	-0.072000	0.11486	0.093000	0.17368	0.533000	0.62120	AGT	CASR	-	pfam_ANF_lig-bd_rcpt	ENSG00000036828		0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	178	0.00	0	T	NM_000388		121981022	121981022	+1	no_errors	ENST00000498619	ensembl	human	known	69_37n	missense	150	12.79	22	SNP	0.013	G
CBL	867	genome.wustl.edu	37	11	119158602	119158602	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:119158602A>C	ENST00000264033.4	+	12	2358	c.1982A>C	c.(1981-1983)cAc>cCc	p.H661P	RNU6-262P_ENST00000410317.1_RNA	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	661	Interaction with CD2AP.|Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGTGTGACCACCCCAAAATC	0.423			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													188.0	160.0	170.0					11																	119158602		2199	4295	6494	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1982A>C	11.37:g.119158602A>C	ENSP00000264033:p.His661Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.H661P	ENST00000264033.4	37	c.1982	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	A	9.806	1.181728	0.21787	.	.	ENSG00000110395	ENST00000264033	T	0.76578	-1.03	5.21	4.07	0.47477	.	0.261530	0.43747	D	0.000535	T	0.58438	0.2122	N	0.24115	0.695	0.28637	N	0.907381	P	0.35363	0.497	B	0.28553	0.091	T	0.49835	-0.8897	10	0.09084	T	0.74	-31.2543	12.1931	0.54282	0.857:0.143:0.0:0.0	.	661	P22681	CBL_HUMAN	P	661	ENSP00000264033:H661P	ENSP00000264033:H661P	H	+	2	0	CBL	118663812	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.519000	0.67074	0.796000	0.33947	-0.313000	0.08912	CAC	CBL	-	NULL	ENSG00000110395		0.423	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	111	0.89	1	A	NM_005188		119158602	119158602	+1	no_errors	ENST00000264033	ensembl	human	known	69_37n	missense	143	10.62	17	SNP	1.000	C
CBLB	868	genome.wustl.edu	37	3	105422910	105422910	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:105422910T>G	ENST00000264122.4	-	11	1836	c.1515A>C	c.(1513-1515)ccA>ccC	p.P505P	CBLB_ENST00000394027.3_Silent_p.P527P|CBLB_ENST00000403724.1_Silent_p.P505P|CBLB_ENST00000405772.1_Silent_p.P505P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	505	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GAGGCACGGGTGGCAGGCTTA	0.522			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													210.0	214.0	213.0					3																	105422910		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1515A>C	3.37:g.105422910T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.P505	ENST00000264122.4	37	c.1515	CCDS2948.1	3																																																																																			CBLB	-	NULL	ENSG00000114423		0.522	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	114	0.00	0	T	NM_170662		105422910	105422910	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	silent	86	18.69	20	SNP	0.995	G
CBLL1	79872	genome.wustl.edu	37	7	107399335	107399335	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:107399335A>C	ENST00000440859.3	+	6	1655	c.1188A>C	c.(1186-1188)ccA>ccC	p.P396P	CBLL1_ENST00000222597.2_Silent_p.P395P	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	396	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCCAGATGCCACCTTATATGA	0.512																																						dbGAP											0													202.0	203.0	203.0					7																	107399335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1188A>C	7.37:g.107399335A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM03|Q8TAJ4|Q9H5S6	Silent	SNP	pfscan_Znf_RING	p.P396	ENST00000440859.3	37	c.1188	CCDS5747.1	7																																																																																			CBLL1	-	NULL	ENSG00000105879		0.512	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	452	0.44	2	A	NM_024814		107399335	107399335	+1	no_errors	ENST00000440859	ensembl	human	known	69_37n	silent	497	11.57	65	SNP	1.000	C
CBLL1	79872	genome.wustl.edu	37	7	107399371	107399371	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:107399371A>C	ENST00000440859.3	+	6	1691	c.1224A>C	c.(1222-1224)ccA>ccC	p.P408P	CBLL1_ENST00000222597.2_Silent_p.P407P	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	408	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GACCTCCCCCACCTCAACATG	0.517																																						dbGAP											0													193.0	184.0	187.0					7																	107399371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1224A>C	7.37:g.107399371A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM03|Q8TAJ4|Q9H5S6	Silent	SNP	pfscan_Znf_RING	p.P408	ENST00000440859.3	37	c.1224	CCDS5747.1	7																																																																																			CBLL1	-	NULL	ENSG00000105879		0.517	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	383	0.26	1	A	NM_024814		107399371	107399371	+1	no_errors	ENST00000440859	ensembl	human	known	69_37n	silent	364	16.25	71	SNP	0.746	C
CBLL1	79872	genome.wustl.edu	37	7	107399569	107399569	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:107399569A>C	ENST00000440859.3	+	6	1889	c.1422A>C	c.(1420-1422)ccA>ccC	p.P474P	CBLL1_ENST00000222597.2_Silent_p.P473P	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	474	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTCAAACCCCACTTCCTGGAC	0.468																																						dbGAP											0													135.0	143.0	140.0					7																	107399569		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1422A>C	7.37:g.107399569A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM03|Q8TAJ4|Q9H5S6	Silent	SNP	pfscan_Znf_RING	p.P474	ENST00000440859.3	37	c.1422	CCDS5747.1	7																																																																																			CBLL1	-	NULL	ENSG00000105879		0.468	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	205	0.00	0	A	NM_024814		107399569	107399569	+1	no_errors	ENST00000440859	ensembl	human	known	69_37n	silent	228	11.24	29	SNP	0.984	C
CBR1	873	genome.wustl.edu	37	21	37445034	37445034	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:37445034T>G	ENST00000290349.6	+	3	863	c.688T>G	c.(688-690)Tgg>Ggg	p.W230G	AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	230					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CTGCCCAGGGTGGGTGAGAAC	0.592																																						dbGAP											0													80.0	68.0	73.0					21																	37445034		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.688T>G	21.37:g.37445034T>G	ENSP00000290349:p.Trp230Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.W230G	ENST00000290349.6	37	c.688	CCDS13641.1	21	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669821	0.88348	.	.	ENSG00000159228	ENST00000290349	T	0.09350	2.99	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.69523	2.12	0.80722	D	1	D	0.54601	0.967	P	0.61533	0.89	T	0.01935	-1.1244	10	0.72032	D	0.01	-11.8301	15.7616	0.78087	0.0:0.0:0.0:1.0	.	230	P16152	CBR1_HUMAN	G	230	ENSP00000290349:W230G	ENSP00000290349:W230G	W	+	1	0	CBR1	36366904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	2.121000	0.65114	0.533000	0.62120	TGG	CBR1	-	prints_Glc/ribitol_DH	ENSG00000159228		0.592	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR1	HGNC	protein_coding	OTTHUMT00000194633.2	43	0.00	0	T			37445034	37445034	+1	no_errors	ENST00000290349	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	1.000	G
CBY1	25776	genome.wustl.edu	37	22	39066996	39066996	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:39066996T>G	ENST00000216029.3	+	3	318		c.e3+2		RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)						cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					GGATAGCAGGTGAGCTGCACT	0.527																																						dbGAP											0													127.0	127.0	127.0					22																	39066996		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.184+2T>G	22.37:g.39066996T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4S2|Q66GT6|Q9UIK9	Splice_Site	SNP	-	e2+2	ENST00000216029.3	37	c.184+2	CCDS13974.1	22	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091752	0.76756	.	.	ENSG00000100211	ENST00000396811;ENST00000216029;ENST00000416285	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.19	0.81981	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBY1	37396942	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	7.224000	0.78042	2.225000	0.72522	0.460000	0.39030	.	CBY1	-	-	ENSG00000100211		0.527	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBY1	HGNC	protein_coding	OTTHUMT00000320832.1	71	0.00	0	T	NM_015373	Intron	39066996	39066996	+1	no_errors	ENST00000216029	ensembl	human	known	69_37n	splice_site	79	17.71	17	SNP	1.000	G
CC2D1A	54862	genome.wustl.edu	37	19	14029385	14029385	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:14029385A>C	ENST00000318003.7	+	8	1183	c.942A>C	c.(940-942)ccA>ccC	p.P314P	CC2D1A_ENST00000589606.1_Silent_p.P314P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	314	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCCCCCTCCACCCGGTGAGA	0.592																																						dbGAP											0													38.0	41.0	40.0					19																	14029385		1995	4172	6167	-	-	-	SO:0001819	synonymous_variant	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.942A>C	19.37:g.14029385A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	smart_DM14	p.H160P	ENST00000318003.7	37	c.479	CCDS42512.1	19																																																																																			CC2D1A	-	smart_DM14	ENSG00000132024		0.592	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	42	0.00	0	A	NM_017721		14029385	14029385	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586955	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.999	C
CC2D1A	54862	genome.wustl.edu	37	19	14037405	14037405	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:14037405T>G	ENST00000318003.7	+	18	2255		c.e18+2		CC2D1A_ENST00000589606.1_Splice_Site	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CACCCCCAGGTGAGGGGGCTG	0.627																																						dbGAP											0													79.0	79.0	79.0					19																	14037405		2020	4168	6188	-	-	-	SO:0001630	splice_region_variant	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2014+2T>G	19.37:g.14037405T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Splice_Site	SNP	-	e18+2	ENST00000318003.7	37	c.2014+2	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766002	0.69878	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1197	0.53885	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CC2D1A	13898405	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.115000	0.57865	1.704000	0.51252	0.459000	0.35465	.	CC2D1A	-	-	ENSG00000132024		0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	33	0.00	0	T	NM_017721	Intron	14037405	14037405	+1	no_errors	ENST00000318003	ensembl	human	known	69_37n	splice_site	53	20.90	14	SNP	1.000	G
ACKR2	1238	genome.wustl.edu	37	3	42906995	42906995	+	Missense_Mutation	SNP	A	A	C	rs577087357	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:42906995A>C	ENST00000422265.1	+	3	1176	c.1001A>C	c.(1000-1002)cAc>cCc	p.H334P	ACKR2_ENST00000442925.1_Missense_Mutation_p.H334P|ACKR2_ENST00000273145.2_Missense_Mutation_p.H334P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	334	C-terminal cytoplasmic tail.				chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CTTGGATGGCACCTGGCACCT	0.562																																						dbGAP											0													103.0	88.0	93.0					3																	42906995		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.1001A>C	3.37:g.42906995A>C	ENSP00000416996:p.His334Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.H334P	ENST00000422265.1	37	c.1001	CCDS2706.1	3	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019366	0.35606	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.72615	-0.67;-0.67;-0.67	5.11	-7.56	0.01322	.	7.626570	0.00520	U	0.000182	T	0.47857	0.1468	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	9	.	.	.	.	7.6029	0.28085	0.2071:0.4564:0.3365:0.0	.	334	O00590	CCBP2_HUMAN	P	334	ENSP00000396150:H334P;ENSP00000416996:H334P;ENSP00000273145:H334P	.	H	+	2	0	CCBP2	42881999	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.685000	0.05167	-0.631000	0.05560	0.533000	0.62120	CAC	CCBP2	-	NULL	ENSG00000144648		0.562	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	308	0.00	0	A	NM_001296		42906995	42906995	+1	no_errors	ENST00000273145	ensembl	human	known	69_37n	missense	345	15.78	65	SNP	0.000	C
CCDC129	223075	genome.wustl.edu	37	7	31692330	31692330	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:31692330A>C	ENST00000407970.3	+	14	3060	c.3022A>C	c.(3022-3024)Acc>Ccc	p.T1008P	CCDC129_ENST00000409210.1_Missense_Mutation_p.T916P|CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000319386.3_Missense_Mutation_p.T860P	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1008										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CACTCCACCCACCTTGGAGAA	0.552																																						dbGAP											0													89.0	79.0	82.0					7																	31692330		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.3022A>C	7.37:g.31692330A>C	ENSP00000384416:p.Thr1008Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.T1008P	ENST00000407970.3	37	c.3022	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527948	0.64860	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000538406;ENST00000409210	T;T;T	0.18657	2.2;2.46;2.2	4.38	-4.62	0.03370	.	1.445060	0.04794	N	0.432234	T	0.20333	0.0489	L	0.57536	1.79	0.09310	N	1	B;B;P	0.48294	0.021;0.021;0.908	B;B;B	0.42653	0.038;0.038;0.394	T	0.41840	-0.9486	10	0.51188	T	0.08	6.3516	5.9626	0.19308	0.2409:0.2902:0.4689:0.0	.	1018;1008;860	F5H2J8;Q6ZRS4;Q6ZRS4-2	.;CC129_HUMAN;.	P	860;1008;1018;916	ENSP00000313062:T860P;ENSP00000384416:T1008P;ENSP00000387214:T916P	ENSP00000313062:T860P	T	+	1	0	CCDC129	31658855	0.000000	0.05858	0.000000	0.03702	0.798000	0.45092	-1.559000	0.02162	-0.542000	0.06249	0.528000	0.53228	ACC	CCDC129	-	NULL	ENSG00000180347		0.552	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	149	0.66	1	A	NM_194300		31692330	31692330	+1	no_errors	ENST00000407970	ensembl	human	known	69_37n	missense	140	10.76	17	SNP	0.000	C
CCDC132	55610	genome.wustl.edu	37	7	92970797	92970797	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:92970797T>G	ENST00000305866.5	+	23	2245	c.2117T>G	c.(2116-2118)gTg>gGg	p.V706G	CCDC132_ENST00000544910.1_Missense_Mutation_p.V676G|CCDC132_ENST00000541136.1_Missense_Mutation_p.V517G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.V426G	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	706						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGGAGAAGGTGCCAAGTCCA	0.443																																						dbGAP											0													130.0	137.0	135.0					7																	92970797		1993	4171	6164	-	-	-	SO:0001583	missense	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2117T>G	7.37:g.92970797T>G	ENSP00000307666:p.Val706Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.V706G	ENST00000305866.5	37	c.2117	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879732	0.72294	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.967	D;D;D	0.80764	0.987;0.994;0.95	T	0.80162	-0.1497	9	0.87932	D	0	-3.8622	16.2703	0.82612	0.0:0.0:0.0:1.0	.	426;676;706	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	G	706;676;517;426	.	ENSP00000307666:V706G	V	+	2	0	CCDC132	92808733	1.000000	0.71417	0.937000	0.37676	0.944000	0.59088	7.954000	0.87848	2.311000	0.77944	0.533000	0.62120	GTG	CCDC132	-	NULL	ENSG00000004766		0.443	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	184	0.00	0	T	NM_017667		92970797	92970797	+1	no_errors	ENST00000305866	ensembl	human	known	69_37n	missense	138	19.65	34	SNP	0.999	G
CCDC144CP	348254	genome.wustl.edu	37	17	20245903	20245903	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:20245903A>C	ENST00000583626.1	+	0	301									RNA, 7SL, cytoplasmic 17, pseudogene																		tgggtgaatcacctgaggtca	0.478																																						dbGAP											0																																										-	-	-			0					17p11.2	2013-04-02			ENSG00000266339			"""ncRNAs / Small cytoplasmic RNAs"""	46033	pseudogene	RNA, pseudogene							Standard			Approved						17.37:g.20245903A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000583626.1	37	NULL		17																																																																																			CCDC144C	-	-	ENSG00000154898		0.478	RN7SL17P-201	KNOWN	basic	misc_RNA	CCDC144C	HGNC	misc_RNA		53	0.00	0	A			20245903	20245903	+1	no_errors	ENST00000580574	ensembl	human	known	69_37n	rna	31	24.39	10	SNP	0.019	C
CFAP58	159686	genome.wustl.edu	37	10	106166489	106166489	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:106166489A>C	ENST00000369704.3	+	15	2328	c.2194A>C	c.(2194-2196)Acc>Ccc	p.T732P		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		732						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAAATTCACACCCTGCAGAA	0.468																																						dbGAP											0													158.0	159.0	159.0					10																	106166489		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.2194A>C	10.37:g.106166489A>C	ENSP00000358718:p.Thr732Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.T732P	ENST00000369704.3	37	c.2194	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721818	0.68959	.	.	ENSG00000120051	ENST00000369704	T	0.46063	0.88	6.16	2.65	0.31530	.	0.328312	0.37393	N	0.002107	T	0.43277	0.1240	M	0.73962	2.25	0.80722	D	1	P	0.44281	0.831	B	0.43413	0.419	T	0.22347	-1.0219	10	0.30854	T	0.27	-5.2928	9.3269	0.37999	0.7379:0.0:0.2621:0.0	.	732	Q5T655	CC147_HUMAN	P	732	ENSP00000358718:T732P	ENSP00000358718:T732P	T	+	1	0	CCDC147	106156479	0.032000	0.19561	0.997000	0.53966	0.981000	0.71138	1.444000	0.35068	0.221000	0.20879	0.528000	0.53228	ACC	CCDC147	-	superfamily_Homeodomain-like	ENSG00000120051		0.468	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	292	0.34	1	A			106166489	106166489	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	232	12.45	33	SNP	0.980	C
CCDC15	80071	genome.wustl.edu	37	11	124857166	124857166	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:124857166T>G	ENST00000344762.5	+	8	1303	c.1044T>G	c.(1042-1044)ggT>ggG	p.G348G	CCDC15_ENST00000529051.1_Silent_p.G348G	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	348						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACCCAGGGTGATTTGACAG	0.478																																						dbGAP											0													121.0	115.0	117.0					11																	124857166		1824	4080	5904	-	-	-	SO:0001819	synonymous_variant	0			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1044T>G	11.37:g.124857166T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8U7	Silent	SNP	NULL	p.G348	ENST00000344762.5	37	c.1044	CCDS44756.1	11																																																																																			CCDC15	-	NULL	ENSG00000149548		0.478	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	375	0.26	1	T	NM_025004		124857166	124857166	+1	no_errors	ENST00000344762	ensembl	human	known	69_37n	silent	249	13.70	40	SNP	0.001	G
CCDC158	339965	genome.wustl.edu	37	4	77276580	77276580	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:77276580A>C	ENST00000388914.3	-	14	2335	c.2183T>G	c.(2182-2184)gTg>gGg	p.V728G	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	728										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCCCATTGCCACTTTCATAGC	0.383																																						dbGAP											0													186.0	169.0	174.0					4																	77276580		1872	4105	5977	-	-	-	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2183T>G	4.37:g.77276580A>C	ENSP00000373566:p.Val728Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.V728G	ENST00000388914.3	37	c.2183	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734267	0.48939	.	.	ENSG00000163749	ENST00000388914	D	0.81908	-1.55	5.24	5.24	0.73138	.	0.098086	0.39341	N	0.001385	T	0.82139	0.4972	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80185	-0.1487	10	0.24483	T	0.36	.	12.748	0.57291	1.0:0.0:0.0:0.0	.	728	Q5M9N0	CD158_HUMAN	G	728	ENSP00000373566:V728G	ENSP00000373566:V728G	V	-	2	0	CCDC158	77495604	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.421000	0.59848	2.195000	0.70347	0.533000	0.62120	GTG	CCDC158	-	NULL	ENSG00000163749		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	240	0.00	0	A	NM_001042784		77276580	77276580	-1	no_errors	ENST00000388914	ensembl	human	known	69_37n	missense	210	12.81	31	SNP	1.000	C
DRC1	92749	genome.wustl.edu	37	2	26653667	26653667	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:26653667T>G	ENST00000288710.2	+	6	766	c.692T>G	c.(691-693)gTg>gGg	p.V231G	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	231					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GCATTTGAGGTGGAACGCCAA	0.458																																						dbGAP											0													153.0	160.0	157.0					2																	26653667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.692T>G	2.37:g.26653667T>G	ENSP00000288710:p.Val231Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	NULL	p.V231G	ENST00000288710.2	37	c.692	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	T	9.832	1.188676	0.21954	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	T	0.14022	2.54	5.71	1.58	0.23477	.	1.348840	0.05177	N	0.500531	T	0.10895	0.0266	L	0.29908	0.895	0.21675	N	0.999596	B	0.27853	0.191	B	0.29942	0.109	T	0.39099	-0.9630	10	0.24483	T	0.36	-3.4573	5.376	0.16166	0.1419:0.1681:0.0:0.69	.	231	Q96MC2	CC164_HUMAN	G	231;60	ENSP00000288710:V231G	ENSP00000288710:V231G	V	+	2	0	CCDC164	26507171	0.026000	0.19158	0.078000	0.20375	0.973000	0.67179	0.313000	0.19415	0.454000	0.26884	0.533000	0.62120	GTG	CCDC164	-	NULL	ENSG00000157856		0.458	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	221	0.00	0	T	NM_145038		26653667	26653667	+1	no_errors	ENST00000288710	ensembl	human	known	69_37n	missense	218	10.66	26	SNP	0.061	G
CCDC167	154467	genome.wustl.edu	37	6	37450897	37450897	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:37450897T>G	ENST00000373408.3	-	0	417					NM_138493.2	NP_612502.1	Q9P0B6	CC167_HUMAN	coiled-coil domain containing 167							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						AGGCTTGAAGTGCCTGCTTGA	0.602																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937			21239	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 129"""	C6orf129			Standard	NM_138493		Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.*65A>C	6.37:g.37450897T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7F7|Q9BTQ9	Silent	SNP	NULL	p.A102	ENST00000373408.3	37	c.306	CCDS34441.1	6																																																																																			CCDC167	-	NULL	ENSG00000198937		0.602	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC167	HGNC	protein_coding	OTTHUMT00000040417.1	33	0.00	0	T	NM_138493		37450897	37450897	-1	no_stop_codon	ENST00000411755	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	0.649	G
CCDC18	343099	genome.wustl.edu	37	1	93721980	93721980	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:93721980T>G	ENST00000343253.7	+	25	3930	c.3428T>G	c.(3427-3429)gTg>gGg	p.V1143G	CCDC18_ENST00000401026.3_Missense_Mutation_p.V1144G|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.V1262G			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1143										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGGGAGCAGGTGCAGAACTCT	0.468																																						dbGAP											0													108.0	110.0	110.0					1																	93721980		1946	4122	6068	-	-	-	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3428T>G	1.37:g.93721980T>G	ENSP00000343377:p.Val1143Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.V1262G	ENST00000343253.7	37	c.3785		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.86|14.86	2.662399|2.662399	0.47572|0.47572	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.31|5.31	4.17|4.17	0.49024|0.49024	.|.	.|0.545300	.|0.20664	.|N	.|0.087975	T|T	0.16514|0.16514	0.0397|0.0397	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B	.|0.34757	.|0.467;0.018	.|B;B	.|0.32864	.|0.154;0.013	T|T	0.09487|0.09487	-1.0672|-1.0672	5|9	.|0.66056	.|D	.|0.02	.|.	9.9711|9.9711	0.41754|0.41754	0.1512:0.0:0.0:0.8488|0.1512:0.0:0.0:0.8488	.|.	.|62;1262	.|Q5T9S4;G3V388	.|.;.	G|G	1197|1143;1144;1262	.|.	.|ENSP00000343377:V1143G	C|V	+|+	1|2	0|0	CCDC18|CCDC18	93494568|93494568	0.998000|0.998000	0.40836|0.40836	0.661000|0.661000	0.29709|0.29709	0.967000|0.967000	0.64934|0.64934	3.212000|3.212000	0.51145|0.51145	0.836000|0.836000	0.34901|0.34901	0.533000|0.533000	0.62120|0.62120	TGC|GTG	CCDC18	-	NULL	ENSG00000122483		0.468	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	223	0.00	0	T	NM_206886		93721980	93721980	+1	no_errors	ENST00000557479	ensembl	human	known	69_37n	missense	151	11.70	20	SNP	0.931	G
CCDC36	339834	genome.wustl.edu	37	3	49293985	49293985	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49293985T>G	ENST00000438782.1	+	8	1291	c.1055T>G	c.(1054-1056)gTg>gGg	p.V352G	CCDC36_ENST00000296449.5_Missense_Mutation_p.V352G|CCDC36_ENST00000452691.2_Missense_Mutation_p.V352G			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	352										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AAGGACAAGGTGGTGCAGACT	0.502																																						dbGAP											0													118.0	104.0	109.0					3																	49293985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1055T>G	3.37:g.49293985T>G	ENSP00000391788:p.Val352Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	NULL	p.V352G	ENST00000438782.1	37	c.1055	CCDS33755.2	3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561889	0.27915	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.44482	0.92;0.92;0.92	4.88	3.91	0.45181	.	0.605964	0.15632	N	0.252355	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	10	0.72032	D	0.01	-1.6919	6.2976	0.21095	0.2162:0.6826:0.0:0.1012	.	352	Q8IYA8	CCD36_HUMAN	G	352;352;352;332	ENSP00000296449:V352G;ENSP00000391788:V352G;ENSP00000407837:V352G	ENSP00000296449:V352G	V	+	2	0	CCDC36	49268989	0.015000	0.18098	0.007000	0.13788	0.003000	0.03518	0.083000	0.14871	0.723000	0.32274	-0.349000	0.07799	GTG	CCDC36	-	NULL	ENSG00000173421		0.502	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1	130	0.76	1	T	NM_178173		49293985	49293985	+1	no_errors	ENST00000296449	ensembl	human	known	69_37n	missense	106	16.28	21	SNP	0.005	G
CCDC63	160762	genome.wustl.edu	37	12	111321894	111321894	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:111321894T>G	ENST00000308208.5	+	8	1156	c.914T>G	c.(913-915)gTg>gGg	p.V305G	CCDC63_ENST00000552694.1_Missense_Mutation_p.V226G|CCDC63_ENST00000545036.1_Missense_Mutation_p.V265G	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	305										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGCTATGAGGTGGCCCACCTC	0.493																																						dbGAP											0													129.0	132.0	131.0					12																	111321894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.914T>G	12.37:g.111321894T>G	ENSP00000312399:p.Val305Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.V305G	ENST00000308208.5	37	c.914	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985353	0.74474	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21543	2.0;2.0;2.0	5.68	5.68	0.88126	.	0.185348	0.45606	D	0.000359	T	0.43233	0.1238	M	0.79805	2.47	0.58432	D	0.999997	D	0.63880	0.993	P	0.61533	0.89	T	0.34428	-0.9829	10	0.23302	T	0.38	.	13.3072	0.60359	0.0:0.0:0.0:1.0	.	305	Q8NA47	CCD63_HUMAN	G	265;305;226	ENSP00000445881:V265G;ENSP00000312399:V305G;ENSP00000450217:V226G	ENSP00000312399:V305G	V	+	2	0	CCDC63	109806277	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.455000	0.44988	2.173000	0.68751	0.533000	0.62120	GTG	CCDC63	-	NULL	ENSG00000173093		0.493	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	169	0.58	1	T	NM_152591		111321894	111321894	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	missense	201	11.74	27	SNP	1.000	G
CCDC67	159989	genome.wustl.edu	37	11	93148214	93148214	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:93148214A>C	ENST00000298050.3	+	13	1672	c.1572A>C	c.(1570-1572)ccA>ccC	p.P524P	CCDC67_ENST00000525646.1_Silent_p.P266P	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	524					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTCCCTTGCCACCTTCGACAT	0.398																																						dbGAP											0													227.0	211.0	216.0					11																	93148214		1935	4134	6069	-	-	-	SO:0001819	synonymous_variant	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1572A>C	11.37:g.93148214A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEF1|Q96LL7	Silent	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.P524	ENST00000298050.3	37	c.1572	CCDS44707.1	11																																																																																			CCDC67	-	NULL	ENSG00000165325		0.398	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		191	0.00	0	A	NM_181645		93148214	93148214	+1	no_errors	ENST00000298050	ensembl	human	known	69_37n	silent	145	16.57	29	SNP	0.003	C
CCDC69	26112	genome.wustl.edu	37	5	150578644	150578644	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150578644A>C	ENST00000355417.2	-	4	407	c.233T>G	c.(232-234)gTg>gGg	p.V78G	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	78										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCTCCACCTGGGGGCA	0.557																																						dbGAP											0													151.0	138.0	143.0					5																	150578644		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.232-1T>G	5.37:g.150578644A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X6	Missense_Mutation	SNP	superfamily_ER_p29_C	p.V78G	ENST00000355417.2	37	c.233	CCDS4312.1	5	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939935	0.52972	.	.	ENSG00000198624	ENST00000355417	T	0.10099	2.91	4.94	4.94	0.65067	.	0.000000	0.47093	D	0.000255	T	0.23054	0.0557	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.01218	-1.1415	10	0.28530	T	0.3	-32.0462	10.8981	0.47034	1.0:0.0:0.0:0.0	.	78	A6NI79	CCD69_HUMAN	G	78	ENSP00000347586:V78G	ENSP00000347586:V78G	V	-	2	0	CCDC69	150558837	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	2.448000	0.44926	2.060000	0.61445	0.402000	0.26972	GTG	CCDC69	-	NULL	ENSG00000198624		0.557	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC69	HGNC	protein_coding	OTTHUMT00000252435.1	137	0.72	1	A	NM_015621	Missense_Mutation	150578644	150578644	-1	no_errors	ENST00000355417	ensembl	human	known	69_37n	missense	149	20.32	38	SNP	1.000	C
CCHCR1	54535	genome.wustl.edu	37	6	31112541	31112541	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31112541A>C	ENST00000376266.5	-	15	1945	c.1823T>G	c.(1822-1824)gTg>gGg	p.V608G	CCHCR1_ENST00000396268.3_Missense_Mutation_p.V697G|CCHCR1_ENST00000396263.2_Missense_Mutation_p.V555G|CCHCR1_ENST00000451521.2_Missense_Mutation_p.V661G	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	608					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCGAGTTTCCACTTCAGCCAC	0.602																																						dbGAP											0													128.0	133.0	131.0					6																	31112541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1823T>G	6.37:g.31112541A>C	ENSP00000365442:p.Val608Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.V697G	ENST00000376266.5	37	c.2090	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923012	0.73213	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.96	4.96	0.65561	.	0.408197	0.20688	N	0.087520	T	0.11965	0.0291	M	0.69823	2.125	0.53688	D	0.999979	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.79784	0.972;0.993;0.929;0.958;0.952	T	0.10154	-1.0642	10	0.24483	T	0.36	-13.0322	10.9963	0.47578	1.0:0.0:0.0:0.0	.	608;608;608;661;697	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	G	697;608;555;608;661	ENSP00000379566:V697G;ENSP00000365442:V608G;ENSP00000379561:V555G;ENSP00000401039:V661G	ENSP00000365442:V608G	V	-	2	0	CCHCR1	31220520	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.840000	0.55843	1.871000	0.54225	0.368000	0.22195	GTG	CCHCR1	-	pfam_HCR	ENSG00000204536		0.602	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	154	0.00	0	A	NM_019052		31112541	31112541	-1	no_errors	ENST00000396268	ensembl	human	known	69_37n	missense	105	17.32	22	SNP	1.000	C
CCIN	881	genome.wustl.edu	37	9	36170027	36170027	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:36170027A>C	ENST00000335119.2	+	1	639	c.528A>C	c.(526-528)ccA>ccC	p.P176P		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	176	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGCGCTGTCCACCTGTTATCT	0.537																																						dbGAP											0													61.0	59.0	60.0					9																	36170027		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.528A>C	9.37:g.36170027A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXG7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P176	ENST00000335119.2	37	c.528	CCDS6599.1	9																																																																																			CCIN	-	pfam_BACK,smart_BACK	ENSG00000185972		0.537	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	80	0.00	0	A	NM_005893		36170027	36170027	+1	no_errors	ENST00000335119	ensembl	human	known	69_37n	silent	43	15.69	8	SNP	0.379	C
CCKAR	886	genome.wustl.edu	37	4	26483742	26483742	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:26483742A>C	ENST00000295589.3	-	5	999	c.805T>G	c.(805-807)Tgt>Ggt	p.C269G		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	269					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCAGGTAACACCCATCGCTG	0.612																																						dbGAP											0													75.0	79.0	77.0					4																	26483742		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.805T>G	4.37:g.26483742A>C	ENSP00000295589:p.Cys269Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Z5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.C269G	ENST00000295589.3	37	c.805	CCDS3438.1	4	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712241	0.48517	.	.	ENSG00000163394	ENST00000295589	T	0.52983	0.64	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.60444	-0.7262	10	0.15952	T	0.53	.	15.079	0.72099	1.0:0.0:0.0:0.0	.	269	P32238	CCKAR_HUMAN	G	269	ENSP00000295589:C269G	ENSP00000295589:C269G	C	-	1	0	CCKAR	26092840	1.000000	0.71417	0.329000	0.25429	0.022000	0.10575	7.306000	0.78905	1.978000	0.57642	0.379000	0.24179	TGT	CCKAR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Cholcskin_rcpt	ENSG00000163394		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	HGNC	protein_coding	OTTHUMT00000250418.2	109	0.00	0	A			26483742	26483742	-1	no_errors	ENST00000295589	ensembl	human	known	69_37n	missense	57	23.68	18	SNP	0.995	C
CCKBR	887	genome.wustl.edu	37	11	6292390	6292390	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6292390A>C	ENST00000334619.2	+	5	1154	c.961A>C	c.(961-963)Acc>Ccc	p.T321P	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Missense_Mutation_p.T390P|CCKBR_ENST00000532715.1_Missense_Mutation_p.T237P	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	321					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTCCCGGCCCACCCAGGCCAA	0.607																																						dbGAP											0													88.0	79.0	82.0					11																	6292390		2198	4292	6490	-	-	-	SO:0001583	missense	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.961A>C	11.37:g.6292390A>C	ENSP00000335544:p.Thr321Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T390P	ENST00000334619.2	37	c.1168	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097645	0.20552	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72167	-0.63;-0.63;1.17	4.87	-9.73	0.00512	GPCR, rhodopsin-like superfamily (1);	1.021290	0.07770	N	0.951619	T	0.40670	0.1126	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.20577	0.03;0.0;0.001	T	0.38112	-0.9676	10	0.33141	T	0.24	.	6.4456	0.21875	0.3706:0.0:0.381:0.2484	.	390;255;321	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	P	321;237;390	ENSP00000335544:T321P;ENSP00000432079:T237P;ENSP00000435534:T390P	ENSP00000335544:T321P	T	+	1	0	CCKBR	6248966	0.000000	0.05858	0.000000	0.03702	0.541000	0.35023	0.413000	0.21148	-3.030000	0.00266	-1.338000	0.01255	ACC	CCKBR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000110148		0.607	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	51	0.00	0	A	NM_176875		6292390	6292390	+1	no_errors	ENST00000525462	ensembl	human	known	69_37n	missense	75	16.48	15	SNP	0.000	C
CCL26	10344	genome.wustl.edu	37	7	75399054	75399054	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:75399054A>C	ENST00000394905.2	-	4	499	c.242T>G	c.(241-243)gTg>gGg	p.V81G	CCL26_ENST00000005180.4_Missense_Mutation_p.V81G	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	81					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(3)	3						GTATTTTTGCACCCATTTTTT	0.438																																						dbGAP											0													146.0	131.0	136.0					7																	75399054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.242T>G	7.37:g.75399054A>C	ENSP00000378365:p.Val81Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0Q5|Q52LV8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.V81G	ENST00000394905.2	37	c.242	CCDS5578.1	7	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169532	0.57584	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	T;T	0.10668	2.85;2.85	3.39	2.25	0.28309	Chemokine interleukin-8-like domain (3);	0.342015	0.20884	N	0.083955	T	0.25195	0.0612	.	.	.	0.54753	D	0.99998	D	0.89917	1.0	D	0.87578	0.998	T	0.02115	-1.1211	9	0.87932	D	0	.	4.7347	0.12982	0.8539:0.0:0.1461:0.0	.	81	Q9Y258	CCL26_HUMAN	G	81	ENSP00000005180:V81G;ENSP00000378365:V81G	ENSP00000005180:V81G	V	-	2	0	CCL26	75236990	0.608000	0.26966	0.967000	0.41034	0.315000	0.28087	0.596000	0.24044	1.562000	0.49601	0.374000	0.22700	GTG	CCL26	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000006606		0.438	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCL26	HGNC	protein_coding	OTTHUMT00000344900.1	35	0.00	0	A	NM_006072		75399054	75399054	-1	no_errors	ENST00000005180	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	0.862	C
CCNK	8812	genome.wustl.edu	37	14	99973477	99973477	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:99973477A>C	ENST00000389879.5	+	10	1233	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P	CCNK_ENST00000555049.1_Silent_p.P370P	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	370					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CAGCCCACCCACCTCCAGGTA	0.512																																						dbGAP											0													157.0	163.0	161.0					14																	99973477		2014	4174	6188	-	-	-	SO:0001819	synonymous_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1110A>C	14.37:g.99973477A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P370	ENST00000389879.5	37	c.1110	CCDS45160.1	14																																																																																			CCNK	-	NULL	ENSG00000090061		0.512	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	148	0.00	0	A			99973477	99973477	+1	no_errors	ENST00000389879	ensembl	human	known	69_37n	silent	101	16.39	20	SNP	0.996	C
CCNY	219771	genome.wustl.edu	37	10	35818948	35818948	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:35818948A>C	ENST00000374704.4	+	6	629	c.449A>C	c.(448-450)cAc>cCc	p.H150P	CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Missense_Mutation_p.H125P|CCNY_ENST00000374706.1_Missense_Mutation_p.H96P|CCNY_ENST00000265375.9_Missense_Mutation_p.H96P	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	150	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GAAAATCTTCACCCTCTTTCG	0.368																																						dbGAP											0													173.0	173.0	173.0					10																	35818948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.449A>C	10.37:g.35818948A>C	ENSP00000363836:p.His150Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	p.H150P	ENST00000374704.4	37	c.449	CCDS7189.1	10	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203722	0.79127	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.35236	1.35;1.32;1.39;1.35	5.91	4.77	0.60923	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.994;1.0	T	0.75833	-0.3178	10	0.87932	D	0	-0.1576	13.3699	0.60707	0.8685:0.1315:0.0:0.0	.	17;125;150	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	P	96;150;150;125;96;17	ENSP00000363838:H96P;ENSP00000363836:H150P;ENSP00000344275:H125P;ENSP00000265375:H96P	ENSP00000265375:H96P	H	+	2	0	CCNY	35858954	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.957000	0.93082	1.040000	0.40099	-0.313000	0.08912	CAC	CCNY	-	superfamily_Cyclin-like,pirsf_Cyclin_Y	ENSG00000108100		0.368	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNY	HGNC	protein_coding	OTTHUMT00000047568.2	281	0.00	0	A	NM_181698		35818948	35818948	+1	no_errors	ENST00000374704	ensembl	human	known	69_37n	missense	214	14.00	35	SNP	1.000	C
CCR1	1230	genome.wustl.edu	37	3	46245261	46245261	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:46245261T>G	ENST00000296140.3	-	2	669	c.544A>C	c.(544-546)Acc>Ccc	p.T182P	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	182					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGCTGCAGGTGTGGTGAGTG	0.493																																						dbGAP											0													84.0	82.0	83.0					3																	46245261		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.544A>C	3.37:g.46245261T>G	ENSP00000296140:p.Thr182Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VA9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.T182P	ENST00000296140.3	37	c.544	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796363	0.31777	.	.	ENSG00000163823	ENST00000296140	T	0.38240	1.15	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	1.965890	0.02003	N	0.046456	T	0.63295	0.2499	M	0.88181	2.935	0.21762	N	0.999558	P	0.41978	0.767	P	0.51550	0.673	T	0.45527	-0.9255	10	0.66056	D	0.02	.	9.7787	0.40634	0.0:0.0776:0.0:0.9224	.	182	P32246	CCR1_HUMAN	P	182	ENSP00000296140:T182P	ENSP00000296140:T182P	T	-	1	0	CCR1	46220265	0.995000	0.38212	0.879000	0.34478	0.009000	0.06853	3.258000	0.51507	2.083000	0.62718	0.523000	0.50628	ACC	CCR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_Chemokine_CCR5	ENSG00000163823		0.493	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	247	0.40	1	T	NM_001295		46245261	46245261	-1	no_errors	ENST00000296140	ensembl	human	known	69_37n	missense	163	12.30	23	SNP	0.478	G
CCRL2	9034	genome.wustl.edu	37	3	46450531	46450531	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:46450531A>C	ENST00000399036.3	+	2	1313	c.961A>C	c.(961-963)Acc>Ccc	p.T321P	CCRL2_ENST00000400882.2_Missense_Mutation_p.T321P|CCRL2_ENST00000400880.3_Missense_Mutation_p.T321P|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.T333P	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	321					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GCGTAGTAACACCCCACTTCA	0.517																																						dbGAP											0													138.0	141.0	140.0					3																	46450531		2112	4231	6343	-	-	-	SO:0001583	missense	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.961A>C	3.37:g.46450531A>C	ENSP00000381994:p.Thr321Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.T333P	ENST00000399036.3	37	c.997	CCDS43079.1	3	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981193	0.53827	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.98	-4.5	0.03493	.	232.683000	0.00357	U	0.000035	T	0.29945	0.0749	L	0.27053	0.805	0.09310	N	1	D;P	0.53745	0.962;0.838	P;P	0.51355	0.667;0.466	T	0.23154	-1.0196	10	0.33940	T	0.23	.	1.7047	0.02879	0.3137:0.2531:0.3097:0.1234	.	333;321	O00421-2;O00421	.;CCRL2_HUMAN	P	321;333;321;321	ENSP00000381994:T321P;ENSP00000349967:T333P;ENSP00000383677:T321P;ENSP00000383678:T321P	ENSP00000349967:T333P	T	+	1	0	CCRL2	46425535	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.531000	0.06171	-1.199000	0.02666	0.477000	0.44152	ACC	CCRL2	-	NULL	ENSG00000121797		0.517	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	296	0.00	0	A			46450531	46450531	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	missense	210	19.47	51	SNP	0.000	C
CCT8	10694	genome.wustl.edu	37	21	30432943	30432943	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:30432943A>C	ENST00000286788.4	-	14	1694	c.1488T>G	c.(1486-1488)ggT>ggG	p.G496G	CCT8_ENST00000542732.1_Silent_p.G477G|CCT8_ENST00000540844.1_Silent_p.G423G|CCT8_ENST00000470450.1_5'UTR|AF129075.5_ENST00000457162.2_RNA	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	496					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TATCTAGAATACCAGCTTCCA	0.388																																						dbGAP											0													129.0	117.0	121.0					21																	30432943		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1488T>G	21.37:g.30432943A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.Y55D	ENST00000286788.4	37	c.163	CCDS33528.1	21	.	.	.	.	.	.	.	.	.	.	A	7.355	0.623671	0.14193	.	.	ENSG00000156261	ENST00000432178	.	.	.	5.34	-1.13	0.09775	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	4	.	.	.	-17.4026	6.1253	0.20176	0.4662:0.2315:0.3023:0.0	.	.	.	.	D	55	.	.	Y	-	1	0	CCT8	29354814	0.982000	0.34865	0.115000	0.21578	0.949000	0.60115	0.349000	0.20055	-0.051000	0.13334	-1.234000	0.01563	TAT	CCT8	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000156261		0.388	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	149	0.67	1	A			30432943	30432943	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000432178	ensembl	human	putative	69_37n	missense	111	15.91	21	SNP	0.145	C
CD163L1	283316	genome.wustl.edu	37	12	7559417	7559417	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:7559417A>C	ENST00000313599.3	-	5	855	c.798T>G	c.(796-798)ggT>ggG	p.G266G	CD163L1_ENST00000416109.2_Silent_p.G276G|CD163L1_ENST00000396630.1_Silent_p.G266G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	266	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGTTAGTTCCACCTACAAGCC	0.453																																						dbGAP											0													179.0	162.0	168.0					12																	7559417		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.798T>G	12.37:g.7559417A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.G266	ENST00000313599.3	37	c.798	CCDS8577.1	12																																																																																			CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.453	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	162	0.00	0	A	NM_174941		7559417	7559417	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	silent	175	17.84	38	SNP	0.002	C
CD163L1	283316	genome.wustl.edu	37	12	7586250	7586250	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:7586250A>C	ENST00000313599.3	-	3	222	c.165T>G	c.(163-165)ggT>ggG	p.G55G	CD163L1_ENST00000416109.2_Silent_p.G55G|CD163L1_ENST00000396630.1_Silent_p.G55G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	55	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGAGCAGGGACCGTCTCCAT	0.478																																						dbGAP											0													171.0	132.0	145.0					12																	7586250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.165T>G	12.37:g.7586250A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.G55	ENST00000313599.3	37	c.165	CCDS8577.1	12																																																																																			CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.478	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	277	0.72	2	A	NM_174941		7586250	7586250	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	silent	178	16.74	36	SNP	0.000	C
CD163L1	283316	genome.wustl.edu	37	12	7586263	7586263	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:7586263A>C	ENST00000313599.3	-	3	209	c.152T>G	c.(151-153)gTc>gGc	p.V51G	CD163L1_ENST00000416109.2_Missense_Mutation_p.V51G|CD163L1_ENST00000396630.1_Missense_Mutation_p.V51G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	51	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCTCCATTGACCAGCCTCAA	0.468																																						dbGAP											0													142.0	115.0	124.0					12																	7586263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.152T>G	12.37:g.7586263A>C	ENSP00000315945:p.Val51Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.V51G	ENST00000313599.3	37	c.152	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	4.882	0.163855	0.09287	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.41758	0.99;0.99;0.99	2.22	-4.45	0.03546	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.887860	0.03977	U	0.292666	T	0.47451	0.1446	M	0.87328	2.875	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.42396	-0.9454	10	0.72032	D	0.01	.	6.9536	0.24558	0.6734:0.1785:0.1481:0.0	.	51;51	E7EVK4;Q9NR16	.;C163B_HUMAN	G	51	ENSP00000315945:V51G;ENSP00000393474:V51G;ENSP00000379871:V51G	ENSP00000315945:V51G	V	-	2	0	CD163L1	7477530	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.041000	0.12084	-2.414000	0.00569	-0.468000	0.05107	GTC	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.468	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	253	0.39	1	A	NM_174941		7586263	7586263	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	184	18.94	43	SNP	0.000	C
CD163	9332	genome.wustl.edu	37	12	7647966	7647966	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:7647966A>C	ENST00000359156.4	-	6	1333	c.1131T>G	c.(1129-1131)ggT>ggG	p.G377G	CD163_ENST00000396620.3_Silent_p.G377G|CD163_ENST00000541972.1_Silent_p.G365G|CD163_ENST00000432237.2_Silent_p.G377G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	377	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCTGCCTCCACCTCTAAGTC	0.458																																						dbGAP											0													99.0	93.0	95.0					12																	7647966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1131T>G	12.37:g.7647966A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.G377	ENST00000359156.4	37	c.1131	CCDS8578.1	12																																																																																			CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177575		0.458	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	155	0.64	1	A	NM_004244, NM_203416		7647966	7647966	-1	no_errors	ENST00000359156	ensembl	human	known	69_37n	silent	227	15.30	41	SNP	0.999	C
CD180	4064	genome.wustl.edu	37	5	66492438	66492438	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:66492438A>C	ENST00000256447.4	-	1	189	c.32T>G	c.(31-33)gTg>gGg	p.V11G		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	11					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAACAGCACCACCCAAAAGAA	0.468																																						dbGAP											0													169.0	171.0	171.0					5																	66492438		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.32T>G	5.37:g.66492438A>C	ENSP00000256447:p.Val11Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V11G	ENST00000256447.4	37	c.32	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467970	0.26335	.	.	ENSG00000134061	ENST00000256447	T	0.38077	1.16	4.99	0.0394	0.14204	.	0.579426	0.16824	N	0.198053	T	0.27594	0.0678	L	0.54323	1.7	0.22610	N	0.998932	B	0.26935	0.164	B	0.22601	0.04	T	0.17137	-1.0379	10	0.26408	T	0.33	.	7.9422	0.29965	0.6308:0.0:0.3692:0.0	.	11	Q99467	CD180_HUMAN	G	11	ENSP00000256447:V11G	ENSP00000256447:V11G	V	-	2	0	CD180	66528194	0.002000	0.14202	0.032000	0.17829	0.081000	0.17604	-0.280000	0.08468	0.080000	0.16959	-0.462000	0.05337	GTG	CD180	-	NULL	ENSG00000134061		0.468	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	258	0.39	1	A	NM_005582		66492438	66492438	-1	no_errors	ENST00000256447	ensembl	human	known	69_37n	missense	208	13.33	32	SNP	0.053	C
CD19	930	genome.wustl.edu	37	16	28943404	28943404	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:28943404T>G	ENST00000324662.3	+	1	127	c.83T>G	c.(82-84)gTg>gGg	p.V28G	CD19_ENST00000538922.1_Missense_Mutation_p.V28G|CD19_ENST00000567541.1_Missense_Mutation_p.V28G			P15391	CD19_HUMAN	CD19 molecule	28	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GTGGTGAAGGTGGAAGGTATG	0.567																																						dbGAP											0													124.0	112.0	116.0					16																	28943404		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.83T>G	16.37:g.28943404T>G	ENSP00000313419:p.Val28Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.V28G	ENST00000324662.3	37	c.83	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225109	0.58668	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.17054	2.3;2.3	5.24	2.94	0.34122	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.501640	0.16609	N	0.206961	T	0.15219	0.0367	L	0.27053	0.805	0.48236	D	0.99961	P;P	0.38300	0.573;0.626	B;P	0.45232	0.343;0.474	T	0.05666	-1.0871	10	0.87932	D	0	-7.6563	6.1165	0.20130	0.0:0.2452:0.0:0.7548	.	28;28	F5H635;P15391	.;CD19_HUMAN	G	28;13;28	ENSP00000437940:V28G;ENSP00000313419:V28G	ENSP00000313419:V28G	V	+	2	0	CD19	28850905	0.867000	0.29959	0.987000	0.45799	0.621000	0.37620	0.348000	0.20031	0.852000	0.35287	0.456000	0.33151	GTG	CD19	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000177455		0.567	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	189	0.52	1	T			28943404	28943404	+1	no_errors	ENST00000538922	ensembl	human	known	69_37n	missense	197	14.29	33	SNP	0.989	G
CD2	914	genome.wustl.edu	37	1	117311360	117311360	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:117311360T>C	ENST00000369478.3	+	5	1119	c.1011T>C	c.(1009-1011)ccT>ccC	p.P337P		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	337	Pro-rich.				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)	AGCCAAAACCTCCCCATGGGG	0.517																																					NSCLC(14;263 555 26380 43512 51332)	dbGAP											0													71.0	80.0	77.0					1																	117311360		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1011T>C	1.37:g.117311360T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TE5	Silent	SNP	pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2	p.P337	ENST00000369478.3	37	c.1011	CCDS889.1	1																																																																																			CD2	-	NULL	ENSG00000116824		0.517	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	HGNC	protein_coding	OTTHUMT00000059039.2	149	0.00	0	T	NM_001767		117311360	117311360	+1	no_errors	ENST00000369478	ensembl	human	known	69_37n	silent	769	10.09	87	SNP	0.112	C
CD28	940	genome.wustl.edu	37	2	204599576	204599576	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:204599576A>C	ENST00000324106.8	+	4	753	c.604A>C	c.(604-606)Acc>Ccc	p.T202P	CD28_ENST00000374481.3_Missense_Mutation_p.T118P|CD28_ENST00000458610.2_Missense_Mutation_p.T216P|CD28_ENST00000374478.4_Missense_Mutation_p.T83P	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	202					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CCCCGGGCCCACCCGCAAGCA	0.627																																						dbGAP											0													65.0	72.0	69.0					2																	204599576		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.604A>C	2.37:g.204599576A>C	ENSP00000324890:p.Thr202Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28	p.T202P	ENST00000324106.8	37	c.604	CCDS2361.1	2	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776136	0.49786	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.95	4.95	0.65309	.	0.281172	0.28809	N	0.014077	D	0.88731	0.6516	M	0.78223	2.4	0.25209	N	0.989998	D;D	0.89917	1.0;0.974	D;P	0.74348	0.983;0.719	T	0.82468	-0.0442	10	0.72032	D	0.01	-10.3792	13.1322	0.59389	1.0:0.0:0.0:0.0	.	83;202	P10747-2;P10747	.;CD28_HUMAN	P	118;216;202;83	ENSP00000363605:T118P;ENSP00000393648:T216P;ENSP00000324890:T202P;ENSP00000363602:T83P	ENSP00000324890:T202P	T	+	1	0	CD28	204307821	0.998000	0.40836	0.958000	0.39756	0.113000	0.19764	3.140000	0.50585	1.974000	0.57490	0.533000	0.62120	ACC	CD28	-	prints_CD28	ENSG00000178562		0.627	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD28	HGNC	protein_coding	OTTHUMT00000256366.3	135	0.74	1	A	NM_006139		204599576	204599576	+1	no_errors	ENST00000324106	ensembl	human	known	69_37n	missense	131	12.67	19	SNP	0.355	C
CD2AP	23607	genome.wustl.edu	37	6	47563748	47563748	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:47563748A>C	ENST00000359314.5	+	12	1716	c.1260A>C	c.(1258-1260)ccA>ccC	p.P420P		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	420	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTCCTCCACCACCTCCTATAG	0.413																																						dbGAP											0													134.0	141.0	139.0					6																	47563748		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1260A>C	6.37:g.47563748A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL34|Q5VYA3|Q9UG97	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.P420	ENST00000359314.5	37	c.1260	CCDS34472.1	6																																																																																			CD2AP	-	NULL	ENSG00000198087		0.413	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	HGNC	protein_coding	OTTHUMT00000040817.2	732	0.41	3	A			47563748	47563748	+1	no_errors	ENST00000359314	ensembl	human	known	69_37n	silent	510	19.62	125	SNP	0.995	C
CD37	951	genome.wustl.edu	37	19	49842126	49842126	+	Missense_Mutation	SNP	A	A	C	rs115652338	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:49842126A>C	ENST00000323906.4	+	6	758	c.617A>C	c.(616-618)cAc>cCc	p.H206P	CD37_ENST00000535669.2_Missense_Mutation_p.H206P|CD37_ENST00000598095.1_Missense_Mutation_p.H138P|CD37_ENST00000426897.2_Missense_Mutation_p.H138P|CTC-301O7.4_ENST00000358234.4_lincRNA	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	206					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		AGGCTTGGACACCTGGCGCGG	0.607																																						dbGAP											0													73.0	63.0	67.0					19																	49842126		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.617A>C	19.37:g.49842126A>C	ENSP00000325708:p.His206Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC1|Q3KPF9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.H206P	ENST00000323906.4	37	c.617	CCDS12760.1	19	.	.	.	.	.	.	.	.	.	.	A	6.307	0.424765	0.11987	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	T;T;T	0.20738	2.1;2.05;2.1	2.83	0.561	0.17285	Tetraspanin, EC2 domain (1);	0.432236	0.17243	N	0.181469	T	0.04452	0.0122	N	0.00289	-1.7	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39961	-0.9588	10	0.34782	T	0.22	.	7.4136	0.27032	0.48:0.52:0.0:0.0	.	138;206;206;206	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	P	206;138;206	ENSP00000325708:H206P;ENSP00000413151:H138P;ENSP00000441037:H206P	ENSP00000325708:H206P	H	+	2	0	CD37	54533938	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.077000	0.11394	0.218000	0.20820	-0.782000	0.03352	CAC	CD37	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000104894		0.607	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD37	HGNC	protein_coding	OTTHUMT00000465532.1	79	0.00	0	A			49842126	49842126	+1	no_errors	ENST00000323906	ensembl	human	known	69_37n	missense	41	28.07	16	SNP	0.001	C
CD37	951	genome.wustl.edu	37	19	49842690	49842690	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:49842690A>C	ENST00000323906.4	+	7	909				CD37_ENST00000535669.2_Missense_Mutation_p.H263P|CD37_ENST00000598095.1_Missense_Mutation_p.H195P|CD37_ENST00000426897.2_Intron|CTC-301O7.4_ENST00000358234.4_lincRNA	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule						defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCCGCCCCCACCCGCGATCG	0.647																																						dbGAP											0													73.0	77.0	76.0					19																	49842690		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.768+20A>C	19.37:g.49842690A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC1|Q3KPF9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.H263P	ENST00000323906.4	37	c.788	CCDS12760.1	19	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743508	0.30865	.	.	ENSG00000104894	ENST00000535669	T	0.20200	2.09	4.25	-1.47	0.08772	.	.	.	.	.	T	0.10380	0.0254	.	.	.	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	7	.	.	.	.	6.8089	0.23792	0.2737:0.5731:0.0:0.1533	.	195;263;263	B4DVC1;B7ZAN3;B4DW15	.;.;.	P	263	ENSP00000441037:H263P	.	H	+	2	0	CD37	54534502	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.454000	0.06770	0.080000	0.16959	0.391000	0.25812	CAC	CD37	-	NULL	ENSG00000104894		0.647	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD37	HGNC	protein_coding	OTTHUMT00000465532.1	107	0.90	1	A			49842690	49842690	+1	no_errors	ENST00000535669	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	0.000	C
CD44	960	genome.wustl.edu	37	11	35227752	35227752	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:35227752A>C	ENST00000428726.2	+	11	1499	c.1376A>C	c.(1375-1377)cAc>cCc	p.H459P	CD44_ENST00000526669.2_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.H416P|CD44_ENST00000352818.4_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.H459P|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.H416P|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H460P	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	459	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CCAATCTCACACCCCATGGGA	0.468																																						dbGAP											0													213.0	178.0	190.0					11																	35227752		2202	4298	6500	-	-	-	SO:0001583	missense	0			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1376A>C	11.37:g.35227752A>C	ENSP00000398632:p.His459Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.H459P	ENST00000428726.2	37	c.1376	CCDS7897.1	11	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846551	0.32606	.	.	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110	T;T;T;T;T;T;T	0.24151	2.3;2.16;2.27;2.15;2.3;1.87;1.93	4.76	3.64	0.41730	.	0.079859	0.52532	D	0.000079	T	0.45256	0.1333	M	0.73598	2.24	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71656	0.974;0.942	T	0.39643	-0.9604	10	0.72032	D	0.01	-12.052	7.087	0.25264	0.8992:0.0:0.1008:0.0	.	416;459	P16070-4;P16070	.;CD44_HUMAN	P	416;460;416;459;459;233;171	ENSP00000389830:H416P;ENSP00000414567:H460P;ENSP00000391008:H416P;ENSP00000403990:H459P;ENSP00000398632:H459P;ENSP00000432405:H233P;ENSP00000436549:H171P	ENSP00000389830:H416P	H	+	2	0	CD44	35184328	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.532000	0.45659	0.962000	0.38057	0.533000	0.62120	CAC	CD44	-	NULL	ENSG00000026508		0.468	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	169	0.00	0	A	NM_000610		35227752	35227752	+1	no_errors	ENST00000428726	ensembl	human	known	69_37n	missense	172	14.00	28	SNP	1.000	C
CD3E	916	genome.wustl.edu	37	11	118183471	118183471	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118183471A>C	ENST00000361763.4	+	6	533	c.242A>C	c.(241-243)cAc>cCc	p.H81P	CD3E_ENST00000528600.1_Missense_Mutation_p.H75P	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	81	Ig-like.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GATGAGGATCACCTGTCACTG	0.418																																						dbGAP											0													154.0	143.0	147.0					11																	118183471		2200	4296	6496	-	-	-	SO:0001583	missense	0			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.242A>C	11.37:g.118183471A>C	ENSP00000354566:p.His81Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K997	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.H81P	ENST00000361763.4	37	c.242	CCDS31685.1	11	.	.	.	.	.	.	.	.	.	.	A	8.856	0.945815	0.18356	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.21361	2.01;2.01	4.27	-6.07	0.02158	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	3.511760	0.00397	N	0.000047	T	0.13243	0.0321	L	0.34521	1.04	0.09310	N	1	B;B	0.24963	0.001;0.115	B;B	0.25140	0.002;0.058	T	0.13980	-1.0489	10	0.39692	T	0.17	.	1.6059	0.02684	0.2107:0.3052:0.0878:0.3962	.	81;81	B4DVW0;P07766	.;CD3E_HUMAN	P	81;75	ENSP00000354566:H81P;ENSP00000433975:H75P	ENSP00000354566:H81P	H	+	2	0	CD3E	117688681	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.406000	0.02490	-1.080000	0.03109	-0.261000	0.10672	CAC	CD3E	-	smart_Ig_sub2	ENSG00000198851		0.418	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD3E	HGNC	protein_coding	OTTHUMT00000392120.1	293	0.00	0	A	NM_000733		118183471	118183471	+1	no_errors	ENST00000361763	ensembl	human	known	69_37n	missense	226	10.63	27	SNP	0.000	C
CD96	10225	genome.wustl.edu	37	3	111298154	111298154	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:111298154A>C	ENST00000283285.5	+	5	930				CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGAGGAAGCACCCTATTATG	0.517									Opitz Trigonocephaly syndrome																													dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.799+73A>C	3.37:g.111298154A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPB3	Silent	SNP	NULL	p.A116	ENST00000283285.5	37	c.348	CCDS2959.1	3																																																																																			CD96	-	NULL	ENSG00000153283		0.517	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	74	0.00	0	A			111298154	111298154	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465428	ensembl	human	putative	69_37n	silent	39	36.51	23	SNP	0.000	C
CD86	942	genome.wustl.edu	37	3	121825334	121825334	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:121825334A>C	ENST00000330540.2	+	4	806	c.690A>C	c.(688-690)tcA>tcC	p.S230S	CD86_ENST00000493101.1_Silent_p.S118S|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Silent_p.S224S|CD86_ENST00000469710.1_Silent_p.S148S	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	230					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TTTTATCTTCACCTTTCTCTA	0.413																																					GBM(67;1379 1389 36064 39806)	dbGAP											0													157.0	151.0	153.0					3																	121825334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.690A>C	3.37:g.121825334A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T226P	ENST00000330540.2	37	c.676	CCDS3009.1	3	.	.	.	.	.	.	.	.	.	.	A	4.846	0.157233	0.09236	.	.	ENSG00000114013	ENST00000478741	.	.	.	5.34	1.65	0.23941	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22730	-1.0208	4	.	.	.	9.1645	6.8184	0.23843	0.7317:0.0:0.2683:0.0	.	.	.	.	P	226	.	.	T	+	1	0	CD86	123308024	0.002000	0.14202	0.064000	0.19789	0.131000	0.20780	0.728000	0.26013	0.527000	0.28560	0.528000	0.53228	ACC	CD86	-	NULL	ENSG00000114013		0.413	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	HGNC	protein_coding	OTTHUMT00000355671.1	263	0.75	2	A	NM_006889		121825334	121825334	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000478741	ensembl	human	novel	69_37n	missense	237	17.93	52	SNP	0.006	C
CD97	976	genome.wustl.edu	37	19	14508749	14508749	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:14508749T>G	ENST00000242786.5	+	8	899		c.e8+2		CD97_ENST00000357355.3_Splice_Site|CD97_ENST00000358600.3_Splice_Site	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACAGCCAGGTGAGTGGCCCC	0.602																																						dbGAP											0													6.0	8.0	8.0					19																	14508749		2022	4108	6130	-	-	-	SO:0001630	splice_region_variant	0				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.819+2T>G	19.37:g.14508749T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Splice_Site	SNP	-	e8+2	ENST00000242786.5	37	c.819+2	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865634	0.32977	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1723	0.42917	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD97	14369749	1.000000	0.71417	0.998000	0.56505	0.346000	0.29079	3.387000	0.52501	1.983000	0.57843	0.459000	0.35465	.	CD97	-	-	ENSG00000123146		0.602	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	27	0.00	0	T	NM_078481	Intron	14508749	14508749	+1	no_errors	ENST00000242786	ensembl	human	known	69_37n	splice_site	35	26.00	13	SNP	1.000	G
CD99L2	83692	genome.wustl.edu	37	X	149984484	149984484	+	Silent	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:149984484A>G	ENST00000370377.3	-	3	315	c.198T>C	c.(196-198)ccT>ccC	p.P66P	CD99L2_ENST00000437787.2_Silent_p.P66P|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	66					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATTACCTGGAGGTTTTGCCG	0.567																																						dbGAP											0													304.0	229.0	254.0					X																	149984484		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.198T>C	X.37:g.149984484A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	pfam_CD99L2	p.P66	ENST00000370377.3	37	c.198	CCDS35427.1	X																																																																																			CD99L2	-	NULL	ENSG00000102181		0.567	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	143	0.00	0	A	NM_031462		149984484	149984484	-1	no_errors	ENST00000370377	ensembl	human	known	69_37n	silent	166	12.17	23	SNP	0.145	G
CDC14A	8556	genome.wustl.edu	37	1	100964771	100964771	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:100964771A>C	ENST00000336454.3	+	15	2063	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	CDC14A_ENST00000542213.1_Missense_Mutation_p.T512P|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.T570P|CDC14A_ENST00000544534.1_Missense_Mutation_p.T570P	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	570					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ACCCTCCTACACCGGGCTTTC	0.587																																						dbGAP											0													98.0	106.0	103.0					1																	100964771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1708A>C	1.37:g.100964771A>C	ENSP00000336739:p.Thr570Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.T570P	ENST00000336454.3	37	c.1708	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256771	0.22965	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.11385	2.78;2.86;3.08;2.88	5.66	-7.08	0.01558	.	0.790881	0.11942	N	0.514638	T	0.01156	0.0038	N	0.17082	0.46	0.20307	N	0.999911	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.46062	-0.9218	10	0.21014	T	0.42	-0.4806	3.7338	0.08503	0.3065:0.423:0.1757:0.0948	.	512;570;570;570	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	P	512;570;570;570	ENSP00000442640:T512P;ENSP00000354916:T570P;ENSP00000336739:T570P;ENSP00000442543:T570P	ENSP00000336739:T570P	T	+	1	0	CDC14A	100737359	0.866000	0.29940	0.457000	0.27056	0.350000	0.29205	0.393000	0.20817	-1.057000	0.03201	-0.250000	0.11733	ACC	CDC14A	-	NULL	ENSG00000079335		0.587	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	315	0.00	0	A	NM_033312		100964771	100964771	+1	no_errors	ENST00000361544	ensembl	human	known	69_37n	missense	184	10.53	22	SNP	0.351	C
CDC42EP3	10602	genome.wustl.edu	37	2	37873463	37873463	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:37873463T>G	ENST00000295324.3	-	2	1268	c.268A>C	c.(268-270)Acc>Ccc	p.T90P	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	90					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GAGTCCGAGGTGCTGTTGGCC	0.532																																						dbGAP											0													103.0	106.0	105.0					2																	37873463		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.268A>C	2.37:g.37873463T>G	ENSP00000295324:p.Thr90Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.T90P	ENST00000295324.3	37	c.268	CCDS1791.1	2	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209440	0.58343	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T	0.31247	1.5	5.91	5.91	0.95273	.	0.046925	0.85682	D	0.000000	T	0.47192	0.1432	L	0.54323	1.7	0.48185	D	0.999601	D	0.76494	0.999	D	0.66716	0.946	T	0.28522	-1.0041	10	0.19590	T	0.45	.	14.3004	0.66346	0.0:0.0:0.0:1.0	.	90	Q9UKI2	BORG2_HUMAN	P	90	ENSP00000295324:T90P	ENSP00000295324:T90P	T	-	1	0	CDC42EP3	37726967	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.885000	0.69736	2.254000	0.74563	0.533000	0.62120	ACC	CDC42EP3	-	NULL	ENSG00000163171		0.532	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP3	HGNC	protein_coding	OTTHUMT00000218581.3	154	0.00	0	T	NM_006449		37873463	37873463	-1	no_errors	ENST00000295324	ensembl	human	known	69_37n	missense	103	14.88	18	SNP	1.000	G
CDH1	999	genome.wustl.edu	37	16	68849663	68849663	+	Splice_Site	SNP	G	G	A	rs587780113		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:68849663G>A	ENST00000261769.5	+	10	1756		c.e10+1		RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_Splice_Site|CDH1_ENST00000422392.2_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAAAATAACGTAAGTGTGAG	0.388			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)	GRCh37	CS020998	CDH1	S							83.0	78.0	80.0					16																	68849663		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1565+1G>A	16.37:g.68849663G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	-	e10+1	ENST00000261769.5	37	c.1565+1	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892942	0.72524	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4501	0.90700	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH1	67407164	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	9.147000	0.94646	2.706000	0.92434	0.561000	0.74099	.	CDH1	-	-	ENSG00000039068		0.388	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	207	0.00	0	G	NM_004360	Intron	68849663	68849663	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	splice_site	160	33.61	81	SNP	1.000	A
CDH19	28513	genome.wustl.edu	37	18	64172430	64172430	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:64172430A>C	ENST00000262150.2	-	12	2230	c.1938T>G	c.(1936-1938)ggT>ggG	p.G646G	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTTCTTCTCCACCCCCTTCAT	0.413																																						dbGAP											0													173.0	172.0	173.0					18																	64172430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1938T>G	18.37:g.64172430A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G646	ENST00000262150.2	37	c.1938	CCDS11994.1	18																																																																																			CDH19	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000071991		0.413	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	314	0.63	2	A	NM_021153		64172430	64172430	-1	no_errors	ENST00000262150	ensembl	human	known	69_37n	silent	227	13.69	36	SNP	0.053	C
CDHR1	92211	genome.wustl.edu	37	10	85972884	85972884	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:85972884T>G	ENST00000372117.3	+	16	1923	c.1820T>G	c.(1819-1821)gTg>gGg	p.V607G	CDHR1_ENST00000332904.3_Missense_Mutation_p.V607G|CDHR1_ENST00000440770.2_Missense_Mutation_p.V311G	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AACAACCTGGTGGACTATTCC	0.562																																						dbGAP											0													124.0	108.0	113.0					10																	85972884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1820T>G	10.37:g.85972884T>G	ENSP00000361189:p.Val607Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V607G	ENST00000372117.3	37	c.1820	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672337	0.88348	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.56103	0.48;0.48;0.48	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.108399	0.64402	D	0.000006	T	0.77018	0.4069	M	0.90705	3.14	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.73380	0.952;0.938;0.98	T	0.82123	-0.0613	10	0.87932	D	0	-21.1294	14.3318	0.66561	0.0:0.0:0.0:1.0	.	311;607;607	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	G	607;607;311	ENSP00000331063:V607G;ENSP00000361189:V607G;ENSP00000415980:V311G	ENSP00000331063:V607G	V	+	2	0	CDHR1	85962864	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.580000	0.82523	2.271000	0.75665	0.533000	0.62120	GTG	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.562	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	140	0.00	0	T	NM_033100		85972884	85972884	+1	no_errors	ENST00000372117	ensembl	human	known	69_37n	missense	112	16.30	22	SNP	1.000	G
CDK2	1017	genome.wustl.edu	37	12	56361581	56361581	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56361581T>G	ENST00000266970.4	+	2	356				PMEL_ENST00000550464.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548493.1_5'Flank|CDK2_ENST00000553376.1_Intron|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000449260.2_5'Flank|CDK2_ENST00000556656.1_Intron|PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000539511.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000536427.1_5'Flank|CDK2_ENST00000354056.4_Intron|CDK2_ENST00000440311.2_Intron	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	AATGACTAGGTGGGGGGGAAA	0.502																																						dbGAP											0													75.0	69.0	71.0					12																	56361581		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.117-60T>G	12.37:g.56361581T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C6|O75100	RNA	SNP	-	NULL	ENST00000266970.4	37	NULL	CCDS8898.1	12																																																																																			CDK2	-	-	ENSG00000123374		0.502	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	HGNC	protein_coding	OTTHUMT00000409650.1	38	0.00	0	T			56361581	56361581	+1	no_errors	ENST00000556146	ensembl	human	known	69_37n	rna	35	40.32	25	SNP	0.000	G
CDK5RAP1	51654	genome.wustl.edu	37	20	31984825	31984825	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:31984825A>C	ENST00000357886.4	-	2	199	c.46T>G	c.(46-48)Tgg>Ggg	p.W16G	CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.W16G|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.W16G|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.W16G|CDK5RAP1_ENST00000473997.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	16					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AATGGTCCCCACCCCAGAGAC	0.537																																						dbGAP											0													87.0	80.0	83.0					20																	31984825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.46T>G	20.37:g.31984825A>C	ENSP00000350558:p.Trp16Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.W16G	ENST00000357886.4	37	c.46		20	.	.	.	.	.	.	.	.	.	.	A	5.279	0.236800	0.10023	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.05	-4.37	0.03633	.	0.967951	0.08556	N	0.928340	T	0.24774	0.0601	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.20887	0.003;0.016;0.049;0.043;0.018;0.03	B;B;B;B;B;B	0.21917	0.004;0.029;0.016;0.016;0.016;0.037	T	0.23976	-1.0173	9	0.33940	T	0.23	1.4051	4.5317	0.12008	0.2954:0.0:0.4277:0.2769	.	16;16;16;16;16;16	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	G	16	.	ENSP00000341840:W16G	W	-	1	0	CDK5RAP1	31448486	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.640000	0.05440	-0.836000	0.04229	0.402000	0.26972	TGG	CDK5RAP1	-	NULL	ENSG00000101391		0.537	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	110	0.00	0	A	NM_016408		31984825	31984825	-1	no_errors	ENST00000357886	ensembl	human	known	69_37n	missense	175	14.56	30	SNP	0.000	C
CDKAL1	54901	genome.wustl.edu	37	6	21231400	21231400	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:21231400A>C	ENST00000378610.1	+	0	1880				CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000274695.4_3'UTR|CDKAL1_ENST00000378624.4_3'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1						maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTTCTCAGCCACTCTTCTTAA	0.418																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.*130A>C	6.37:g.21231400A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	RNA	SNP	-	NULL	ENST00000378610.1	37	NULL	CCDS4546.1	6																																																																																			CDKAL1	-	-	ENSG00000145996		0.418	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	27	0.00	0	A	NM_017774		21231400	21231400	+1	no_errors	ENST00000476517	ensembl	human	known	69_37n	rna	19	23.08	6	SNP	0.000	C
CDKL1	8814	genome.wustl.edu	37	14	50844974	50844974	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:50844974A>C	ENST00000356146.1	-	0	1274				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					attctaccccacctccttcta	0.502																																						dbGAP											0													66.0	60.0	62.0					14																	50844974		876	1991	2867	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-1708T>G	14.37:g.50844974A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3A4|Q6QUA0|Q8WXQ5	RNA	SNP	-	NULL	ENST00000356146.1	37	NULL		14																																																																																			CDKL1	-	-	ENSG00000100490		0.502	CDKL1-002	KNOWN	basic	processed_transcript	CDKL1	HGNC	protein_coding	OTTHUMT00000276873.2	86	0.00	0	A			50844974	50844974	-1	no_errors	ENST00000356146	ensembl	human	known	69_37n	rna	58	19.44	14	SNP	0.002	C
CDKL5	6792	genome.wustl.edu	37	X	18622626	18622626	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:18622626A>C	ENST00000379989.3	+	13	1867	c.1582A>C	c.(1582-1584)Acc>Ccc	p.T528P	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.T528P	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	528					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATTCTCCCACCAGCCCAAC	0.532																																						dbGAP											0													169.0	151.0	157.0					X																	18622626		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1582A>C	X.37:g.18622626A>C	ENSP00000369325:p.Thr528Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	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,pfscan_Prot_kinase_cat_dom	p.T528P	ENST00000379989.3	37	c.1582	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652612	0.47362	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.72505	-0.66;-0.66	5.85	5.85	0.93711	.	0.130388	0.64402	D	0.000001	T	0.73877	0.3643	L	0.27053	0.805	0.31779	N	0.631163	D	0.76494	0.999	D	0.63488	0.915	T	0.77427	-0.2592	10	0.42905	T	0.14	-20.1298	15.1941	0.73071	1.0:0.0:0.0:0.0	.	528	O76039	CDKL5_HUMAN	P	528	ENSP00000369332:T528P;ENSP00000369325:T528P	ENSP00000369325:T528P	T	+	1	0	CDKL5	18532547	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.396000	0.52565	1.971000	0.57363	0.486000	0.48141	ACC	CDKL5	-	NULL	ENSG00000008086		0.532	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	423	0.70	3	A	NM_003159		18622626	18622626	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	382	18.86	89	SNP	0.997	C
CDON	50937	genome.wustl.edu	37	11	125851170	125851170	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:125851170A>C	ENST00000392693.3	-	17	3177	c.3050T>G	c.(3049-3051)gTg>gGg	p.V1017G	CDON_ENST00000263577.7_Missense_Mutation_p.V1017G|CDON_ENST00000531738.1_Missense_Mutation_p.V394G	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1017					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGTGTAGTCCACCATCTGCCC	0.478																																						dbGAP											0													126.0	116.0	120.0					11																	125851170		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3050T>G	11.37:g.125851170A>C	ENSP00000376458:p.Val1017Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1017G	ENST00000392693.3	37	c.3050	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888876	0.52014	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.71698	-0.59;0.11;-0.59	5.53	4.4	0.53042	.	0.146656	0.30252	N	0.010047	T	0.67552	0.2905	L	0.44542	1.39	0.53688	D	0.999973	P;D;B	0.55605	0.952;0.972;0.303	B;P;B	0.48400	0.372;0.576;0.322	T	0.65602	-0.6128	10	0.40728	T	0.16	-4.4629	11.493	0.50391	0.9291:0.0:0.0709:0.0	.	1017;1017;394	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	G	1017;394;1017	ENSP00000376458:V1017G;ENSP00000432901:V394G;ENSP00000263577:V1017G	ENSP00000263577:V1017G	V	-	2	0	CDON	125356380	1.000000	0.71417	0.997000	0.53966	0.628000	0.37860	6.515000	0.73751	0.910000	0.36722	0.450000	0.29827	GTG	CDON	-	NULL	ENSG00000064309		0.478	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	140	0.00	0	A	NM_016952		125851170	125851170	-1	no_errors	ENST00000392693	ensembl	human	known	69_37n	missense	113	13.74	18	SNP	1.000	C
CDON	50937	genome.wustl.edu	37	11	125867161	125867161	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:125867161A>C	ENST00000392693.3	-	12	2430	c.2303T>G	c.(2302-2304)gTg>gGg	p.V768G	CDON_ENST00000263577.7_Missense_Mutation_p.V768G|CDON_ENST00000531738.1_Missense_Mutation_p.V145G	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	768	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCAGCTGCCACCAGCCAATT	0.453																																						dbGAP											0													103.0	88.0	93.0					11																	125867161		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2303T>G	11.37:g.125867161A>C	ENSP00000376458:p.Val768Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V768G	ENST00000392693.3	37	c.2303	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242227	0.79912	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.56776	0.44;0.44;0.44	5.47	5.47	0.80525	Fibronectin, type III (4);	0.000000	0.46758	D	0.000275	T	0.62950	0.2470	L	0.58354	1.805	0.58432	D	0.999999	D;D;P	0.63880	0.993;0.991;0.844	P;P;P	0.61722	0.893;0.828;0.783	T	0.63111	-0.6710	10	0.41790	T	0.15	-18.4629	9.9823	0.41821	0.9244:0.0:0.0756:0.0	.	768;768;145	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	G	768;145;768	ENSP00000376458:V768G;ENSP00000432901:V145G;ENSP00000263577:V768G	ENSP00000263577:V768G	V	-	2	0	CDON	125372371	0.300000	0.24435	1.000000	0.80357	0.976000	0.68499	4.637000	0.61346	2.081000	0.62600	0.460000	0.39030	GTG	CDON	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000064309		0.453	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	165	0.00	0	A	NM_016952		125867161	125867161	-1	no_errors	ENST00000392693	ensembl	human	known	69_37n	missense	110	17.91	24	SNP	0.994	C
CDS2	8760	genome.wustl.edu	37	20	5154191	5154191	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:5154191T>G	ENST00000460006.1	+	2	387	c.80T>G	c.(79-81)gTa>gGa	p.V27G	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	27					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAAGCAAAGGTAGATGGAGAG	0.517																																						dbGAP											0													143.0	144.0	144.0					20																	5154191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.80T>G	20.37:g.5154191T>G	ENSP00000419879:p.Val27Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.V27G	ENST00000460006.1	37	c.80	CCDS13088.1	20	.	.	.	.	.	.	.	.	.	.	T	8.537	0.872445	0.17322	.	.	ENSG00000101290	ENST00000460006	T	0.43294	0.95	5.14	-1.06	0.10002	.	1.427940	0.04031	N	0.301451	T	0.35770	0.0943	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26677	-1.0096	10	0.21540	T	0.41	.	10.9107	0.47108	0.0:0.4935:0.0:0.5065	.	27	O95674	CDS2_HUMAN	G	27	ENSP00000419879:V27G	ENSP00000419879:V27G	V	+	2	0	CDS2	5102191	0.000000	0.05858	0.069000	0.20011	0.982000	0.71751	0.104000	0.15313	-0.140000	0.11394	0.533000	0.62120	GTA	CDS2	-	pirsf_PC_Trfase_euk	ENSG00000101290		0.517	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	226	0.44	1	T			5154191	5154191	+1	no_errors	ENST00000460006	ensembl	human	known	69_37n	missense	158	11.05	20	SNP	0.000	G
CDS2	8760	genome.wustl.edu	37	20	5156090	5156090	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:5156090A>C	ENST00000460006.1	+	3	598				CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CTCAGTAGCCACCTGGAGGGT	0.473																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.291+165A>C	20.37:g.5156090A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	RNA	SNP	-	NULL	ENST00000460006.1	37	NULL	CCDS13088.1	20																																																																																			CDS2	-	-	ENSG00000101290		0.473	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	33	0.00	0	A			5156090	5156090	+1	no_errors	ENST00000486875	ensembl	human	known	69_37n	rna	25	21.88	7	SNP	0.023	C
CDYL	9425	genome.wustl.edu	37	6	4943915	4943915	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:4943915A>C	ENST00000328908.5	+	7	1550	c.1419A>C	c.(1417-1419)acA>acC	p.T473T	CDYL_ENST00000343762.5_Silent_p.T287T|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.T419T|CDYL_ENST00000449732.2_Silent_p.T287T			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	473					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGTTTCAAACACCCTATACCA	0.433																																						dbGAP											0													139.0	137.0	138.0					6																	4943915		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1419A>C	6.37:g.4943915A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.T473	ENST00000328908.5	37	c.1419		6																																																																																			CDYL	-	pfam_Crotonase_core	ENSG00000153046		0.433	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	104	0.95	1	A	NM_004824		4943915	4943915	+1	no_errors	ENST00000328908	ensembl	human	known	69_37n	silent	80	20.00	20	SNP	0.970	C
PSORS1C1	170679	genome.wustl.edu	37	6	31085092	31085092	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31085092A>C	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.G100G|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CTGCAGAACCACCCTGGGCAA	0.582																																						dbGAP											0													17.0	14.0	15.0					6																	31085092		1787	3579	5366	-	-	-	SO:0001627	intron_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2424A>C	6.37:g.31085092A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	NULL	p.G100	ENST00000259881.9	37	c.300	CCDS34390.1	6																																																																																			CDSN	-	NULL	ENSG00000204539		0.582	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	HGNC	protein_coding	OTTHUMT00000076110.3	32	0.00	0	A	NM_014068		31085092	31085092	-1	no_errors	ENST00000376288	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.002	C
CEACAM1	634	genome.wustl.edu	37	19	43026091	43026091	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43026091T>G	ENST00000161559.6	-	3	822	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	CEACAM1_ENST00000352591.5_Missense_Mutation_p.T230P|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.T230P|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Missense_Mutation_p.T230P|CEACAM1_ENST00000358394.3_Missense_Mutation_p.T230P|CEACAM1_ENST00000308072.4_Missense_Mutation_p.T190P|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.T230P|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	230	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACATTCAAGGTGACTGGGTCA	0.552																																						dbGAP											0													181.0	164.0	170.0					19																	43026091		2203	4300	6503	-	-	-	SO:0001583	missense	0			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.688A>C	19.37:g.43026091T>G	ENSP00000161559:p.Thr230Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T230P	ENST00000161559.6	37	c.688	CCDS12609.1	19	.	.	.	.	.	.	.	.	.	.	t	10.27	1.302908	0.23736	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	4.69	-1.57	0.08506	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32436	0.0829	M	0.88512	2.96	0.09310	N	1	D;D;D;D;D;B;D;D;D	0.71674	0.996;0.992;0.988;0.998;0.998;0.443;0.991;0.995;0.991	D;D;D;D;D;B;D;D;D	0.77004	0.957;0.972;0.977;0.989;0.985;0.376;0.966;0.966;0.979	T	0.16748	-1.0392	9	0.38643	T	0.18	.	1.4991	0.02473	0.4389:0.0882:0.1507:0.3222	.	230;230;230;230;230;230;230;230;230	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	P	230;230;257;190;230;230;230;190;230;230;230	ENSP00000161559:T230P;ENSP00000351165:T230P;ENSP00000244291:T230P;ENSP00000384709:T230P;ENSP00000384083:T230P;ENSP00000312184:T190P	ENSP00000161559:T230P	T	-	1	0	CEACAM1	47717931	0.100000	0.21855	0.000000	0.03702	0.006000	0.05464	-0.273000	0.08548	-0.672000	0.05266	0.459000	0.35465	ACC	CEACAM1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000079385		0.552	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	198	0.50	1	T	NM_001712		43026091	43026091	-1	no_errors	ENST00000161559	ensembl	human	known	69_37n	missense	189	14.48	32	SNP	0.001	G
CEACAM1	634	genome.wustl.edu	37	19	43031415	43031415	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43031415A>C	ENST00000161559.6	-	2	336	c.202T>G	c.(202-204)Tac>Gac	p.Y68D	CEACAM1_ENST00000352591.5_Missense_Mutation_p.Y68D|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Y68D|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Y68D|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Y68D|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Y68D|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Y28D|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Y68D|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	68	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TCCCCTTTGTACCAGCTGTAG	0.502																																						dbGAP											0													215.0	175.0	188.0					19																	43031415		2203	4300	6503	-	-	-	SO:0001583	missense	0			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.202T>G	19.37:g.43031415A>C	ENSP00000161559:p.Tyr68Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y68D	ENST00000161559.6	37	c.202	CCDS12609.1	19	.	.	.	.	.	.	.	.	.	.	a	14.30	2.493223	0.44352	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	3.76	0.457	0.16661	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85725	0.5763	H	0.96805	3.885	0.18873	N	0.999988	D;D;P;P;D;P;P;D;D;D	0.76494	0.999;0.987;0.669;0.87;0.993;0.789;0.95;0.974;0.972;0.99	D;D;P;P;D;P;P;D;D;D	0.78314	0.991;0.974;0.744;0.878;0.94;0.876;0.908;0.946;0.963;0.979	T	0.72316	-0.4330	9	0.87932	D	0	.	2.6729	0.05073	0.5885:0.0:0.2185:0.1931	.	68;68;68;68;68;68;68;68;68;68	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	D	68;68;68;95;28;68;68;68;28;68;68;68	ENSP00000161559:Y68D;ENSP00000351165:Y68D;ENSP00000325946:Y68D;ENSP00000244291:Y68D;ENSP00000384709:Y68D;ENSP00000384083:Y68D;ENSP00000312184:Y28D	ENSP00000161559:Y68D	Y	-	1	0	CEACAM1	47723255	0.133000	0.22466	0.515000	0.27774	0.062000	0.15995	0.145000	0.16157	-0.009000	0.14296	-0.372000	0.07161	TAC	CEACAM1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000079385		0.502	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	281	0.35	1	A	NM_001712		43031415	43031415	-1	no_errors	ENST00000161559	ensembl	human	known	69_37n	missense	195	13.27	30	SNP	0.663	C
CEACAM7	1087	genome.wustl.edu	37	19	42187731	42187731	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:42187731T>G	ENST00000006724.3	-	3	892	c.691A>C	c.(691-693)Acc>Ccc	p.T231P	CEACAM7_ENST00000401731.1_Missense_Mutation_p.T231P|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	231	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACATTCAGGGTGACTGGGTCA	0.547																																						dbGAP											0													162.0	158.0	159.0					19																	42187731		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.691A>C	19.37:g.42187731T>G	ENSP00000006724:p.Thr231Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.T231P	ENST00000006724.3	37	c.691	CCDS12583.1	19	.	.	.	.	.	.	.	.	.	.	T	9.821	1.185701	0.21870	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.13657	2.57;2.57	3.02	1.95	0.26073	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36744	0.0978	M	0.91561	3.22	0.47183	D	0.99934	P	0.45428	0.858	P	0.61070	0.883	T	0.05241	-1.0897	9	0.72032	D	0.01	.	5.4414	0.16511	0.2497:0.0:0.0:0.7503	.	231	Q14002	CEAM7_HUMAN	P	231;210;231	ENSP00000006724:T231P;ENSP00000385932:T231P	ENSP00000006724:T231P	T	-	1	0	CEACAM7	46879571	0.607000	0.26958	0.315000	0.25238	0.248000	0.25809	0.233000	0.17911	0.179000	0.19938	0.260000	0.18958	ACC	CEACAM7	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000007306		0.547	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM7	HGNC	protein_coding	OTTHUMT00000321145.1	287	0.35	1	T	NM_006890		42187731	42187731	-1	no_errors	ENST00000006724	ensembl	human	known	69_37n	missense	227	12.02	31	SNP	0.732	G
CEACAM5	1048	genome.wustl.edu	37	19	42222138	42222138	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:42222138A>C	ENST00000221992.6	+	6	1443	c.1329A>C	c.(1327-1329)ccA>ccC	p.P443P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P443P|CEACAM5_ENST00000398599.4_Silent_p.P442P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	443	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCTCTAACCCACCTGCACAGT	0.522																																						dbGAP											0													126.0	104.0	111.0					19																	42222138		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1329A>C	19.37:g.42222138A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	H9KVA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T439P	ENST00000221992.6	37	c.1315	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263567	0.05754	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.39	-4.78	0.03209	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32587	-0.9901	4	.	.	.	.	9.7068	0.40220	0.7798:0.0:0.2202:0.0	.	.	.	.	P	439	.	.	T	+	1	0	CEACAM5	46913978	0.194000	0.23325	0.002000	0.10522	0.054000	0.15201	-0.525000	0.06214	-1.470000	0.01888	-0.474000	0.04947	ACC	CEACAM5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000105388		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	131	0.00	0	A	NM_004363		42222138	42222138	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000398599	ensembl	human	novel	69_37n	missense	101	12.93	15	SNP	0.002	C
CEACAM8	1088	genome.wustl.edu	37	19	43093816	43093816	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43093816T>G	ENST00000244336.5	-	3	597	c.496A>C	c.(496-498)Acc>Ccc	p.T166P	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	166	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GGTTCACAGGTGAAGGCCACA	0.562																																						dbGAP											0													200.0	178.0	185.0					19																	43093816		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.496A>C	19.37:g.43093816T>G	ENSP00000244336:p.Thr166Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T166P	ENST00000244336.5	37	c.496	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	t	15.45	2.837714	0.50951	.	.	ENSG00000124469	ENST00000244336	T	0.03860	3.78	2.46	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19565	0.0470	M	0.87097	2.86	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07309	-1.0779	9	0.87932	D	0	.	4.1794	0.10367	0.0:0.1801:0.0:0.8199	.	166	P31997	CEAM8_HUMAN	P	166	ENSP00000244336:T166P	ENSP00000244336:T166P	T	-	1	0	CEACAM8	47785656	0.003000	0.15002	0.001000	0.08648	0.588000	0.36517	1.018000	0.30002	0.211000	0.20683	0.260000	0.18958	ACC	CEACAM8	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124469		0.562	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	428	0.46	2	T			43093816	43093816	-1	no_errors	ENST00000244336	ensembl	human	known	69_37n	missense	313	10.80	38	SNP	0.001	G
CEACAM19	56971	genome.wustl.edu	37	19	45179602	45179602	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:45179602A>C	ENST00000403660.3	+	3	694	c.484A>C	c.(484-486)Acc>Ccc	p.T162P	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.T162P|CEACAM19_ENST00000480278.1_3'UTR			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	162						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCTGGCGGCCACCATCATTGG	0.582																																						dbGAP											0													79.0	79.0	79.0					19																	45179602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.484A>C	19.37:g.45179602A>C	ENSP00000384887:p.Thr162Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XJ15|Q7Z693	Missense_Mutation	SNP	pfam_Ig_V-set	p.T162P	ENST00000403660.3	37	c.484	CCDS12641.1	19	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711567	0.48517	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.02421	4.3;4.3	3.32	2.29	0.28610	.	0.224065	0.22183	U	0.063468	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.33073	0.396;0.396	B;B	0.31614	0.133;0.133	T	0.46582	-0.9181	10	0.66056	D	0.02	-11.9649	5.1421	0.14965	0.8597:0.0:0.1403:0.0	.	162;162	Q5XJ15;Q7Z692	.;CEA19_HUMAN	P	162	ENSP00000351627:T162P;ENSP00000384887:T162P	ENSP00000351627:T162P	T	+	1	0	CEACAM19	49871442	0.016000	0.18221	0.145000	0.22337	0.823000	0.46562	0.525000	0.22956	0.482000	0.27582	0.260000	0.18958	ACC	CEACAM19	-	NULL	ENSG00000186567		0.582	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM19	HGNC	protein_coding	OTTHUMT00000323022.1	126	0.78	1	A	NM_020219		45179602	45179602	+1	no_errors	ENST00000403660	ensembl	human	known	69_37n	missense	170	10.94	21	SNP	0.342	C
CECR2	27443	genome.wustl.edu	37	22	18028673	18028673	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:18028673A>C	ENST00000400585.2	+	17	3642	c.3204A>C	c.(3202-3204)ccA>ccC	p.P1068P	CECR2_ENST00000262608.8_Silent_p.P1211P|CECR2_ENST00000400573.5_Silent_p.P1210P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1252					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCCTCCCCCACCAAGGTCCC	0.562																																						dbGAP											0													55.0	59.0	57.0					22																	18028673		1979	4144	6123	-	-	-	SO:0001819	synonymous_variant	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3204A>C	22.37:g.18028673A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P1210	ENST00000400585.2	37	c.3630		22																																																																																			CECR2	-	NULL	ENSG00000099954		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	67	0.00	0	A	NM_031413		18028673	18028673	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	silent	70	16.47	14	SNP	0.002	C
CELSR3	1951	genome.wustl.edu	37	3	48696841	48696841	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:48696841A>C	ENST00000164024.4	-	1	3507	c.3227T>G	c.(3226-3228)gTg>gGg	p.V1076G	CELSR3_ENST00000544264.1_Missense_Mutation_p.V1076G	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1076	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATTCTCTTTCACCCGCACCTC	0.567																																						dbGAP											0													112.0	109.0	110.0					3																	48696841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3227T>G	3.37:g.48696841A>C	ENSP00000164024:p.Val1076Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V1076G	ENST00000164024.4	37	c.3227	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523431	0.64747	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.58940	0.3;0.3	5.78	5.78	0.91487	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.83308	0.5226	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88464	0.3057	9	0.87932	D	0	.	16.0993	0.81158	1.0:0.0:0.0:0.0	.	1076;1146	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	G	1076	ENSP00000164024:V1076G;ENSP00000445694:V1076G	ENSP00000164024:V1076G	V	-	2	0	CELSR3	48671845	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.339000	0.96797	2.207000	0.71202	0.459000	0.35465	GTG	CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000008300		0.567	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	157	0.63	1	A	NM_001407		48696841	48696841	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	C
CENPJ	55835	genome.wustl.edu	37	13	25480610	25480610	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:25480610A>C	ENST00000381884.4	-	7	1751	c.1566T>G	c.(1564-1566)ggT>ggG	p.G522G	CENPJ_ENST00000545981.1_Silent_p.G522G	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	522					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCTGTCTTTACCTTGTGTCT	0.443																																						dbGAP											0													72.0	77.0	75.0					13																	25480610		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1566T>G	13.37:g.25480610A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	pfam_Tcp10/CenJ_C	p.G522	ENST00000381884.4	37	c.1566	CCDS9310.1	13																																																																																			CENPJ	-	NULL	ENSG00000151849		0.443	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	177	0.56	1	A	NM_018451		25480610	25480610	-1	no_errors	ENST00000381884	ensembl	human	known	69_37n	silent	115	16.67	23	SNP	0.000	C
CEP104	9731	genome.wustl.edu	37	1	3739736	3739736	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:3739736A>C	ENST00000378230.3	-	20	2896		c.e20+1			NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa							centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CAGGCCCCTCACCTCTTCTCC	0.557																																						dbGAP											0													234.0	238.0	237.0					1																	3739736		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2571+1T>G	1.37:g.3739736A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Splice_Site	SNP	-	e19+2	ENST00000378230.3	37	c.2571+2	CCDS30571.1	1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179972	0.57800	.	.	ENSG00000116198	ENST00000378230;ENST00000438539	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6795	0.69006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP104	3729596	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	8.516000	0.90552	2.110000	0.64415	0.533000	0.62120	.	CEP104	-	-	ENSG00000116198		0.557	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	230	0.85	2	A	NM_014704	Intron	3739736	3739736	-1	no_errors	ENST00000378230	ensembl	human	known	69_37n	splice_site	223	13.90	36	SNP	1.000	C
CEP128	145508	genome.wustl.edu	37	14	81259283	81259283	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:81259283A>C	ENST00000555265.1	-	14	1756	c.1381T>G	c.(1381-1383)Tac>Gac	p.Y461D	CEP128_ENST00000281129.3_Missense_Mutation_p.Y461D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	461						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCACTGAGGTACCGCTCAGCC	0.537																																						dbGAP											0													161.0	141.0	148.0					14																	81259283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1381T>G	14.37:g.81259283A>C	ENSP00000451162:p.Tyr461Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.Y461D	ENST00000555265.1	37	c.1381	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489185	0.64074	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.35605	1.3;1.3	5.47	5.47	0.80525	.	0.307755	0.28198	N	0.016227	T	0.54498	0.1862	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.50440	-0.8828	10	0.30078	T	0.28	.	15.5402	0.76039	1.0:0.0:0.0:0.0	.	461	Q6ZU80	CE128_HUMAN	D	461	ENSP00000281129:Y461D;ENSP00000451162:Y461D	ENSP00000281129:Y461D	Y	-	1	0	CEP128	80329036	1.000000	0.71417	0.991000	0.47740	0.840000	0.47671	5.478000	0.66806	2.071000	0.62044	0.528000	0.53228	TAC	CEP128	-	NULL	ENSG00000100629		0.537	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	254	0.39	1	A	NM_152446		81259283	81259283	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	missense	188	12.96	28	SNP	1.000	C
CEP152	22995	genome.wustl.edu	37	15	49081140	49081140	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:49081140A>C	ENST00000380950.2	-	9	1218	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G	CEP152_ENST00000325747.5_Missense_Mutation_p.V251G|CEP152_ENST00000399334.3_Missense_Mutation_p.V344G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	344					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATGAAGGTCCACCAGCTGCTG	0.408																																						dbGAP											0													163.0	150.0	154.0					15																	49081140		1941	4140	6081	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1031T>G	15.37:g.49081140A>C	ENSP00000370337:p.Val344Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.V344G	ENST00000380950.2	37	c.1031	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603475	0.66445	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80393	-1.37;-1.37;-1.37	6.03	4.91	0.64330	.	0.464961	0.22386	N	0.060749	T	0.76485	0.3994	L	0.43152	1.355	0.58432	D	0.999991	P;P;P	0.49559	0.493;0.61;0.925	B;B;P	0.44990	0.146;0.215;0.466	T	0.79342	-0.1843	10	0.72032	D	0.01	-1.0775	11.6123	0.51066	0.9314:0.0:0.0686:0.0	.	251;344;344	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	G	344;251;344;344	ENSP00000370337:V344G;ENSP00000321000:V251G;ENSP00000382271:V344G	ENSP00000321000:V251G	V	-	2	0	CEP152	46868432	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	3.766000	0.55280	2.308000	0.77769	0.533000	0.62120	GTG	CEP152	-	NULL	ENSG00000103995		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	278	0.71	2	A	NM_014985		49081140	49081140	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	220	16.60	44	SNP	0.996	C
CEP192	55125	genome.wustl.edu	37	18	13103575	13103575	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:13103575A>C	ENST00000325971.8	+	37	6744	c.5151A>C	c.(5149-5151)ccA>ccC	p.P1717P	CEP192_ENST00000506447.1_Silent_p.P2313P|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.P1838P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1717					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTTAGCGCCACCTTATGTCA	0.393																																						dbGAP											0													172.0	145.0	154.0					18																	13103575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5151A>C	18.37:g.13103575A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.H861P	ENST00000325971.8	37	c.2582		18																																																																																			CEP192	-	NULL	ENSG00000101639		0.393	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		136	0.00	0	A	NM_032142		13103575	13103575	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000589993	ensembl	human	known	69_37n	missense	91	14.95	16	SNP	0.786	C
CEP250	11190	genome.wustl.edu	37	20	34095934	34095934	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:34095934A>C	ENST00000397527.1	+	32	7541	c.6821A>C	c.(6820-6822)cAc>cCc	p.H2274P	CEP250_ENST00000342580.4_Missense_Mutation_p.H2218P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2274					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGCTTGAACACCTGCAGCAA	0.572																																						dbGAP											0													142.0	147.0	145.0					20																	34095934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6821A>C	20.37:g.34095934A>C	ENSP00000380661:p.His2274Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.H2274P	ENST00000397527.1	37	c.6821	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887402	0.33348	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.47528	2.91;2.9;0.84	4.37	3.27	0.37495	.	0.936622	0.08958	N	0.869158	T	0.45716	0.1356	L	0.60455	1.87	0.09310	N	1	P	0.41569	0.755	P	0.44990	0.466	T	0.36601	-0.9741	10	0.35671	T	0.21	.	2.547	0.04739	0.4741:0.0:0.2005:0.3254	.	2274	Q9BV73	CP250_HUMAN	P	2274;2218;762	ENSP00000380661:H2274P;ENSP00000341541:H2218P;ENSP00000395992:H762P	ENSP00000341541:H2218P	H	+	2	0	CEP250	33559348	0.012000	0.17670	0.430000	0.26722	0.924000	0.55760	1.046000	0.30354	0.743000	0.32719	0.374000	0.22700	CAC	CEP250	-	NULL	ENSG00000126001		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	233	0.42	1	A	NM_007186		34095934	34095934	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	missense	153	18.52	35	SNP	0.002	C
CEP290	80184	genome.wustl.edu	37	12	88465679	88465679	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:88465679A>C	ENST00000552810.1	-	42	6077	c.5734T>G	c.(5734-5736)Tgg>Ggg	p.W1912G	CEP290_ENST00000397838.3_Missense_Mutation_p.W972G|CEP290_ENST00000309041.7_Missense_Mutation_p.W1914G|CEP290_ENST00000547691.2_Missense_Mutation_p.W972G	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1912					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCTTCTTCCCACCTAATTAAT	0.303																																						dbGAP											0			GRCh37	CD073592	CEP290	D							92.0	80.0	84.0					12																	88465679		1808	4070	5878	-	-	-	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5734T>G	12.37:g.88465679A>C	ENSP00000448012:p.Trp1912Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.W1914G	ENST00000552810.1	37	c.5740	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018007	0.75275	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;D;D;T	0.89810	-1.38;-2.57;-2.57;-1.38	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.92514	0.6019	10	0.25106	T	0.35	.	15.3103	0.74026	1.0:0.0:0.0:0.0	.	1912	O15078	CE290_HUMAN	G	972;1912;1914;972	ENSP00000446905:W972G;ENSP00000448012:W1912G;ENSP00000308021:W1914G;ENSP00000380938:W972G	ENSP00000308021:W1914G	W	-	1	0	CEP290	86989810	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.413000	0.90235	2.021000	0.59480	0.377000	0.23210	TGG	CEP290	-	NULL	ENSG00000198707		0.303	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	43	0.00	0	A	NM_025114		88465679	88465679	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	C
CEP95	90799	genome.wustl.edu	37	17	62518907	62518907	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:62518907A>C	ENST00000556440.2	+	8	1313	c.803A>C	c.(802-804)cAc>cCc	p.H268P	CEP95_ENST00000553412.1_Missense_Mutation_p.H104P	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	268						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CCACCCTACCACCCTTCAGAG	0.493																																						dbGAP											0													90.0	90.0	90.0					17																	62518907		1905	4105	6010	-	-	-	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.803A>C	17.37:g.62518907A>C	ENSP00000450461:p.His268Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.H268P	ENST00000556440.2	37	c.803	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739999	0.69304	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.34472	1.38;1.36	5.73	5.73	0.89815	.	0.331184	0.33610	N	0.004740	T	0.54029	0.1833	M	0.66939	2.045	0.44728	D	0.997729	D	0.57571	0.98	P	0.58331	0.837	T	0.57335	-0.7829	10	0.66056	D	0.02	-2.6451	14.5846	0.68315	1.0:0.0:0.0:0.0	.	268	Q96GE4	CEP95_HUMAN	P	203;268;104	ENSP00000450461:H268P;ENSP00000450906:H104P	ENSP00000438458:H203P	H	+	2	0	CEP95	59949369	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	4.683000	0.61679	2.191000	0.70037	0.482000	0.46254	CAC	CEP95	-	NULL	ENSG00000258890		0.493	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	79	0.00	0	A	NM_138363		62518907	62518907	+1	no_errors	ENST00000556440	ensembl	human	known	69_37n	missense	50	26.47	18	SNP	0.998	C
CES5A	221223	genome.wustl.edu	37	16	55880467	55880467	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:55880467T>G	ENST00000290567.9	-	13	1745	c.1624A>C	c.(1624-1626)Acc>Ccc	p.T542P	CES5A_ENST00000518005.1_Missense_Mutation_p.T436P|CES5A_ENST00000520435.1_Missense_Mutation_p.T512P|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000521992.1_Missense_Mutation_p.T571P|CES5A_ENST00000319165.9_Missense_Mutation_p.T492P	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	542						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGGGGGATGGTGCTGGTCCAA	0.517																																						dbGAP											0													207.0	203.0	204.0					16																	55880467		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1624A>C	16.37:g.55880467T>G	ENSP00000290567:p.Thr542Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T571P	ENST00000290567.9	37	c.1711	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	.	16.03	3.007539	0.54361	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.61	2.08	0.27032	.	0.711448	0.12259	N	0.484947	T	0.10337	0.0253	N	0.19112	0.55	0.09310	N	1	D;B	0.71674	0.998;0.102	P;B	0.61477	0.889;0.063	T	0.26258	-1.0108	10	0.36615	T	0.2	.	3.507	0.07695	0.1342:0.0744:0.1403:0.651	.	542;492	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	P	571;492;436;542;512;322	ENSP00000428864:T571P;ENSP00000324271:T492P;ENSP00000428571:T436P;ENSP00000290567:T542P;ENSP00000428887:T512P	ENSP00000290567:T542P	T	-	1	0	CES5A	54437968	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.562000	0.23531	0.135000	0.18707	-0.327000	0.08410	ACC	CES5A	-	NULL	ENSG00000159398		0.517	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	679	0.73	5	T	NM_145024		55880467	55880467	-1	no_errors	ENST00000521992	ensembl	human	known	69_37n	missense	596	15.08	106	SNP	0.001	G
CFI	3426	genome.wustl.edu	37	4	110681502	110681502	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:110681502A>C	ENST00000394634.2	-	6	1014	c.807T>G	c.(805-807)ggT>ggG	p.G269G	CFI_ENST00000394635.3_Silent_p.G269G|CFI_ENST00000512148.1_Silent_p.G269G	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	269	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAATGCAAACACCCGATTTGC	0.428																																						dbGAP											0													145.0	131.0	136.0					4																	110681502		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.807T>G	4.37:g.110681502A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60442	Silent	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G269	ENST00000394634.2	37	c.807	CCDS34049.1	4																																																																																			CFI	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000205403		0.428	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		219	0.45	1	A	NM_000204		110681502	110681502	-1	no_errors	ENST00000394634	ensembl	human	known	69_37n	silent	193	12.22	27	SNP	0.990	C
CHAF1B	8208	genome.wustl.edu	37	21	37763873	37763873	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:37763873T>G	ENST00000314103.5	+	4	435	c.284T>G	c.(283-285)gTg>gGg	p.V95G	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	95					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGTGGAAGGTGAATGATAAC	0.458																																						dbGAP											0													93.0	77.0	82.0					21																	37763873		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.284T>G	21.37:g.37763873T>G	ENSP00000315700:p.Val95Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99548	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	p.V95G	ENST00000314103.5	37	c.284	CCDS13644.1	21	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650707	0.67472	.	.	ENSG00000159259	ENST00000314103	T	0.68624	-0.34	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126149	0.53938	D	0.000048	T	0.61937	0.2387	L	0.46741	1.465	0.58432	D	0.999999	B	0.31009	0.303	B	0.34489	0.184	T	0.59836	-0.7379	10	0.30078	T	0.28	-13.6258	14.9904	0.71384	0.0:0.0:0.0:1.0	.	95	Q13112	CAF1B_HUMAN	G	95	ENSP00000315700:V95G	ENSP00000315700:V95G	V	+	2	0	CHAF1B	36685743	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.066000	0.61787	0.533000	0.62120	GTG	CHAF1B	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000159259		0.458	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	HGNC	protein_coding	OTTHUMT00000194616.2	41	0.00	0	T	NM_005441		37763873	37763873	+1	no_errors	ENST00000314103	ensembl	human	known	69_37n	missense	30	41.18	21	SNP	1.000	G
CHD3	1107	genome.wustl.edu	37	17	7809929	7809929	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7809929A>C	ENST00000330494.7	+	29	4567	c.4417A>C	c.(4417-4419)Acc>Ccc	p.T1473P	CHD3_ENST00000380358.4_Missense_Mutation_p.T1532P|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.T1473P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1473					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGCTCTGAAACCTTTGCCGA	0.572																																						dbGAP											0													107.0	105.0	105.0					17																	7809929		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4417A>C	17.37:g.7809929A>C	ENSP00000332628:p.Thr1473Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T1473P	ENST00000330494.7	37	c.4417	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318693	0.60524	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91521	-2.86;-2.8;-2.79	4.85	4.85	0.62838	Domain of unknown function DUF1086 (1);	0.000000	0.46442	D	0.000295	D	0.94742	0.8303	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.999;1.0	D;D;D;D	0.87578	0.992;0.994;0.997;0.998	D	0.95350	0.8446	10	0.87932	D	0	-22.0575	14.6081	0.68495	1.0:0.0:0.0:0.0	.	49;1473;1473;1532	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	P	1532;1473;1473	ENSP00000369716:T1532P;ENSP00000350907:T1473P;ENSP00000332628:T1473P	ENSP00000332628:T1473P	T	+	1	0	CHD3	7750654	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.761000	0.91691	2.035000	0.60131	0.402000	0.26972	ACC	CHD3	-	pfam_DUF1086	ENSG00000170004		0.572	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	301	0.33	1	A	NM_001005273		7809929	7809929	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	missense	166	11.70	22	SNP	1.000	C
CHD4	1108	genome.wustl.edu	37	12	6692026	6692026	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6692026A>C	ENST00000357008.2	-	28	4387	c.4224T>G	c.(4222-4224)ggT>ggG	p.G1408G	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Silent_p.G1401G|CHD4_ENST00000544484.1_Silent_p.G1433G|CHD4_ENST00000309577.6_Silent_p.G1436G|SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1408					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAATATTCCCACCAACACGGG	0.498																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													164.0	168.0	167.0					12																	6692026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4224T>G	12.37:g.6692026A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1436	ENST00000357008.2	37	c.4308	CCDS8552.1	12																																																																																			CHD4	-	pfam_DUF1086	ENSG00000111642		0.498	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		236	0.00	0	A	NM_001273		6692026	6692026	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	silent	231	11.83	31	SNP	0.981	C
CHD4	1108	genome.wustl.edu	37	12	6697021	6697021	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6697021A>C	ENST00000357008.2	-	24	3723	c.3560T>G	c.(3559-3561)gTg>gGg	p.V1187G	CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.V1180G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1184G|CHD4_ENST00000309577.6_Missense_Mutation_p.V1187G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTTCTTTGCCACCTGCGTGAT	0.517																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													98.0	88.0	91.0					12																	6697021		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3560T>G	12.37:g.6697021A>C	ENSP00000349508:p.Val1187Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1187G	ENST00000357008.2	37	c.3560	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524363	0.64747	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	5.91	5.91	0.95273	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.78801	2.425	0.80722	D	1	P;P;D	0.57899	0.785;0.586;0.981	P;B;D	0.72625	0.607;0.429;0.978	D	0.98243	1.0489	10	0.87932	D	0	.	16.3352	0.83056	1.0:0.0:0.0:0.0	.	1187;1187;1180	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	1184;1180;1187;1187;1161	ENSP00000440392:V1184G;ENSP00000440542:V1180G;ENSP00000312419:V1187G;ENSP00000349508:V1187G	ENSP00000312419:V1187G	V	-	2	0	CHD4	6567282	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.530000	0.81962	2.261000	0.74972	0.443000	0.29094	GTG	CHD4	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C	ENSG00000111642		0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		228	0.44	1	A	NM_001273		6697021	6697021	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	missense	177	18.35	40	SNP	1.000	C
CHD4	1108	genome.wustl.edu	37	12	6700887	6700887	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6700887A>C	ENST00000357008.2	-	21	3358	c.3195T>G	c.(3193-3195)ggT>ggG	p.G1065G	CHD4_ENST00000544040.1_Silent_p.G1058G|CHD4_ENST00000544484.1_Silent_p.G1062G|CHD4_ENST00000309577.6_Silent_p.G1065G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1065	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CACGATGCCCACCCTCCTTAA	0.463																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													137.0	131.0	133.0					12																	6700887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3195T>G	12.37:g.6700887A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1065	ENST00000357008.2	37	c.3195	CCDS8552.1	12																																																																																			CHD4	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C	ENSG00000111642		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		297	0.67	2	A	NM_001273		6700887	6700887	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	silent	287	17.00	59	SNP	0.650	C
CHD6	84181	genome.wustl.edu	37	20	40113147	40113147	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:40113147A>C	ENST00000373233.3	-	15	2279	c.2102T>G	c.(2101-2103)gTg>gGg	p.V701G	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	701	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTCAGTTCCACCTCAATGAT	0.458																																						dbGAP											0													271.0	237.0	249.0					20																	40113147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2102T>G	20.37:g.40113147A>C	ENSP00000362330:p.Val701Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V701G	ENST00000373233.3	37	c.2102	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	A	23.6	4.439795	0.83885	.	.	ENSG00000124177	ENST00000373233	D	0.94138	-3.36	5.87	4.78	0.61160	SNF2-related (1);	0.000000	0.56097	D	0.000034	D	0.97492	0.9179	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97782	1.0233	10	0.87932	D	0	-16.604	11.9865	0.53151	0.9327:0.0:0.0673:0.0	.	701	Q8TD26	CHD6_HUMAN	G	701	ENSP00000362330:V701G	ENSP00000362330:V701G	V	-	2	0	CHD6	39546561	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.255000	0.95524	1.166000	0.42689	0.533000	0.62120	GTG	CHD6	-	pfam_SNF2_N	ENSG00000124177		0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	267	0.74	2	A			40113147	40113147	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	184	13.15	28	SNP	1.000	C
CHD7	55636	genome.wustl.edu	37	8	61655094	61655094	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:61655094A>C	ENST00000423902.2	+	2	1582	c.1103A>C	c.(1102-1104)cAc>cCc	p.H368P	CHD7_ENST00000525508.1_Missense_Mutation_p.H368P|CHD7_ENST00000524602.1_Missense_Mutation_p.H368P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	368					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGCCCATCCACCCCAGTGGC	0.478																																						dbGAP											0													81.0	81.0	81.0					8																	61655094		2115	4240	6355	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1103A>C	8.37:g.61655094A>C	ENSP00000392028:p.His368Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H368P	ENST00000423902.2	37	c.1103	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784544	0.31593	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.82167	-1.58;1.89;-1.22	5.67	4.52	0.55395	.	0.000000	0.45606	D	0.000359	T	0.76528	0.4000	L	0.40543	1.245	0.46336	D	0.998999	B	0.22604	0.072	B	0.25291	0.059	T	0.75519	-0.3289	10	0.66056	D	0.02	-16.8194	11.067	0.47980	0.928:0.0:0.072:0.0	.	368	Q9P2D1	CHD7_HUMAN	P	368	ENSP00000392028:H368P;ENSP00000437061:H368P;ENSP00000436027:H368P	ENSP00000307304:H368P	H	+	2	0	CHD7	61817648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.999000	0.63934	2.178000	0.69098	0.533000	0.62120	CAC	CHD7	-	NULL	ENSG00000171316		0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	192	0.52	1	A	XM_098762		61655094	61655094	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	133	16.35	26	SNP	1.000	C
CHD7	55636	genome.wustl.edu	37	8	61769134	61769134	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:61769134T>G	ENST00000423902.2	+	34	7774	c.7295T>G	c.(7294-7296)gTg>gGg	p.V2432G	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2432					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGTCTCAGGTGGTCTCAGAA	0.448																																						dbGAP											0													82.0	81.0	81.0					8																	61769134		1858	4096	5954	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7295T>G	8.37:g.61769134T>G	ENSP00000392028:p.Val2432Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V2432G	ENST00000423902.2	37	c.7295	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863675	0.32884	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.55413	0.52	5.1	5.1	0.69264	.	0.096128	0.43747	D	0.000539	T	0.37183	0.0994	N	0.14661	0.345	0.58432	D	0.999998	B	0.19331	0.035	B	0.19946	0.027	T	0.16041	-1.0416	10	0.33141	T	0.24	-18.9962	15.0385	0.71767	0.0:0.0:0.0:1.0	.	2432	Q9P2D1	CHD7_HUMAN	G	2432	ENSP00000392028:V2432G	ENSP00000307304:V2432G	V	+	2	0	CHD7	61931688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.975000	0.56859	2.141000	0.66446	0.460000	0.39030	GTG	CHD7	-	NULL	ENSG00000171316		0.448	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	118	0.00	0	T	XM_098762		61769134	61769134	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	1.000	G
CHD8	57680	genome.wustl.edu	37	14	21897307	21897307	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:21897307A>C	ENST00000557364.1	-	3	1294	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.V344G|CHD8_ENST00000430710.3_Missense_Mutation_p.V65G|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	344	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGGCTGCTGCACCTGCAGCTG	0.572																																						dbGAP											0													107.0	122.0	117.0					14																	21897307		2099	4243	6342	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1031T>G	14.37:g.21897307A>C	ENSP00000451601:p.Val344Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V344G	ENST00000557364.1	37	c.1031	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	A	13.25	2.179787	0.38511	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553283	D;D;D	0.92048	-2.96;-2.72;-2.72	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.92741	0.6208	10	0.39692	T	0.17	-13.6869	15.8048	0.78491	1.0:0.0:0.0:0.0	.	65	Q9HCK8-2	.	G	65;344;64;344;95	ENSP00000406288:V65G;ENSP00000382863:V344G;ENSP00000451601:V344G	ENSP00000262707:V64G	V	-	2	0	CHD8	20967147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.107000	0.89557	2.371000	0.80710	0.533000	0.62120	GTG	CHD8	-	NULL	ENSG00000100888		0.572	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	91	0.00	0	A	NM_020920		21897307	21897307	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	1.000	C
CHD9	80205	genome.wustl.edu	37	16	53358021	53358021	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:53358021T>G	ENST00000398510.3	+	38	7995	c.7908T>G	c.(7906-7908)agT>agG	p.S2636R	CHD9_ENST00000564845.1_Missense_Mutation_p.S2620R|CHD9_ENST00000447540.1_Missense_Mutation_p.S2621R|CHD9_ENST00000566029.1_Missense_Mutation_p.S2620R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2636					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGCCTAAAAGTGGAATTGCAA	0.502																																						dbGAP											0													98.0	100.0	99.0					16																	53358021		1922	4132	6054	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7908T>G	16.37:g.53358021T>G	ENSP00000381522:p.Ser2636Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S2636R	ENST00000398510.3	37	c.7908		16	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134207	0.37630	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.89343	-2.5	5.23	1.75	0.24633	.	0.000000	0.64402	D	0.000007	D	0.91707	0.7378	M	0.65975	2.015	0.36764	D	0.88345	D;D;D;D	0.76494	0.998;0.982;0.998;0.999	P;P;D;D	0.73380	0.878;0.7;0.955;0.98	D	0.90527	0.4493	10	0.39692	T	0.17	-17.3506	9.3826	0.38322	0.0:0.282:0.0:0.718	.	702;2621;2636;2620	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	2621;2620;702	ENSP00000396345:S2621R	ENSP00000381522:S2620R	S	+	3	2	CHD9	51915522	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	0.439000	0.21575	0.403000	0.25479	0.533000	0.62120	AGT	CHD9	-	NULL	ENSG00000177200		0.502	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	168	0.59	1	T	NM_025134		53358021	53358021	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	0.998	G
CHEK2P2	646096	genome.wustl.edu	37	15	20488818	20488818	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:20488818A>C	ENST00000555186.1	+	0	301					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TGGAACCCCCACCTGCTTGGC	0.428																																						dbGAP											0																																										-	-	-			0					15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20488818A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000555186.1	37	NULL		15																																																																																			CHEK2P2	-	-	ENSG00000259156		0.428	CHEK2P2-002	KNOWN	basic	processed_transcript	CHEK2P2	HGNC	pseudogene	OTTHUMT00000414654.1	312	0.00	0	A	NR_038836		20488818	20488818	+1	no_errors	ENST00000555186	ensembl	human	known	69_37n	rna	384	11.59	51	SNP	0.997	C
C19orf44	84167	genome.wustl.edu	37	19	16631269	16631269	+	3'UTR	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:16631269A>G	ENST00000221671.3	+	0	2535				CHERP_ENST00000198939.6_Missense_Mutation_p.S762P|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.S751P|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTGGAGCGGGAGGAAGAACGC	0.612																																						dbGAP											0													164.0	182.0	176.0					19																	16631269		2099	4208	6307	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*405A>G	19.37:g.16631269A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6Y7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.S751P	ENST00000221671.3	37	c.2251	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259945	0.59321	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.51817	0.69;0.69	4.83	4.83	0.62350	.	.	.	.	.	T	0.38772	0.1053	L	0.40543	1.245	0.50467	D	0.999876	P	0.44090	0.826	B	0.38655	0.278	T	0.27331	-1.0077	9	0.39692	T	0.17	-20.7874	13.5564	0.61761	1.0:0.0:0.0:0.0	.	751	Q8IWX8	CHERP_HUMAN	P	751;762	ENSP00000439856:S751P;ENSP00000198939:S762P	ENSP00000198939:S762P	S	-	1	0	CHERP	16492269	1.000000	0.71417	0.819000	0.32651	0.995000	0.86356	6.783000	0.75078	1.798000	0.52647	0.459000	0.35465	TCC	CHERP	-	NULL	ENSG00000085872		0.612	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1	36	0.00	0	A	NM_032207		16631269	16631269	-1	no_errors	ENST00000546361	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.998	G
CHFR	55743	genome.wustl.edu	37	12	133448755	133448755	+	Intron	SNP	T	T	G	rs544598672	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:133448755T>G	ENST00000432561.2	-	4	417				CHFR_ENST00000266880.7_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000450056.2_Intron|CHFR_ENST00000541837.2_Intron|CHFR_ENST00000315585.7_Intron			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase						mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AGAAATGGGGTGTAGCCAGGA	0.587																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.343+115A>C	12.37:g.133448755T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	RNA	SNP	-	NULL	ENST00000432561.2	37	NULL	CCDS53849.1	12																																																																																			CHFR	-	-	ENSG00000072609		0.587	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	52	0.00	0	T			133448755	133448755	-1	no_errors	ENST00000536196	ensembl	human	known	69_37n	rna	48	25.00	16	SNP	0.001	G
CHGB	1114	genome.wustl.edu	37	20	5897634	5897634	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:5897634A>C	ENST00000378961.4	+	3	394				CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)							extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTCCACATCACCTTCTACTT	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.190+69A>C	20.37:g.5897634A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	RNA	SNP	-	NULL	ENST00000378961.4	37	NULL	CCDS13092.1	20																																																																																			CHGB	-	-	ENSG00000089199		0.498	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	86	0.00	0	A	NM_001819		5897634	5897634	+1	no_errors	ENST00000488832	ensembl	human	known	69_37n	rna	79	24.04	25	SNP	0.002	C
CHN2	1124	genome.wustl.edu	37	7	29519839	29519839	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:29519839T>G	ENST00000222792.6	+	7	1106				CHN2_ENST00000546235.1_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000409041.4_Missense_Mutation_p.V38G|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Missense_Mutation_p.V38G|CHN2_ENST00000439711.2_Missense_Mutation_p.V38G|CHN2_ENST00000424025.2_Splice_Site|CHN2_ENST00000539406.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GGGGTGAAGGTGGGTGTCAAA	0.547																																					Ovarian(1;44 48 13232 18918 31480)	dbGAP											0													140.0	145.0	143.0					7																	29519839		1327	2309	3636	-	-	-	SO:0001627	intron_variant	0			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.577-56T>G	7.37:g.29519839T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Splice_Site	SNP	-	e1+2	ENST00000222792.6	37	c.111+2	CCDS5420.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.778867|3.778867	0.70107|0.70107	.|.	.|.	ENSG00000106069|ENSG00000106069	ENST00000424025|ENST00000409041;ENST00000439711;ENST00000421775	.|T;T;T	.|0.75704	.|-0.46;-0.96;0.18	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76183	.|0.3952	L|L	0.44542|0.44542	1.39|1.39	0.52099|0.52099	D|D	0.999942|0.999942	.|B;P;P;P;P;P	.|0.50156	.|0.149;0.495;0.627;0.932;0.627;0.627	.|B;B;B;P;B;B	.|0.52217	.|0.044;0.065;0.15;0.693;0.071;0.045	.|T	.|0.76591	.|-0.2903	.|9	.|0.44086	.|T	.|0.13	.|.	15.3917|15.3917	0.74751|0.74751	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|38;38;38;38;38;38	.|B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCF6;E9PGE0	.|.;.;.;.;.;.	.|G	-1|38	.|ENSP00000386849:V38G;ENSP00000387425:V38G;ENSP00000394284:V38G	.|ENSP00000386849:V38G	.|V	+|+	.|2	.|0	CHN2|CHN2	29486364|29486364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	5.840000|5.840000	0.69402|0.69402	2.182000|2.182000	0.69389|0.69389	0.455000|0.455000	0.32223|0.32223	.|GTG	CHN2	-	-	ENSG00000106069		0.547	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	146	0.00	0	T	NM_004067		29519839	29519839	+1	no_errors	ENST00000424025	ensembl	human	known	69_37n	splice_site	88	20.72	23	SNP	1.000	G
CHP1	11261	genome.wustl.edu	37	15	41555044	41555044	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:41555044A>C	ENST00000334660.5	+	4	552	c.312A>C	c.(310-312)ggA>ggC	p.G104G	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Silent_p.G104G	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	104					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										ATGTGAATGGACCCGAACCAC	0.418																																						dbGAP											0													116.0	98.0	105.0					15																	41555044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.312A>C	15.37:g.41555044A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H9|Q6FHZ9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.T58P	ENST00000334660.5	37	c.172	CCDS10073.1	15																																																																																			CHP1	-	NULL	ENSG00000187446		0.418	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP1	HGNC	protein_coding	OTTHUMT00000252554.2	137	0.72	1	A	NM_007236		41555044	41555044	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000560965	ensembl	human	putative	69_37n	missense	170	17.39	36	SNP	0.999	C
CHRD	8646	genome.wustl.edu	37	3	184102962	184102962	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:184102962A>C	ENST00000204604.1	+	14	2000	c.1754A>C	c.(1753-1755)cAc>cCc	p.H585P	CHRD_ENST00000450923.1_Missense_Mutation_p.H585P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.H215P|CHRD_ENST00000348986.3_Missense_Mutation_p.H545P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	585	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCACTGCCCACCTCCTTGGG	0.597																																						dbGAP											0													85.0	87.0	86.0					3																	184102962		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1754A>C	3.37:g.184102962A>C	ENSP00000204604:p.His585Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.H585P	ENST00000204604.1	37	c.1754	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040666	0.75732	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.29	5.29	0.74685	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.82056	2.57	0.58432	D	0.999996	D;D;B;D	0.71674	0.998;0.995;0.146;0.998	D;D;B;D	0.70935	0.959;0.939;0.178;0.971	T	0.76881	-0.2795	10	0.87932	D	0	-17.5064	13.4895	0.61386	1.0:0.0:0.0:0.0	.	215;545;585;585	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	P	585;585;545;215;298	ENSP00000204604:H585P;ENSP00000408972:H585P;ENSP00000334036:H545P;ENSP00000442948:H215P	ENSP00000204604:H585P	H	+	2	0	CHRD	185585656	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.294000	0.72738	2.151000	0.67156	0.533000	0.62120	CAC	CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.597	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	64	0.00	0	A	NM_003741		184102962	184102962	+1	no_errors	ENST00000204604	ensembl	human	known	69_37n	missense	39	21.15	11	SNP	1.000	C
CHRM2	1129	genome.wustl.edu	37	7	136699831	136699831	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:136699831T>G	ENST00000445907.2	+	3	747	c.219T>G	c.(217-219)ggT>ggG	p.G73G	hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.G73G|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.G73G|CHRM2_ENST00000397608.3_Silent_p.G73G|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.G73G|CHRM2_ENST00000453373.1_Silent_p.G73G	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	73					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.G73G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTATCATAGGTGTTTTCTCCA	0.473																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											223.0	194.0	204.0					7																	136699831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.219T>G	7.37:g.136699831T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VBK6|Q9P1X9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.G73	ENST00000445907.2	37	c.219	CCDS5843.1	7																																																																																			CHRM2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000181072		0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	240	0.00	0	T			136699831	136699831	+1	no_errors	ENST00000320658	ensembl	human	known	69_37n	silent	149	13.29	23	SNP	0.978	G
CHRM2	1129	genome.wustl.edu	37	7	136700171	136700171	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:136700171A>C	ENST00000445907.2	+	3	1087	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T187P|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T187P|CHRM2_ENST00000397608.3_Missense_Mutation_p.T187P|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T187P|CHRM2_ENST00000453373.1_Missense_Mutation_p.T187P	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	187					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCTGCTGTCACCTTTGGTAC	0.488																																						dbGAP											0													97.0	87.0	91.0					7																	136700171		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.559A>C	7.37:g.136700171A>C	ENSP00000399745:p.Thr187Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.T187P	ENST00000445907.2	37	c.559	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686864	0.68157	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80379	-0.1407	10	0.72032	D	0.01	-7.5805	15.6399	0.76989	1.0:0.0:0.0:0.0	.	187	P08172	ACM2_HUMAN	P	187	ENSP00000399745:T187P;ENSP00000415386:T187P;ENSP00000319984:T187P;ENSP00000380733:T187P;ENSP00000384937:T187P;ENSP00000384401:T187P	ENSP00000319984:T187P	T	+	1	0	CHRM2	136350711	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.281000	0.95811	2.103000	0.63969	0.533000	0.62120	ACC	CHRM2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000181072		0.488	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	180	0.00	0	A			136700171	136700171	+1	no_errors	ENST00000320658	ensembl	human	known	69_37n	missense	139	12.50	20	SNP	1.000	C
CHRM2	1129	genome.wustl.edu	37	7	136700843	136700843	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:136700843A>C	ENST00000445907.2	+	3	1759	c.1231A>C	c.(1231-1233)Acc>Ccc	p.T411P	hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T411P|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T411P|CHRM2_ENST00000397608.3_Missense_Mutation_p.T411P|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T411P|CHRM2_ENST00000453373.1_Missense_Mutation_p.T411P	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	411					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCTCATTAACACCTTTTGTGC	0.468																																						dbGAP											0													257.0	208.0	225.0					7																	136700843		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1231A>C	7.37:g.136700843A>C	ENSP00000399745:p.Thr411Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.T411P	ENST00000445907.2	37	c.1231	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419200	0.62622	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.048755	0.85682	D	0.000000	T	0.35770	0.0943	L	0.35288	1.05	0.80722	D	1	P	0.38370	0.628	P	0.45099	0.469	T	0.06250	-1.0837	10	0.14656	T	0.56	-17.8516	16.3483	0.83171	1.0:0.0:0.0:0.0	.	411	P08172	ACM2_HUMAN	P	411	ENSP00000399745:T411P;ENSP00000415386:T411P;ENSP00000319984:T411P;ENSP00000380733:T411P;ENSP00000384937:T411P;ENSP00000384401:T411P	ENSP00000319984:T411P	T	+	1	0	CHRM2	136351383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.281000	0.95811	2.254000	0.74563	0.533000	0.62120	ACC	CHRM2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181072		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	287	0.34	1	A			136700843	136700843	+1	no_errors	ENST00000320658	ensembl	human	known	69_37n	missense	198	12.66	29	SNP	1.000	C
CHRNB4	1143	genome.wustl.edu	37	15	78921883	78921883	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:78921883T>G	ENST00000261751.3	-	5	875	c.764A>C	c.(763-765)tAc>tCc	p.Y255S	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	255					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGATGGCAGGTAGAAGACGAG	0.552																																						dbGAP											0													286.0	224.0	245.0					15																	78921883		2196	4293	6489	-	-	-	SO:0001583	missense	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.764A>C	15.37:g.78921883T>G	ENSP00000261751:p.Tyr255Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Y255S	ENST00000261751.3	37	c.764	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314088	0.81358	.	.	ENSG00000117971	ENST00000261751	D	0.90197	-2.63	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	H	0.97635	4.045	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98552	1.0637	10	0.87932	D	0	.	15.7134	0.77649	0.0:0.0:0.0:1.0	.	255	P30926	ACHB4_HUMAN	S	255	ENSP00000261751:Y255S	ENSP00000261751:Y255S	Y	-	2	0	CHRNB4	76708938	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.987000	0.88182	2.130000	0.65690	0.533000	0.62120	TAC	CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	153	0.00	0	T			78921883	78921883	-1	no_errors	ENST00000261751	ensembl	human	known	69_37n	missense	190	11.98	26	SNP	1.000	G
CHST15	51363	genome.wustl.edu	37	10	125805522	125805522	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:125805522A>C	ENST00000346248.5	-	2	849	c.207T>G	c.(205-207)ggT>ggG	p.G69G	CHST15_ENST00000435907.1_Silent_p.G69G|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Silent_p.G69G	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	69					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCAAAAACCCACCCCAGTTTT	0.463																																						dbGAP											0													84.0	75.0	78.0					10																	125805522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.207T>G	10.37:g.125805522A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom	p.G69	ENST00000346248.5	37	c.207	CCDS7638.1	10																																																																																			CHST15	-	NULL	ENSG00000182022		0.463	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	138	0.00	0	A	NM_015892		125805522	125805522	-1	no_errors	ENST00000346248	ensembl	human	known	69_37n	silent	159	14.52	27	SNP	0.992	C
CHST9	83539	genome.wustl.edu	37	18	24496533	24496533	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:24496533T>G	ENST00000284224.8	-	6	1299	c.1022A>C	c.(1021-1023)cAc>cCc	p.H341P	AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.H341P|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	341					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TACTGGACGGTGGGAATCCAG	0.398																																						dbGAP											0													130.0	124.0	126.0					18																	24496533		1899	4111	6010	-	-	-	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1022A>C	18.37:g.24496533T>G	ENSP00000284224:p.His341Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.H341P	ENST00000284224.8	37	c.1022	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	T	15.52	2.856961	0.51376	.	.	ENSG00000154080	ENST00000284224	T	0.73575	-0.76	6.17	6.17	0.99709	.	0.146509	0.48767	D	0.000163	D	0.83418	0.5250	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.63703	0.917	D	0.84785	0.0775	10	0.87932	D	0	-13.4594	16.8222	0.85835	0.0:0.0:0.0:1.0	.	341	Q7L1S5	CHST9_HUMAN	P	341	ENSP00000284224:H341P	ENSP00000284224:H341P	H	-	2	0	CHST9	22750531	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	5.984000	0.70548	2.371000	0.80710	0.533000	0.62120	CAC	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	422	0.47	2	T	NM_031422		24496533	24496533	-1	no_errors	ENST00000284224	ensembl	human	known	69_37n	missense	261	12.37	37	SNP	0.997	G
CHUK	1147	genome.wustl.edu	37	10	101953144	101953144	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:101953144A>C	ENST00000370397.7	-	19	2105	c.2019T>G	c.(2017-2019)ggT>ggG	p.G673G	CHUK_ENST00000590930.1_5'UTR|RP11-316M21.7_ENST00000443919.1_RNA	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	673					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GGGTTACTGCACCTTCTAGAC	0.468																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0													112.0	96.0	101.0					10																	101953144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2019T>G	10.37:g.101953144A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	-	NULL	ENST00000370397.7	37	c.NULL	CCDS7488.1	10																																																																																			CHUK	-	-	ENSG00000213341		0.468	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	135	0.00	0	A	NM_001278		101953144	101953144	-1	no_errors	ENST00000588656	ensembl	human	known	69_37n	splice_site	124	16.78	25	SNP	0.649	C
CHUK	1147	genome.wustl.edu	37	10	101953331	101953331	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:101953331A>C	ENST00000370397.7	-	19	2061				CHUK_ENST00000590930.1_5'UTR|RP11-316M21.7_ENST00000443919.1_RNA	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AACTATTCCCACCTTTACACA	0.333																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1975-143T>G	10.37:g.101953331A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	RNA	SNP	-	NULL	ENST00000370397.7	37	NULL	CCDS7488.1	10																																																																																			CHUK	-	-	ENSG00000213341		0.333	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	50	0.00	0	A	NM_001278		101953331	101953331	-1	no_errors	ENST00000590930	ensembl	human	known	69_37n	rna	44	26.67	16	SNP	0.001	C
CIAPIN1	57019	genome.wustl.edu	37	16	57473134	57473134	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:57473134A>C	ENST00000569979.1	-	2	316	c.270T>G	c.(268-270)ggT>ggG	p.G90G	CIAPIN1_ENST00000394391.4_Silent_p.G90G|CIAPIN1_ENST00000567518.1_Silent_p.G77G|CIAPIN1_ENST00000569370.1_Silent_p.G90G|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Silent_p.G90G|CIAPIN1_ENST00000565961.1_Silent_p.G90G					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAAGACATCCACCAGGCCGAA	0.468																																						dbGAP											0													184.0	181.0	182.0					16																	57473134		1889	4119	6008	-	-	-	SO:0001819	synonymous_variant	0			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.270T>G	16.37:g.57473134A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CIAPIN1	p.G90	ENST00000569979.1	37	c.270		16																																																																																			CIAPIN1	-	NULL	ENSG00000005194		0.468	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	304	0.33	1	A	NM_020313		57473134	57473134	-1	no_errors	ENST00000394391	ensembl	human	known	69_37n	silent	261	13.25	40	SNP	0.976	C
CILP	8483	genome.wustl.edu	37	15	65490842	65490842	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:65490842A>C	ENST00000261883.4	-	9	1948	c.1782T>G	c.(1780-1782)ggT>ggG	p.G594G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	594					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						TGGGGTCTTCACCAACCACTT	0.527																																						dbGAP											0													74.0	71.0	72.0					15																	65490842		2202	4299	6501	-	-	-	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.1782T>G	15.37:g.65490842A>C		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.G594	ENST00000261883.4	37	c.1782	CCDS10203.1	15																																																																																			CILP	-	NULL	ENSG00000138615		0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	104	0.00	0	A	NM_003613		65490842	65490842	-1	no_errors	ENST00000261883	ensembl	human	known	69_37n	silent	99	18.85	23	SNP	0.033	C
CIT	11113	genome.wustl.edu	37	12	120151289	120151289	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:120151289A>C	ENST00000261833.7	-	33	4397	c.4345T>G	c.(4345-4347)Tgg>Ggg	p.W1449G	CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA|CIT_ENST00000392521.2_Missense_Mutation_p.W1491G	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1449	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCTTCATCCACCCTTCCAGG	0.562																																						dbGAP											0													55.0	45.0	48.0					12																	120151289		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4345T>G	12.37:g.120151289A>C	ENSP00000261833:p.Trp1449Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.W1449G	ENST00000261833.7	37	c.4345	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884311	0.72410	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.70164	-0.44;-0.46	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.986;0.986;0.999	T	0.83353	-0.0002	10	0.87932	D	0	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	1491;1449;967	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	G	1491;1449	ENSP00000376306:W1491G;ENSP00000261833:W1449G	ENSP00000261833:W1449G	W	-	1	0	CIT	118635672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.038000	0.93771	2.326000	0.78906	0.533000	0.62120	TGG	CIT	-	smart_Pleckstrin_homology,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology	ENSG00000122966		0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	73	0.00	0	A	NM_007174		120151289	120151289	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	78	20.41	20	SNP	1.000	C
CIT	11113	genome.wustl.edu	37	12	120221812	120221812	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:120221812A>C	ENST00000261833.7	-	12	1497	c.1445T>G	c.(1444-1446)gTg>gGg	p.V482G	CIT_ENST00000392521.2_Missense_Mutation_p.V482G|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	482					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CACAGCCTCCACCTCTGACAC	0.512																																						dbGAP											0													219.0	200.0	207.0					12																	120221812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1445T>G	12.37:g.120221812A>C	ENSP00000261833:p.Val482Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.V482G	ENST00000261833.7	37	c.1445	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.21|16.21	3.057846|3.057846	0.55325|0.55325	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.65178|.	-0.14;-0.12|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Pleckstrin homology-type (1);|.	0.075889|.	0.53938|.	D|.	0.000047|.	T|T	0.49457|0.49457	0.1558|0.1558	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;P;D|.	0.54207|.	0.612;0.867;0.965|.	B;B;P|.	0.51229|.	0.119;0.267;0.663|.	T|T	0.47071|0.47071	-0.9145|-0.9145	10|5	0.87932|.	D|.	0|.	.|.	16.2987|16.2987	0.82793|0.82793	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	482;482;15|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	G|G	482|110	ENSP00000376306:V482G;ENSP00000261833:V482G|.	ENSP00000261833:V482G|.	V|W	-|-	2|1	0|0	CIT|CIT	118706195|118706195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.519000|7.519000	0.81809|0.81809	2.257000|2.257000	0.74773|0.74773	0.459000|0.459000	0.35465|0.35465	GTG|TGG	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	359	0.82	3	A	NM_007174		120221812	120221812	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	203	17.41	43	SNP	1.000	C
CIZ1	25792	genome.wustl.edu	37	9	130940956	130940956	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130940956A>C	ENST00000393608.1	-	8	1701				CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Intron|CIZ1_ENST00000538431.1_Intron|CIZ1_ENST00000372938.5_Intron|CIZ1_ENST00000357558.5_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000277465.4_Intron	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1						maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGTCCCATCACCAGACCAGC	0.602																																						dbGAP											0													36.0	34.0	35.0					9																	130940956		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1498+31T>G	9.37:g.130940956A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	RNA	SNP	-	NULL	ENST00000393608.1	37	NULL	CCDS6894.1	9																																																																																			CIZ1	-	-	ENSG00000148337		0.602	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	56	0.00	0	A	NM_012127		130940956	130940956	-1	no_errors	ENST00000475471	ensembl	human	known	69_37n	rna	36	14.29	6	SNP	0.000	C
CKMT2	1160	genome.wustl.edu	37	5	80562047	80562047	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:80562047A>C	ENST00000424301.2	+	11	1468	c.1230A>C	c.(1228-1230)ccA>ccC	p.P410P	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Silent_p.P410P|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P410P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	410					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TTAAGGTGCCACCCCCTCTGC	0.423																																						dbGAP											0													168.0	172.0	171.0					5																	80562047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1230A>C	5.37:g.80562047A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ICS8|Q8N1E1	Silent	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.P410	ENST00000424301.2	37	c.1230	CCDS4053.1	5																																																																																			CKMT2	-	NULL	ENSG00000131730		0.423	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT2	HGNC	protein_coding	OTTHUMT00000369600.1	241	0.41	1	A	NM_001825		80562047	80562047	+1	no_errors	ENST00000254035	ensembl	human	known	69_37n	silent	181	18.02	40	SNP	0.107	C
CLASP1	23332	genome.wustl.edu	37	2	122217669	122217669	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:122217669A>C	ENST00000263710.4	-	12	1454	c.1065T>G	c.(1063-1065)ggT>ggG	p.G355G	CLASP1_ENST00000541859.1_Silent_p.G124G|CLASP1_ENST00000455322.2_Silent_p.G355G|CLASP1_ENST00000541377.1_Silent_p.G355G|CLASP1_ENST00000397587.3_Silent_p.G355G|CLASP1_ENST00000545861.1_Silent_p.G123G|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000409078.3_Silent_p.G355G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	355					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACTCAGCAGCACCAGCCAAAA	0.378																																						dbGAP											0													87.0	86.0	86.0					2																	122217669		1900	4110	6010	-	-	-	SO:0001819	synonymous_variant	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1065T>G	2.37:g.122217669A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.V136G	ENST00000263710.4	37	c.407		2																																																																																			CLASP1	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000074054		0.378	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		164	0.00	0	A	NM_015282		122217669	122217669	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452274	ensembl	human	known	69_37n	missense	141	17.54	30	SNP	0.991	C
CLCA1	1179	genome.wustl.edu	37	1	86952379	86952379	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:86952379A>C	ENST00000234701.3	+	8	1476	c.1125A>C	c.(1123-1125)ttA>ttC	p.L375F	CLCA1_ENST00000394711.1_Missense_Mutation_p.L375F			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	375	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCAAAAGATTACCTGCAGCAG	0.468																																						dbGAP											0													120.0	114.0	116.0					1																	86952379		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1125A>C	1.37:g.86952379A>C	ENSP00000234701:p.Leu375Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.L375F	ENST00000234701.3	37	c.1125	CCDS709.1	1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319945	0.60634	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.21543	2.0;2.0	5.65	0.482	0.16815	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000033	T	0.28632	0.0709	M	0.88031	2.925	0.31771	N	0.632155	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05007	-1.0912	10	0.87932	D	0	-7.8326	1.6763	0.02822	0.3437:0.2265:0.3083:0.1215	.	375;138	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	F	375;375;88	ENSP00000234701:L375F;ENSP00000378200:L375F	ENSP00000234701:L375F	L	+	3	2	CLCA1	86724967	0.998000	0.40836	0.599000	0.28851	0.008000	0.06430	0.695000	0.25527	0.103000	0.17682	-0.256000	0.11100	TTA	CLCA1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	ENSG00000016490		0.468	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	226	0.44	1	A	NM_001285		86952379	86952379	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	missense	163	17.59	35	SNP	0.631	C
CLCA2	9635	genome.wustl.edu	37	1	86921063	86921063	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:86921063A>C	ENST00000370565.4	+	14	2847	c.2685A>C	c.(2683-2685)gtA>gtC	p.V895V		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	895					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTGATCCTGTACCTGCCAGAG	0.393																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													173.0	184.0	180.0					1																	86921063		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2685A>C	1.37:g.86921063A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V895	ENST00000370565.4	37	c.2685	CCDS708.1	1																																																																																			CLCA2	-	NULL	ENSG00000137975		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	289	0.00	0	A	NM_006536		86921063	86921063	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	silent	153	12.07	21	SNP	0.000	C
CLCA1	1179	genome.wustl.edu	37	1	86964397	86964397	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:86964397A>C	ENST00000234701.3	+	14	2607	c.2256A>C	c.(2254-2256)ccA>ccC	p.P752P	CLCA1_ENST00000394711.1_Silent_p.P752P			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	752					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATCTCTTCCCACCTGGCCAAA	0.498																																						dbGAP											0													118.0	106.0	110.0					1																	86964397		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2256A>C	1.37:g.86964397A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.P752	ENST00000234701.3	37	c.2256	CCDS709.1	1																																																																																			CLCA1	-	superfamily_Fibronectin_type3,tigrfam_CaCC_prot	ENSG00000016490		0.498	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	163	0.60	1	A	NM_001285		86964397	86964397	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	silent	108	17.56	23	SNP	0.962	C
CLCA4	22802	genome.wustl.edu	37	1	87025640	87025640	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:87025640A>C	ENST00000370563.3	+	2	227	c.185A>C	c.(184-186)tAc>tCc	p.Y62S	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	62	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GCTTCTACGTACCTGTTTGAA	0.348																																						dbGAP											0													135.0	121.0	126.0					1																	87025640		1816	4083	5899	-	-	-	SO:0001583	missense	0			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.185A>C	1.37:g.87025640A>C	ENSP00000359594:p.Tyr62Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Y62S	ENST00000370563.3	37	c.185	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689669	0.68271	.	.	ENSG00000016602	ENST00000370563	T	0.18960	2.18	5.96	5.96	0.96718	Chloride channel calcium-activated (1);	0.248052	0.34435	N	0.003971	T	0.35248	0.0925	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.30268	-0.9984	10	0.87932	D	0	-9.1891	10.4588	0.44567	0.9273:0.0:0.0727:0.0	.	62	Q14CN2	CLCA4_HUMAN	S	62	ENSP00000359594:Y62S	ENSP00000359594:Y62S	Y	+	2	0	CLCA4	86798228	0.997000	0.39634	0.994000	0.49952	0.798000	0.45092	2.338000	0.43957	2.285000	0.76669	0.533000	0.62120	TAC	CLCA4	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000016602		0.348	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	504	0.00	0	A	NM_012128		87025640	87025640	+1	no_errors	ENST00000370563	ensembl	human	known	69_37n	missense	356	15.00	63	SNP	1.000	C
CLCN6	1185	genome.wustl.edu	37	1	11898817	11898817	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:11898817A>C	ENST00000346436.6	+	22	2581				CLCN6_ENST00000376487.3_Intron|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.T877P|NPPA-AS1_ENST00000446542.1_RNA	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6						cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGCATCCCACCAGGAGGGG	0.637											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2529+100A>C	1.37:g.11898817A>C		Somatic	675	WXS	Illumina GAIIx	Phase_IV	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.T877P	ENST00000346436.6	37	c.2629	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	A	9.940	1.217336	0.22373	.	.	ENSG00000011021	ENST00000376496	D	0.91894	-2.93	2.73	0.388	0.16264	.	7.076990	0.00357	N	0.000028	D	0.86100	0.5852	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.74542	-0.3631	6	.	.	.	.	4.3132	0.10981	0.6699:0.0:0.3301:0.0	.	.	.	.	P	877	ENSP00000365679:T877P	.	T	+	1	0	CLCN6	11821404	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.042000	0.03539	0.297000	0.22615	-0.441000	0.05720	ACC	CLCN6	-	NULL	ENSG00000011021		0.637	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	19	0.00	0	A	NM_001286		11898817	11898817	+1	no_errors	ENST00000376496	ensembl	human	novel	69_37n	missense	15	36.00	9	SNP	0.000	C
CLCA4	22802	genome.wustl.edu	37	1	87025993	87025993	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:87025993A>C	ENST00000370563.3	+	3	442	c.400A>C	c.(400-402)Acc>Ccc	p.T134P	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	134	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CATTCACTTCACCCCTGACCT	0.398																																						dbGAP											0													130.0	112.0	117.0					1																	87025993		1867	4105	5972	-	-	-	SO:0001583	missense	0			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.400A>C	1.37:g.87025993A>C	ENSP00000359594:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.T134P	ENST00000370563.3	37	c.400	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347199	0.82022	.	.	ENSG00000016602	ENST00000370563	T	0.19394	2.15	5.75	5.75	0.90469	Chloride channel calcium-activated (1);	0.056582	0.64402	D	0.000002	T	0.42743	0.1216	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.50056	-0.8872	10	0.87932	D	0	-20.0181	15.7215	0.77713	1.0:0.0:0.0:0.0	.	134	Q14CN2	CLCA4_HUMAN	P	134	ENSP00000359594:T134P	ENSP00000359594:T134P	T	+	1	0	CLCA4	86798581	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	5.197000	0.65141	2.184000	0.69523	0.533000	0.62120	ACC	CLCA4	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000016602		0.398	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	255	0.39	1	A	NM_012128		87025993	87025993	+1	no_errors	ENST00000370563	ensembl	human	known	69_37n	missense	193	11.87	26	SNP	1.000	C
CLDN1	9076	genome.wustl.edu	37	3	190030795	190030795	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:190030795A>C	ENST00000295522.3	-	2	522	c.254T>G	c.(253-255)gTg>gGg	p.V85G		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	85					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GATGCCAACCACCATCAAGGC	0.453																																						dbGAP											0													215.0	202.0	206.0					3																	190030795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.254T>G	3.37:g.190030795A>C	ENSP00000295522:p.Val85Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14	p.V85G	ENST00000295522.3	37	c.254	CCDS3295.1	3	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535294	0.85812	.	.	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.91011	-2.77	5.95	5.95	0.96441	.	0.262703	0.40640	N	0.001058	D	0.96027	0.8706	M	0.90483	3.12	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.96709	0.9524	10	0.87932	D	0	.	15.2477	0.73517	1.0:0.0:0.0:0.0	.	85	O95832	CLD1_HUMAN	G	85;40	ENSP00000295522:V85G	ENSP00000295522:V85G	V	-	2	0	CLDN1	191513489	1.000000	0.71417	0.980000	0.43619	0.827000	0.46813	9.255000	0.95524	2.279000	0.76181	0.533000	0.62120	GTG	CLDN1	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000163347		0.453	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN1	HGNC	protein_coding	OTTHUMT00000343516.2	293	0.34	1	A	NM_021101		190030795	190030795	-1	no_errors	ENST00000295522	ensembl	human	known	69_37n	missense	225	10.00	25	SNP	0.999	C
CLDN17	26285	genome.wustl.edu	37	21	31538402	31538402	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:31538402T>C	ENST00000286808.3	-	1	569	c.534A>G	c.(532-534)ggA>ggG	p.G178G		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	178					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCAGACCCCCTCCAATGAAGA	0.517																																						dbGAP											0													95.0	91.0	92.0					21																	31538402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.534A>G	21.37:g.31538402T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJB5|Q6UY37	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.G178	ENST00000286808.3	37	c.534	CCDS13586.1	21																																																																																			CLDN17	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8	ENSG00000156282		0.517	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	166	0.00	0	T	NM_012131		31538402	31538402	-1	no_errors	ENST00000286808	ensembl	human	known	69_37n	silent	117	11.36	15	SNP	0.939	C
CLDND1	56650	genome.wustl.edu	37	3	98235929	98235929	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:98235929T>G	ENST00000503004.1	-	4	1387	c.508A>C	c.(508-510)Acc>Ccc	p.T170P	CLDND1_ENST00000511081.1_Missense_Mutation_p.T75P|CLDND1_ENST00000513287.1_Missense_Mutation_p.T170P|CLDND1_ENST00000508503.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.T170P|CLDND1_ENST00000507874.1_Missense_Mutation_p.T170P|CLDND1_ENST00000502288.1_Missense_Mutation_p.T75P|CLDND1_ENST00000510545.1_Missense_Mutation_p.T170P|CLDND1_ENST00000437922.1_Missense_Mutation_p.T193P|CLDND1_ENST00000341181.6_Missense_Mutation_p.T170P|CLDND1_ENST00000394185.2_Missense_Mutation_p.T170P|CLDND1_ENST00000394181.2_Missense_Mutation_p.T170P			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	170						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						GTGGCAATGGTGGGATATAAG	0.438																																						dbGAP											0													147.0	141.0	143.0					3																	98235929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.508A>C	3.37:g.98235929T>G	ENSP00000421226:p.Thr170Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.T193P	ENST00000503004.1	37	c.577	CCDS2930.1	3	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151998	0.57151	.	.	ENSG00000080822	ENST00000502288;ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000513873;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.71	3.36	0.38483	.	0.227229	0.48286	D	0.000186	T	0.66287	0.2774	L	0.52573	1.65	0.42395	D	0.99254	P;B;P;D	0.53885	0.834;0.115;0.834;0.963	P;B;P;P	0.52957	0.64;0.319;0.64;0.714	T	0.63839	-0.6546	10	0.49607	T	0.09	-6.6441	6.9392	0.24483	0.0:0.2561:0.0:0.7439	.	170;75;170;170	D6RCR8;F2Z2D9;Q9NY35;Q9NY35-2	.;.;CLDN1_HUMAN;.	P	75;170;170;193;170;123;170;170;170;26;170;75;170;148;170;170;55;170;55;170;170;170;170	ENSP00000422428:T170P;ENSP00000340247:T170P;ENSP00000388457:T193P;ENSP00000377734:T170P;ENSP00000422116:T123P;ENSP00000421226:T170P;ENSP00000377739:T170P;ENSP00000377735:T170P;ENSP00000426164:T26P;ENSP00000423590:T170P;ENSP00000424669:T75P;ENSP00000426869:T170P;ENSP00000423732:T148P;ENSP00000425539:T170P;ENSP00000420913:T170P;ENSP00000427119:T55P;ENSP00000421413:T170P;ENSP00000424484:T55P;ENSP00000423151:T170P;ENSP00000423093:T170P;ENSP00000425204:T170P	ENSP00000340247:T170P	T	-	1	0	CLDND1	99718619	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.735000	0.47377	0.455000	0.26910	0.533000	0.62120	ACC	CLDND1	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000080822		0.438	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND1	HGNC	protein_coding	OTTHUMT00000359071.1	222	0.00	0	T	NM_019895		98235929	98235929	-1	no_errors	ENST00000437922	ensembl	human	known	69_37n	missense	196	11.66	26	SNP	0.996	G
CLEC4F	165530	genome.wustl.edu	37	2	71039687	71039687	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:71039687A>C	ENST00000272367.2	-	5	1507	c.1431T>G	c.(1429-1431)ggT>ggG	p.G477G	CLEC4F_ENST00000426626.1_Silent_p.G477G	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	477	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATAAGCTTCCACCATTGAACT	0.517																																					Colon(107;10 2157 6841 26035)	dbGAP											0													104.0	111.0	109.0					2																	71039687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1431T>G	2.37:g.71039687A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.G477	ENST00000272367.2	37	c.1431	CCDS1910.1	2																																																																																			CLEC4F	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000152672		0.517	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	174	0.57	1	A	NM_173535		71039687	71039687	-1	no_errors	ENST00000272367	ensembl	human	known	69_37n	silent	170	12.37	24	SNP	0.000	C
CLK2	1196	genome.wustl.edu	37	1	155237914	155237914	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155237914A>C	ENST00000368361.4	-	6	873	c.558T>G	c.(556-558)ggT>ggG	p.G186G	CLK2_ENST00000355560.4_Silent_p.G184G|CLK2_ENST00000361168.5_Silent_p.G185G|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.G186G			P49760	CLK2_HUMAN	CDC-like kinase 2	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGAGCCCCACCCCTGTAAG	0.458								Other conserved DNA damage response genes																														dbGAP											0													98.0	96.0	96.0					1																	155237914		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.558T>G	1.37:g.155237914A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	Silent	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,pfscan_Prot_kinase_cat_dom	p.G186	ENST00000368361.4	37	c.558		1																																																																																			CLK2	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000176444		0.458	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	130	0.00	0	A	NM_003993		155237914	155237914	-1	no_errors	ENST00000368361	ensembl	human	known	69_37n	silent	200	11.06	25	SNP	0.849	C
CLU	1191	genome.wustl.edu	37	8	27456103	27456103	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:27456103A>C	ENST00000316403.10	-	8	1619	c.1214T>G	c.(1213-1215)gTg>gGg	p.V405G	CLU_ENST00000560366.1_Missense_Mutation_p.V457G|CLU_ENST00000523500.1_Missense_Mutation_p.V405G|CLU_ENST00000405140.3_Missense_Mutation_p.V405G|CLU_ENST00000546343.1_Missense_Mutation_p.V416G			P10909	CLUS_HUMAN	clusterin	405					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CTTCACGACCACCTCAGTGAC	0.507																																						dbGAP											0													101.0	103.0	102.0					8																	27456103		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.1214T>G	8.37:g.27456103A>C	ENSP00000315130:p.Val405Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.V457G	ENST00000316403.10	37	c.1370	CCDS47832.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375447|3.375447	0.61735|0.61735	.|.	.|.	ENSG00000120885|ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012|ENST00000521770	T;T;T|.	0.37235|.	1.21;1.21;1.21|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Clusterin, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76637|0.76637	0.4015|0.4015	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.78974|0.78974	-0.1992|-0.1992	10|5	0.87932|.	D|.	0|.	-44.864|-44.864	13.3783|13.3783	0.60752|0.60752	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	270;457;416;405|.	E7ETA7;P10909-2;P10909-5;P10909|.	.;.;.;CLUS_HUMAN|.	G|G	457;416;405;405;230;270|96	ENSP00000446413:V416G;ENSP00000385419:V405G;ENSP00000429620:V405G|.	ENSP00000315130:V457G|.	V|W	-|-	2|1	0|0	CLU|CLU	27512020|27512020	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.120000|0.120000	0.20174|0.20174	7.586000|7.586000	0.82596|0.82596	2.053000|2.053000	0.61076|0.61076	0.460000|0.460000	0.39030|0.39030	GTG|TGG	CLU	-	pfam_Clusterin-like,smart_Clusterin_C	ENSG00000120885		0.507	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLU	HGNC	protein_coding	OTTHUMT00000219953.3	104	0.95	1	A	NM_001831		27456103	27456103	-1	no_errors	ENST00000560366	ensembl	human	known	69_37n	missense	106	19.55	26	SNP	1.000	C
CLUL1	27098	genome.wustl.edu	37	18	619225	619225	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:619225T>G	ENST00000400606.2	+	3	264	c.119T>G	c.(118-120)gTg>gGg	p.V40G	CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000581619.1_Missense_Mutation_p.V65G|CLUL1_ENST00000338387.7_Missense_Mutation_p.V40G|CLUL1_ENST00000579494.1_Missense_Mutation_p.V40G|CLUL1_ENST00000540035.1_Missense_Mutation_p.V92G	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	40					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TTTTCTGAGGTGGGGGAGATA	0.383																																						dbGAP											0													114.0	108.0	110.0					18																	619225		1873	4108	5981	-	-	-	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.119T>G	18.37:g.619225T>G	ENSP00000383449:p.Val40Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.V40G	ENST00000400606.2	37	c.119	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	T	0.581	-0.837138	0.02692	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.23348	1.91;1.91;1.91	5.26	1.91	0.25777	Clusterin, N-terminal (1);	0.735755	0.14141	N	0.338738	T	0.18718	0.0449	L	0.43152	1.355	0.09310	N	0.999997	B;B	0.30146	0.228;0.27	B;B	0.31812	0.083;0.136	T	0.25502	-1.0130	10	0.54805	T	0.06	0.1195	2.0751	0.03623	0.2481:0.2971:0.0:0.4549	.	92;40	F5GWQ8;Q15846	.;CLUL1_HUMAN	G	40;92;40	ENSP00000383449:V40G;ENSP00000441726:V92G;ENSP00000341128:V40G	ENSP00000341128:V40G	V	+	2	0	CLUL1	609225	0.851000	0.29673	0.080000	0.20451	0.112000	0.19704	0.739000	0.26173	0.549000	0.28973	-0.248000	0.11899	GTG	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_N	ENSG00000079101		0.383	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	181	0.00	0	T			619225	619225	+1	no_errors	ENST00000338387	ensembl	human	known	69_37n	missense	162	11.35	21	SNP	0.014	G
CMYA5	202333	genome.wustl.edu	37	5	79026763	79026763	+	Silent	SNP	T	T	G	rs199584475	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79026763T>G	ENST00000446378.2	+	2	2206	c.2175T>G	c.(2173-2175)ggT>ggG	p.G725G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	725					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATTGAAAGGTGTTTCTGAGT	0.453																																						dbGAP											0													91.0	87.0	88.0					5																	79026763		1943	4155	6098	-	-	-	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2175T>G	5.37:g.79026763T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.G725	ENST00000446378.2	37	c.2175	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	342	0.29	1	T	NM_153610		79026763	79026763	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	284	10.09	32	SNP	0.011	G
CMYA5	202333	genome.wustl.edu	37	5	79027198	79027198	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79027198A>C	ENST00000446378.2	+	2	2641	c.2610A>C	c.(2608-2610)ccA>ccC	p.P870P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	870					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCAGGCCCCACCACTTTCAG	0.483																																						dbGAP											0													75.0	74.0	74.0					5																	79027198		1975	4155	6130	-	-	-	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2610A>C	5.37:g.79027198A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.P870	ENST00000446378.2	37	c.2610	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	265	0.37	1	A	NM_153610		79027198	79027198	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	199	15.68	37	SNP	0.000	C
CMYA5	202333	genome.wustl.edu	37	5	79027211	79027211	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79027211A>C	ENST00000446378.2	+	2	2654	c.2623A>C	c.(2623-2625)Acc>Ccc	p.T875P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	875					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTTTCAGCCACCCCATCTGA	0.478																																						dbGAP											0													73.0	73.0	73.0					5																	79027211		1982	4152	6134	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2623A>C	5.37:g.79027211A>C	ENSP00000394770:p.Thr875Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.T875P	ENST00000446378.2	37	c.2623	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480491	0.44044	.	.	ENSG00000164309	ENST00000446378	T	0.43688	0.94	5.67	-3.26	0.05064	.	1.260650	0.05485	N	0.555546	T	0.29716	0.0742	L	0.53249	1.67	0.09310	N	1	B	0.30824	0.296	B	0.23419	0.046	T	0.29792	-1.0000	10	0.45353	T	0.12	.	0.7913	0.01058	0.4444:0.1171:0.2111:0.2274	.	875	Q8N3K9	CMYA5_HUMAN	P	875	ENSP00000394770:T875P	ENSP00000394770:T875P	T	+	1	0	CMYA5	79062967	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.074000	0.14662	-0.153000	0.11137	0.533000	0.62120	ACC	CMYA5	-	NULL	ENSG00000164309		0.478	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	252	0.40	1	A	NM_153610		79027211	79027211	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	208	11.86	28	SNP	0.000	C
CMYA5	202333	genome.wustl.edu	37	5	79030767	79030767	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79030767T>G	ENST00000446378.2	+	2	6210	c.6179T>G	c.(6178-6180)gTg>gGg	p.V2060G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2060					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGGAACAGGTGAAGTCAGAA	0.463																																						dbGAP											0													79.0	78.0	78.0					5																	79030767		1859	4105	5964	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6179T>G	5.37:g.79030767T>G	ENSP00000394770:p.Val2060Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V2060G	ENST00000446378.2	37	c.6179	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401338	0.25291	.	.	ENSG00000164309	ENST00000446378	T	0.49139	0.79	5.83	-2.76	0.05896	.	1.335280	0.05534	N	0.564415	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.30822	-0.9965	10	0.72032	D	0.01	.	1.2634	0.02006	0.1304:0.2447:0.3026:0.3224	.	2060	Q8N3K9	CMYA5_HUMAN	G	2060	ENSP00000394770:V2060G	ENSP00000394770:V2060G	V	+	2	0	CMYA5	79066523	0.000000	0.05858	0.000000	0.03702	0.317000	0.28152	-0.454000	0.06770	-0.107000	0.12088	-0.388000	0.06559	GTG	CMYA5	-	NULL	ENSG00000164309		0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	308	0.32	1	T	NM_153610		79030767	79030767	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	186	14.68	32	SNP	0.000	G
CMYA5	202333	genome.wustl.edu	37	5	79031053	79031053	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79031053A>C	ENST00000446378.2	+	2	6496	c.6465A>C	c.(6463-6465)ccA>ccC	p.P2155P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2155					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACAAAATCCACCTACACAAC	0.448																																						dbGAP											0													78.0	76.0	76.0					5																	79031053		1880	4105	5985	-	-	-	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6465A>C	5.37:g.79031053A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.P2155	ENST00000446378.2	37	c.6465	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	391	0.00	0	A	NM_153610		79031053	79031053	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	259	10.07	29	SNP	0.000	C
CNGB1	1258	genome.wustl.edu	37	16	57921861	57921861	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:57921861A>C	ENST00000251102.8	-	32	3420	c.3360T>G	c.(3358-3360)ggT>ggG	p.G1120G	CNGB1_ENST00000564448.1_Silent_p.G1114G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1120					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCCCTTGCCACCCATCTTTC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											0													85.0	91.0	89.0					16																	57921861		1956	4145	6101	-	-	-	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3360T>G	16.37:g.57921861A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.G1120	ENST00000251102.8	37	c.3360	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	80	0.00	0	A	NM_001297		57921861	57921861	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	silent	57	30.12	25	SNP	0.000	C
CNOT1	23019	genome.wustl.edu	37	16	58583780	58583780	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:58583780A>C	ENST00000317147.5	-	25	3697	c.3365T>G	c.(3364-3366)gTg>gGg	p.V1122G	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Missense_Mutation_p.V12G|CNOT1_ENST00000441024.2_Missense_Mutation_p.V1122G|CNOT1_ENST00000569240.1_Missense_Mutation_p.V1117G|CNOT1_ENST00000569732.1_5'Flank	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1122	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCTTCTTTCACCGTTTCCTT	0.388																																						dbGAP											0													135.0	124.0	127.0					16																	58583780		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3365T>G	16.37:g.58583780A>C	ENSP00000320949:p.Val1122Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.V1122G	ENST00000317147.5	37	c.3365	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474081	0.63737	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.16073	2.37;2.37	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.64997	1.995	0.80722	D	1	D;D;P;P	0.59357	0.985;0.981;0.875;0.95	D;D;B;P	0.73708	0.981;0.978;0.307;0.687	T	0.22103	-1.0226	10	0.87932	D	0	.	15.4197	0.75000	1.0:0.0:0.0:0.0	.	12;1122;1122;1117	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	G	1122;551;12;1117;1122	ENSP00000320949:V1122G;ENSP00000413113:V1122G	ENSP00000245138:V12G	V	-	2	0	CNOT1	57141281	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	9.339000	0.96797	2.050000	0.60909	0.402000	0.26972	GTG	CNOT1	-	superfamily_ARM-type_fold	ENSG00000125107		0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	199	1.00	2	A	NM_016284		58583780	58583780	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	134	16.05	26	SNP	1.000	C
CNOT1	23019	genome.wustl.edu	37	16	58583801	58583801	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:58583801A>C	ENST00000317147.5	-	25	3676	c.3344T>G	c.(3343-3345)gTt>gGt	p.V1115G	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Splice_Site_p.V5G|CNOT1_ENST00000441024.2_Splice_Site_p.V1115G|CNOT1_ENST00000569240.1_Splice_Site_p.V1110G|CNOT1_ENST00000569732.1_5'Flank	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1115	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGCTCTTCAACCTAGCCGGT	0.403																																						dbGAP											0													107.0	98.0	101.0					16																	58583801		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3343-1T>G	16.37:g.58583801A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.V1115G	ENST00000317147.5	37	c.3344	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300025	0.40694	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.16743	2.32;2.32	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.50333	1.59	0.80722	D	1	P;P;B;B	0.40731	0.458;0.728;0.294;0.021	B;B;B;B	0.38616	0.093;0.277;0.038;0.029	T	0.03524	-1.1028	10	0.23891	T	0.37	.	15.1739	0.72896	1.0:0.0:0.0:0.0	.	5;1115;1115;1110	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	G	1115;544;5;1110;1115	ENSP00000320949:V1115G;ENSP00000413113:V1115G	ENSP00000245138:V5G	V	-	2	0	CNOT1	57141302	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.277000	0.78572	2.050000	0.60909	0.402000	0.26972	GTT	CNOT1	-	superfamily_ARM-type_fold	ENSG00000125107		0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	185	0.00	0	A	NM_016284	Missense_Mutation	58583801	58583801	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	120	19.46	29	SNP	1.000	C
CNOT6	57472	genome.wustl.edu	37	5	180001097	180001097	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:180001097A>C	ENST00000393356.1	+	14	1995	c.1571A>C	c.(1570-1572)cAc>cCc	p.H524P	CNOT6_ENST00000261951.4_Missense_Mutation_p.H524P			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	524	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GGCTGCCCGCACCCCCTCATC	0.542																																						dbGAP											0													130.0	127.0	128.0					5																	180001097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1571A>C	5.37:g.180001097A>C	ENSP00000377024:p.His524Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.H524P	ENST00000393356.1	37	c.1571	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475042	0.63737	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.79749	-1.3;-1.3	5.72	5.72	0.89469	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.90442	0.7007	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.91356	0.5108	9	.	.	.	-9.5861	16.0151	0.80430	1.0:0.0:0.0:0.0	.	524	Q9ULM6	CNOT6_HUMAN	P	524	ENSP00000261951:H524P;ENSP00000377024:H524P	.	H	+	2	0	CNOT6	179933703	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.183000	0.69458	0.377000	0.23210	CAC	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.542	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	144	0.00	0	A	NM_015455		180001097	180001097	+1	no_errors	ENST00000261951	ensembl	human	known	69_37n	missense	154	14.36	26	SNP	1.000	C
CNPY3	10695	genome.wustl.edu	37	6	42905510	42905510	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:42905510T>G	ENST00000372836.4	+	4	799	c.428T>G	c.(427-429)gTg>gGg	p.V143G	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	143	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GGGGTCAAGGTGGTGATGGAC	0.552																																						dbGAP											0													239.0	208.0	219.0					6																	42905510		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.428T>G	6.37:g.42905510T>G	ENSP00000361926:p.Val143Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	pfam_DUF3456	p.V143G	ENST00000372836.4	37	c.428	CCDS4875.1	6	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298163	0.81025	.	.	ENSG00000137161	ENST00000372836	T	0.40756	1.02	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.85462	2.755	0.80722	D	1	D	0.61080	0.989	P	0.62089	0.898	T	0.65319	-0.6197	10	0.66056	D	0.02	-29.0186	12.8463	0.57831	0.0:0.0:0.0:1.0	.	143	Q9BT09	CNPY3_HUMAN	G	143	ENSP00000361926:V143G	ENSP00000361926:V143G	V	+	2	0	CNPY3	43013488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.301000	0.78850	1.852000	0.53769	0.379000	0.24179	GTG	CNPY3	-	pfam_DUF3456	ENSG00000137161		0.552	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	210	0.00	0	T	NM_006586		42905510	42905510	+1	no_errors	ENST00000372836	ensembl	human	known	69_37n	missense	266	11.88	36	SNP	1.000	G
CNTN3	5067	genome.wustl.edu	37	3	74334641	74334641	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:74334641A>C	ENST00000263665.6	-	19	2546	c.2519T>G	c.(2518-2520)gTg>gGg	p.V840G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	840	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAGTACCGCACCTGGTGGGC	0.463																																						dbGAP											0													124.0	113.0	117.0					3																	74334641		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2518-1T>G	3.37:g.74334641A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V840G	ENST00000263665.6	37	c.2519	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408564	0.83340	.	.	ENSG00000113805	ENST00000263665	T	0.69040	-0.37	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.129929	0.51477	D	0.000089	D	0.86826	0.6026	H	0.96460	3.825	0.80722	D	1	D	0.55605	0.972	D	0.65874	0.939	D	0.91083	0.4901	10	0.87932	D	0	.	15.5011	0.75700	1.0:0.0:0.0:0.0	.	840	Q9P232	CNTN3_HUMAN	G	840	ENSP00000263665:V840G	ENSP00000263665:V840G	V	-	2	0	CNTN3	74417331	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.711000	0.91396	2.106000	0.64143	0.533000	0.62120	GTG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.463	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	316	0.62	2	A	NM_020872	Missense_Mutation	74334641	74334641	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	missense	220	14.89	39	SNP	1.000	C
CNTN3	5067	genome.wustl.edu	37	3	74350638	74350638	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:74350638A>C	ENST00000263665.6	-	15	2033	c.2006T>G	c.(2005-2007)gTg>gGg	p.V669G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	669	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCATATTCCACCCATGGGTT	0.438																																						dbGAP											0													126.0	124.0	124.0					3																	74350638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2006T>G	3.37:g.74350638A>C	ENSP00000263665:p.Val669Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V669G	ENST00000263665.6	37	c.2006	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248399	0.80024	.	.	ENSG00000113805	ENST00000263665	T	0.57752	0.38	6.08	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	M	0.76328	2.33	0.80722	D	1	P	0.51147	0.942	D	0.64410	0.925	T	0.73550	-0.3947	10	0.87932	D	0	.	13.4457	0.61140	0.8692:0.1308:0.0:0.0	.	669	Q9P232	CNTN3_HUMAN	G	669	ENSP00000263665:V669G	ENSP00000263665:V669G	V	-	2	0	CNTN3	74433328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.615000	0.90920	1.078000	0.41014	0.482000	0.46254	GTG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.438	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	172	0.58	1	A	NM_020872		74350638	74350638	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	missense	137	19.30	33	SNP	1.000	C
CNTN3	5067	genome.wustl.edu	37	3	74535764	74535764	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:74535764A>C	ENST00000263665.6	-	3	228	c.201T>G	c.(199-201)agT>agG	p.S67R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	67	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TATCAATATCACTTCCATTCA	0.343																																						dbGAP											0													105.0	102.0	103.0					3																	74535764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.201T>G	3.37:g.74535764A>C	ENSP00000263665:p.Ser67Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S67R	ENST00000263665.6	37	c.201	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451934	0.26074	.	.	ENSG00000113805	ENST00000263665	T	0.69175	-0.38	5.83	-3.5	0.04710	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056745	0.64402	D	0.000001	T	0.42359	0.1199	N	0.17838	0.53	0.20196	N	0.999926	B	0.13145	0.007	B	0.18263	0.021	T	0.15492	-1.0435	10	0.30078	T	0.28	.	7.6081	0.28113	0.4622:0.0:0.4289:0.1089	.	67	Q9P232	CNTN3_HUMAN	R	67	ENSP00000263665:S67R	ENSP00000263665:S67R	S	-	3	2	CNTN3	74618454	0.000000	0.05858	0.034000	0.17996	0.926000	0.56050	-1.095000	0.03356	-0.928000	0.03761	0.477000	0.44152	AGT	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000113805		0.343	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	345	0.00	0	A	NM_020872		74535764	74535764	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	missense	224	10.40	26	SNP	0.007	C
CNTNAP1	8506	genome.wustl.edu	37	17	40838091	40838091	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:40838091A>C	ENST00000264638.4	+	6	1049	c.832A>C	c.(832-834)Acc>Ccc	p.T278P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	278	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGTAAATTTCACCCTGGACGG	0.557																																						dbGAP											0													209.0	198.0	201.0					17																	40838091		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.832A>C	17.37:g.40838091A>C	ENSP00000264638:p.Thr278Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T278P	ENST00000264638.4	37	c.832	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617291	0.87359	.	.	ENSG00000108797	ENST00000264638	T	0.80033	-1.33	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000002	D	0.91280	0.7251	M	0.91510	3.215	0.54753	D	0.999986	D	0.63046	0.992	D	0.69479	0.964	D	0.93068	0.6480	10	0.66056	D	0.02	.	15.3721	0.74573	1.0:0.0:0.0:0.0	.	278	P78357	CNTP1_HUMAN	P	278	ENSP00000264638:T278P	ENSP00000264638:T278P	T	+	1	0	CNTNAP1	38091617	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.270000	0.95690	2.018000	0.59344	0.454000	0.30748	ACC	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.557	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	95	0.00	0	A	NM_003632		40838091	40838091	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	missense	62	24.10	20	SNP	1.000	C
CNTNAP1	8506	genome.wustl.edu	37	17	40840972	40840972	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:40840972T>G	ENST00000264638.4	+	10	1752	c.1535T>G	c.(1534-1536)gTg>gGg	p.V512G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	512	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGCTCAAGGTGGATGGTCAA	0.572																																						dbGAP											0													140.0	126.0	131.0					17																	40840972		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1535T>G	17.37:g.40840972T>G	ENSP00000264638:p.Val512Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V512G	ENST00000264638.4	37	c.1535	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076490	0.76415	.	.	ENSG00000108797	ENST00000264638	T	0.80738	-1.41	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000009	D	0.88001	0.6320	M	0.74467	2.265	0.80722	D	1	D	0.61697	0.99	D	0.63703	0.917	D	0.89679	0.3889	10	0.87932	D	0	.	14.3914	0.66981	0.0:0.0:0.0:1.0	.	512	P78357	CNTP1_HUMAN	G	512	ENSP00000264638:V512G	ENSP00000264638:V512G	V	+	2	0	CNTNAP1	38094498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.315000	0.78998	1.983000	0.57843	0.459000	0.35465	GTG	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.572	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	68	0.00	0	T	NM_003632		40840972	40840972	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	missense	70	13.41	11	SNP	1.000	G
CNTNAP2	26047	genome.wustl.edu	37	7	147926766	147926766	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:147926766T>G	ENST00000361727.3	+	20	3792	c.3276T>G	c.(3274-3276)ggT>ggG	p.G1092G	CNTNAP2_ENST00000538075.1_Silent_p.G151G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1092	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAACCTGGGTGGCACCCGAG	0.443										HNSCC(39;0.1)																												dbGAP											0													103.0	97.0	99.0					7																	147926766		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3276T>G	7.37:g.147926766T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G1092	ENST00000361727.3	37	c.3276	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	243	0.00	0	T			147926766	147926766	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	silent	235	12.55	34	SNP	0.392	G
CNTRL	11064	genome.wustl.edu	37	9	123888037	123888037	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:123888037T>G	ENST00000373855.1	+	14	2108	c.1848T>G	c.(1846-1848)ggT>ggG	p.G616G	CNTRL_ENST00000373850.1_Silent_p.G64G|CNTRL_ENST00000238341.5_Silent_p.G616G|CNTRL_ENST00000373847.1_Silent_p.G64G			Q7Z7A1	CNTRL_HUMAN	centriolin	616					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATTTAGAAGGTGTTATCAGTG	0.443																																						dbGAP											0													123.0	124.0	124.0					9																	123888037		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1848T>G	9.37:g.123888037T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.G616	ENST00000373855.1	37	c.1848	CCDS35118.1	9																																																																																			CNTRL	-	NULL	ENSG00000119397		0.443	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	328	0.00	0	T	NM_007018		123888037	123888037	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	silent	252	15.67	47	SNP	0.983	G
COG8	84342	genome.wustl.edu	37	16	69368585	69368585	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:69368585T>G	ENST00000306875.4	-	3	1366	c.1252A>C	c.(1252-1254)Acc>Ccc	p.T418P	RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.T64P|COG8_ENST00000562081.1_Missense_Mutation_p.T418P	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	418					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CCCGGCTGGGTGGCTGGCACA	0.557																																						dbGAP											0													73.0	71.0	71.0					16																	69368585		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1252A>C	16.37:g.69368585T>G	ENSP00000305459:p.Thr418Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8	p.T418P	ENST00000306875.4	37	c.1252	CCDS10876.1	16	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284130	0.23392	.	.	ENSG00000213380	ENST00000306875	T	0.49139	0.79	5.86	1.08	0.20341	.	0.629472	0.18039	N	0.153697	T	0.41096	0.1144	M	0.70275	2.135	0.25130	N	0.990578	B;B	0.10296	0.003;0.003	B;B	0.11329	0.003;0.006	T	0.31916	-0.9926	10	0.27082	T	0.32	-6.5983	6.2763	0.20983	0.0:0.4523:0.1535:0.3942	.	445;418	B4DYU2;Q96MW5	.;COG8_HUMAN	P	418	ENSP00000305459:T418P	ENSP00000305459:T418P	T	-	1	0	COG8	67926086	0.000000	0.05858	0.951000	0.38953	0.853000	0.48598	-0.302000	0.08221	-0.079000	0.12707	-0.374000	0.07098	ACC	COG8	-	pirsf_COG_su8	ENSG00000213380		0.557	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	HGNC	protein_coding	OTTHUMT00000268948.2	40	0.00	0	T	NM_032382		69368585	69368585	-1	no_errors	ENST00000306875	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.010	G
COL12A1	1303	genome.wustl.edu	37	6	75811748	75811748	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:75811748A>C	ENST00000322507.8	-	57	8745	c.8436T>G	c.(8434-8436)ggT>ggG	p.G2812G	COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Silent_p.G1648G|COL12A1_ENST00000483888.2_Silent_p.G2812G|COL12A1_ENST00000416123.2_Silent_p.G2736G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2812	Collagen-like 2.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCCAGCATCACCTTTCATCC	0.453																																						dbGAP											0													198.0	199.0	199.0					6																	75811748		1954	4139	6093	-	-	-	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8436T>G	6.37:g.75811748A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G2812	ENST00000322507.8	37	c.8436	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Collagen	ENSG00000111799		0.453	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	276	0.36	1	A	NM_004370		75811748	75811748	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	silent	210	13.01	32	SNP	0.294	C
COL12A1	1303	genome.wustl.edu	37	6	75887508	75887508	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:75887508T>G	ENST00000322507.8	-	12	2617	c.2308A>C	c.(2308-2310)Acc>Ccc	p.T770P	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T770P|COL12A1_ENST00000416123.2_Missense_Mutation_p.T770P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	770	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGGGTGGGGTGGTAACTTCT	0.418																																						dbGAP											0													281.0	276.0	277.0					6																	75887508		1879	4109	5988	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2308A>C	6.37:g.75887508T>G	ENSP00000325146:p.Thr770Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T770P	ENST00000322507.8	37	c.2308	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129621	0.37630	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57907	0.37;0.37;0.37	5.87	3.5	0.40072	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.262799	0.32134	N	0.006539	T	0.32704	0.0838	N	0.19112	0.55	0.09310	N	1	D;D	0.57571	0.98;0.98	D;D	0.64410	0.925;0.918	T	0.18398	-1.0338	10	0.72032	D	0.01	.	2.2723	0.04094	0.0:0.248:0.3058:0.4463	.	770;770	D6RGG3;Q99715	.;COCA1_HUMAN	P	770	ENSP00000325146:T770P;ENSP00000412864:T770P;ENSP00000421216:T770P	ENSP00000325146:T770P	T	-	1	0	COL12A1	75944228	0.992000	0.36948	0.007000	0.13788	0.141000	0.21300	3.655000	0.54460	1.028000	0.39785	0.528000	0.53228	ACC	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	513	0.00	0	T	NM_004370		75887508	75887508	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	459	11.52	60	SNP	0.055	G
COL12A1	1303	genome.wustl.edu	37	6	75890804	75890804	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:75890804T>C	ENST00000322507.8	-	11	2324	c.2015A>G	c.(2014-2016)gAt>gGt	p.D672G	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.D672G|COL12A1_ENST00000416123.2_Missense_Mutation_p.D672G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	672	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GACCTCATCATCCCCAGCCGC	0.468																																						dbGAP											0													92.0	94.0	93.0					6																	75890804		1992	4175	6167	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2015A>G	6.37:g.75890804T>C	ENSP00000325146:p.Asp672Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.D672G	ENST00000322507.8	37	c.2015	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.271704	0.01421	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.52983	0.64;0.64;0.64	5.98	3.48	0.39840	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372941	0.25639	N	0.029288	T	0.03827	0.0108	N	0.00926	-1.1	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45011	-0.9290	10	0.02654	T	1	.	4.4057	0.11407	0.0:0.1321:0.208:0.6599	.	672;672	D6RGG3;Q99715	.;COCA1_HUMAN	G	672	ENSP00000325146:D672G;ENSP00000412864:D672G;ENSP00000421216:D672G	ENSP00000325146:D672G	D	-	2	0	COL12A1	75947524	0.999000	0.42202	0.749000	0.31150	0.195000	0.23768	2.920000	0.48844	2.288000	0.76882	0.528000	0.53228	GAT	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	257	0.38	1	T	NM_004370		75890804	75890804	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	167	21.50	46	SNP	0.241	C
COL14A1	7373	genome.wustl.edu	37	8	121237450	121237450	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:121237450A>C	ENST00000297848.3	+	15	2131	c.1861A>C	c.(1861-1863)Acc>Ccc	p.T621P	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T526P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T621P	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGTTTTTACCACCGGTAAGCA	0.403																																						dbGAP											0													59.0	59.0	59.0					8																	121237450		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1861A>C	8.37:g.121237450A>C	ENSP00000297848:p.Thr621Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T621P	ENST00000297848.3	37	c.1861	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991918	0.54041	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.54	5.54	0.83059	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.84036	0.0362	10	0.87932	D	0	.	14.6508	0.68794	1.0:0.0:0.0:0.0	.	621;621	Q05707-2;Q05707	.;COEA1_HUMAN	P	621;621;526;434	ENSP00000311809:T621P;ENSP00000297848:T621P;ENSP00000247781:T526P;ENSP00000409461:T434P	ENSP00000247781:T526P	T	+	1	0	COL14A1	121306631	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	7.448000	0.80631	2.099000	0.63709	0.459000	0.35465	ACC	COL14A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.403	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	134	0.00	0	A	NM_021110		121237450	121237450	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	78	19.59	19	SNP	1.000	C
COL16A1	1307	genome.wustl.edu	37	1	32145098	32145098	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:32145098T>G	ENST00000373672.3	-	42	3289				COL16A1_ENST00000373668.3_Missense_Mutation_p.L953F|COL16A1_ENST00000271069.6_Intron	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGAGGCAGGTAAACAGAGGA	0.597																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2772+134A>C	1.37:g.32145098T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.L953F	ENST00000373672.3	37	c.2859	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	T	9.324	1.058804	0.19987	.	.	ENSG00000084636	ENST00000373668	D	0.90197	-2.63	5.01	-1.31	0.09230	.	.	.	.	.	T	0.74786	0.3762	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60332	-0.7284	8	0.09338	T	0.73	.	3.2845	0.06927	0.4358:0.0:0.2375:0.3268	.	953	A6NCT7	.	F	953	ENSP00000362772:L953F	ENSP00000362772:L953F	L	-	3	2	COL16A1	31917685	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.284000	0.08422	-0.071000	0.12886	0.459000	0.35465	TTA	COL16A1	-	NULL	ENSG00000084636		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	34	0.00	0	T	NM_001856		32145098	32145098	-1	no_errors	ENST00000373668	ensembl	human	putative	69_37n	missense	10	47.37	9	SNP	0.000	G
COL22A1	169044	genome.wustl.edu	37	8	139749809	139749809	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:139749809A>C	ENST00000303045.6	-	23	2543	c.2097T>G	c.(2095-2097)ggT>ggG	p.G699G	COL22A1_ENST00000435777.1_Silent_p.G699G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	699	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCCCATGTCACCTTTCTTCC	0.438										HNSCC(7;0.00092)																												dbGAP											0													92.0	90.0	91.0					8																	139749809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2097T>G	8.37:g.139749809A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G699	ENST00000303045.6	37	c.2097	CCDS6376.1	8																																																																																			COL22A1	-	NULL	ENSG00000169436		0.438	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	101	0.00	0	A	XM_291257		139749809	139749809	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	silent	125	17.22	26	SNP	0.833	C
COL22A1	169044	genome.wustl.edu	37	8	139767753	139767753	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:139767753A>C	ENST00000303045.6	-	20	2395	c.1949T>G	c.(1948-1950)gTg>gGg	p.V650G	COL22A1_ENST00000435777.1_Splice_Site_p.V650G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	650	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCTTGCTGCACCTGAGAGAC	0.502										HNSCC(7;0.00092)																												dbGAP											0													288.0	249.0	262.0					8																	139767753		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1948-1T>G	8.37:g.139767753A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.V650G	ENST00000303045.6	37	c.1949	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364461	0.41902	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94537	-2.45;-3.45	5.3	5.3	0.74995	.	0.346404	0.20149	U	0.098211	D	0.89406	0.6706	N	0.10916	0.065	0.58432	D	0.999996	P	0.52316	0.952	P	0.49140	0.601	D	0.87251	0.2273	10	0.22109	T	0.4	.	11.5607	0.50774	1.0:0.0:0.0:0.0	.	650	Q8NFW1	COMA1_HUMAN	G	650;650;363	ENSP00000303153:V650G;ENSP00000387655:V650G	ENSP00000303153:V650G	V	-	2	0	COL22A1	139836935	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.999000	0.57031	2.225000	0.72522	0.482000	0.46254	GTG	COL22A1	-	NULL	ENSG00000169436		0.502	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	277	0.00	0	A	XM_291257	Missense_Mutation	139767753	139767753	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	241	10.37	28	SNP	1.000	C
COL23A1	91522	genome.wustl.edu	37	5	177686746	177686746	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:177686746A>C	ENST00000390654.3	-	12	1062	c.705T>G	c.(703-705)ggT>ggG	p.G235G	COL23A1_ENST00000407622.1_Silent_p.G199G	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	235	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTCCAGGCTCACCCTGGGGGA	0.607																																						dbGAP											0													103.0	112.0	109.0					5																	177686746		1939	4139	6078	-	-	-	SO:0001819	synonymous_variant	0			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.705T>G	5.37:g.177686746A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVR4|Q9NT93	Silent	SNP	pfam_Collagen	p.G235	ENST00000390654.3	37	c.705	CCDS4436.1	5																																																																																			COL23A1	-	pfam_Collagen	ENSG00000050767		0.607	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	HGNC	protein_coding	OTTHUMT00000253475.1	57	0.00	0	A	NM_173465		177686746	177686746	-1	no_errors	ENST00000390654	ensembl	human	known	69_37n	silent	65	22.35	19	SNP	1.000	C
COL25A1	84570	genome.wustl.edu	37	4	109784541	109784541	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:109784541A>C	ENST00000399132.1	-	21	1616	c.1086T>G	c.(1084-1086)ggT>ggG	p.G362G	COL25A1_ENST00000399127.1_Silent_p.G358G|COL25A1_ENST00000399126.1_Silent_p.G362G	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCCCCGTTCACCCTGTCACA	0.498																																						dbGAP											0													42.0	43.0	43.0					4																	109784541		1836	4088	5924	-	-	-	SO:0001819	synonymous_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1086T>G	4.37:g.109784541A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Collagen	p.G362	ENST00000399132.1	37	c.1086	CCDS43258.1	4																																																																																			COL25A1	-	pfam_Collagen	ENSG00000188517		0.498	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	63	0.00	0	A	NM_032518		109784541	109784541	-1	no_errors	ENST00000399132	ensembl	human	known	69_37n	silent	74	20.43	19	SNP	1.000	C
COL28A1	340267	genome.wustl.edu	37	7	7472284	7472284	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:7472284A>C	ENST00000399429.3	-	24	2048	c.1908T>G	c.(1906-1908)ggT>ggG	p.G636G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	636					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GATAGCCATCACCTTTGAGTC	0.498																																						dbGAP											0													106.0	110.0	108.0					7																	7472284		2006	4159	6165	-	-	-	SO:0001819	synonymous_variant	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1908T>G	7.37:g.7472284A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.G636	ENST00000399429.3	37	c.1908	CCDS43553.1	7																																																																																			COL28A1	-	NULL	ENSG00000215018		0.498	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	229	0.85	2	A	NM_001037763		7472284	7472284	-1	no_errors	ENST00000399429	ensembl	human	known	69_37n	silent	132	20.24	34	SNP	0.488	C
COL4A4	1286	genome.wustl.edu	37	2	227946856	227946856	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:227946856A>C	ENST00000396625.3	-	23	1878	c.1671T>G	c.(1669-1671)ggT>ggG	p.G557G	COL4A4_ENST00000329662.7_Silent_p.G557G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	557	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAACCATGTCACCCTTCGCCC	0.423																																						dbGAP											0													265.0	250.0	255.0					2																	227946856		1940	4136	6076	-	-	-	SO:0001819	synonymous_variant	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1671T>G	2.37:g.227946856A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G557	ENST00000396625.3	37	c.1671	CCDS42828.1	2																																																																																			COL4A4	-	pfam_Collagen	ENSG00000081052		0.423	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	369	0.54	2	A	NM_000092		227946856	227946856	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	silent	274	14.91	48	SNP	0.688	C
COL4A6	1288	genome.wustl.edu	37	X	107414092	107414092	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107414092A>C	ENST00000372216.4	-	34	3436	c.3336T>G	c.(3334-3336)ggT>ggG	p.G1112G	COL4A6_ENST00000394872.2_Silent_p.G1112G|COL4A6_ENST00000545689.1_Silent_p.G1111G|COL4A6_ENST00000334504.7_Silent_p.G1111G|COL4A6_ENST00000538570.1_Silent_p.G1111G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1112	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCATCTTCACCTTTGTTTC	0.413									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													220.0	171.0	187.0					X																	107414092		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3336T>G	X.37:g.107414092A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1112	ENST00000372216.4	37	c.3336	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.413	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	147	0.68	1	A			107414092	107414092	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	silent	95	22.13	27	SNP	0.000	C
COL4A6	1288	genome.wustl.edu	37	X	107457345	107457345	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107457345T>G	ENST00000372216.4	-	6	541	c.441A>C	c.(439-441)ccA>ccC	p.P147P	COL4A6_ENST00000394872.2_Silent_p.P145P|COL4A6_ENST00000545689.1_Silent_p.P146P|COL4A6_ENST00000334504.7_Silent_p.P146P|COL4A6_ENST00000538570.1_Silent_p.P146P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	147	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCATACGGGTGGTCCGAGAA	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													86.0	77.0	80.0					X																	107457345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.441A>C	X.37:g.107457345T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P147	ENST00000372216.4	37	c.441	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	155	0.00	0	T			107457345	107457345	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	silent	94	16.67	19	SNP	1.000	G
COL4A5	1287	genome.wustl.edu	37	X	107829955	107829955	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107829955A>C	ENST00000361603.2	+	19	1387	c.1143A>C	c.(1141-1143)ccA>ccC	p.P381P	COL4A5_ENST00000328300.6_Silent_p.P381P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	381	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TACAGGGTCCACCTGGCCTTC	0.443									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0													105.0	99.0	101.0					X																	107829955		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1143A>C	X.37:g.107829955A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P381	ENST00000361603.2	37	c.1143	CCDS14543.1	X																																																																																			COL4A5	-	NULL	ENSG00000188153		0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	383	0.00	0	A			107829955	107829955	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	silent	312	14.29	52	SNP	0.999	C
COL5A2	1290	genome.wustl.edu	37	2	189927994	189927994	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:189927994A>C	ENST00000374866.3	-	27	2047	c.1773T>G	c.(1771-1773)ggT>ggG	p.G591G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	591					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCCTGGCGCACCCTATAGAA	0.502																																						dbGAP											0													47.0	53.0	51.0					2																	189927994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1773T>G	2.37:g.189927994A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G591	ENST00000374866.3	37	c.1773	CCDS33350.1	2																																																																																			COL5A2	-	NULL	ENSG00000204262		0.502	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	105	0.00	0	A	NM_000393		189927994	189927994	-1	no_errors	ENST00000374866	ensembl	human	known	69_37n	silent	105	13.01	16	SNP	0.873	C
COL5A3	50509	genome.wustl.edu	37	19	10096558	10096558	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:10096558A>C	ENST00000264828.3	-	31	2451	c.2366T>G	c.(2365-2367)gTg>gGg	p.V789G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	789	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGGCCTGGCACCCCAAGCTT	0.572																																						dbGAP											0													116.0	127.0	123.0					19																	10096558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2366T>G	19.37:g.10096558A>C	ENSP00000264828:p.Val789Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.V789G	ENST00000264828.3	37	c.2366	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	A	11.56	1.676454	0.29783	.	.	ENSG00000080573	ENST00000264828	D	0.94138	-3.36	4.6	4.6	0.57074	.	0.309813	0.24993	U	0.033972	D	0.91061	0.7187	L	0.45698	1.435	0.80722	D	1	P	0.50710	0.938	P	0.46049	0.502	D	0.89549	0.3798	10	0.33141	T	0.24	.	12.2459	0.54571	1.0:0.0:0.0:0.0	.	789	P25940	CO5A3_HUMAN	G	789	ENSP00000264828:V789G	ENSP00000264828:V789G	V	-	2	0	COL5A3	9957558	0.794000	0.28838	0.931000	0.37212	0.022000	0.10575	7.608000	0.82898	1.840000	0.53500	0.379000	0.24179	GTG	COL5A3	-	NULL	ENSG00000080573		0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	142	0.00	0	A	NM_015719		10096558	10096558	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	missense	182	12.50	26	SNP	0.690	C
COL5A3	50509	genome.wustl.edu	37	19	10108823	10108823	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:10108823A>C	ENST00000264828.3	-	9	1198	c.1113T>G	c.(1111-1113)ggT>ggG	p.G371G	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	371	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCAGCACCCTGGGGTG	0.527																																						dbGAP											0													156.0	148.0	151.0					19																	10108823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1113T>G	19.37:g.10108823A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G371	ENST00000264828.3	37	c.1113	CCDS12222.1	19																																																																																			COL5A3	-	NULL	ENSG00000080573		0.527	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	569	0.87	5	A	NM_015719		10108823	10108823	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	silent	829	13.06	126	SNP	0.334	C
COL6A3	1293	genome.wustl.edu	37	2	238268800	238268800	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:238268800A>C	ENST00000295550.4	-	17	6665	c.6213T>G	c.(6211-6213)ggT>ggG	p.G2071G	COL6A3_ENST00000346358.4_Silent_p.G1871G|COL6A3_ENST00000353578.4_Silent_p.G1865G|COL6A3_ENST00000409809.1_Silent_p.G1865G|COL6A3_ENST00000347401.3_Silent_p.G1870G|COL6A3_ENST00000472056.1_Silent_p.G1464G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2071	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACCACGCTCACCCTGTTGTG	0.587																																						dbGAP											0													147.0	114.0	125.0					2																	238268800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6213T>G	2.37:g.238268800A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G2071	ENST00000295550.4	37	c.6213	CCDS33412.1	2																																																																																			COL6A3	-	pfam_Collagen	ENSG00000163359		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	40	0.00	0	A	NM_004369		238268800	238268800	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.911	C
COL6A3	1293	genome.wustl.edu	37	2	238275363	238275363	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:238275363T>G	ENST00000295550.4	-	11	5919	c.5467A>C	c.(5467-5469)Acc>Ccc	p.T1823P	COL6A3_ENST00000346358.4_Missense_Mutation_p.T1623P|COL6A3_ENST00000353578.4_Missense_Mutation_p.T1617P|COL6A3_ENST00000409809.1_Missense_Mutation_p.T1617P|COL6A3_ENST00000347401.3_Missense_Mutation_p.T1622P|COL6A3_ENST00000472056.1_Missense_Mutation_p.T1216P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1823	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGCAAAGGGTTTCATGCATC	0.507																																						dbGAP											0													135.0	123.0	127.0					2																	238275363		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5467A>C	2.37:g.238275363T>G	ENSP00000295550:p.Thr1823Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T1823P	ENST00000295550.4	37	c.5467	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	T	8.572	0.880318	0.17467	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88354	-2.37;-2.36;-2.36;-2.37;-2.36;-2.33	5.19	4.04	0.47022	.	0.350022	0.24307	N	0.039675	D	0.90724	0.7089	L	0.59436	1.845	0.22779	N	0.998747	D;D;P	0.69078	0.997;0.997;0.838	P;D;B	0.67725	0.854;0.953;0.276	T	0.81767	-0.0782	10	0.33940	T	0.23	.	7.1225	0.25453	0.0:0.077:0.1488:0.7743	.	1216;1617;1823	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	P	1823;1622;1617;1216;1617;1623	ENSP00000295550:T1823P;ENSP00000315609:T1622P;ENSP00000315873:T1617P;ENSP00000418285:T1216P;ENSP00000386844:T1617P;ENSP00000295546:T1623P	ENSP00000295550:T1823P	T	-	1	0	COL6A3	237940102	0.403000	0.25319	0.286000	0.24833	0.078000	0.17371	2.868000	0.48436	1.954000	0.56735	0.528000	0.53228	ACC	COL6A3	-	NULL	ENSG00000163359		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	137	0.00	0	T	NM_004369		238275363	238275363	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	158	14.44	27	SNP	0.467	G
COL7A1	1294	genome.wustl.edu	37	3	48631839	48631839	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:48631839A>C	ENST00000328333.8	-	2	335	c.228T>G	c.(226-228)ggT>ggG	p.G76G	COL7A1_ENST00000454817.1_Silent_p.G76G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	76	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAAGCGCACACCCTGTGCAC	0.622																																						dbGAP											0													68.0	67.0	67.0					3																	48631839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.228T>G	3.37:g.48631839A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G76	ENST00000328333.8	37	c.228	CCDS2773.1	3																																																																																			COL7A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000114270		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	50	0.00	0	A	NM_000094		48631839	48631839	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	silent	30	25.00	10	SNP	0.294	C
COL6A6	131873	genome.wustl.edu	37	3	130287142	130287142	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:130287142A>C	ENST00000358511.6	+	5	2126	c.2095A>C	c.(2095-2097)Acc>Ccc	p.T699P	COL6A6_ENST00000453409.2_Missense_Mutation_p.T699P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	699	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGACAAACCACCCTGACTGG	0.493																																						dbGAP											0													114.0	116.0	116.0					3																	130287142		1966	4130	6096	-	-	-	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2095A>C	3.37:g.130287142A>C	ENSP00000351310:p.Thr699Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.T699P	ENST00000358511.6	37	c.2095	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387570	0.42308	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85702	-2.02;-2.02	5.51	5.51	0.81932	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.92655	0.7666	M	0.91196	3.185	0.49687	D	0.999818	D	0.89917	1.0	D	0.83275	0.996	D	0.92712	0.6184	10	0.49607	T	0.09	.	8.1506	0.31139	0.8484:0.0:0.1515:0.0	.	699	A6NMZ7	CO6A6_HUMAN	P	699	ENSP00000351310:T699P;ENSP00000399236:T699P	ENSP00000351310:T699P	T	+	1	0	COL6A6	131769832	0.999000	0.42202	0.932000	0.37286	0.114000	0.19823	5.136000	0.64783	2.088000	0.63022	0.533000	0.62120	ACC	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	229	0.87	2	A	NM_001102608		130287142	130287142	+1	no_errors	ENST00000358511	ensembl	human	known	69_37n	missense	143	20.00	36	SNP	0.955	C
COLEC12	81035	genome.wustl.edu	37	18	335127	335127	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:335127T>G	ENST00000400256.3	-	6	1638	c.1431A>C	c.(1429-1431)ccA>ccC	p.P477P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	477	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CAGGGCCAGGTGGTCCAGGCT	0.667																																						dbGAP											0													32.0	34.0	33.0					18																	335127		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1431A>C	18.37:g.335127T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P477	ENST00000400256.3	37	c.1431	CCDS32782.1	18																																																																																			COLEC12	-	pfam_Collagen	ENSG00000158270		0.667	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	41	0.00	0	T			335127	335127	-1	no_errors	ENST00000400256	ensembl	human	known	69_37n	silent	42	29.03	18	SNP	0.000	G
CORO1C	23603	genome.wustl.edu	37	12	109048134	109048134	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:109048134A>C	ENST00000261401.3	-	7	975	c.803T>G	c.(802-804)gTg>gGg	p.V268G	CORO1C_ENST00000541050.1_Missense_Mutation_p.V268G|CORO1C_ENST00000549772.1_Missense_Mutation_p.V274G|CORO1C_ENST00000421578.2_Missense_Mutation_p.V163G|CORO1C_ENST00000420959.2_Missense_Mutation_p.V321G|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	268					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGGCAGCAACACCCCATTGCT	0.363																																						dbGAP											0													190.0	185.0	187.0					12																	109048134		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.803T>G	12.37:g.109048134A>C	ENSP00000261401:p.Val268Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V321G	ENST00000261401.3	37	c.962	CCDS9120.1	12	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503432	0.85176	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959	T;T;T;T;T	0.01787	4.64;4.64;4.64;4.64;4.64	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.058084	0.64402	D	0.000002	T	0.12944	0.0314	M	0.89478	3.035	0.80722	D	1	P;D;D	0.65815	0.92;0.995;0.982	P;D;D	0.70487	0.833;0.969;0.917	T	0.00428	-1.1745	10	0.66056	D	0.02	-10.6617	15.4259	0.75051	1.0:0.0:0.0:0.0	.	231;321;268	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	G	268;268;163;274;321	ENSP00000261401:V268G;ENSP00000438341:V268G;ENSP00000415554:V163G;ENSP00000447534:V274G;ENSP00000394496:V321G	ENSP00000261401:V268G	V	-	2	0	CORO1C	107572263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.050000	0.60909	0.528000	0.53228	GTG	CORO1C	-	pfam_DUF1900,superfamily_WD40_repeat_dom	ENSG00000110880		0.363	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	HGNC	protein_coding	OTTHUMT00000403802.1	164	0.00	0	A	NM_014325		109048134	109048134	-1	no_errors	ENST00000420959	ensembl	human	known	69_37n	missense	113	16.91	23	SNP	1.000	C
COX7A2	1347	genome.wustl.edu	37	6	75953491	75953491	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:75953491A>C	ENST00000230459.4	-	0	153				COX7A2_ENST00000370081.2_Missense_Mutation_p.V19G|COX7A2_ENST00000370089.2_Missense_Mutation_p.V19G|COX7A2_ENST00000509698.1_5'UTR|COX7A2_ENST00000460985.1_5'UTR|COX7A2_ENST00000472311.2_5'UTR	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						ACTGAACACCACCAACGAAAA	0.547																																						dbGAP											0													102.0	104.0	103.0					6																	75953491		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.-41T>G	6.37:g.75953491A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.V19G	ENST00000230459.4	37	c.56		6	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027970	0.35797	.	.	ENSG00000112695	ENST00000370081;ENST00000370089	T;T	0.54866	0.55;0.55	5.56	-3.66	0.04489	.	1.433560	0.05559	N	0.568813	T	0.10809	0.0264	N	0.08118	0	0.20196	N	0.999926	.	.	.	.	.	.	T	0.23297	-1.0192	8	0.87932	D	0	1.7353	1.1454	0.01774	0.3444:0.2722:0.2516:0.1318	.	.	.	.	G	19	ENSP00000359098:V19G;ENSP00000359106:V19G	ENSP00000359098:V19G	V	-	2	0	COX7A2	76010211	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.309000	0.02728	-0.470000	0.06901	-0.366000	0.07423	GTG	COX7A2	-	NULL	ENSG00000112695		0.547	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	COX7A2	HGNC	protein_coding		185	0.00	0	A	NM_001865		75953491	75953491	-1	no_errors	ENST00000370081	ensembl	human	known	69_37n	missense	289	11.31	37	SNP	0.000	C
CP	1356	genome.wustl.edu	37	3	148895649	148895649	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:148895649T>G	ENST00000264613.6	-	17	3258	c.2996A>C	c.(2995-2997)cAc>cCc	p.H999P		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	999	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCTATGGCCGTGAAAATGTAC	0.393																																						dbGAP											0													216.0	190.0	199.0					3																	148895649		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2996A>C	3.37:g.148895649T>G	ENSP00000264613:p.His999Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.H999P	ENST00000264613.6	37	c.2996	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232682	0.79688	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99913	-7.97;-7.97;-7.97	5.6	5.6	0.85130	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.048647	0.85682	D	0.000000	D	0.99937	0.9972	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.95755	0.8795	10	0.87932	D	0	-27.5045	15.7869	0.78310	0.0:0.0:0.0:1.0	.	999;999;999;712	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	P	134;999;782	ENSP00000420367:H134P;ENSP00000264613:H999P;ENSP00000420545:H782P	ENSP00000264613:H999P	H	-	2	0	CP	150378339	1.000000	0.71417	0.946000	0.38457	0.747000	0.42532	8.021000	0.88750	2.125000	0.65367	0.455000	0.32223	CAC	CP	-	pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin	ENSG00000047457		0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	286	0.69	2	T	NM_000096		148895649	148895649	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	missense	262	10.58	31	SNP	0.998	G
CPA1	1357	genome.wustl.edu	37	7	130027832	130027832	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:130027832A>C	ENST00000011292.3	+	10	1390	c.1240A>C	c.(1240-1242)Acc>Ccc	p.T414P	CPA1_ENST00000484324.1_Missense_Mutation_p.T326P	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	414					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CATGGAGCACACCCTGAATCA	0.577																																						dbGAP											0													215.0	197.0	203.0					7																	130027832		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1240A>C	7.37:g.130027832A>C	ENSP00000011292:p.Thr414Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.T414P	ENST00000011292.3	37	c.1240	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	A	32	5.148142	0.94603	.	.	ENSG00000091704	ENST00000011292;ENST00000484324	T;T	0.15718	2.76;2.4	5.86	0.919	0.19392	.	0.179467	0.64402	D	0.000012	T	0.37892	0.1020	M	0.83692	2.655	0.53688	D	0.99997	D	0.53619	0.961	P	0.62649	0.905	T	0.25398	-1.0133	10	0.87932	D	0	.	10.0289	0.42087	0.66:0.0:0.34:0.0	.	414	P15085	CBPA1_HUMAN	P	414;326	ENSP00000011292:T414P;ENSP00000419497:T326P	ENSP00000011292:T414P	T	+	1	0	CPA1	129815068	0.001000	0.12720	0.062000	0.19696	0.992000	0.81027	0.116000	0.15561	0.203000	0.20529	0.528000	0.53228	ACC	CPA1	-	NULL	ENSG00000091704		0.577	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	235	0.00	0	A	NM_001868		130027832	130027832	+1	no_errors	ENST00000011292	ensembl	human	known	69_37n	missense	230	14.81	40	SNP	0.975	C
CPA6	57094	genome.wustl.edu	37	8	68430281	68430281	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:68430281A>C	ENST00000297770.4	-	3	409	c.194T>G	c.(193-195)gTg>gGg	p.V65G	CPA6_ENST00000518549.1_Splice_Site_p.V65G|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	65						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCACAGGTCCACCTGTAGTGC	0.453																																						dbGAP											0													89.0	81.0	84.0					8																	68430281		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.193-1T>G	8.37:g.68430281A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.V65G	ENST00000297770.4	37	c.194	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534313	0.85812	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.16324	2.35;2.35	6.06	6.06	0.98353	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.134911	0.49916	D	0.000140	T	0.39627	0.1085	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.945	T	0.05053	-1.0909	10	0.46703	T	0.11	.	16.2708	0.82618	1.0:0.0:0.0:0.0	.	65;65	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	G	65	ENSP00000297770:V65G;ENSP00000431112:V65G	ENSP00000297770:V65G	V	-	2	0	CPA6	68592835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.123000	0.77176	2.324000	0.78689	0.533000	0.62120	GTG	CPA6	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000165078		0.453	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	107	0.00	0	A	NM_020361	Missense_Mutation	68430281	68430281	-1	no_errors	ENST00000297770	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	1.000	C
CPAMD8	27151	genome.wustl.edu	37	19	17036038	17036038	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:17036038A>C	ENST00000443236.1	-	26	3687	c.3656T>G	c.(3655-3657)gTg>gGg	p.V1219G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1172						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCTCTCTCCACCTCAGGGCT	0.542																																						dbGAP											0													99.0	100.0	100.0					19																	17036038		1990	4173	6163	-	-	-	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3656T>G	19.37:g.17036038A>C	ENSP00000402505:p.Val1219Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.V1219G	ENST00000443236.1	37	c.3656	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400641|3.400641	0.62177|0.62177	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.66|2.66	2.66|2.66	0.31614|0.31614	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);|.	0.088310|.	0.45867|.	U|.	0.000331|.	T|T	0.62490|0.62490	0.2432|0.2432	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	P|.	0.59115|.	0.852|.	T|T	0.59716|0.59716	-0.7402|-0.7402	9|5	0.87932|.	D|.	0|.	.|.	10.5326|10.5326	0.44986|0.44986	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1172|.	Q8IZJ3|.	CPMD8_HUMAN|.	G|G	1219|1230	.|.	ENSP00000291440:V1219G|.	V|W	-|-	2|1	0|0	CPAMD8|CPAMD8	16897038|16897038	1.000000|1.000000	0.71417|0.71417	0.750000|0.750000	0.31169|0.31169	0.952000|0.952000	0.60782|0.60782	7.527000|7.527000	0.81931|0.81931	0.836000|0.836000	0.34901|0.34901	0.459000|0.459000	0.35465|0.35465	GTG|TGG	CPAMD8	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.542	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	114	0.00	0	A	NM_015692		17036038	17036038	-1	no_errors	ENST00000291440	ensembl	human	known	69_37n	missense	145	17.51	31	SNP	1.000	C
CPB2	1361	genome.wustl.edu	37	13	46627811	46627811	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:46627811T>G	ENST00000181383.4	-	11	1226	c.1210A>C	c.(1210-1212)Acc>Ccc	p.T404P	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Silent_p.P349P|CPB2-AS1_ENST00000415033.2_RNA|ZC3H13_ENST00000282007.3_5'Flank|ZC3H13_ENST00000242848.4_5'Flank|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	404					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCTCTACAGGTGGGTTTGATG	0.408																																						dbGAP											0													109.0	112.0	111.0					13																	46627811		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1210A>C	13.37:g.46627811T>G	ENSP00000181383:p.Thr404Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.T404P	ENST00000181383.4	37	c.1210	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	T	16.73	3.205067	0.58234	.	.	ENSG00000080618	ENST00000181383	T	0.33216	1.42	5.84	4.68	0.58851	Peptidase M14, carboxypeptidase A (2);	0.090822	0.85682	D	0.000000	T	0.66567	0.2802	H	0.97732	4.065	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	T	0.76908	-0.2785	10	0.87932	D	0	.	10.603	0.45377	0.0:0.0745:0.0:0.9255	.	404	Q96IY4	CBPB2_HUMAN	P	404	ENSP00000181383:T404P	ENSP00000181383:T404P	T	-	1	0	CPB2	45525812	1.000000	0.71417	0.864000	0.33941	0.194000	0.23727	3.391000	0.52530	2.234000	0.73211	0.459000	0.35465	ACC	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000080618		0.408	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	177	0.00	0	T	NM_001872		46627811	46627811	-1	no_errors	ENST00000181383	ensembl	human	known	69_37n	missense	122	17.01	25	SNP	0.997	G
CPB2	1361	genome.wustl.edu	37	13	46627815	46627815	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:46627815T>G	ENST00000181383.4	-	11	1222	c.1206A>C	c.(1204-1206)aaA>aaC	p.K402N	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.N348T|CPB2-AS1_ENST00000415033.2_RNA|ZC3H13_ENST00000282007.3_5'Flank|ZC3H13_ENST00000242848.4_5'Flank|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	402					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACAGGTGGGTTTGATGTAAC	0.423																																						dbGAP											0													110.0	113.0	112.0					13																	46627815		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1206A>C	13.37:g.46627815T>G	ENSP00000181383:p.Lys402Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.K402N	ENST00000181383.4	37	c.1206	CCDS9401.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.99|13.99	2.401753|2.401753	0.42613|0.42613	.|.	.|.	ENSG00000080618|ENSG00000080618	ENST00000181383|ENST00000439329	T|T	0.11277|0.10477	2.79|2.87	5.84|5.84	-0.706|-0.706	0.11249|0.11249	Peptidase M14, carboxypeptidase A (2);|.	0.760949|.	0.13647|.	N|.	0.372556|.	T|T	0.12433|0.12433	0.0302|0.0302	M|M	0.63208|0.63208	1.945|1.945	0.09310|0.09310	N|N	0.999997|0.999997	P|B	0.46656|0.25904	0.882|0.137	P|B	0.44921|0.21917	0.464|0.037	T|T	0.23762|0.23762	-1.0179|-1.0179	10|9	0.52906|0.87932	T|D	0.07|0	.|.	10.3519|10.3519	0.43941|0.43941	0.0:0.5491:0.0:0.4509|0.0:0.5491:0.0:0.4509	.|.	402|348	Q96IY4|Q96IY4-2	CBPB2_HUMAN|.	N|T	402|348	ENSP00000181383:K402N|ENSP00000400714:N348T	ENSP00000181383:K402N|ENSP00000400714:N348T	K|N	-|-	3|2	2|0	CPB2|CPB2	45525816|45525816	0.000000|0.000000	0.05858|0.05858	0.891000|0.891000	0.34965|0.34965	0.219000|0.219000	0.24729|0.24729	-0.779000|-0.779000	0.04659|0.04659	-0.083000|-0.083000	0.12618|0.12618	-0.379000|-0.379000	0.06801|0.06801	AAA|AAC	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000080618		0.423	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	171	0.58	1	T	NM_001872		46627815	46627815	-1	no_errors	ENST00000181383	ensembl	human	known	69_37n	missense	112	18.25	25	SNP	0.206	G
CPEB3	22849	genome.wustl.edu	37	10	93841170	93841170	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:93841170A>C	ENST00000265997.4	-	9	1948	c.1776T>G	c.(1774-1776)ggT>ggG	p.G592G	CPEB3_ENST00000412050.4_Silent_p.G578G	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	592	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CGCGGCCAGCACCTTTGGGGT	0.493																																						dbGAP											0													115.0	101.0	105.0					10																	93841170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1776T>G	10.37:g.93841170A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G592	ENST00000265997.4	37	c.1776	CCDS31246.1	10																																																																																			CPEB3	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000107864		0.493	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	113	0.87	1	A	NM_014912		93841170	93841170	-1	no_errors	ENST00000265997	ensembl	human	known	69_37n	silent	88	15.24	16	SNP	0.999	C
CPQ	10404	genome.wustl.edu	37	8	97892091	97892091	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:97892091T>G	ENST00000220763.5	+	4	917	c.707T>G	c.(706-708)gTg>gGg	p.V236G		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	236					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TGTATTACGGTGGAAGATGCA	0.458																																						dbGAP											0													177.0	173.0	174.0					8																	97892091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.707T>G	8.37:g.97892091T>G	ENSP00000220763:p.Val236Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.V236G	ENST00000220763.5	37	c.707	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230366	0.58777	.	.	ENSG00000104324	ENST00000220763	T	0.48201	0.82	5.53	5.53	0.82687	.	0.142434	0.46442	D	0.000290	T	0.61974	0.2390	M	0.74546	2.27	0.58432	D	0.999999	P;P	0.49358	0.923;0.783	P;P	0.55871	0.786;0.581	T	0.60885	-0.7174	10	0.31617	T	0.26	-27.8314	13.734	0.62807	0.0:0.0:0.0:1.0	.	236;236	B5MDX4;Q9Y646	.;PGCP_HUMAN	G	236	ENSP00000220763:V236G	ENSP00000220763:V236G	V	+	2	0	AC010859.1	97961267	1.000000	0.71417	0.982000	0.44146	0.968000	0.65278	7.679000	0.84048	2.238000	0.73509	0.477000	0.44152	GTG	CPQ	-	NULL	ENSG00000104324		0.458	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	248	0.40	1	T	NM_016134		97892091	97892091	+1	no_errors	ENST00000220763	ensembl	human	known	69_37n	missense	222	10.40	26	SNP	1.000	G
CPSF2	53981	genome.wustl.edu	37	14	92625617	92625617	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:92625617A>C	ENST00000298875.4	+	14	2397	c.2112A>C	c.(2110-2112)ccA>ccC	p.P704P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	704					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AACCCTTGCCACCTCATGAGG	0.383																																					Ovarian(78;28 1788 18702 44111)	dbGAP											0													69.0	71.0	70.0					14																	92625617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2112A>C	14.37:g.92625617A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_RMMBL	p.H221P	ENST00000298875.4	37	c.662	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	A	3.960	-0.010495	0.07727	.	.	ENSG00000165934	ENST00000555244	.	.	.	5.08	-7.62	0.01294	.	.	.	.	.	T	0.31949	0.0813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40040	-0.9584	4	.	.	.	.	0.116	0.00060	0.2694:0.1985:0.2417:0.2904	.	.	.	.	P	221	.	.	H	+	2	0	CPSF2	91695370	0.000000	0.05858	0.265000	0.24526	0.659000	0.38960	-3.694000	0.00391	-1.460000	0.01911	0.482000	0.46254	CAC	CPSF2	-	NULL	ENSG00000165934		0.383	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	160	0.00	0	A			92625617	92625617	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000555244	ensembl	human	novel	69_37n	missense	113	12.31	16	SNP	0.004	C
CREB5	9586	genome.wustl.edu	37	7	28610009	28610009	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:28610009T>G	ENST00000357727.2	+	5	708	c.318T>G	c.(316-318)ggT>ggG	p.G106G	CREB5_ENST00000396299.2_Silent_p.G73G|CREB5_ENST00000409603.1_Silent_p.G73G|CREB5_ENST00000396300.2_Silent_p.G99G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	106					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGCAGTTGGTGGGGCCATGA	0.542																																						dbGAP											0													84.0	81.0	82.0					7																	28610009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.318T>G	7.37:g.28610009T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.G106	ENST00000357727.2	37	c.318	CCDS5417.1	7																																																																																			CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	164	0.61	1	T	NM_004904		28610009	28610009	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	silent	220	12.65	32	SNP	0.998	G
CRIM1	51232	genome.wustl.edu	37	2	36691721	36691721	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:36691721T>G	ENST00000280527.2	+	5	1281	c.914T>G	c.(913-915)gTg>gGg	p.V305G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	305					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTGTGTGAGGTGGGATCCACT	0.478																																						dbGAP											0													274.0	247.0	256.0					2																	36691721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.914T>G	2.37:g.36691721T>G	ENSP00000280527:p.Val305Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.V305G	ENST00000280527.2	37	c.914	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962262	0.34659	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04234	3.67	5.94	4.79	0.61399	.	0.061558	0.64402	D	0.000009	T	0.03136	0.0092	N	0.19112	0.55	0.52501	D	0.999956	B	0.27229	0.172	B	0.22386	0.039	T	0.53027	-0.8496	10	0.22706	T	0.39	-14.2927	6.7366	0.23413	0.0:0.2481:0.0:0.7519	.	305	Q9NZV1	CRIM1_HUMAN	G	305;197	ENSP00000280527:V305G	ENSP00000280527:V305G	V	+	2	0	CRIM1	36545225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.325000	0.43840	1.081000	0.41110	0.528000	0.53228	GTG	CRIM1	-	NULL	ENSG00000150938		0.478	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	271	0.37	1	T	NM_016441		36691721	36691721	+1	no_errors	ENST00000280527	ensembl	human	known	69_37n	missense	223	13.23	34	SNP	1.000	G
CRISPLD1	83690	genome.wustl.edu	37	8	75929616	75929616	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:75929616T>G	ENST00000262207.4	+	10	1526	c.1058T>G	c.(1057-1059)gTa>gGa	p.V353G	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.V167G|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.V165G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	353	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GGTGGCTGGGTAGATATCACT	0.338																																						dbGAP											0													126.0	136.0	133.0					8																	75929616		2203	4297	6500	-	-	-	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1058T>G	8.37:g.75929616T>G	ENSP00000262207:p.Val353Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.V353G	ENST00000262207.4	37	c.1058	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424663	0.83667	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.90504	-2.68;-2.68;-2.68	5.42	5.42	0.78866	LCCL (5);	0.126307	0.56097	D	0.000040	D	0.93468	0.7916	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.87578	0.998;0.773	D	0.94170	0.7422	10	0.87932	D	0	.	15.6293	0.76888	0.0:0.0:0.0:1.0	.	167;353	B7Z929;Q9H336	.;CRLD1_HUMAN	G	353;165;167	ENSP00000262207:V353G;ENSP00000430105:V165G;ENSP00000429746:V167G	ENSP00000262207:V353G	V	+	2	0	CRISPLD1	76092171	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.770000	0.68873	2.276000	0.75962	0.528000	0.53228	GTA	CRISPLD1	-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	ENSG00000121005		0.338	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	125	0.00	0	T	NM_031461		75929616	75929616	+1	no_errors	ENST00000262207	ensembl	human	known	69_37n	missense	73	17.98	16	SNP	1.000	G
CROT	54677	genome.wustl.edu	37	7	87005251	87005251	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:87005251A>C	ENST00000331536.3	+	9	1043	c.858A>C	c.(856-858)acA>acC	p.T286T	CROT_ENST00000419147.2_Silent_p.T314T|CROT_ENST00000442291.1_Silent_p.T286T	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	286					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CACATGTAACACCAGAGGATT	0.333																																						dbGAP											0													82.0	81.0	81.0					7																	87005251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.858A>C	7.37:g.87005251A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	pfam_Carn_acyl_trans	p.T286	ENST00000331536.3	37	c.858	CCDS5604.1	7																																																																																			CROT	-	pfam_Carn_acyl_trans	ENSG00000005469		0.333	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	239	0.00	0	A	NM_021151		87005251	87005251	+1	no_errors	ENST00000331536	ensembl	human	known	69_37n	silent	184	10.68	22	SNP	0.979	C
CRYBB2	1415	genome.wustl.edu	37	22	25627726	25627726	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:25627726A>C	ENST00000398215.2	+	6	776	c.605A>C	c.(604-606)cAc>cCc	p.H202P		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	202	C-terminal arm.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GGTGCCTTCCACCCCTCCAAC	0.627																																						dbGAP											0													90.0	70.0	77.0					22																	25627726		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.605A>C	22.37:g.25627726A>C	ENSP00000381273:p.His202Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCM8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.H202P	ENST00000398215.2	37	c.605	CCDS13831.1	22	.	.	.	.	.	.	.	.	.	.	a	3.807	-0.040421	0.07497	.	.	ENSG00000244752	ENST00000398215	T	0.76316	-1.01	3.98	2.92	0.33932	.	0.053015	0.85682	D	0.000000	T	0.61223	0.2330	N	0.24115	0.695	0.50813	D	0.99989	B	0.06786	0.001	B	0.06405	0.002	T	0.49652	-0.8917	10	0.30854	T	0.27	.	8.4221	0.32707	0.8014:0.1986:0.0:0.0	.	202	P43320	CRBB2_HUMAN	P	202	ENSP00000381273:H202P	ENSP00000381273:H202P	H	+	2	0	CRYBB2	23957726	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	4.351000	0.59398	0.398000	0.25338	-0.648000	0.03929	CAC	CRYBB2	-	NULL	ENSG00000244752		0.627	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB2	HGNC	protein_coding	OTTHUMT00000320350.1	105	0.93	1	A	NM_000496		25627726	25627726	+1	no_errors	ENST00000398215	ensembl	human	known	69_37n	missense	68	25.53	24	SNP	1.000	C
CRYBG3	131544	genome.wustl.edu	37	3	97596270	97596270	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:97596270T>G	ENST00000182096.4	+	1	452	c.388T>G	c.(388-390)Tac>Gac	p.Y130D		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2078							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGCCAAAAGGTACAAAATTTA	0.408																																						dbGAP											0													94.0	91.0	92.0					3																	97596270		1913	4120	6033	-	-	-	SO:0001583	missense	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.388T>G	3.37:g.97596270T>G	ENSP00000182096:p.Tyr130Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.Y130D	ENST00000182096.4	37	c.388		3	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624750	0.66901	.	.	ENSG00000080200	ENST00000182096	T	0.80994	-1.44	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000040	D	0.84042	0.5385	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.85980	0.1482	10	0.87932	D	0	.	14.5051	0.67748	0.0:0.0:0.0:1.0	.	130	Q68DQ2	CRBG3_HUMAN	D	130	ENSP00000182096:Y130D	ENSP00000182096:Y130D	Y	+	1	0	CRYBG3	99078960	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.785000	0.62418	2.177000	0.69029	0.528000	0.53228	TAC	CRYBG3	-	NULL	ENSG00000080200		0.408	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	209	0.00	0	T	NM_153605		97596270	97596270	+1	no_errors	ENST00000182096	ensembl	human	known	69_37n	missense	199	13.48	31	SNP	1.000	G
CRYBG3	131544	genome.wustl.edu	37	3	97660030	97660030	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:97660030T>G	ENST00000182096.4	+	17	2764	c.2700T>G	c.(2698-2700)ggT>ggG	p.G900G	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.G107G	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2848							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTGCCCAGGGTGAATATCTGA	0.438																																						dbGAP											0													104.0	101.0	102.0					3																	97660030		1868	4095	5963	-	-	-	SO:0001819	synonymous_variant	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2700T>G	3.37:g.97660030T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G900	ENST00000182096.4	37	c.2700		3																																																																																			CRYBG3	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin	ENSG00000080200		0.438	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	171	0.00	0	T	NM_153605		97660030	97660030	+1	no_errors	ENST00000182096	ensembl	human	known	69_37n	silent	119	12.50	17	SNP	0.107	G
CSE1L	1434	genome.wustl.edu	37	20	47712943	47712943	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:47712943T>G	ENST00000262982.2	+	25	3007	c.2884T>G	c.(2884-2886)Tac>Gac	p.Y962D	CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Missense_Mutation_p.Y745D|CSE1L_ENST00000396192.3_Missense_Mutation_p.Y906D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	962					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTCCAAGGGTACCTTCAGGC	0.493																																						dbGAP											0													139.0	115.0	123.0					20																	47712943		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2884T>G	20.37:g.47712943T>G	ENSP00000262982:p.Tyr962Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Y962D	ENST00000262982.2	37	c.2884	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554412	0.86231	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.57595	0.39;0.39;0.39	5.72	5.72	0.89469	Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.999;0.979;0.998;0.998	T	0.80350	-0.1419	10	0.87932	D	0	-3.6533	16.2988	0.82793	0.0:0.0:0.0:1.0	.	745;906;906;962	B4DUC5;A3RLL6;F8W904;P55060	.;.;.;XPO2_HUMAN	D	560;962;745;906	ENSP00000262982:Y962D;ENSP00000446477:Y745D;ENSP00000379495:Y906D	ENSP00000262982:Y962D	Y	+	1	0	CSE1L	47146350	1.000000	0.71417	0.939000	0.37840	0.997000	0.91878	7.655000	0.83696	2.311000	0.77944	0.533000	0.62120	TAC	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.493	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	106	0.00	0	T	NM_001316		47712943	47712943	+1	no_errors	ENST00000262982	ensembl	human	known	69_37n	missense	93	14.68	16	SNP	0.998	G
CSF1R	1436	genome.wustl.edu	37	5	149452912	149452912	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:149452912T>G	ENST00000286301.3	-	7	1325	c.1034A>C	c.(1033-1035)cAc>cCc	p.H345P	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	345	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCAGGCTGGTGGTCAGAAAA	0.567																																						dbGAP											0													229.0	209.0	216.0					5																	149452912		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1034A>C	5.37:g.149452912T>G	ENSP00000286301:p.His345Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.H345P	ENST00000286301.3	37	c.1034	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	T	8.114	0.779377	0.16120	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.27557	1.66	4.81	-2.61	0.06171	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B;B	0.29115	0.233;0.0	B;B	0.33042	0.157;0.001	T	0.32955	-0.9887	9	0.38643	T	0.18	.	5.8778	0.18838	0.0:0.1945:0.5036:0.3019	.	197;345	B4E2Y8;P07333	.;CSF1R_HUMAN	P	345;197	ENSP00000286301:H345P	ENSP00000286301:H345P	H	-	2	0	CSF1R	149433105	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	0.213000	0.17521	-0.070000	0.12908	-1.148000	0.01847	CAC	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub	ENSG00000182578		0.567	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	340	0.00	0	T	NM_005211		149452912	149452912	-1	no_errors	ENST00000286301	ensembl	human	known	69_37n	missense	343	12.47	49	SNP	0.000	G
CSF2RA	1438	genome.wustl.edu	37	X	1407919	1407919	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:1407919A>C	ENST00000381524.3	+	6	659				BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000417535.2_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000432318.2_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	caatggtgccacctcggctca	0.517																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.473+138A>C	X.37:g.1407919A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	RNA	SNP	-	NULL	ENST00000381524.3	37	NULL	CCDS35191.1	X																																																																																			CSF2RA	-	-	ENSG00000198223		0.517	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	24	0.00	0	A			1407919	1407919	+1	no_errors	ENST00000478256	ensembl	human	putative	69_37n	rna	53	24.29	17	SNP	0.002	C
CSGALNACT1	55790	genome.wustl.edu	37	8	19263579	19263579	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:19263579A>C	ENST00000454498.2	-	10	2324	c.1311T>G	c.(1309-1311)ggT>ggG	p.G437G	CSGALNACT1_ENST00000311540.4_Splice_Site_p.G437G|CSGALNACT1_ENST00000522854.1_Splice_Site_p.G437G|CSGALNACT1_ENST00000332246.6_Splice_Site_p.G437G|CSGALNACT1_ENST00000544602.1_Splice_Site_p.G437G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	437					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GATCAAACCCACCTGTCGGGA	0.502																																						dbGAP											0													98.0	95.0	96.0					8																	19263579		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1310-1T>G	8.37:g.19263579A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	pfam_Chond_GalNAc	p.G437	ENST00000454498.2	37	c.1311	CCDS6010.1	8																																																																																			CSGALNACT1	-	pfam_Chond_GalNAc	ENSG00000147408		0.502	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	118	0.00	0	A	NM_018371	Silent	19263579	19263579	-1	no_errors	ENST00000311540	ensembl	human	known	69_37n	silent	125	13.79	20	SNP	1.000	C
CSGALNACT2	55454	genome.wustl.edu	37	10	43678729	43678729	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:43678729T>G	ENST00000374466.3	+	8	1703	c.1368T>G	c.(1366-1368)ggT>ggG	p.G456G		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	456					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGGTTGGGGTGGAGAAGATG	0.403																																						dbGAP											0													136.0	135.0	135.0					10																	43678729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1368T>G	10.37:g.43678729T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	pfam_Chond_GalNAc	p.G456	ENST00000374466.3	37	c.1368	CCDS7201.1	10																																																																																			CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.403	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	205	0.00	0	T	NM_018590		43678729	43678729	+1	no_errors	ENST00000374466	ensembl	human	known	69_37n	silent	185	15.45	34	SNP	1.000	G
CSMD1	64478	genome.wustl.edu	37	8	3165333	3165333	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:3165333A>C	ENST00000520002.1	-	26	4392	c.3837T>G	c.(3835-3837)ggT>ggG	p.G1279G	CSMD1_ENST00000602557.1_Silent_p.G1279G|CSMD1_ENST00000400186.3_Silent_p.G1279G|CSMD1_ENST00000542608.1_Silent_p.G1278G|CSMD1_ENST00000539096.1_Silent_p.G1278G|CSMD1_ENST00000537824.1_Silent_p.G1278G|CSMD1_ENST00000602723.1_Silent_p.G1279G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1279	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATCTGACCACCACATTCCG	0.473																																						dbGAP											0													101.0	100.0	101.0					8																	3165333		2032	4209	6241	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3837T>G	8.37:g.3165333A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.W759G	ENST00000520002.1	37	c.2275		8	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983376	0.18889	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.61	-9.21	0.00678	.	.	.	.	.	T	0.44705	0.1306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52518	-0.8565	4	.	.	.	.	6.5002	0.22164	0.4608:0.0:0.3753:0.1639	.	.	.	.	G	759	.	.	W	-	1	0	CSMD1	3152740	0.001000	0.12720	0.043000	0.18650	0.903000	0.53119	-1.599000	0.02085	-2.802000	0.00351	-0.297000	0.09499	TGG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	225	0.00	0	A	NM_033225		3165333	3165333	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	193	15.28	35	SNP	0.450	C
CSMD3	114788	genome.wustl.edu	37	8	114186099	114186099	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:114186099A>C	ENST00000297405.5	-	4	805	c.561T>G	c.(559-561)ggT>ggG	p.G187G	CSMD3_ENST00000343508.3_Silent_p.G147G|CSMD3_ENST00000352409.3_Silent_p.G187G|CSMD3_ENST00000455883.2_Silent_p.G187G|CSMD3_ENST00000519485.1_5'Flank	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	187	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATAATACACCTTTGGGTG	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													96.0	89.0	91.0					8																	114186099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.561T>G	8.37:g.114186099A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G187	ENST00000297405.5	37	c.561	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	118	0.00	0	A	NM_052900		114186099	114186099	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	silent	91	21.37	25	SNP	0.998	C
CSTL1	128817	genome.wustl.edu	37	20	23420986	23420986	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:23420986T>G	ENST00000246020.2	+	1	102	c.82T>G	c.(82-84)Tgg>Ggg	p.W28G	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000347397.1_Missense_Mutation_p.W28G			Q9H114	CST1L_HUMAN	cystatin-like 1	28						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTTCCAAAGGTGGGAGGGCTT	0.507																																						dbGAP											0													127.0	111.0	116.0					20																	23420986		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.82T>G	20.37:g.23420986T>G	ENSP00000246020:p.Trp28Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RA8|Q64FF7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.W28G	ENST00000246020.2	37	c.82	CCDS13153.1	20	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985488	0.35036	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.10382	2.88;2.88	4.33	4.33	0.51752	Proteinase inhibitor I25, cystatin (1);	0.000000	0.45867	D	0.000326	T	0.18425	0.0442	L	0.27053	0.805	0.37294	D	0.908398	D	0.89917	1.0	D	0.80764	0.994	T	0.04320	-1.0960	10	0.56958	D	0.05	-0.0018	10.1862	0.43000	0.0:0.0:0.0:1.0	.	28	Q9H114	CST1L_HUMAN	G	28	ENSP00000344907:W28G;ENSP00000246020:W28G	ENSP00000246020:W28G	W	+	1	0	CSTL1	23368986	1.000000	0.71417	0.757000	0.31301	0.218000	0.24690	2.773000	0.47686	2.176000	0.68965	0.533000	0.62120	TGG	CSTL1	-	smart_Prot_inh_cystat	ENSG00000125823		0.507	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTL1	HGNC	protein_coding	OTTHUMT00000078328.1	140	0.70	1	T			23420986	23420986	+1	no_errors	ENST00000246020	ensembl	human	known	69_37n	missense	94	21.77	27	SNP	0.775	G
CTAGE5	4253	genome.wustl.edu	37	14	39818102	39818102	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:39818102T>C	ENST00000280083.3	+	23	2483	c.2169T>C	c.(2167-2169)ccT>ccC	p.P723P	CTAGE5_ENST00000396158.2_Silent_p.P728P|CTAGE5_ENST00000341502.5_Silent_p.P723P|CTAGE5_ENST00000557038.1_Silent_p.P643P|RP11-407N17.3_ENST00000603904.1_Silent_p.P694P|CTAGE5_ENST00000556148.1_Silent_p.P648P|CTAGE5_ENST00000396165.4_Silent_p.P694P|CTAGE5_ENST00000553352.1_Silent_p.P694P|CTAGE5_ENST00000341749.3_Silent_p.P711P|CTAGE5_ENST00000348007.3_Silent_p.P680P|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000553728.1_Silent_p.P1258P			O15320	CTGE5_HUMAN	CTAGE family, member 5	723	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCCCACCTCCTCCAGGAGCCA	0.493																																						dbGAP											0													92.0	99.0	96.0					14																	39818102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2169T>C	14.37:g.39818102T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.P728	ENST00000280083.3	37	c.2184	CCDS9674.1	14																																																																																			CTAGE5	-	NULL	ENSG00000150527		0.493	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	646	0.91	6	T	NM_005930		39818102	39818102	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	silent	353	18.20	79	SNP	1.000	C
CTAGE5	4253	genome.wustl.edu	37	14	39818141	39818141	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:39818141A>C	ENST00000280083.3	+	23	2522	c.2208A>C	c.(2206-2208)ccA>ccC	p.P736P	CTAGE5_ENST00000396158.2_Silent_p.P741P|CTAGE5_ENST00000341502.5_Silent_p.P736P|CTAGE5_ENST00000557038.1_Silent_p.P656P|RP11-407N17.3_ENST00000603904.1_Silent_p.P707P|CTAGE5_ENST00000556148.1_Silent_p.P661P|CTAGE5_ENST00000396165.4_Silent_p.P707P|CTAGE5_ENST00000553352.1_Silent_p.P707P|CTAGE5_ENST00000341749.3_Silent_p.P724P|CTAGE5_ENST00000348007.3_Silent_p.P693P|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000553728.1_Silent_p.P1271P			O15320	CTGE5_HUMAN	CTAGE family, member 5	736	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ATTATTTTCCACCAGGGGATT	0.443																																						dbGAP											0													72.0	77.0	75.0					14																	39818141		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2208A>C	14.37:g.39818141A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.P741	ENST00000280083.3	37	c.2223	CCDS9674.1	14																																																																																			CTAGE5	-	NULL	ENSG00000150527		0.443	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	645	0.46	3	A	NM_005930		39818141	39818141	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	silent	418	14.14	69	SNP	1.000	C
CTAGE5	4253	genome.wustl.edu	37	14	39818165	39818165	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:39818165A>C	ENST00000280083.3	+	23	2546	c.2232A>C	c.(2230-2232)ccA>ccC	p.P744P	CTAGE5_ENST00000396158.2_Silent_p.P749P|CTAGE5_ENST00000341502.5_Silent_p.P744P|CTAGE5_ENST00000557038.1_Silent_p.P664P|RP11-407N17.3_ENST00000603904.1_Silent_p.P715P|CTAGE5_ENST00000556148.1_Silent_p.P669P|CTAGE5_ENST00000396165.4_Silent_p.P715P|CTAGE5_ENST00000553352.1_Silent_p.P715P|CTAGE5_ENST00000341749.3_Silent_p.P732P|CTAGE5_ENST00000348007.3_Silent_p.P701P|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000553728.1_Silent_p.P1279P			O15320	CTGE5_HUMAN	CTAGE family, member 5	744	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAGGTCCACCACCTGCTCCAT	0.403																																						dbGAP											0													57.0	62.0	60.0					14																	39818165		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2232A>C	14.37:g.39818165A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.P749	ENST00000280083.3	37	c.2247	CCDS9674.1	14																																																																																			CTAGE5	-	NULL	ENSG00000150527		0.403	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	604	0.49	3	A	NM_005930		39818165	39818165	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	silent	363	15.97	69	SNP	0.872	C
CTAGE5	4253	genome.wustl.edu	37	14	39819417	39819417	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:39819417A>C	ENST00000280083.3	+	24	2678	c.2364A>C	c.(2362-2364)ccA>ccC	p.P788P	CTAGE5_ENST00000396158.2_Silent_p.P793P|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000557038.1_Silent_p.P708P|RP11-407N17.3_ENST00000603904.1_Silent_p.P759P|CTAGE5_ENST00000556148.1_Silent_p.P713P|CTAGE5_ENST00000396165.4_Silent_p.P759P|CTAGE5_ENST00000553352.1_Silent_p.P759P|CTAGE5_ENST00000341749.3_Silent_p.P776P|CTAGE5_ENST00000348007.3_Silent_p.P745P|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000553728.1_Silent_p.P1323P			O15320	CTGE5_HUMAN	CTAGE family, member 5	788	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTTTGATTCCACCTTCAAATG	0.458																																						dbGAP											0													91.0	92.0	91.0					14																	39819417		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2364A>C	14.37:g.39819417A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.P793	ENST00000280083.3	37	c.2379	CCDS9674.1	14																																																																																			CTAGE5	-	NULL	ENSG00000150527		0.458	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	507	0.39	2	A	NM_005930		39819417	39819417	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	silent	275	16.16	53	SNP	0.000	C
CTBS	1486	genome.wustl.edu	37	1	85029438	85029438	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:85029438T>G	ENST00000370630.5	-	5	823	c.775A>C	c.(775-777)Acc>Ccc	p.T259P	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	259					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTCAGGCAGGTATAATCATAA	0.313																																						dbGAP											0													105.0	104.0	104.0					1																	85029438		2203	4299	6502	-	-	-	SO:0001583	missense	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.775A>C	1.37:g.85029438T>G	ENSP00000359664:p.Thr259Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX50	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.T259P	ENST00000370630.5	37	c.775	CCDS698.1	1	.	.	.	.	.	.	.	.	.	.	T	1.070	-0.670057	0.03403	.	.	ENSG00000117151	ENST00000370630	T	0.07021	3.23	5.61	3.06	0.35304	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.584457	0.18674	N	0.134377	T	0.00998	0.0033	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48703	-0.9012	10	0.24483	T	0.36	-2.8359	8.3666	0.32391	0.0:0.0788:0.3668:0.5544	.	259	Q01459	DIAC_HUMAN	P	259	ENSP00000359664:T259P	ENSP00000359659:T168P	T	-	1	0	CTBS	84802026	0.015000	0.18098	0.998000	0.56505	0.988000	0.76386	0.257000	0.18369	0.935000	0.37341	0.528000	0.53228	ACC	CTBS	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000117151		0.313	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2	162	0.61	1	T	NM_004388		85029438	85029438	-1	no_errors	ENST00000370630	ensembl	human	known	69_37n	missense	65	16.67	13	SNP	0.172	G
CTC1	80169	genome.wustl.edu	37	17	8132722	8132722	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:8132722A>C	ENST00000315684.8	-	19	3061	c.3054T>G	c.(3052-3054)ggT>ggG	p.G1018G		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1018					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGACTGACCACCCTGCAGAA	0.532																																						dbGAP											0													110.0	113.0	112.0					17																	8132722		2005	4166	6171	-	-	-	SO:0001819	synonymous_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3054T>G	17.37:g.8132722A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.V1G	ENST00000315684.8	37	c.2	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	87	0.00	0	A	NM_025099		8132722	8132722	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000581729	ensembl	human	novel	69_37n	missense	59	22.37	17	SNP	0.000	C
CTIF	9811	genome.wustl.edu	37	18	46190868	46190868	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:46190868A>C	ENST00000256413.3	+	5	672	c.377A>C	c.(376-378)cAc>cCc	p.H126P	CTIF_ENST00000382998.4_Missense_Mutation_p.H126P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	126	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ACCCAGTTCCACCGCAAAGTC	0.652											OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													105.0	91.0	96.0					18																	46190868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.377A>C	18.37:g.46190868A>C	ENSP00000256413:p.His126Pro	Somatic	937	WXS	Illumina GAIIx	Phase_IV	B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.H126P	ENST00000256413.3	37	c.377	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909611	0.72868	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.56776	0.44;0.45	3.69	3.69	0.42338	.	0.247697	0.34245	N	0.004134	T	0.54919	0.1888	L	0.47716	1.5	0.47341	D	0.999395	P;P	0.50617	0.937;0.895	P;B	0.51385	0.668;0.347	T	0.60480	-0.7255	10	0.87932	D	0	-19.606	12.0156	0.53311	1.0:0.0:0.0:0.0	.	126;126	O43310-2;O43310	.;CTIF_HUMAN	P	126;126;78	ENSP00000256413:H126P;ENSP00000372459:H126P	ENSP00000256413:H126P	H	+	2	0	CTIF	44444866	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	7.237000	0.78164	1.628000	0.50416	0.459000	0.35465	CAC	CTIF	-	NULL	ENSG00000134030		0.652	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	145	0.68	1	A	NM_014772		46190868	46190868	+1	no_errors	ENST00000382998	ensembl	human	known	69_37n	missense	152	18.72	35	SNP	1.000	C
CTNNA1	1495	genome.wustl.edu	37	5	138266214	138266214	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:138266214T>G	ENST00000302763.7	+	15	2153	c.2063T>G	c.(2062-2064)gTg>gGg	p.V688G	CTNNA1_ENST00000540387.1_Missense_Mutation_p.V318G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.V688G|CTNNA1_ENST00000355078.5_Missense_Mutation_p.V585G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	688					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCGGAACAGGTGGCCAGCTTC	0.483																																						dbGAP											0													110.0	107.0	108.0					5																	138266214		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2063T>G	5.37:g.138266214T>G	ENSP00000304669:p.Val688Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.V688G	ENST00000302763.7	37	c.2063	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	T	28.0	4.879956	0.91740	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.39898	1.24	0.80722	D	1	D;D;P	0.56746	0.977;0.967;0.881	P;P;P	0.59424	0.791;0.857;0.756	T	0.36504	-0.9745	10	0.23891	T	0.37	-20.6831	16.0443	0.80707	0.0:0.0:0.0:1.0	.	688;565;688	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	G	585;688;688;673;688;318	ENSP00000347190:V585G;ENSP00000304669:V688G;ENSP00000427821:V688G;ENSP00000438476:V318G	ENSP00000304669:V688G	V	+	2	0	CTNNA1	138294113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.803000	0.85983	2.326000	0.78906	0.533000	0.62120	GTG	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000044115		0.483	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	154	0.65	1	T	NM_001903		138266214	138266214	+1	no_errors	ENST00000302763	ensembl	human	known	69_37n	missense	120	14.29	20	SNP	1.000	G
CTNNA2	1496	genome.wustl.edu	37	2	80816481	80816481	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:80816481T>G	ENST00000402739.4	+	14	2065	c.2060T>G	c.(2059-2061)gTg>gGg	p.V687G	CTNNA2_ENST00000343114.3_Missense_Mutation_p.V366G|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V687G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V721G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V687G|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V687G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V687G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	687					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTGAGCAGGTGGAGATATTC	0.498																																						dbGAP											0													94.0	103.0	100.0					2																	80816481		2194	4298	6492	-	-	-	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2060T>G	2.37:g.80816481T>G	ENSP00000384638:p.Val687Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.V721G	ENST00000402739.4	37	c.2162		2	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727058	0.89390	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	L	0.53561	1.675	0.80722	D	1	B;D;D;D	0.63046	0.09;0.992;0.973;0.987	B;P;P;P	0.62740	0.124;0.906;0.848;0.886	T	0.54879	-0.8227	9	.	.	.	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	319;687;687;687	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	G	687;687;721;687;687;687;366	ENSP00000418191:V687G;ENSP00000419295:V687G;ENSP00000355398:V721G;ENSP00000384638:V687G;ENSP00000444675:V687G;ENSP00000441705:V687G;ENSP00000341500:V366G	.	V	+	2	0	CTNNA2	80669992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.846000	0.86887	2.288000	0.76882	0.533000	0.62120	GTG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	126	0.00	0	T	NM_004389		80816481	80816481	+1	no_errors	ENST00000361291	ensembl	human	known	69_37n	missense	79	23.30	24	SNP	1.000	G
CTNNA3	29119	genome.wustl.edu	37	10	69407208	69407208	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:69407208T>G	ENST00000433211.2	-	2	238	c.64A>C	c.(64-66)Acc>Ccc	p.T22P	CTNNA3_ENST00000545309.1_Missense_Mutation_p.T22P|CTNNA3_ENST00000373744.4_Missense_Mutation_p.T22P	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCTCCACGGTGAATGTTTGG	0.388																																						dbGAP											0													144.0	137.0	139.0					10																	69407208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.64A>C	10.37:g.69407208T>G	ENSP00000389714:p.Thr22Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T22P	ENST00000433211.2	37	c.64	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044845	0.75732	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000007	T	0.59046	0.2165	L	0.38175	1.15	0.38591	D	0.95043	D;P;D	0.76494	0.999;0.93;0.997	D;P;D	0.85130	0.997;0.721;0.992	T	0.64765	-0.6330	10	0.72032	D	0.01	-20.5853	13.5013	0.61457	0.0:0.0:0.0:1.0	.	22;22;22	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	P	22	ENSP00000389714:T22P;ENSP00000362849:T22P;ENSP00000441444:T22P;ENSP00000330570:T22P	ENSP00000330570:T22P	T	-	1	0	CTNNA3	69077214	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	4.480000	0.60243	2.171000	0.68590	0.533000	0.62120	ACC	CTNNA3	-	pfam_Vinculin/catenin,prints_Alpha_catenin	ENSG00000183230		0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	163	0.61	1	T	NM_013266		69407208	69407208	-1	no_errors	ENST00000373744	ensembl	human	known	69_37n	missense	90	24.17	29	SNP	0.994	G
CTNNBL1	56259	genome.wustl.edu	37	20	36374947	36374947	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:36374947A>C	ENST00000361383.6	+	4	521	c.404A>C	c.(403-405)cAc>cCc	p.H135P	CTNNBL1_ENST00000373473.1_5'UTR|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.H108P	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	135	Nuclear export signal (NES). {ECO:0000305}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GACCTGTACCACCTTCTGGTG	0.502																																					Ovarian(184;582 2038 3273 4106 42608)	dbGAP											0													135.0	124.0	127.0					20																	36374947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.404A>C	20.37:g.36374947A>C	ENSP00000355050:p.His135Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.H108P	ENST00000361383.6	37	c.323	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	A	7.786	0.710550	0.15239	.	.	ENSG00000132792	ENST00000361383;ENST00000447935;ENST00000405275	T;T;T	0.47869	0.83;0.85;0.83	5.15	5.15	0.70609	Armadillo-type fold (1);Domain of unknown function DUF1716, eukaryotic (1);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	N	0.01003	-1.06	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.004;0.005	T	0.26849	-1.0091	10	0.02654	T	1	-20.4863	14.3052	0.66380	1.0:0.0:0.0:0.0	.	135;108	Q8WYA6;A2A2P1	CTBL1_HUMAN;.	P	135;108;108	ENSP00000355050:H135P;ENSP00000394464:H108P;ENSP00000384355:H108P	ENSP00000355050:H135P	H	+	2	0	CTNNBL1	35808361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.060000	0.76692	2.165000	0.68154	0.482000	0.46254	CAC	CTNNBL1	-	pfam_DUF1716_euk,superfamily_ARM-type_fold	ENSG00000132792		0.502	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	166	0.00	0	A	NM_030877		36374947	36374947	+1	no_errors	ENST00000405275	ensembl	human	known	69_37n	missense	162	14.29	27	SNP	1.000	C
CTNND1	1500	genome.wustl.edu	37	11	57569489	57569489	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:57569489T>G	ENST00000399050.4	+	7	1777	c.1241T>G	c.(1240-1242)gTg>gGg	p.V414G	CTNND1_ENST00000415361.2_Missense_Mutation_p.V313G|CTNND1_ENST00000399039.4_Missense_Mutation_p.V414G|CTNND1_ENST00000428599.2_Missense_Mutation_p.V414G|CTNND1_ENST00000532649.1_Missense_Mutation_p.V360G|CTNND1_ENST00000358694.6_Missense_Mutation_p.V414G|CTNND1_ENST00000533667.1_Missense_Mutation_p.V91G|CTNND1_ENST00000529919.1_Missense_Mutation_p.V414G|CTNND1_ENST00000531014.1_Missense_Mutation_p.V91G|CTNND1_ENST00000532245.1_Missense_Mutation_p.V313G|CTNND1_ENST00000426142.2_Missense_Mutation_p.V313G|CTNND1_ENST00000527467.1_Missense_Mutation_p.V91G|CTNND1_ENST00000529526.1_Missense_Mutation_p.V360G|CTNND1_ENST00000361391.6_Missense_Mutation_p.V414G|CTNND1_ENST00000530748.1_Missense_Mutation_p.V360G|CTNND1_ENST00000526772.1_Missense_Mutation_p.V91G|CTNND1_ENST00000525902.1_Missense_Mutation_p.V91G|CTNND1_ENST00000528621.1_Missense_Mutation_p.V360G|CTNND1_ENST00000361332.4_Missense_Mutation_p.V414G|CTNND1_ENST00000532787.1_Missense_Mutation_p.V313G|CTNND1_ENST00000529873.1_Missense_Mutation_p.V360G|CTNND1_ENST00000534579.1_Missense_Mutation_p.V360G|CTNND1_ENST00000360682.6_Missense_Mutation_p.V414G|CTNND1_ENST00000530094.1_Missense_Mutation_p.V313G|CTNND1_ENST00000532844.1_Missense_Mutation_p.V360G|CTNND1_ENST00000528232.1_Missense_Mutation_p.V313G|CTNND1_ENST00000532463.1_Missense_Mutation_p.V313G|CTNND1_ENST00000526938.1_Missense_Mutation_p.V414G|CTNND1_ENST00000526357.1_Missense_Mutation_p.V360G|CTNND1_ENST00000529986.1_Missense_Mutation_p.V313G|CTNND1_ENST00000524630.1_Missense_Mutation_p.V414G|CTNND1_ENST00000361796.4_Missense_Mutation_p.V414G	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	414					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.V414A(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCAGTACTGGTGGGATTGTTA	0.493																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											144.0	145.0	145.0					11																	57569489		1977	4171	6148	-	-	-	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1241T>G	11.37:g.57569489T>G	ENSP00000382004:p.Val414Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V414G	ENST00000399050.4	37	c.1241	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461157	0.84317	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.059102	0.64402	D	0.000002	D	0.87593	0.6216	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.80764	0.984;0.961;0.977;0.961;0.961;0.961;0.994;0.984;0.99	D	0.89901	0.4044	10	0.87932	D	0	-7.6135	15.1859	0.73002	0.0:0.0:0.0:1.0	.	414;414;414;313;360;360;414;414;414	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	G	414;414;414;91;414;414;360;313;414;414;414;313;313;414;313;91;360;360;360;414;91;313;91;91;360;91;360;360;313;313;313;360;414	ENSP00000436543:V414G;ENSP00000434808:V414G;ENSP00000381996:V414G;ENSP00000435242:V91G;ENSP00000353902:V414G;ENSP00000354907:V414G;ENSP00000436323:V360G;ENSP00000409930:V313G;ENSP00000382004:V414G;ENSP00000354785:V414G;ENSP00000354823:V414G;ENSP00000432075:V313G;ENSP00000437156:V313G;ENSP00000351527:V414G;ENSP00000434949:V313G;ENSP00000437051:V91G;ENSP00000435379:V360G;ENSP00000432243:V360G;ENSP00000436744:V360G;ENSP00000413586:V414G;ENSP00000434900:V91G;ENSP00000435266:V313G;ENSP00000432623:V91G;ENSP00000433158:V91G;ENSP00000435494:V360G;ENSP00000434672:V91G;ENSP00000433276:V360G;ENSP00000433334:V360G;ENSP00000437327:V313G;ENSP00000403518:V313G;ENSP00000434017:V313G;ENSP00000435789:V360G;ENSP00000432041:V414G	ENSP00000351527:V414G	V	+	2	0	CTNND1	57326065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.116000	0.64780	0.455000	0.32223	GTG	CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000198561		0.493	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	277	0.00	0	T	NM_001331		57569489	57569489	+1	no_errors	ENST00000399050	ensembl	human	known	69_37n	missense	221	10.48	26	SNP	1.000	G
CTSC	1075	genome.wustl.edu	37	11	88045668	88045668	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:88045668A>C	ENST00000227266.5	-	3	487	c.373T>G	c.(373-375)Tgg>Ggg	p.W125G		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	125					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCATGCACCCACCCAGTCATT	0.448																																						dbGAP											0													230.0	219.0	223.0					11																	88045668		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.373T>G	11.37:g.88045668A>C	ENSP00000227266:p.Trp125Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.W125G	ENST00000227266.5	37	c.373	CCDS8282.1	11	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300966	0.81136	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.94576	-3.46	5.97	5.97	0.96955	Cathepsin C exclusion (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98832	1.0751	9	.	.	.	.	15.4434	0.75208	1.0:0.0:0.0:0.0	.	125	P53634	CATC_HUMAN	G	108;125	ENSP00000227266:W125G	.	W	-	1	0	CTSC	87685316	1.000000	0.71417	0.986000	0.45419	0.902000	0.53008	7.898000	0.87363	2.288000	0.76882	0.533000	0.62120	TGG	CTSC	-	pfam_CathepsinC_exc	ENSG00000109861		0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSC	HGNC	protein_coding	OTTHUMT00000394019.2	339	0.29	1	A	NM_001814		88045668	88045668	-1	no_errors	ENST00000227266	ensembl	human	known	69_37n	missense	243	14.44	41	SNP	0.998	C
CUL7	9820	genome.wustl.edu	37	6	43013138	43013138	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43013138A>C	ENST00000265348.3	-	15	2950	c.2865T>G	c.(2863-2865)ggT>ggG	p.G955G	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Silent_p.G1039G			Q14999	CUL7_HUMAN	cullin 7	955	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCAATGCCACCCTGAAACA	0.602																																						dbGAP											0													194.0	170.0	178.0					6																	43013138		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2865T>G	6.37:g.43013138A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G1039	ENST00000265348.3	37	c.3117	CCDS4881.1	6																																																																																			CUL7	-	pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like	ENSG00000044090		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	211	0.47	1	A	NM_014780		43013138	43013138	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	silent	152	16.39	30	SNP	0.762	C
CUL9	23113	genome.wustl.edu	37	6	43163849	43163849	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43163849A>C	ENST00000252050.4	+	10	2515	c.2431A>C	c.(2431-2433)Act>Cct	p.T811P	CUL9_ENST00000354495.3_Missense_Mutation_p.T701P|CUL9_ENST00000372647.2_Missense_Mutation_p.T811P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	811					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAGATCCCCACTTTTGTTAC	0.562																																						dbGAP											0													94.0	96.0	95.0					6																	43163849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2431A>C	6.37:g.43163849A>C	ENSP00000252050:p.Thr811Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.T811P	ENST00000252050.4	37	c.2431	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240083	0.39598	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73363	-0.73;-0.74;-0.63	5.19	-2.2	0.06994	Armadillo-type fold (1);	0.850091	0.10652	N	0.649763	T	0.23451	0.0567	N	0.08118	0	0.22342	N	0.999183	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12915	-1.0529	10	0.33141	T	0.24	-0.4444	1.6656	0.02801	0.376:0.1466:0.3354:0.142	.	811;811	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	P	811;701;811	ENSP00000252050:T811P;ENSP00000346490:T701P;ENSP00000361730:T811P	ENSP00000252050:T811P	T	+	1	0	CUL9	43271827	0.003000	0.15002	0.607000	0.28956	0.935000	0.57460	0.454000	0.21827	-0.262000	0.09392	-0.433000	0.05886	ACT	CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.562	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	172	0.00	0	A	NM_015089		43163849	43163849	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	195	15.15	35	SNP	0.193	C
CUX2	23316	genome.wustl.edu	37	12	111785437	111785437	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:111785437A>C	ENST00000261726.6	+	22	3923	c.3769A>C	c.(3769-3771)Acc>Ccc	p.T1257P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1257					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCAGACCCCACCCCGCAGAG	0.642																																						dbGAP											0													44.0	52.0	50.0					12																	111785437		1915	4113	6028	-	-	-	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3769A>C	12.37:g.111785437A>C	ENSP00000261726:p.Thr1257Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.T1257P	ENST00000261726.6	37	c.3769	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	A	8.456	0.854154	0.17106	.	.	ENSG00000111249	ENST00000261726	T	0.45668	0.89	5.78	3.47	0.39725	.	0.355334	0.32147	N	0.006504	T	0.29783	0.0744	L	0.29908	0.895	0.09310	N	1	P	0.44195	0.828	B	0.42062	0.374	T	0.10132	-1.0643	10	0.49607	T	0.09	-18.6181	7.0138	0.24877	0.7483:0.0:0.2517:0.0	.	1257	O14529	CUX2_HUMAN	P	1257	ENSP00000261726:T1257P	ENSP00000261726:T1257P	T	+	1	0	CUX2	110269820	0.022000	0.18835	0.221000	0.23827	0.153000	0.21895	1.961000	0.40432	0.479000	0.27511	0.528000	0.53228	ACC	CUX2	-	NULL	ENSG00000111249		0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	31	0.00	0	A	NM_015267		111785437	111785437	+1	no_errors	ENST00000261726	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.086	C
CUX2	23316	genome.wustl.edu	37	12	111785940	111785940	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:111785940A>C	ENST00000261726.6	+	22	4426	c.4272A>C	c.(4270-4272)ccA>ccC	p.P1424P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1424	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCCATCCCCACCTGGCGCCC	0.657																																						dbGAP											0													44.0	53.0	50.0					12																	111785940		2061	4182	6243	-	-	-	SO:0001819	synonymous_variant	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4272A>C	12.37:g.111785940A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.P1424	ENST00000261726.6	37	c.4272	CCDS41837.1	12																																																																																			CUX2	-	NULL	ENSG00000111249		0.657	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	64	0.00	0	A	NM_015267		111785940	111785940	+1	no_errors	ENST00000261726	ensembl	human	known	69_37n	silent	59	19.18	14	SNP	0.964	C
KDM4D	55693	genome.wustl.edu	37	11	94705287	94705287	+	5'Flank	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:94705287A>C	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Silent_p.G21G|CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCTCAAATCACCTTCTCCTT	0.378																																						dbGAP											0													154.0	157.0	156.0					11																	94705287		1866	4098	5964	-	-	-	SO:0001631	upstream_gene_variant	0			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94705287A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPC4|Q0VF39|Q9NT41|Q9NW76	RNA	SNP	-	NULL	ENST00000335080.5	37	NULL	CCDS8302.1	11																																																																																			CWC15	-	-	ENSG00000150316		0.378	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC15	HGNC	protein_coding	OTTHUMT00000396558.2	136	0.00	0	A	NM_018039		94705287	94705287	-1	no_errors	ENST00000279839	ensembl	human	known	69_37n	rna	107	25.17	36	SNP	0.841	C
KDM4D	55693	genome.wustl.edu	37	11	94705308	94705308	+	5'Flank	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:94705308A>C	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Silent_p.G14G|CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCCCCTTCCACCTCTGGCAG	0.388																																						dbGAP											0													125.0	127.0	126.0					11																	94705308		1855	4087	5942	-	-	-	SO:0001631	upstream_gene_variant	0			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94705308A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPC4|Q0VF39|Q9NT41|Q9NW76	RNA	SNP	-	NULL	ENST00000335080.5	37	NULL	CCDS8302.1	11																																																																																			CWC15	-	-	ENSG00000150316		0.388	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC15	HGNC	protein_coding	OTTHUMT00000396558.2	128	0.00	0	A	NM_018039		94705308	94705308	-1	no_errors	ENST00000279839	ensembl	human	known	69_37n	rna	96	25.95	34	SNP	0.992	C
CWH43	80157	genome.wustl.edu	37	4	49032933	49032933	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:49032933T>G	ENST00000226432.4	+	11	1647	c.1464T>G	c.(1462-1464)ggT>ggG	p.G488G	CWH43_ENST00000513409.1_Silent_p.G461G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	488					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAAAGTTGGGTTTCTATACAG	0.438																																						dbGAP											0													162.0	161.0	161.0					4																	49032933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1464T>G	4.37:g.49032933T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPD7	Silent	SNP	superfamily_Endo/exonuclease/phosphatase	p.G488	ENST00000226432.4	37	c.1464	CCDS3486.1	4																																																																																			CWH43	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000109182		0.438	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	244	0.41	1	T	NM_025087		49032933	49032933	+1	no_errors	ENST00000226432	ensembl	human	known	69_37n	silent	189	14.09	31	SNP	0.975	G
CXCL6	6372	genome.wustl.edu	37	4	74702804	74702804	+	Missense_Mutation	SNP	T	T	G	rs201941881		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:74702804T>G	ENST00000226317.5	+	2	487	c.233T>G	c.(232-234)gTg>gGg	p.V78G	CXCL6_ENST00000515050.1_Missense_Mutation_p.V78G	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	78					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTCCAAGGTGGAAGTGGTG	0.542																																						dbGAP											0													105.0	137.0	126.0					4																	74702804		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.233T>G	4.37:g.74702804T>G	ENSP00000226317:p.Val78Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4X3|Q4W5D4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.V78G	ENST00000226317.5	37	c.233	CCDS3560.1	4	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359037	0.41801	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.04706	3.57;3.57	3.86	1.2	0.21068	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.572868	0.18087	N	0.152107	T	0.17959	0.0431	M	0.91818	3.245	0.44417	D	0.997333	D	0.69078	0.997	P	0.62435	0.902	T	0.01516	-1.1335	10	0.87932	D	0	.	2.7825	0.05365	0.2216:0.1229:0.0:0.6555	.	78	P80162	CXCL6_HUMAN	G	78	ENSP00000226317:V78G;ENSP00000424819:V78G	ENSP00000226317:V78G	V	+	2	0	CXCL6	74921668	0.757000	0.28394	0.982000	0.44146	0.445000	0.32107	0.456000	0.21859	0.659000	0.30945	0.477000	0.44152	GTG	CXCL6	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	ENSG00000124875		0.542	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXCL6	HGNC	protein_coding	OTTHUMT00000252283.2	119	0.83	1	T	NM_002993		74702804	74702804	+1	no_errors	ENST00000226317	ensembl	human	known	69_37n	missense	83	16.00	16	SNP	0.815	G
CXCR5	643	genome.wustl.edu	37	11	118765361	118765361	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118765361A>C	ENST00000292174.4	+	2	1284	c.1108A>C	c.(1108-1110)Acc>Ccc	p.T370P	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	370					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CACCTCTCTCACCACGTTCTA	0.592																																						dbGAP											0													32.0	31.0	32.0					11																	118765361		2200	4295	6495	-	-	-	SO:0001583	missense	0			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.1108A>C	11.37:g.118765361A>C	ENSP00000292174:p.Thr370Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14811	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR5,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt	p.T370P	ENST00000292174.4	37	c.1108	CCDS8402.1	11	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457366	0.43634	.	.	ENSG00000160683	ENST00000292174	T	0.69306	-0.39	3.97	2.81	0.32909	.	0.291378	0.23840	U	0.044059	T	0.48822	0.1521	N	0.19112	0.55	0.80722	D	1	D	0.56968	0.978	B	0.42738	0.396	T	0.49312	-0.8953	10	0.87932	D	0	.	7.4822	0.27411	0.4846:0.0:0.0:0.5153	.	370	P32302	CXCR5_HUMAN	P	370	ENSP00000292174:T370P	ENSP00000292174:T370P	T	+	1	0	CXCR5	118270571	1.000000	0.71417	0.991000	0.47740	0.788000	0.44548	2.768000	0.47645	0.551000	0.29008	0.379000	0.24179	ACC	CXCR5	-	prints_Chemokine_CXCR5	ENSG00000160683		0.592	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR5	HGNC	protein_coding	OTTHUMT00000389309.1	32	0.00	0	A	NM_001716		118765361	118765361	+1	no_errors	ENST00000292174	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	0.996	C
ACKR3	57007	genome.wustl.edu	37	2	237489964	237489964	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:237489964A>C	ENST00000272928.3	+	2	1166	c.856A>C	c.(856-858)Acc>Ccc	p.T286P		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	286					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CATCCCTTTCACCTGCCGGCT	0.587																																						dbGAP											0													162.0	137.0	146.0					2																	237489964		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.856A>C	2.37:g.237489964A>C	ENSP00000272928:p.Thr286Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.T286P	ENST00000272928.3	37	c.856	CCDS2516.1	2	.	.	.	.	.	.	.	.	.	.	A	15.22	2.770179	0.49680	.	.	ENSG00000144476	ENST00000272928	T	0.71817	-0.6	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.211412	0.47455	D	0.000239	T	0.64951	0.2645	L	0.38692	1.165	0.40416	D	0.979796	P	0.42203	0.773	B	0.42827	0.399	T	0.65055	-0.6261	9	.	.	.	.	15.4636	0.75381	1.0:0.0:0.0:0.0	.	286	P25106	CXCR7_HUMAN	P	286	ENSP00000272928:T286P	.	T	+	1	0	CXCR7	237154703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.052000	0.61016	0.533000	0.62120	ACC	CXCR7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000144476		0.587	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	117	0.84	1	A	NM_020311		237489964	237489964	+1	no_errors	ENST00000272928	ensembl	human	known	69_37n	missense	77	21.21	21	SNP	1.000	C
CXorf21	80231	genome.wustl.edu	37	X	30578393	30578393	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:30578393A>C	ENST00000378962.3	-	3	402	c.80T>G	c.(79-81)gTg>gGg	p.V27G		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	27										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCCCCAGCCACCTGCTCATT	0.453																																						dbGAP											0													77.0	65.0	69.0					X																	30578393		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.80T>G	X.37:g.30578393A>C	ENSP00000368245:p.Val27Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V27G	ENST00000378962.3	37	c.80	CCDS14224.1	X	.	.	.	.	.	.	.	.	.	.	A	7.428	0.638126	0.14386	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.25	4.05	0.47172	.	0.396081	0.21246	N	0.077725	T	0.32164	0.0820	L	0.60455	1.87	0.23366	N	0.997824	B	0.06786	0.001	B	0.06405	0.002	T	0.38650	-0.9651	9	0.42905	T	0.14	-2.4725	0.2961	0.00266	0.4056:0.1561:0.1646:0.2737	.	27	Q9HAI6	CX021_HUMAN	G	27	.	ENSP00000368245:V27G	V	-	2	0	CXorf21	30488314	0.000000	0.05858	0.975000	0.42487	0.309000	0.27889	0.636000	0.24644	0.762000	0.33152	0.441000	0.28932	GTG	CXorf21	-	NULL	ENSG00000120280		0.453	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf21	HGNC	protein_coding	OTTHUMT00000056164.1	148	0.00	0	A	NM_025159		30578393	30578393	-1	no_errors	ENST00000378962	ensembl	human	known	69_37n	missense	130	14.94	23	SNP	0.065	C
CYFIP2	26999	genome.wustl.edu	37	5	156723682	156723682	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:156723682T>G	ENST00000347377.6	+	5	718	c.287T>G	c.(286-288)gTg>gGg	p.V96G	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000318218.6_Splice_Site_p.V96G|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V96G|CYFIP2_ENST00000521420.1_Splice_Site_p.V70G	NM_001037332.2	NP_001032409.2			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCACAGGTGAAATGCAAC	0.453																																						dbGAP											0													109.0	108.0	108.0					5																	156723682		1953	4143	6096	-	-	-	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000347377.6:c.287T>G	5.37:g.156723682T>G	ENSP00000313567:p.Val96Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V96G	ENST00000347377.6	37	c.287		5	.	.	.	.	.	.	.	.	.	.	T	10.92	1.488098	0.26686	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.75777	2.31	0.80722	D	1	B;P;B;P	0.44006	0.013;0.747;0.021;0.824	B;B;B;B	0.39706	0.014;0.283;0.045;0.307	T	0.52931	-0.8509	10	0.51188	T	0.08	-18.3045	14.1671	0.65486	0.0:0.0:0.0:1.0	.	70;96;96;96	E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;CYFP2_HUMAN	G	96;70;96;96	ENSP00000325817:V96G;ENSP00000430904:V70G;ENSP00000313567:V96G;ENSP00000366799:V96G	ENSP00000325817:V96G	V	+	2	0	CYFIP2	156656260	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	7.884000	0.87274	1.751000	0.51876	0.460000	0.39030	GTG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.453	CYFIP2-202	KNOWN	basic|appris_principal	protein_coding	CYFIP2	HGNC	protein_coding		255	0.39	1	T	NM_001037332		156723682	156723682	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	missense	247	11.39	32	SNP	1.000	G
CYFIP2	26999	genome.wustl.edu	37	5	156741353	156741353	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:156741353T>G	ENST00000521420.1	+	11	1125	c.1034T>G	c.(1033-1035)gTg>gGg	p.V345G	CYFIP2_ENST00000522463.1_Splice_Site_p.V175G|CYFIP2_ENST00000435847.2_Splice_Site_p.V45G|CYFIP2_ENST00000541131.1_Splice_Site_p.V296G|CYFIP2_ENST00000318218.6_Splice_Site_p.V371G|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Splice_Site_p.V371G|CYFIP2_ENST00000347377.6_Splice_Site_p.V371G					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCCCAGGTGGTGACGGGC	0.532																																						dbGAP											0													71.0	75.0	74.0					5																	156741353		2035	4197	6232	-	-	-	SO:0001630	splice_region_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1033-1T>G	5.37:g.156741353T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V371G	ENST00000521420.1	37	c.1112		5	.	.	.	.	.	.	.	.	.	.	T	26.5	4.739113	0.89573	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.26067	2.13;2.1;2.09;2.1;2.1;2.1;1.76	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	L	0.47716	1.5	0.80722	D	1	P;P;D;D;P;P	0.76494	0.952;0.902;0.973;0.999;0.696;0.932	P;P;P;D;B;P	0.63488	0.78;0.564;0.654;0.915;0.283;0.693	T	0.07947	-1.0746	10	0.27785	T	0.31	-30.6213	16.0209	0.80493	0.0:0.0:0.0:1.0	.	235;175;345;371;371;371	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	G	371;175;345;371;371;296;45	ENSP00000325817:V371G;ENSP00000428009:V175G;ENSP00000430904:V345G;ENSP00000313567:V371G;ENSP00000366799:V371G;ENSP00000444645:V296G;ENSP00000403793:V45G	ENSP00000325817:V371G	V	+	2	0	CYFIP2	156673931	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.948000	0.87774	2.186000	0.69663	0.459000	0.35465	GTG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.532	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	102	0.97	1	T	NM_001037332	Missense_Mutation	156741353	156741353	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	missense	103	15.45	19	SNP	1.000	G
CYLC2	1539	genome.wustl.edu	37	9	105767465	105767465	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:105767465T>G	ENST00000374798.3	+	5	622	c.552T>G	c.(550-552)ggT>ggG	p.G184G	CYLC2_ENST00000487798.1_Silent_p.G184G	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	184	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.		G -> D (in dbSNP:rs10990424).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aaaaaggaggtgcaaagaaag	0.368																																						dbGAP											0													77.0	75.0	76.0					9																	105767465		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.552T>G	9.37:g.105767465T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8F4|Q5VVJ9	Silent	SNP	NULL	p.G184	ENST00000374798.3	37	c.552	CCDS35085.1	9																																																																																			CYLC2	-	NULL	ENSG00000155833		0.368	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	411	0.00	0	T	NM_001340		105767465	105767465	+1	no_errors	ENST00000374798	ensembl	human	putative	69_37n	silent	287	16.52	57	SNP	0.000	G
CYLC2	1539	genome.wustl.edu	37	9	105767537	105767537	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:105767537T>G	ENST00000374798.3	+	5	694	c.624T>G	c.(622-624)ggT>ggG	p.G208G	CYLC2_ENST00000487798.1_Silent_p.G208G	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	208	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.		G -> D (in dbSNP:rs2298051).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AATCTGAAGGTGAAAAAGGAG	0.358																																						dbGAP											0													80.0	77.0	78.0					9																	105767537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.624T>G	9.37:g.105767537T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8F4|Q5VVJ9	Silent	SNP	NULL	p.G208	ENST00000374798.3	37	c.624	CCDS35085.1	9																																																																																			CYLC2	-	NULL	ENSG00000155833		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	503	0.59	3	T	NM_001340		105767537	105767537	+1	no_errors	ENST00000374798	ensembl	human	putative	69_37n	silent	389	17.20	81	SNP	0.005	G
CYP1A2	1544	genome.wustl.edu	37	15	75042205	75042205	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:75042205A>C	ENST00000343932.4	+	2	189	c.126A>C	c.(124-126)ccA>ccC	p.P42P		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	42			P -> R (in allele CYP1A2*15). {ECO:0000269|PubMed:15770072}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TGAAAAGTCCACCAGAGCCAT	0.627																																						dbGAP											0													96.0	99.0	98.0					15																	75042205		2197	4296	6493	-	-	-	SO:0001819	synonymous_variant	0			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.126A>C	15.37:g.75042205A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.P42	ENST00000343932.4	37	c.126	CCDS32293.1	15																																																																																			CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000140505		0.627	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	198	0.00	0	A	NM_000761		75042205	75042205	+1	no_errors	ENST00000343932	ensembl	human	known	69_37n	silent	112	15.04	20	SNP	0.010	C
CYP1A2	1544	genome.wustl.edu	37	15	75042264	75042264	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:75042264A>C	ENST00000343932.4	+	2	248	c.185A>C	c.(184-186)cAc>cCc	p.H62P		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	62					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AAGAACCCGCACCTGGCACTG	0.652																																						dbGAP											0													65.0	64.0	64.0					15																	75042264		2197	4296	6493	-	-	-	SO:0001583	missense	0			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.185A>C	15.37:g.75042264A>C	ENSP00000342007:p.His62Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.H62P	ENST00000343932.4	37	c.185	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207537	0.79240	.	.	ENSG00000140505	ENST00000343932	T	0.70749	-0.51	5.11	5.11	0.69529	.	0.048152	0.85682	D	0.000000	D	0.86201	0.5876	M	0.88310	2.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89052	0.3456	10	0.87932	D	0	.	15.0627	0.71967	1.0:0.0:0.0:0.0	.	62	P05177-2	.	P	62	ENSP00000342007:H62P	ENSP00000342007:H62P	H	+	2	0	CYP1A2	72829317	1.000000	0.71417	0.902000	0.35471	0.815000	0.46073	8.722000	0.91452	2.140000	0.66376	0.533000	0.62120	CAC	CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140505		0.652	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	149	0.00	0	A	NM_000761		75042264	75042264	+1	no_errors	ENST00000343932	ensembl	human	known	69_37n	missense	84	22.94	25	SNP	1.000	C
CYP2B6	1555	genome.wustl.edu	37	19	41515277	41515277	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:41515277A>C	ENST00000324071.4	+	5	806	c.799A>C	c.(799-801)Acc>Ccc	p.T267P	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	267					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCTCATCGACACCTACCTGCT	0.547																																						dbGAP											0													51.0	58.0	55.0					19																	41515277		2172	4273	6445	-	-	-	SO:0001583	missense	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.799A>C	19.37:g.41515277A>C	ENSP00000324648:p.Thr267Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.T267P	ENST00000324071.4	37	c.799	CCDS12570.1	19	.	.	.	.	.	.	.	.	.	.	.	11.36	1.616859	0.28801	.	.	ENSG00000197408	ENST00000324071	T	0.68903	-0.36	4.45	-6.16	0.02098	.	0.594745	0.17189	N	0.183566	T	0.58935	0.2157	M	0.72353	2.195	0.09310	N	1	P	0.35821	0.523	B	0.40329	0.326	T	0.56523	-0.7965	10	0.72032	D	0.01	.	5.5319	0.16989	0.2043:0.0:0.2417:0.554	.	267	P20813	CP2B6_HUMAN	P	267	ENSP00000324648:T267P	ENSP00000324648:T267P	T	+	1	0	CYP2B6	46207117	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.441000	0.02409	-1.353000	0.02191	-0.464000	0.05259	ACC	CYP2B6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197408		0.547	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	413	0.72	3	A	NM_000767		41515277	41515277	+1	no_errors	ENST00000324071	ensembl	human	known	69_37n	missense	460	12.67	67	SNP	0.000	C
CYP2A13	1553	genome.wustl.edu	37	19	41594488	41594488	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:41594488A>C	ENST00000330436.3	+	1	112	c.112A>C	c.(112-114)Acc>Ccc	p.T38P		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	38					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TCCGGGACCCACCCCATTGCC	0.587																																						dbGAP											0													88.0	79.0	82.0					19																	41594488		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.112A>C	19.37:g.41594488A>C	ENSP00000332679:p.Thr38Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.T38P	ENST00000330436.3	37	c.112	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	10.05	1.245189	0.22796	.	.	ENSG00000197838	ENST00000330436	T	0.01215	5.16	3.33	3.33	0.38152	.	0.545185	0.17026	U	0.189924	T	0.01092	0.0036	N	0.16368	0.405	0.20563	N	0.999883	P	0.35600	0.511	B	0.36666	0.23	T	0.52442	-0.8575	10	0.72032	D	0.01	.	10.0281	0.42083	1.0:0.0:0.0:0.0	.	38	Q16696	CP2AD_HUMAN	P	38	ENSP00000332679:T38P	ENSP00000332679:T38P	T	+	1	0	CYP2A13	46286328	0.000000	0.05858	0.419000	0.26584	0.565000	0.35776	0.272000	0.18644	1.522000	0.49001	0.365000	0.22127	ACC	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	174	0.00	0	A	NM_000766		41594488	41594488	+1	no_errors	ENST00000330436	ensembl	human	known	69_37n	missense	137	14.91	24	SNP	0.721	C
CYP2C18	1562	genome.wustl.edu	37	10	96495237	96495237	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:96495237A>C	ENST00000285979.6	+	0	1708				CYP2C18_ENST00000339022.5_3'UTR|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CTGTGCTGTCACCTGCAATTC	0.507																																						dbGAP											0													122.0	111.0	115.0					10																	96495237		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.*36A>C	10.37:g.96495237A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	RNA	SNP	-	NULL	ENST00000285979.6	37	NULL	CCDS7435.1	10																																																																																			CYP2C18	-	-	ENSG00000108242		0.507	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	209	0.47	1	A	NM_000772		96495237	96495237	+1	no_errors	ENST00000476630	ensembl	human	known	69_37n	rna	199	20.72	52	SNP	0.000	C
CYP2C19	1557	genome.wustl.edu	37	10	96540402	96540402	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:96540402A>C	ENST00000371321.3	+	4	710	c.628A>C	c.(628-630)Acc>Ccc	p.T210P	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	210					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GATTGTAAGCACCCCCTGGAT	0.373																																						dbGAP											0													87.0	88.0	88.0					10																	96540402		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.628A>C	10.37:g.96540402A>C	ENSP00000360372:p.Thr210Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.T210P	ENST00000371321.3	37	c.628	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	A	8.935	0.964391	0.18583	.	.	ENSG00000165841	ENST00000371321	T	0.69435	-0.4	4.25	-1.92	0.07618	.	0.379427	0.22651	U	0.057336	T	0.47691	0.1459	L	0.28115	0.83	0.09310	N	1	B	0.29232	0.238	B	0.27608	0.081	T	0.35871	-0.9771	10	0.87932	D	0	.	9.3849	0.38336	0.5665:0.0:0.0:0.4335	.	210	P33261	CP2CJ_HUMAN	P	210	ENSP00000360372:T210P	ENSP00000360372:T210P	T	+	1	0	CYP2C19	96530392	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.422000	0.21296	-0.784000	0.04528	-0.780000	0.03373	ACC	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000165841		0.373	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	349	0.85	3	A	NM_000769		96540402	96540402	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	missense	260	10.65	31	SNP	0.001	C
CYP2F1	1572	genome.wustl.edu	37	19	41622394	41622394	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:41622394A>C	ENST00000331105.2	+	3	278	c.206A>C	c.(205-207)cAc>cCc	p.H69P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	69					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACACAGTGCACCTGGGACCC	0.612																																						dbGAP											0													125.0	121.0	122.0					19																	41622394		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.206A>C	19.37:g.41622394A>C	ENSP00000333534:p.His69Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.H69P	ENST00000331105.2	37	c.206	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276931	0.23307	.	.	ENSG00000197446	ENST00000331105	T	0.12255	2.7	3.91	3.91	0.45181	.	0.470848	0.21050	U	0.081002	T	0.24890	0.0604	L	0.47016	1.485	0.09310	N	1	D;D	0.64830	0.994;0.98	P;P	0.58970	0.849;0.778	T	0.02411	-1.1163	10	0.87932	D	0	.	11.9163	0.52767	1.0:0.0:0.0:0.0	.	69;69	Q32MN5;P24903	.;CP2F1_HUMAN	P	69	ENSP00000333534:H69P	ENSP00000333534:H69P	H	+	2	0	CYP2F1	46314234	0.000000	0.05858	0.507000	0.27676	0.034000	0.12701	0.598000	0.24074	1.641000	0.50575	0.445000	0.29226	CAC	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000197446		0.612	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	204	0.48	1	A			41622394	41622394	+1	no_errors	ENST00000331105	ensembl	human	known	69_37n	missense	299	13.39	47	SNP	0.052	C
CYP3A4	1576	genome.wustl.edu	37	7	99359742	99359742	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99359742A>C	ENST00000336411.2	-	11	1358	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G	CYP3A4_ENST00000354593.2_Missense_Mutation_p.V242G	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	392				V -> W (in Ref. 1; BAA00001/AAA35742, 3; AAA35744, 4; CAA30944 and 5; AAA35747). {ECO:0000305}.	alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CATCACCACCACCCCTTTGGG	0.483																																						dbGAP											0													256.0	226.0	236.0					7																	99359742		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1175T>G	7.37:g.99359742A>C	ENSP00000337915:p.Val392Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P05184|Q16757|Q9UK50	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V392G	ENST00000336411.2	37	c.1175	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	A	9.533	1.111300	0.20714	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.68765	-0.35;-0.35	4.35	1.46	0.22682	.	0.502393	0.22373	N	0.060905	T	0.74374	0.3708	M	0.66506	2.035	0.09310	N	1	P;P;P;P;P	0.45240	0.824;0.541;0.854;0.854;0.854	D;P;D;D;D	0.63192	0.91;0.873;0.912;0.912;0.912	T	0.63488	-0.6626	10	0.87932	D	0	.	6.1958	0.20550	0.4247:0.0:0.5753:0.0	.	242;319;392;392;392	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	G	242;392	ENSP00000346607:V242G;ENSP00000337915:V392G	ENSP00000337915:V392G	V	-	2	0	CYP3A4	99197678	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.481000	0.22260	0.267000	0.21916	-0.379000	0.06801	GTG	CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_B	ENSG00000160868		0.483	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	169	0.58	1	A			99359742	99359742	-1	no_errors	ENST00000336411	ensembl	human	known	69_37n	missense	113	20.28	29	SNP	0.000	C
CYP3A7	1551	genome.wustl.edu	37	7	99308410	99308410	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99308410T>G	ENST00000336374.2	-	10	973	c.971A>C	c.(970-972)cAc>cCc	p.H324P	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GACATCAGGGTGAGTGGCCAG	0.443																																						dbGAP											0													93.0	80.0	84.0					7																	99308410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.971A>C	7.37:g.99308410T>G	ENSP00000337450:p.His324Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.H324P	ENST00000336374.2	37	c.971	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	t	14.50	2.553721	0.45487	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.72282	-0.64	3.99	3.99	0.46301	.	0.092127	0.64402	D	0.000001	D	0.88713	0.6511	H	0.97896	4.1	0.44843	D	0.997852	D	0.60575	0.988	D	0.74348	0.983	D	0.91311	0.5074	10	0.87932	D	0	.	11.0971	0.48152	0.0:0.0:0.0:1.0	.	324	P24462	CP3A7_HUMAN	P	324	ENSP00000337450:H324P	ENSP00000292414:H324P	H	-	2	0	CYP3A7	99146346	1.000000	0.71417	0.584000	0.28653	0.231000	0.25187	5.984000	0.70548	1.553000	0.49476	0.374000	0.22700	CAC	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000160870		0.443	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	123	0.00	0	T			99308410	99308410	-1	no_errors	ENST00000336374	ensembl	human	known	69_37n	missense	89	20.35	23	SNP	0.993	G
CYP3A43	64816	genome.wustl.edu	37	7	99457558	99457558	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99457558A>C	ENST00000354829.2	+	10	1074	c.971A>C	c.(970-972)cAc>cCc	p.H324P	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.H324P|CYP3A43_ENST00000222382.5_Missense_Mutation_p.H324P|CYP3A43_ENST00000417625.1_Missense_Mutation_p.H214P|CYP3A43_ENST00000415413.1_Missense_Mutation_p.H113P|CYP3A43_ENST00000342499.4_Missense_Mutation_p.H184P|CYP3A43_ENST00000444905.1_Missense_Mutation_p.H71P	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	324			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CTGGCCACTCACCCTGATGTC	0.493																																						dbGAP											0													152.0	140.0	144.0					7																	99457558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.971A>C	7.37:g.99457558A>C	ENSP00000346887:p.His324Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.H324P	ENST00000354829.2	37	c.971	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321734	0.60634	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.81415	-0.64;-0.64;-0.64;-0.64;-1.49;-0.64;-0.64	2.49	2.49	0.30216	.	0.158805	0.53938	D	0.000042	D	0.91788	0.7402	H	0.97440	4.005	0.45662	D	0.998582	D;D;D;D;D	0.71674	0.994;0.998;0.985;0.983;0.992	D;D;D;D;D	0.79784	0.95;0.993;0.968;0.945;0.97	D	0.91945	0.5566	10	0.87932	D	0	.	8.7713	0.34733	1.0:0.0:0.0:0.0	.	214;184;324;324;324	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	P	324;214;184;71;113;324;324	ENSP00000346887:H324P;ENSP00000416581:H214P;ENSP00000345351:H184P;ENSP00000405557:H71P;ENSP00000401521:H113P;ENSP00000312110:H324P;ENSP00000222382:H324P	ENSP00000222382:H324P	H	+	2	0	CYP3A43	99295494	1.000000	0.71417	0.979000	0.43373	0.912000	0.54170	8.321000	0.89997	1.382000	0.46385	0.172000	0.16884	CAC	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000021461		0.493	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	203	0.00	0	A			99457558	99457558	+1	no_errors	ENST00000222382	ensembl	human	known	69_37n	missense	162	12.90	24	SNP	1.000	C
CYP4A11	1579	genome.wustl.edu	37	1	47398486	47398486	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:47398486T>G	ENST00000310638.4	-	11	1342	c.1311A>C	c.(1309-1311)gcA>gcC	p.A437A	CYP4A11_ENST00000462347.1_Silent_p.A339A|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Silent_p.A437A|CYP4A11_ENST00000371904.4_Silent_p.A438A	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	437					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAGAACCCGGTGCAAAACGGA	0.542																																						dbGAP											0													287.0	304.0	298.0					1																	47398486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1311A>C	1.37:g.47398486T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.A438	ENST00000310638.4	37	c.1314	CCDS543.1	1																																																																																			CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000187048		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	401	0.99	4	T	NM_000778		47398486	47398486	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	silent	317	14.29	53	SNP	0.997	G
CYP4A11	1579	genome.wustl.edu	37	1	47398508	47398508	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:47398508A>C	ENST00000310638.4	-	11	1320	c.1289T>G	c.(1288-1290)gTg>gGg	p.V430G	CYP4A11_ENST00000462347.1_Splice_Site_p.V332G|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Splice_Site_p.V430G|CYP4A11_ENST00000371904.4_Splice_Site_p.V431G	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	430					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGGGTCAAACACCTGCAGAGA	0.552																																						dbGAP											0													278.0	294.0	289.0					1																	47398508		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1288-1T>G	1.37:g.47398508A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.V431G	ENST00000310638.4	37	c.1292	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	N	18.63	3.665571	0.67700	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.69435	-0.4;-0.4;-0.4	5.35	5.35	0.76521	.	0.215454	0.40469	N	0.001083	T	0.77452	0.4132	M	0.74881	2.28	0.80722	D	1	P	0.36712	0.566	P	0.49853	0.624	T	0.80077	-0.1533	10	0.87932	D	0	.	15.2839	0.73814	1.0:0.0:0.0:0.0	.	430	Q02928	CP4AB_HUMAN	G	430;431;430	ENSP00000311095:V430G;ENSP00000360971:V431G;ENSP00000360972:V430G	ENSP00000311095:V430G	V	-	2	0	CYP4A11	47171095	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.023000	0.49666	2.159000	0.67721	0.528000	0.53228	GTG	CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000187048		0.552	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	380	0.00	0	A	NM_000778	Missense_Mutation	47398508	47398508	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	missense	309	11.65	41	SNP	1.000	C
CYP4F3	4051	genome.wustl.edu	37	19	15769165	15769165	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:15769165A>C	ENST00000221307.8	+	10	1254	c.1207A>C	c.(1207-1209)Acc>Ccc	p.T403P	CYP4F3_ENST00000591058.1_Missense_Mutation_p.T403P|CYP4F3_ENST00000586182.2_Missense_Mutation_p.T403P|CYP4F3_ENST00000585846.1_Missense_Mutation_p.T403P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	403					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCGCTGCTGCACCCAAGACAT	0.642																																						dbGAP											0													62.0	64.0	63.0					19																	15769165		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1207A>C	19.37:g.15769165A>C	ENSP00000221307:p.Thr403Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.T403P	ENST00000221307.8	37	c.1207	CCDS12332.1	19	.	.	.	.	.	.	.	.	.	.	.	13.30	2.195097	0.38806	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.69685	-0.42	4.53	4.53	0.55603	.	0.268698	0.27526	U	0.018978	T	0.75072	0.3800	M	0.85462	2.755	0.42701	D	0.993618	B;B;B	0.28378	0.056;0.125;0.209	B;B;B	0.40602	0.151;0.254;0.334	T	0.77776	-0.2461	10	0.66056	D	0.02	.	11.8201	0.52235	1.0:0.0:0.0:0.0	.	113;403;403	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	P	330;403	ENSP00000221307:T403P	ENSP00000221307:T403P	T	+	1	0	CYP4F3	15630165	0.981000	0.34729	1.000000	0.80357	0.590000	0.36582	1.328000	0.33758	1.682000	0.51000	0.254000	0.18369	ACC	CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186529		0.642	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	137	0.72	1	A	NM_000896		15769165	15769165	+1	no_errors	ENST00000221307	ensembl	human	known	69_37n	missense	130	18.75	30	SNP	1.000	C
CYP4F11	57834	genome.wustl.edu	37	19	16040302	16040302	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:16040302T>G	ENST00000402119.4	-	2	734	c.308A>C	c.(307-309)cAc>cCc	p.H103P	CYP4F11_ENST00000248041.8_Missense_Mutation_p.H103P|CYP4F11_ENST00000326742.8_Missense_Mutation_p.H103P|CYP4F11_ENST00000591841.1_5'Flank	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AATGTCAGGGTGGCATAAAAT	0.557																																						dbGAP											0													153.0	154.0	154.0					19																	16040302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.308A>C	19.37:g.16040302T>G	ENSP00000384588:p.His103Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.H103P	ENST00000402119.4	37	c.308	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	t	15.57	2.873712	0.51695	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.95885	-3.84;-3.84;-3.84	2.97	2.97	0.34412	.	0.000000	0.64402	U	0.000002	D	0.96996	0.9019	M	0.80028	2.48	0.49051	D	0.999746	D;D	0.89917	1.0;0.992	D;D	0.78314	0.991;0.987	D	0.96571	0.9423	10	0.87932	D	0	.	9.0532	0.36389	0.0:0.0:0.0:1.0	.	103;103	F8W978;Q9HBI6	.;CP4FB_HUMAN	P	103	ENSP00000384588:H103P;ENSP00000248041:H103P;ENSP00000319859:H103P	ENSP00000248041:H103P	H	-	2	0	CYP4F11	15901302	1.000000	0.71417	0.969000	0.41365	0.087000	0.18053	5.327000	0.65881	1.213000	0.43380	0.260000	0.18958	CAC	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171903		0.557	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	54	0.00	0	T	NM_021187		16040302	16040302	-1	no_errors	ENST00000248041	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	G
CYSTM1	84418	genome.wustl.edu	37	5	139574107	139574107	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:139574107A>C	ENST00000261811.4	+	2	721	c.57A>C	c.(55-57)ccA>ccC	p.P19P	AC011379.1_ENST00000583981.1_RNA|CYSTM1_ENST00000509789.2_Intron	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	19	Pro-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCCATACCCACCTTATCCAC	0.552																																						dbGAP											0													111.0	110.0	111.0					5																	139574107		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.57A>C	5.37:g.139574107A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBA5	Silent	SNP	NULL	p.P19	ENST00000261811.4	37	c.57	CCDS4221.1	5																																																																																			CYSTM1	-	NULL	ENSG00000120306		0.552	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSTM1	HGNC	protein_coding	OTTHUMT00000251342.2	202	0.49	1	A	NM_032412		139574107	139574107	+1	no_errors	ENST00000261811	ensembl	human	known	69_37n	silent	177	19.91	44	SNP	0.999	C
DAB2IP	153090	genome.wustl.edu	37	9	124544715	124544715	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:124544715A>C	ENST00000408936.3	+	16	3690	c.3508A>C	c.(3508-3510)Acc>Ccc	p.T1170P	DAB2IP_ENST00000259371.2_Intron|DAB2IP_ENST00000309989.1_Missense_Mutation_p.T1046P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1170					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CATCTCCCCCACCAACCCCAC	0.572																																						dbGAP											0													184.0	164.0	171.0					9																	124544715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3508A>C	9.37:g.124544715A>C	ENSP00000386183:p.Thr1170Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.T1170P	ENST00000408936.3	37	c.3508		9	.	.	.	.	.	.	.	.	.	.	A	19.70	3.877213	0.72294	.	.	ENSG00000136848	ENST00000408936;ENST00000309989	T;T	0.19532	2.24;2.14	5.07	5.07	0.68467	.	.	.	.	.	T	0.32675	0.0837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02288	-1.1182	6	0.33940	T	0.23	.	14.012	0.64503	1.0:0.0:0.0:0.0	.	.	.	.	P	1170;1046	ENSP00000386183:T1170P;ENSP00000310827:T1046P	ENSP00000310827:T1046P	T	+	1	0	DAB2IP	123584536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	1.910000	0.55303	0.374000	0.22700	ACC	DAB2IP	-	NULL	ENSG00000136848		0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	199	0.99	2	A	NM_032552		124544715	124544715	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	1.000	C
DACH1	1602	genome.wustl.edu	37	13	72440234	72440234	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:72440234A>C	ENST00000359684.2	-	1	673	c.674T>G	c.(673-675)gTg>gGg	p.V225G	DACH1_ENST00000305425.4_Missense_Mutation_p.V225G|DACH1_ENST00000354591.4_Missense_Mutation_p.V225G|DACH1_ENST00000313174.7_Missense_Mutation_p.V225G			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	225	DACHbox-N.|Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAAGCCCCCCACCAAGTGCTT	0.612																																						dbGAP											0													75.0	79.0	78.0					13																	72440234		2026	4195	6221	-	-	-	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.674T>G	13.37:g.72440234A>C	ENSP00000352712:p.Val225Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.V225G	ENST00000359684.2	37	c.674		13	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583380	0.65992	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.51071	0.72;0.78;0.81;0.78	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.67859	0.2938	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.991;0.998	T	0.72824	-0.4176	10	0.87932	D	0	-7.3527	12.8378	0.57784	1.0:0.0:0.0:0.0	.	223;223;223	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	G	225	ENSP00000304994:V225G;ENSP00000318506:V225G;ENSP00000346604:V225G;ENSP00000352712:V225G	ENSP00000304994:V225G	V	-	2	0	DACH1	71338235	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.606000	0.90888	1.500000	0.48636	0.260000	0.18958	GTG	DACH1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000165659		0.612	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	49	0.00	0	A	NM_004392		72440234	72440234	-1	no_errors	ENST00000359684	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	C
DACH2	117154	genome.wustl.edu	37	X	85404052	85404052	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:85404052G>A	ENST00000373125.4	+	1	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H	DACH2_ENST00000373131.1_Missense_Mutation_p.R143H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	143	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGGGTAAACCGCTGCAAACTC	0.552																																						dbGAP											0													48.0	50.0	49.0					X																	85404052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.428G>A	X.37:g.85404052G>A	ENSP00000362217:p.Arg143His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.R143H	ENST00000373125.4	37	c.428	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838007	0.71373	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.84873	-1.91;-1.91	4.5	3.63	0.41609	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.51477	D	0.000085	D	0.92289	0.7554	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92466	0.5981	10	0.72032	D	0.01	.	11.4619	0.50215	0.0914:0.0:0.9086:0.0	.	143;143	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	H	143	ENSP00000362223:R143H;ENSP00000362217:R143H	ENSP00000345134:R143H	R	+	2	0	DACH2	85290708	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.018000	0.76406	0.907000	0.36646	-0.268000	0.10319	CGC	DACH2	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000126733		0.552	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	89	0.00	0	G	NM_053281		85404052	85404052	+1	no_errors	ENST00000373125	ensembl	human	known	69_37n	missense	64	27.96	26	SNP	1.000	A
DAG1	1605	genome.wustl.edu	37	3	49548056	49548056	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49548056A>C	ENST00000539901.1	+	2	647	c.89A>C	c.(88-90)cAc>cCc	p.H30P	DAG1_ENST00000545947.1_Missense_Mutation_p.H30P|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000541308.1_Missense_Mutation_p.H30P|DAG1_ENST00000308775.2_Missense_Mutation_p.H30P|DAG1_ENST00000515359.2_Missense_Mutation_p.H30P|DAG1_ENST00000538711.1_Missense_Mutation_p.H30P	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	30	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCTCAGTCCCACTGGCCCAGT	0.602																																						dbGAP											0													78.0	73.0	75.0					3																	49548056		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.89A>C	3.37:g.49548056A>C	ENSP00000439334:p.His30Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.H30P	ENST00000539901.1	37	c.89	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911531	0.33721	.	.	ENSG00000173402	ENST00000515359;ENST00000421560;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000418588;ENST00000431960;ENST00000452317;ENST00000435508;ENST00000452060;ENST00000428779	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61158	0.89;0.86;0.89;0.89;0.89;0.89;0.89;0.83;0.88;0.13;0.64;0.82;0.84	5.44	-7.85	0.01192	.	0.738209	0.13491	N	0.384004	T	0.39600	0.1084	L	0.40543	1.245	0.28398	N	0.918788	B	0.22604	0.072	B	0.19946	0.027	T	0.08166	-1.0735	10	0.34782	T	0.22	-0.9142	10.4652	0.44602	0.3699:0.0:0.5251:0.105	.	30	Q14118	DAG1_HUMAN	P	30	ENSP00000440705:H30P;ENSP00000412067:H30P;ENSP00000312435:H30P;ENSP00000442600:H30P;ENSP00000440590:H30P;ENSP00000439334:H30P;ENSP00000438421:H30P;ENSP00000405859:H30P;ENSP00000388833:H30P;ENSP00000387859:H30P;ENSP00000415321:H30P;ENSP00000410145:H30P;ENSP00000401382:H30P	ENSP00000312435:H30P	H	+	2	0	DAG1	49523060	0.005000	0.15991	0.591000	0.28745	0.939000	0.58152	-0.203000	0.09438	-1.876000	0.01131	-0.385000	0.06624	CAC	DAG1	-	NULL	ENSG00000173402		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	68	0.00	0	A			49548056	49548056	+1	no_errors	ENST00000308775	ensembl	human	known	69_37n	missense	64	18.99	15	SNP	0.710	C
DAZAP2	9802	genome.wustl.edu	37	12	51634212	51634212	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:51634212A>C	ENST00000412716.3	+	2	715	c.99A>C	c.(97-99)ccA>ccC	p.P33P	DAZAP2_ENST00000604900.1_Silent_p.P33P|DAZAP2_ENST00000549732.2_Silent_p.P33P|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Silent_p.P33P|DAZAP2_ENST00000425012.2_Silent_p.P33P|DAZAP2_ENST00000549555.1_Silent_p.P33P|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Silent_p.P33P			Q15038	DAZP2_HUMAN	DAZ associated protein 2	33	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTCAGGCTCCACCCTATACCG	0.502																																						dbGAP											0													136.0	122.0	127.0					12																	51634212		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.99A>C	12.37:g.51634212A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Silent	SNP	pfam_DAZ_assoc-2	p.P33	ENST00000412716.3	37	c.99	CCDS8809.1	12																																																																																			DAZAP2	-	NULL	ENSG00000183283		0.502	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2	121	0.82	1	A	NM_014764		51634212	51634212	+1	no_errors	ENST00000549555	ensembl	human	known	69_37n	silent	92	23.33	28	SNP	1.000	C
DAZAP2	9802	genome.wustl.edu	37	12	51634819	51634819	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:51634819A>C	ENST00000412716.3	+	3	913	c.297A>C	c.(295-297)ccA>ccC	p.P99P	DAZAP2_ENST00000604900.1_Silent_p.P99P|DAZAP2_ENST00000549732.2_Silent_p.P67P|DAZAP2_ENST00000551313.1_Silent_p.P39P|DAZAP2_ENST00000449723.3_Silent_p.P77P|DAZAP2_ENST00000425012.2_Silent_p.P99P|DAZAP2_ENST00000549555.1_Silent_p.P99P|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	99	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CCATCTATCCACCTGGCTCCA	0.547																																						dbGAP											0													113.0	106.0	109.0					12																	51634819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.297A>C	12.37:g.51634819A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Silent	SNP	pfam_DAZ_assoc-2	p.P99	ENST00000412716.3	37	c.297	CCDS8809.1	12																																																																																			DAZAP2	-	pfam_DAZ_assoc-2	ENSG00000183283		0.547	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2	130	0.76	1	A	NM_014764		51634819	51634819	+1	no_errors	ENST00000549555	ensembl	human	known	69_37n	silent	117	15.22	21	SNP	0.993	C
DCAF10	79269	genome.wustl.edu	37	9	37854793	37854793	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:37854793T>G	ENST00000377724.3	+	4	1233	c.868T>G	c.(868-870)Tgt>Ggt	p.C290G	DCAF10_ENST00000242323.7_Missense_Mutation_p.C290G|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	290					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						AGAAGATGGGTGTCCACATAA	0.353																																						dbGAP											0													164.0	153.0	157.0					9																	37854793		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.868T>G	9.37:g.37854793T>G	ENSP00000366953:p.Cys290Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C290G	ENST00000377724.3	37	c.868	CCDS6613.2	9	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041724	0.75732	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.01265	5.08;5.08	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05090	0.0136	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.96;0.999	D;D	0.78314	0.943;0.991	T	0.60979	-0.7155	10	0.22706	T	0.39	.	13.7962	0.63173	0.0:0.0:0.0:1.0	.	290;290	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	G	290	ENSP00000366953:C290G;ENSP00000242323:C290G	ENSP00000242323:C290G	C	+	1	0	DCAF10	37844793	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.501000	0.81600	2.203000	0.70933	0.482000	0.46254	TGT	DCAF10	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122741		0.353	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	HGNC	protein_coding	OTTHUMT00000052485.2	152	0.65	1	T	NM_024345		37854793	37854793	+1	no_errors	ENST00000377724	ensembl	human	known	69_37n	missense	114	17.99	25	SNP	1.000	G
DCAF10	79269	genome.wustl.edu	37	9	37860210	37860210	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:37860210A>C	ENST00000377724.3	+	6	1676				DCAF10_ENST00000242323.7_Intron|DCAF10_ENST00000483167.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GCAGCACTCCACCTTCAACAG	0.542																																						dbGAP											0													75.0	64.0	68.0					9																	37860210		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1311+20A>C	9.37:g.37860210A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	RNA	SNP	-	NULL	ENST00000377724.3	37	NULL	CCDS6613.2	9																																																																																			DCAF10	-	-	ENSG00000122741		0.542	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	HGNC	protein_coding	OTTHUMT00000052485.2	72	0.00	0	A	NM_024345		37860210	37860210	+1	no_errors	ENST00000461549	ensembl	human	known	69_37n	rna	60	21.52	17	SNP	0.000	C
DCAF5	8816	genome.wustl.edu	37	14	69529213	69529213	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:69529213A>C	ENST00000341516.5	-	8	1109	c.962T>G	c.(961-963)gTg>gGg	p.V321G	DCAF5_ENST00000557386.1_Missense_Mutation_p.V320G|DCAF5_ENST00000554215.1_Missense_Mutation_p.V239G|DCAF5_ENST00000553293.1_Intron|DCAF5_ENST00000556847.1_Missense_Mutation_p.V239G	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	321					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCCGTTGACCACCCTACCAAT	0.428																																						dbGAP											0													106.0	93.0	97.0					14																	69529213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.962T>G	14.37:g.69529213A>C	ENSP00000341351:p.Val321Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V321G	ENST00000341516.5	37	c.962	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349005	0.82132	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.70749	-0.51;-0.33;-0.33;0.1	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.46157	1.445	0.80722	D	1	P;P	0.52692	0.955;0.925	P;P	0.52957	0.714;0.545	T	0.71090	-0.4693	10	0.28530	T	0.3	-12.6367	16.8061	0.85666	1.0:0.0:0.0:0.0	.	320;321	G3V4J7;Q96JK2	.;DCAF5_HUMAN	G	321;239;239;320	ENSP00000341351:V321G;ENSP00000451551:V239G;ENSP00000452052:V239G;ENSP00000451845:V320G	ENSP00000341351:V321G	V	-	2	0	DCAF5	68598966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	GTG	DCAF5	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000139990		0.428	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	113	0.00	0	A	NM_003861		69529213	69529213	-1	no_errors	ENST00000341516	ensembl	human	known	69_37n	missense	79	24.76	26	SNP	1.000	C
DCAF4	26094	genome.wustl.edu	37	14	73418546	73418546	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:73418546A>C	ENST00000358377.2	+	9	989	c.769A>C	c.(769-771)Acc>Ccc	p.T257P	DCAF4_ENST00000394234.2_Missense_Mutation_p.T157P|DCAF4_ENST00000553457.1_Missense_Mutation_p.T157P|DCAF4_ENST00000509153.1_Missense_Mutation_p.T196P|DCAF4_ENST00000555042.1_Missense_Mutation_p.T257P|DCAF4_ENST00000353777.3_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	257					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AGGCTGTGCCACCCTGCTCCC	0.557																																						dbGAP											0													194.0	174.0	181.0					14																	73418546		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.769A>C	14.37:g.73418546A>C	ENSP00000351147:p.Thr257Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T257P	ENST00000358377.2	37	c.769	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750904	0.69533	.	.	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T	0.61742	0.47;0.08;0.49;0.08;1.21	5.7	5.7	0.88788	.	0.038667	0.85682	D	0.000000	T	0.62816	0.2459	L	0.36672	1.1	0.47094	D	0.999315	P;D;D;D;D	0.61697	0.954;0.97;0.99;0.99;0.964	P;P;P;P;P	0.57960	0.548;0.68;0.83;0.83;0.68	T	0.63470	-0.6630	10	0.46703	T	0.11	.	14.5398	0.67984	1.0:0.0:0.0:0.0	.	196;235;257;257;257	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q8WV16	.;.;.;.;DCAF4_HUMAN	P	257;157;196;257;157	ENSP00000351147:T257P;ENSP00000377781:T157P;ENSP00000426178:T196P;ENSP00000452131:T257P;ENSP00000451186:T157P	ENSP00000351147:T257P	T	+	1	0	DCAF4	72488299	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	8.604000	0.90877	2.176000	0.68965	0.379000	0.24179	ACC	DCAF4	-	NULL	ENSG00000119599		0.557	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1	233	0.85	2	A	NM_015604		73418546	73418546	+1	no_errors	ENST00000358377	ensembl	human	known	69_37n	missense	172	17.22	36	SNP	1.000	C
DCAKD	79877	genome.wustl.edu	37	17	43111608	43111608	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:43111608T>G	ENST00000452796.2	-	2	518	c.263A>C	c.(262-264)cAc>cCc	p.H88P	DCAKD_ENST00000588499.1_Missense_Mutation_p.H88P|DCAKD_ENST00000342350.5_Missense_Mutation_p.H88P|DCAKD_ENST00000310604.4_Missense_Mutation_p.H88P|DCAKD_ENST00000588295.1_5'UTR			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	88	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				AATCTCGGGGTGGGTGATGGC	0.622																																						dbGAP											0													82.0	81.0	81.0					17																	43111608		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.263A>C	17.37:g.43111608T>G	ENSP00000413483:p.His88Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase	p.H88P	ENST00000452796.2	37	c.263	CCDS11493.1	17	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717484	0.89205	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.57752	0.38;0.38;0.38	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.89801	0.3975	10	0.87932	D	0	-5.3627	15.1417	0.72615	0.0:0.0:0.0:1.0	.	88;88	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	P	88	ENSP00000341504:H88P;ENSP00000413483:H88P;ENSP00000308515:H88P	ENSP00000308515:H88P	H	-	2	0	DCAKD	40467134	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.836000	0.86788	2.163000	0.67991	0.459000	0.35465	CAC	DCAKD	-	pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase	ENSG00000172992		0.622	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DCAKD	HGNC	protein_coding	OTTHUMT00000449066.1	25	0.00	0	T	NM_024819		43111608	43111608	-1	no_errors	ENST00000342350	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	G
DCBLD2	131566	genome.wustl.edu	37	3	98519555	98519555	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:98519555A>C	ENST00000326840.6	-	15	2088	c.1726T>G	c.(1726-1728)Tgg>Ggg	p.W576G	DCBLD2_ENST00000326857.9_Missense_Mutation_p.W590G	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	576					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ATTCCTTTCCACCAACCTTCA	0.423																																						dbGAP											0													160.0	146.0	151.0					3																	98519555		1926	4147	6073	-	-	-	SO:0001583	missense	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1726T>G	3.37:g.98519555A>C	ENSP00000321573:p.Trp576Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.W590G	ENST00000326840.6	37	c.1768	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212625	0.79240	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.35973	1.28;1.28	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.59804	-0.7385	10	0.66056	D	0.02	-9.1626	14.1023	0.65065	1.0:0.0:0.0:0.0	.	590;576	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	G	576;590	ENSP00000321573:W576G;ENSP00000321646:W590G	ENSP00000321573:W576G	W	-	1	0	DCBLD2	100002245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.842000	0.86851	2.224000	0.72417	0.533000	0.62120	TGG	DCBLD2	-	NULL	ENSG00000057019		0.423	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	299	0.00	0	A	NM_080927		98519555	98519555	-1	no_errors	ENST00000326857	ensembl	human	known	69_37n	missense	225	12.36	32	SNP	1.000	C
DCC	1630	genome.wustl.edu	37	18	50592444	50592444	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:50592444T>G	ENST00000442544.2	+	7	1785	c.1169T>G	c.(1168-1170)gTg>gGg	p.V390G	DCC_ENST00000412726.1_Missense_Mutation_p.V238G|DCC_ENST00000581580.1_Missense_Mutation_p.V45G|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	390	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATACTTGGGGTGGTGAAGTCA	0.428																																						dbGAP											0													182.0	177.0	179.0					18																	50592444		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1169T>G	18.37:g.50592444T>G	ENSP00000389140:p.Val390Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V390G	ENST00000442544.2	37	c.1169	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476248	0.44044	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.72394	-0.65;-0.65	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092668	0.45867	D	0.000325	D	0.84138	0.5406	M	0.92784	3.345	0.80722	D	1	D;P;P	0.55800	0.973;0.942;0.694	P;P;P	0.54401	0.751;0.751;0.75	D	0.88345	0.2977	10	0.87932	D	0	.	14.2532	0.66033	0.0:0.0:0.0:1.0	.	238;238;390	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	G	390;323;238	ENSP00000389140:V390G;ENSP00000397322:V238G	ENSP00000304146:V323G	V	+	2	0	DCC	48846442	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.442000	0.80503	2.020000	0.59435	0.528000	0.53228	GTG	DCC	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000187323		0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	204	0.97	2	T	NM_005215		50592444	50592444	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	127	23.81	40	SNP	1.000	G
DCC	1630	genome.wustl.edu	37	18	50683785	50683785	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:50683785T>C	ENST00000442544.2	+	8	1937	c.1321T>C	c.(1321-1323)Tcc>Ccc	p.S441P	DCC_ENST00000412726.1_Missense_Mutation_p.S289P|DCC_ENST00000581580.1_Missense_Mutation_p.S96P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	441	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTCTTGGTTTCCAGCCGATT	0.537																																						dbGAP											0													171.0	156.0	161.0					18																	50683785		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1321T>C	18.37:g.50683785T>C	ENSP00000389140:p.Ser441Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S441P	ENST00000442544.2	37	c.1321	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858565	0.51376	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.59772	0.24;0.24	5.34	5.34	0.76211	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.81740	0.4886	M	0.94142	3.5	0.46542	D	0.99909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.995;0.999	D	0.85330	0.1089	10	0.42905	T	0.14	.	14.3111	0.66416	0.0:0.0:0.0:1.0	.	289;289;441	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	P	441;374;289	ENSP00000389140:S441P;ENSP00000397322:S289P	ENSP00000304146:S374P	S	+	1	0	DCC	48937783	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.224000	0.78042	2.031000	0.59945	0.459000	0.35465	TCC	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.537	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	327	0.91	3	T	NM_005215		50683785	50683785	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	242	12.90	36	SNP	1.000	C
DCLK3	85443	genome.wustl.edu	37	3	36759653	36759653	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:36759653A>C	ENST00000416516.2	-	4	2091	c.1601T>G	c.(1600-1602)gTg>gGg	p.V534G	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	534	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCACATGTCCACCTCCAGTCC	0.527																																						dbGAP											0													122.0	135.0	130.0					3																	36759653		2147	4276	6423	-	-	-	SO:0001583	missense	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1601T>G	3.37:g.36759653A>C	ENSP00000394484:p.Val534Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		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,pfscan_Prot_kinase_cat_dom	p.V534G	ENST00000416516.2	37	c.1601	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819919	0.90873	.	.	ENSG00000163673	ENST00000416516	T	0.46063	0.88	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30159	N	0.010275	T	0.67297	0.2878	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72246	-0.4349	10	0.87932	D	0	.	15.9258	0.79615	1.0:0.0:0.0:0.0	.	534	Q9C098	DCLK3_HUMAN	G	534	ENSP00000394484:V534G	ENSP00000394484:V534G	V	-	2	0	DCLK3	36734657	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.279000	0.95777	2.231000	0.72958	0.454000	0.30748	GTG	DCLK3	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000163673		0.527	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	324	0.91	3	A	XM_047355		36759653	36759653	-1	no_errors	ENST00000416516	ensembl	human	known	69_37n	missense	257	14.33	43	SNP	1.000	C
DCSTAMP	81501	genome.wustl.edu	37	8	105367301	105367301	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:105367301A>C	ENST00000297581.2	+	3	1275	c.1226A>C	c.(1225-1227)tAc>tCc	p.Y409S	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	409					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GCATCTTTCTACCCCAGCGTG	0.458																																						dbGAP											0													139.0	137.0	137.0					8																	105367301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1226A>C	8.37:g.105367301A>C	ENSP00000297581:p.Tyr409Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1	p.Y409S	ENST00000297581.2	37	c.1226	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087828	0.55968	.	.	ENSG00000164935	ENST00000297581	T	0.51071	0.72	5.44	5.44	0.79542	Dendritic cell-specific transmembrane protein-like (1);	0.057782	0.64402	D	0.000001	T	0.66867	0.2833	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70781	-0.4779	10	0.72032	D	0.01	-17.0671	10.2909	0.43594	0.8532:0.0:0.0:0.1468	.	409	Q9H295	TM7S4_HUMAN	S	409	ENSP00000297581:Y409S	ENSP00000297581:Y409S	Y	+	2	0	TM7SF4	105436477	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	3.966000	0.56795	2.180000	0.69256	0.533000	0.62120	TAC	DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1	ENSG00000164935		0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	237	0.42	1	A	NM_030788		105367301	105367301	+1	no_errors	ENST00000297581	ensembl	human	known	69_37n	missense	179	15.96	34	SNP	1.000	C
DCTN2	10540	genome.wustl.edu	37	12	57926410	57926410	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57926410A>C	ENST00000548249.1	-	11	1136	c.869T>G	c.(868-870)gTg>gGg	p.V290G	DCTN2_ENST00000543672.1_Missense_Mutation_p.V295G|DCTN2_ENST00000537439.1_Missense_Mutation_p.V267G|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000434715.3_Missense_Mutation_p.V295G	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	290					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AATCTCGTTCACCTTTCCCAG	0.458																																						dbGAP											0													255.0	254.0	254.0					12																	57926410		2039	4189	6228	-	-	-	SO:0001583	missense	0			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.869T>G	12.37:g.57926410A>C	ENSP00000447824:p.Val290Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	pfam_Dynamitin_2su	p.V295G	ENST00000548249.1	37	c.884	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751832	0.69533	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000543105;ENST00000546758	.	.	.	5.31	5.31	0.75309	.	0.047613	0.85682	D	0.000000	T	0.45736	0.1357	L	0.34521	1.04	0.80722	D	1	P;P	0.45827	0.867;0.815	B;B	0.42798	0.277;0.398	T	0.46456	-0.9190	9	0.48119	T	0.1	-12.1367	14.6932	0.69101	1.0:0.0:0.0:0.0	.	295;290	F5H2S7;Q13561	.;DCTN2_HUMAN	G	290;295;295;267;203;157	.	ENSP00000408910:V295G	V	-	2	0	DCTN2	56212677	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.669000	0.68081	2.367000	0.80283	0.528000	0.53228	GTG	DCTN2	-	pfam_Dynamitin_2su	ENSG00000175203		0.458	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	HGNC	protein_coding	OTTHUMT00000407393.2	101	0.00	0	A	NM_006400		57926410	57926410	-1	no_errors	ENST00000434715	ensembl	human	known	69_37n	missense	132	13.64	21	SNP	1.000	C
DCUN1D2	55208	genome.wustl.edu	37	13	114112365	114112365	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:114112365A>C	ENST00000478244.1	-	7	1041	c.759T>G	c.(757-759)ggT>ggG	p.G253G	DCUN1D2_ENST00000332592.3_Silent_p.G120G	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	253										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			TGCGTTTTCCACCTGTGACTA	0.448											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													234.0	241.0	239.0					13																	114112365		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.759T>G	13.37:g.114112365A>C		Somatic	1455	WXS	Illumina GAIIx	Phase_IV	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Silent	SNP	pfam_PONY_dom,superfamily_UBA-like	p.G253	ENST00000478244.1	37	c.759	CCDS32013.1	13																																																																																			DCUN1D2	-	NULL	ENSG00000150401		0.448	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D2	HGNC	protein_coding	OTTHUMT00000045938.4	185	0.00	0	A	NM_018185		114112365	114112365	-1	no_errors	ENST00000478244	ensembl	human	known	69_37n	silent	136	13.92	22	SNP	0.003	C
DCUN1D3	123879	genome.wustl.edu	37	16	20873717	20873717	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:20873717A>C	ENST00000324344.4	-	2	429	c.144T>G	c.(142-144)ggT>ggG	p.G48G	DCUN1D3_ENST00000563934.1_Silent_p.G48G|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	48					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GGATATCTCCACCTGGCTTGC	0.617																																						dbGAP											0													163.0	153.0	156.0					16																	20873717		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.144T>G	16.37:g.20873717A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVY4	Silent	SNP	pfam_PONY_dom	p.G48	ENST00000324344.4	37	c.144	CCDS10592.1	16																																																																																			DCUN1D3	-	NULL	ENSG00000188215		0.617	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	198	0.99	2	A	NM_173475		20873717	20873717	-1	no_errors	ENST00000324344	ensembl	human	known	69_37n	silent	174	16.90	36	SNP	1.000	C
DDHD2	23259	genome.wustl.edu	37	8	38103351	38103351	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:38103351A>C	ENST00000397166.2	+	8	1465	c.940A>C	c.(940-942)Acc>Ccc	p.T314P	DDHD2_ENST00000517385.1_5'Flank|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.T314P	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	314					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAATAGTCCCACCTACTGTCA	0.438																																						dbGAP											0													130.0	128.0	129.0					8																	38103351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.940A>C	8.37:g.38103351A>C	ENSP00000380352:p.Thr314Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.T314P	ENST00000397166.2	37	c.940	CCDS34883.1	8	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297467	0.81025	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212	T;T	0.42513	0.97;0.97	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.82323	2.585	0.80722	D	1	D;P	0.64830	0.994;0.89	P;P	0.56278	0.795;0.492	T	0.62599	-0.6820	10	0.31617	T	0.26	-17.0773	15.1712	0.72875	1.0:0.0:0.0:0.0	.	126;314	B4DSR3;O94830	.;DDHD2_HUMAN	P	314;314;126	ENSP00000380352:T314P;ENSP00000429932:T314P	ENSP00000380352:T314P	T	+	1	0	DDHD2	38222508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.277000	0.95755	2.238000	0.73509	0.477000	0.44152	ACC	DDHD2	-	NULL	ENSG00000085788		0.438	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	161	0.00	0	A	XM_291291		38103351	38103351	+1	no_errors	ENST00000397166	ensembl	human	known	69_37n	missense	156	13.81	25	SNP	1.000	C
DDR2	4921	genome.wustl.edu	37	1	162735826	162735826	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:162735826A>C	ENST00000367922.3	+	11	1573	c.1135A>C	c.(1135-1137)Acc>Ccc	p.T379P	DDR2_ENST00000367921.3_Missense_Mutation_p.T379P	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	379					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	AGCCCTGCCCACCTCTCCTAT	0.458																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											0													130.0	122.0	125.0					1																	162735826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1135A>C	1.37:g.162735826A>C	ENSP00000356899:p.Thr379Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T379P	ENST00000367922.3	37	c.1135	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	A	9.467	1.094656	0.20471	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83992	-1.79;-1.79	5.48	1.9	0.25705	.	0.626267	0.16950	N	0.192954	T	0.50752	0.1634	L	0.34521	1.04	0.29223	N	0.873772	B	0.02656	0.0	B	0.04013	0.001	T	0.06373	-1.0830	9	0.22109	T	0.4	.	5.3437	0.15998	0.6139:0.1537:0.2324:0.0	.	379	Q16832	DDR2_HUMAN	P	379	ENSP00000356899:T379P;ENSP00000356898:T379P	ENSP00000356898:T379P	T	+	1	0	DDR2	161002450	0.993000	0.37304	0.854000	0.33618	0.981000	0.71138	1.275000	0.33144	0.071000	0.16664	-0.250000	0.11733	ACC	DDR2	-	NULL	ENSG00000162733		0.458	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	121	0.00	0	A	NM_006182		162735826	162735826	+1	no_errors	ENST00000367921	ensembl	human	known	69_37n	missense	155	17.02	32	SNP	0.466	C
DDX17	10521	genome.wustl.edu	37	22	38895454	38895454	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:38895454T>C	ENST00000396821.3	-	3	588	c.489A>G	c.(487-489)ggA>ggG	p.G163G	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.G84G	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383																																					Ovarian(55;1085 1454 6392 21425)	dbGAP											0													165.0	151.0	156.0					22																	38895454		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489A>G	22.37:g.38895454T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHM0|Q69YT1|Q6ICD6	Silent	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,pfscan_RNA_helicase_DEAD_Q_motif	p.G163	ENST00000396821.3	37	c.489	CCDS46706.1	22																																																																																			DDX17	-	NULL	ENSG00000100201		0.383	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	209	0.00	0	T	NM_030881		38895454	38895454	-1	no_errors	ENST00000396821	ensembl	human	known	69_37n	silent	116	10.77	14	SNP	0.978	C
DDX18	8886	genome.wustl.edu	37	2	118579547	118579547	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:118579547T>G	ENST00000263239.2	+	6	989	c.861T>G	c.(859-861)ggT>ggG	p.G287G	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	287	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						TGATAATGGGTGGCAGTAACA	0.473																																						dbGAP											0													129.0	121.0	124.0					2																	118579547		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.861T>G	2.37:g.118579547T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	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.G287	ENST00000263239.2	37	c.861	CCDS2120.1	2																																																																																			DDX18	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000088205		0.473	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	207	0.48	1	T	NM_006773		118579547	118579547	+1	no_errors	ENST00000263239	ensembl	human	known	69_37n	silent	192	15.35	35	SNP	0.012	G
DDX42	11325	genome.wustl.edu	37	17	61895210	61895210	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:61895210A>C	ENST00000578681.1	+	19	2870	c.2269A>C	c.(2269-2271)Acc>Ccc	p.T757P	DDX42_ENST00000359353.5_Missense_Mutation_p.T638P|DDX42_ENST00000583590.1_Missense_Mutation_p.T757P|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000457800.2_Missense_Mutation_p.T757P|DDX42_ENST00000389924.2_Missense_Mutation_p.T757P	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	757	Necessary for interaction with TP53BP2.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CAGCCCCGTCACCAGTGCCGC	0.577																																						dbGAP											0													80.0	72.0	74.0					17																	61895210		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2269A>C	17.37:g.61895210A>C	ENSP00000464050:p.Thr757Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	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,pfscan_RNA_helicase_DEAD_Q_motif	p.T757P	ENST00000578681.1	37	c.2269	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.708923	0.00712	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.06768	3.26;3.26	5.09	-4.98	0.03019	.	2.250690	0.01489	N	0.017007	T	0.07413	0.0187	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	10	0.25751	T	0.34	2.2044	6.9578	0.24580	0.4859:0.2128:0.3012:0.0	.	303;757	B3KV84;Q86XP3	.;DDX42_HUMAN	P	757;757;474	ENSP00000374574:T757P;ENSP00000390121:T757P	ENSP00000352308:T474P	T	+	1	0	DDX42	59248942	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.117000	0.15583	-1.378000	0.02120	-1.489000	0.00976	ACC	DDX42	-	NULL	ENSG00000198231		0.577	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	128	0.78	1	A	NM_007372		61895210	61895210	+1	no_errors	ENST00000389924	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	0.000	C
DDX5	1655	genome.wustl.edu	37	17	62499649	62499649	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:62499649A>C	ENST00000225792.5	-	6	949	c.548T>G	c.(547-549)gTg>gGg	p.V183G	DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.V183G|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.V104G	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	183	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TACTTGCTGCACCTGTTGGGC	0.458			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	dbGAP		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													91.0	81.0	85.0					17																	62499649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.548T>G	17.37:g.62499649A>C	ENSP00000225792:p.Val183Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V183G	ENST00000225792.5	37	c.548	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633406	0.47049	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T	0.07688	3.17	5.51	5.51	0.81932	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.52162	-0.8612	10	0.87932	D	0	-9.7522	15.657	0.77144	1.0:0.0:0.0:0.0	.	104;183;183	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	G	183;113;172	ENSP00000225792:V172G	ENSP00000225792:V172G	V	-	2	0	DDX5	59930111	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.789000	0.91839	2.097000	0.63578	0.533000	0.62120	GTG	DDX5	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000108654		0.458	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	120	0.00	0	A	NM_004396		62499649	62499649	-1	no_errors	ENST00000225792	ensembl	human	known	69_37n	missense	125	16.00	24	SNP	1.000	C
DDX58	23586	genome.wustl.edu	37	9	32492507	32492507	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:32492507A>C	ENST00000379883.2	-	4	610	c.453T>G	c.(451-453)ggT>ggG	p.G151G	DDX58_ENST00000379882.1_Silent_p.G106G|DDX58_ENST00000542096.1_Silent_p.G80G|DDX58_ENST00000545044.1_Intron|DDX58_ENST00000379868.1_Intron	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	151	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATTTCTCTGCACCTGCCATCA	0.378																																						dbGAP											0													139.0	130.0	133.0					9																	32492507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.453T>G	9.37:g.32492507A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G151	ENST00000379883.2	37	c.453	CCDS6526.1	9																																																																																			DDX58	-	NULL	ENSG00000107201		0.378	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	149	0.66	1	A	NM_014314		32492507	32492507	-1	no_errors	ENST00000379883	ensembl	human	known	69_37n	silent	112	24.83	37	SNP	1.000	C
DEF6	50619	genome.wustl.edu	37	6	35288978	35288978	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:35288978A>C	ENST00000316637.5	+	11	1692	c.1687A>C	c.(1687-1689)Acc>Ccc	p.T563P	DEF6_ENST00000542066.1_Missense_Mutation_p.T308P	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	563						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCGTCCGGTCACCAGCAGCTC	0.632																																						dbGAP											0													172.0	176.0	175.0					6																	35288978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1687A>C	6.37:g.35288978A>C	ENSP00000319831:p.Thr563Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T563P	ENST00000316637.5	37	c.1687	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833312	0.32421	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.24350	1.86;3.45	5.42	4.27	0.50696	.	0.381336	0.26959	N	0.021628	T	0.12347	0.0300	L	0.36672	1.1	0.09310	N	1	D;B;B	0.53745	0.962;0.021;0.021	P;B;B	0.49276	0.605;0.024;0.013	T	0.06826	-1.0805	10	0.51188	T	0.08	-13.4007	6.0635	0.19850	0.8352:0.0:0.1648:0.0	.	308;563;563	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	P	308;563	ENSP00000442166:T308P;ENSP00000319831:T563P	ENSP00000319831:T563P	T	+	1	0	DEF6	35396956	0.045000	0.20229	0.627000	0.29227	0.871000	0.50021	0.980000	0.29513	2.054000	0.61138	0.459000	0.35465	ACC	DEF6	-	NULL	ENSG00000023892		0.632	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	226	0.44	1	A	NM_022047		35288978	35288978	+1	no_errors	ENST00000316637	ensembl	human	known	69_37n	missense	275	10.42	32	SNP	0.147	C
DEF6	50619	genome.wustl.edu	37	6	35289021	35289021	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:35289021A>C	ENST00000316637.5	+	11	1735	c.1730A>C	c.(1729-1731)cAc>cCc	p.H577P	DEF6_ENST00000542066.1_Missense_Mutation_p.H322P	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	577						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CTGCTTGCCCACCGTGACTCC	0.607																																						dbGAP											0													144.0	151.0	148.0					6																	35289021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1730A>C	6.37:g.35289021A>C	ENSP00000319831:p.His577Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H577P	ENST00000316637.5	37	c.1730	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576812	0.45902	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.22539	1.95;3.55	5.42	5.42	0.78866	.	0.393055	0.29631	N	0.011602	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	0.999996	B;B;B	0.18461	0.028;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.0	T	0.23797	-1.0178	10	0.59425	D	0.04	-7.7356	11.476	0.50297	0.084:0.0:0.916:0.0	.	322;577;577	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	P	322;577	ENSP00000442166:H322P;ENSP00000319831:H577P	ENSP00000319831:H577P	H	+	2	0	DEF6	35396999	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.952000	0.40343	1.302000	0.44855	-0.215000	0.12644	CAC	DEF6	-	NULL	ENSG00000023892		0.607	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	201	0.50	1	A	NM_022047		35289021	35289021	+1	no_errors	ENST00000316637	ensembl	human	known	69_37n	missense	235	11.61	31	SNP	1.000	C
DEFB108B	245911	genome.wustl.edu	37	11	71548593	71548593	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:71548593A>C	ENST00000328698.1	+	2	207	c.207A>C	c.(205-207)acA>acC	p.T69T	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	69					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						AGAGCACTACACCCAAAAAGG	0.468																																						dbGAP											0													67.0	71.0	70.0					11																	71548593		2200	4290	6490	-	-	-	SO:0001819	synonymous_variant	0			AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"""Defensins, beta"""	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.207A>C	11.37:g.71548593A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T69	ENST00000328698.1	37	c.207	CCDS31631.1	11																																																																																			DEFB108B	-	NULL	ENSG00000184276		0.468	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB108B	HGNC	protein_coding	OTTHUMT00000394945.1	215	0.46	1	A	NM_001002035		71548593	71548593	+1	no_errors	ENST00000328698	ensembl	human	known	69_37n	silent	137	17.47	29	SNP	0.001	C
DENND2A	27147	genome.wustl.edu	37	7	140287527	140287527	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:140287527A>C	ENST00000275884.6	-	3	1466	c.1049T>G	c.(1048-1050)gTg>gGg	p.V350G	DENND2A_ENST00000537639.1_Missense_Mutation_p.V350G|DENND2A_ENST00000492720.1_Missense_Mutation_p.V350G|DENND2A_ENST00000496613.1_Missense_Mutation_p.V350G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	350					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTACCAGTCCACCCTGCTGCT	0.473																																						dbGAP											0													74.0	78.0	77.0					7																	140287527		2017	4175	6192	-	-	-	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1049T>G	7.37:g.140287527A>C	ENSP00000275884:p.Val350Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V350G	ENST00000275884.6	37	c.1049	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	A	12.68	2.011466	0.35511	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10573	3.56;3.56;3.56;2.86	5.23	1.59	0.23543	.	0.266746	0.30437	N	0.009636	T	0.10551	0.0258	L	0.52364	1.645	0.80722	D	1	P;B	0.37663	0.604;0.159	B;B	0.38842	0.283;0.131	T	0.13124	-1.0521	10	0.36615	T	0.2	-10.3064	8.6081	0.33786	0.7781:0.0:0.2219:0.0	.	350;350	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	G	350	ENSP00000275884:V350G;ENSP00000442245:V350G;ENSP00000419654:V350G;ENSP00000419464:V350G	ENSP00000275884:V350G	V	-	2	0	DENND2A	139933996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.408000	0.44574	0.328000	0.23435	0.454000	0.30748	GTG	DENND2A	-	NULL	ENSG00000146966		0.473	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	89	0.00	0	A	NM_015689		140287527	140287527	-1	no_errors	ENST00000275884	ensembl	human	known	69_37n	missense	67	25.27	23	SNP	1.000	C
DENND2A	27147	genome.wustl.edu	37	7	140301262	140301262	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:140301262T>G	ENST00000275884.6	-	2	1353	c.936A>C	c.(934-936)ccA>ccC	p.P312P	DENND2A_ENST00000537639.1_Silent_p.P312P|DENND2A_ENST00000492720.1_Silent_p.P312P|DENND2A_ENST00000496613.1_Silent_p.P312P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	312					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					Cagaggaaggtgggggagagg	0.592																																						dbGAP											0													46.0	50.0	49.0					7																	140301262		1969	4156	6125	-	-	-	SO:0001819	synonymous_variant	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.936A>C	7.37:g.140301262T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P312	ENST00000275884.6	37	c.936	CCDS43659.1	7																																																																																			DENND2A	-	NULL	ENSG00000146966		0.592	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	94	0.00	0	T	NM_015689		140301262	140301262	-1	no_errors	ENST00000275884	ensembl	human	known	69_37n	silent	152	15.56	28	SNP	0.007	G
DENND4C	55667	genome.wustl.edu	37	9	19299256	19299256	+	Silent	SNP	A	A	C	rs376962788		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:19299256A>C	ENST00000380432.2	+	4	462	c.429A>C	c.(427-429)tcA>tcC	p.S143S	DENND4C_ENST00000434457.2_Silent_p.S379S|DENND4C_ENST00000602925.1_Silent_p.S379S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	143	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAATATTATCACAGCCAGTTT	0.269																																						dbGAP											0													51.0	48.0	49.0					9																	19299256		2198	4271	6469	-	-	-	SO:0001819	synonymous_variant	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.429A>C	9.37:g.19299256A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S143	ENST00000380432.2	37	c.429		9																																																																																			DENND4C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000137145		0.269	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		61	0.00	0	A	NM_017925		19299256	19299256	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	silent	50	28.57	20	SNP	0.999	C
DENND5A	23258	genome.wustl.edu	37	11	9182336	9182336	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:9182336A>C	ENST00000328194.3	-	12	2680	c.2360T>G	c.(2359-2361)gTg>gGg	p.V787G	DENND5A_ENST00000530044.1_Missense_Mutation_p.V787G|DENND5A_ENST00000527700.1_Missense_Mutation_p.V130G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	787	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTCTCTTCCACCCCTGTGAT	0.502																																						dbGAP											0													218.0	173.0	189.0					11																	9182336		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2360T>G	11.37:g.9182336A>C	ENSP00000328524:p.Val787Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.V787G	ENST00000328194.3	37	c.2360	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770660	0.90108	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.11495	2.77;2.77;2.77	5.57	5.57	0.84162	RUN (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	M	0.66939	2.045	0.80722	D	1	D;D	0.63880	0.993;0.972	P;P	0.62560	0.904;0.703	T	0.00950	-1.1503	10	0.51188	T	0.08	.	15.7981	0.78428	1.0:0.0:0.0:0.0	.	787;787	E9PS91;Q6IQ26	.;DEN5A_HUMAN	G	787;787;130	ENSP00000328524:V787G;ENSP00000435866:V787G;ENSP00000432549:V130G	ENSP00000328524:V787G	V	-	2	0	DENND5A	9138912	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.336000	0.96533	2.140000	0.66376	0.529000	0.55759	GTG	DENND5A	-	pfscan_Run	ENSG00000184014		0.502	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	170	0.58	1	A	NM_015213		9182336	9182336	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	missense	179	15.49	33	SNP	1.000	C
DENND5A	23258	genome.wustl.edu	37	11	9182396	9182396	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:9182396A>C	ENST00000328194.3	-	12	2620	c.2300T>G	c.(2299-2301)gTg>gGg	p.V767G	DENND5A_ENST00000530044.1_Missense_Mutation_p.V767G|DENND5A_ENST00000527700.1_Missense_Mutation_p.V110G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	767					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCTTTTCCACCAGCATCCT	0.522																																						dbGAP											0													167.0	149.0	155.0					11																	9182396		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2300T>G	11.37:g.9182396A>C	ENSP00000328524:p.Val767Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.V767G	ENST00000328194.3	37	c.2300	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712715	0.89112	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.12039	2.72;2.72;2.72	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.71581	2.175	0.80722	D	1	P;D	0.63880	0.931;0.993	P;D	0.62955	0.566;0.909	T	0.08513	-1.0718	10	0.87932	D	0	.	16.226	0.82293	1.0:0.0:0.0:0.0	.	767;767	E9PS91;Q6IQ26	.;DEN5A_HUMAN	G	767;767;110	ENSP00000328524:V767G;ENSP00000435866:V767G;ENSP00000432549:V110G	ENSP00000328524:V767G	V	-	2	0	DENND5A	9138972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.336000	0.96533	2.231000	0.72958	0.529000	0.55759	GTG	DENND5A	-	NULL	ENSG00000184014		0.522	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	195	0.51	1	A	NM_015213		9182396	9182396	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	missense	222	15.59	41	SNP	1.000	C
DFNA5	1687	genome.wustl.edu	37	7	24789225	24789225	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:24789225T>G	ENST00000342947.3	-	2	594	c.169A>C	c.(169-171)Acc>Ccc	p.T57P	DFNA5_ENST00000409775.3_Missense_Mutation_p.T57P|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	57					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCGCCAAGGGTGAGGGATAAA	0.398																																					GBM(78;184 1250 20134 20900 23600)	dbGAP											0													160.0	167.0	165.0					7																	24789225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.169A>C	7.37:g.24789225T>G	ENSP00000339587:p.Thr57Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	pfam_Gasdermin	p.T57P	ENST00000342947.3	37	c.169	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871394	0.51695	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.29142	1.58;1.58	5.54	4.37	0.52481	.	0.242784	0.47093	D	0.000254	T	0.52948	0.1766	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68039	0.955;0.955	T	0.56208	-0.8017	10	0.87932	D	0	-15.2867	10.9131	0.47120	0.2492:0.0:0.0:0.7507	.	57;57	A4FTY0;O60443	.;DFNA5_HUMAN	P	57	ENSP00000339587:T57P;ENSP00000386670:T57P	ENSP00000339587:T57P	T	-	1	0	DFNA5	24755750	1.000000	0.71417	0.933000	0.37362	0.413000	0.31143	2.551000	0.45820	0.911000	0.36747	-0.336000	0.08194	ACC	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.398	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	185	0.54	1	T	NM_004403		24789225	24789225	-1	no_errors	ENST00000342947	ensembl	human	known	69_37n	missense	162	15.18	29	SNP	1.000	G
DGKH	160851	genome.wustl.edu	37	13	42729872	42729872	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:42729872A>C	ENST00000337343.4	+	5	580	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	DGKH_ENST00000379274.2_Missense_Mutation_p.T51P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.T51P|DGKH_ENST00000540693.1_Missense_Mutation_p.T187P|DGKH_ENST00000261491.5_Missense_Mutation_p.T187P|DGKH_ENST00000538674.1_Silent_p.P19P	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	187					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CGCCCGACCCACCTTCTGTAA	0.522																																						dbGAP											0													178.0	121.0	140.0					13																	42729872		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.559A>C	13.37:g.42729872A>C	ENSP00000337572:p.Thr187Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.T187P	ENST00000337343.4	37	c.559	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	A	24.0	4.484269	0.84854	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31	6.04	6.04	0.98038	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.103286	0.64402	D	0.000003	D	0.97860	0.9297	H	0.95850	3.73	0.80722	D	1	D;D;B	0.89917	1.0;0.969;0.03	D;P;B	0.78314	0.991;0.824;0.158	D	0.98886	1.0771	10	0.66056	D	0.02	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	51;187;187	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	P	187;187;187;51;51	ENSP00000440823:T187P;ENSP00000337572:T187P;ENSP00000261491:T187P;ENSP00000368576:T51P;ENSP00000445114:T51P	ENSP00000261491:T187P	T	+	1	0	DGKH	41627872	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	8.962000	0.93254	2.330000	0.79161	0.477000	0.44152	ACC	DGKH	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000102780		0.522	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	141	0.70	1	A	NM_178009		42729872	42729872	+1	no_errors	ENST00000337343	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	1.000	C
DHCR7	1717	genome.wustl.edu	37	11	71152322	71152322	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:71152322T>G	ENST00000355527.3	-	6	853	c.577A>C	c.(577-579)Acc>Ccc	p.T193P	DHCR7_ENST00000407721.2_Missense_Mutation_p.T193P	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	193					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ATGGCGAAGGTGGAGACGGCA	0.557									Smith-Lemli-Opitz syndrome																													dbGAP											0													155.0	121.0	132.0					11																	71152322		2200	4294	6494	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.577A>C	11.37:g.71152322T>G	ENSP00000347717:p.Thr193Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Z2|O60492|O60717	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.T193P	ENST00000355527.3	37	c.577	CCDS8200.1	11	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531028	0.27387	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316	D;D;D	0.98075	-4.7;-4.7;-4.7	4.14	3.01	0.34805	.	0.218329	0.46145	D	0.000319	D	0.97629	0.9223	M	0.80332	2.49	0.80722	D	1	D	0.60575	0.988	P	0.54965	0.765	D	0.96438	0.9324	10	0.66056	D	0.02	-27.7278	7.5521	0.27804	0.0:0.1069:0.0:0.8931	.	193	Q9UBM7	DHCR7_HUMAN	P	193;193;205;161	ENSP00000384739:T193P;ENSP00000347717:T193P;ENSP00000435047:T161P	ENSP00000347717:T193P	T	-	1	0	DHCR7	70829970	1.000000	0.71417	0.993000	0.49108	0.432000	0.31715	3.299000	0.51826	0.594000	0.29761	0.260000	0.18958	ACC	DHCR7	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000172893		0.557	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1	50	0.00	0	T	NM_001360		71152322	71152322	-1	no_errors	ENST00000355527	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	1.000	G
DHRS11	79154	genome.wustl.edu	37	17	34954593	34954593	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:34954593T>G	ENST00000251312.5	+	3	571	c.359T>G	c.(358-360)gTg>gGg	p.V120G	DHRS11_ENST00000590554.1_Splice_Site_p.V41G	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	120						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GGCCTGCAGGTGAACGTGCTG	0.582																																						dbGAP											0													157.0	123.0	134.0					17																	34954593		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.358-1T>G	17.37:g.34954593T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.V120G	ENST00000251312.5	37	c.359	CCDS11315.2	17	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729463	0.89390	.	.	ENSG00000108272	ENST00000251312	D	0.88818	-2.43	5.26	5.26	0.73747	NAD(P)-binding domain (1);	0.057808	0.64402	D	0.000002	D	0.95370	0.8497	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96285	0.9209	10	0.87932	D	0	-9.109	14.3657	0.66805	0.0:0.0:0.0:1.0	.	120	Q6UWP2	DHR11_HUMAN	G	120	ENSP00000251312:V120G	ENSP00000251312:V120G	V	+	2	0	DHRS11	32028706	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.455000	0.80726	1.999000	0.58509	0.459000	0.35465	GTG	DHRS11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000108272		0.582	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS11	HGNC	protein_coding	OTTHUMT00000256681.2	75	0.00	0	T	NM_024308	Missense_Mutation	34954593	34954593	+1	no_errors	ENST00000251312	ensembl	human	known	69_37n	missense	69	15.66	13	SNP	1.000	G
DHRS2	10202	genome.wustl.edu	37	14	24108206	24108206	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24108206A>C	ENST00000250383.6	+	2	609	c.133A>C	c.(133-135)Acc>Ccc	p.T45P	DHRS2_ENST00000344777.7_Missense_Mutation_p.T45P|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	45					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CACGGGGTCCACCAGTGGGTG	0.587																																						dbGAP											0													69.0	72.0	71.0					14																	24108206		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.133A>C	14.37:g.24108206A>C	ENSP00000250383:p.Thr45Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.T45P	ENST00000250383.6	37	c.133	CCDS9604.1	14	.	.	.	.	.	.	.	.	.	.	.	18.54	3.645994	0.67358	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.23950	1.88;1.88;1.88	5.4	4.25	0.50352	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.996;0.985	T	0.54768	-0.8244	10	0.87932	D	0	.	8.5407	0.33390	0.8286:0.0:0.0:0.1714	.	23;45;45;23	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	P	45	ENSP00000401213:T45P;ENSP00000250383:T45P;ENSP00000344674:T45P	ENSP00000250383:T45P	T	+	1	0	DHRS2	23178046	0.998000	0.40836	0.094000	0.20943	0.040000	0.13550	3.406000	0.52637	1.051000	0.40369	0.460000	0.39030	ACC	DHRS2	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH	ENSG00000100867		0.587	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHRS2	HGNC	protein_coding	OTTHUMT00000071842.2	82	0.00	0	A	NM_182908		24108206	24108206	+1	no_errors	ENST00000344777	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	C
DHTKD1	55526	genome.wustl.edu	37	10	12142222	12142222	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:12142222A>C	ENST00000263035.4	+	9	1779	c.1717A>C	c.(1717-1719)Acc>Ccc	p.T573P		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	573					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGACTGGGCCACCGCGGAAGC	0.408																																						dbGAP											0													145.0	159.0	155.0					10																	12142222		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1717A>C	10.37:g.12142222A>C	ENSP00000263035:p.Thr573Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.T573P	ENST00000263035.4	37	c.1717	CCDS7087.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.37|19.37	3.814096|3.814096	0.70912|0.70912	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000448829|ENST00000263035	.|D	.|0.91894	.|-2.93	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Transketolase-like, pyrimidine-binding domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97216|0.97216	0.9090|0.9090	H|H	0.95224|0.95224	3.64|3.64	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97905|0.97905	1.0305|1.0305	5|10	.|0.51188	.|T	.|0.08	-9.1957|-9.1957	15.4368|15.4368	0.75152|0.75152	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|573	.|Q96HY7	.|DHTK1_HUMAN	P|P	124|573	.|ENSP00000263035:T573P	.|ENSP00000263035:T573P	H|T	+|+	2|1	0|0	DHTKD1|DHTKD1	12182228|12182228	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.482000|0.482000	0.33219|0.33219	6.596000|6.596000	0.74113|0.74113	2.049000|2.049000	0.60858|0.60858	0.397000|0.397000	0.26171|0.26171	CAC|ACC	DHTKD1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.408	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	144	0.00	0	A	NM_018706		12142222	12142222	+1	no_errors	ENST00000263035	ensembl	human	known	69_37n	missense	127	11.72	17	SNP	1.000	C
DHX30	22907	genome.wustl.edu	37	3	47859583	47859583	+	Missense_Mutation	SNP	A	A	C	rs200465272	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:47859583A>C	ENST00000445061.1	+	4	507	c.100A>C	c.(100-102)Acc>Ccc	p.T34P	DHX30_ENST00000348968.4_Missense_Mutation_p.T6P|DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000476446.1_3'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	34						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		tgtcaaccctaccccaggagg	0.637																																						dbGAP											0													135.0	123.0	127.0					3																	47859583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.100A>C	3.37:g.47859583A>C	ENSP00000405620:p.Thr34Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T34P	ENST00000445061.1	37	c.100	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527313	0.64860	.	.	ENSG00000132153	ENST00000445061;ENST00000348968	T;T	0.03212	4.01;4.01	5.73	5.73	0.89815	.	0.474582	0.18118	N	0.151143	T	0.02727	0.0082	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52019	-0.8631	10	0.59425	D	0.04	.	10.959	0.47374	0.0857:0.0:0.9143:0.0	.	34	Q7L2E3	DHX30_HUMAN	P	34;6	ENSP00000405620:T34P;ENSP00000343442:T6P	ENSP00000343442:T6P	T	+	1	0	DHX30	47834587	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.427000	0.34881	1.443000	0.47586	-0.213000	0.12676	ACC	DHX30	-	NULL	ENSG00000132153		0.637	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	73	0.00	0	A	NM_138615		47859583	47859583	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	1.000	C
DHX34	9704	genome.wustl.edu	37	19	47884194	47884194	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:47884194A>C	ENST00000328771.4	+	15	3453	c.3104A>C	c.(3103-3105)cAc>cCc	p.H1035P		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1035					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTGTCCCCCCACCCCACAAAG	0.587																																						dbGAP											0													69.0	66.0	67.0					19																	47884194		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3104A>C	19.37:g.47884194A>C	ENSP00000331907:p.His1035Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1035P	ENST00000328771.4	37	c.3104	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548175	0.65311	.	.	ENSG00000134815	ENST00000328771	T	0.02890	4.12	4.2	4.2	0.49525	.	0.326388	0.25458	N	0.030529	T	0.08313	0.0207	L	0.49126	1.545	0.39368	D	0.96604	D	0.67145	0.996	P	0.57548	0.823	T	0.08472	-1.0720	10	0.72032	D	0.01	-45.8945	12.6562	0.56788	1.0:0.0:0.0:0.0	.	1035	Q14147	DHX34_HUMAN	P	1035	ENSP00000331907:H1035P	ENSP00000331907:H1035P	H	+	2	0	DHX34	52576025	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.441000	0.80485	1.887000	0.54652	0.459000	0.35465	CAC	DHX34	-	NULL	ENSG00000134815		0.587	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	37	0.00	0	A	NM_014681		47884194	47884194	+1	no_errors	ENST00000328771	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	1.000	C
DHX8	1659	genome.wustl.edu	37	17	41570820	41570820	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:41570820T>G	ENST00000262415.3	+	7	943	c.871T>G	c.(871-873)Tgg>Ggg	p.W291G	DHX8_ENST00000540306.1_Missense_Mutation_p.W291G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	291	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CAGGAAGCGGTGGGAAGGCCT	0.507																																					NSCLC(56;1548 1661 49258 49987)	dbGAP											0													96.0	93.0	94.0					17																	41570820		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.871T>G	17.37:g.41570820T>G	ENSP00000262415:p.Trp291Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W291G	ENST00000262415.3	37	c.871	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417107	0.25552	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.40476	1.03;1.03	5.39	4.24	0.50183	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.04508	-0.205	0.80722	D	1	B;B	0.26363	0.147;0.0	B;B	0.28385	0.089;0.001	T	0.08785	-1.0705	10	0.26408	T	0.33	.	10.5539	0.45105	0.1443:0.0:0.0:0.8557	.	291;291	F5H658;Q14562	.;DHX8_HUMAN	G	291	ENSP00000437886:W291G;ENSP00000262415:W291G	ENSP00000262415:W291G	W	+	1	0	DHX8	38926346	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.490000	0.81461	2.043000	0.60533	0.533000	0.62120	TGG	DHX8	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000067596		0.507	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	108	0.92	1	T			41570820	41570820	+1	no_errors	ENST00000262415	ensembl	human	known	69_37n	missense	114	25.81	40	SNP	1.000	G
DIAPH1	1729	genome.wustl.edu	37	5	140960328	140960328	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140960328T>G	ENST00000398557.4	-	8	947	c.807A>C	c.(805-807)ctA>ctC	p.L269L	DIAPH1_ENST00000520569.1_Silent_p.L215L|DIAPH1_ENST00000389057.5_Silent_p.L260L|DIAPH1_ENST00000398562.2_Silent_p.L260L|DIAPH1_ENST00000518047.1_Silent_p.L260L|DIAPH1_ENST00000389054.3_Silent_p.L269L|DIAPH1_ENST00000253811.6_Silent_p.L269L|DIAPH1_ENST00000398566.3_Silent_p.L260L	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	269	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTGCGGTAGAATACAAA	0.418																																						dbGAP											0													108.0	104.0	105.0					5																	140960328		1912	4137	6049	-	-	-	SO:0001819	synonymous_variant	0			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.807A>C	5.37:g.140960328T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.L269	ENST00000398557.4	37	c.807	CCDS43374.1	5																																																																																			DIAPH1	-	superfamily_ARM-type_fold	ENSG00000131504		0.418	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		230	0.00	0	T	NM_005219		140960328	140960328	-1	no_errors	ENST00000253811	ensembl	human	known	69_37n	silent	180	12.98	27	SNP	0.989	G
DLEC1	9940	genome.wustl.edu	37	3	38158352	38158352	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:38158352A>C	ENST00000308059.6	+	29	4172	c.4151A>C	c.(4150-4152)cAc>cCc	p.H1384P	DLEC1_ENST00000346219.3_Missense_Mutation_p.H1384P|DLEC1_ENST00000452631.2_Missense_Mutation_p.H1387P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCTCCGGCCACCTGTACTGT	0.612																																						dbGAP											0													40.0	41.0	41.0					3																	38158352		2044	4197	6241	-	-	-	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4151A>C	3.37:g.38158352A>C	ENSP00000308597:p.His1384Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_PapD-like	p.H1384P	ENST00000308059.6	37	c.4151	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356130	0.24598	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04970	3.54;3.52;3.76	4.48	-1.14	0.09741	.	0.675457	0.14366	N	0.324109	T	0.06554	0.0168	L	0.57536	1.79	0.09310	N	1	B;P;B;B	0.42620	0.353;0.785;0.353;0.353	B;B;B;B	0.41813	0.135;0.367;0.135;0.135	T	0.23332	-1.0191	10	0.38643	T	0.18	-4.9519	3.1782	0.06576	0.4704:0.0:0.2541:0.2755	.	1387;1384;1384;1384	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	P	1384;1384;1387	ENSP00000308597:H1384P;ENSP00000315914:H1384P;ENSP00000410427:H1387P	ENSP00000308597:H1384P	H	+	2	0	DLEC1	38133356	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.038000	0.12144	-0.120000	0.11809	-0.609000	0.04063	CAC	DLEC1	-	NULL	ENSG00000008226		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	93	0.00	0	A	NM_007337		38158352	38158352	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	0.005	C
DLG1	1739	genome.wustl.edu	37	3	196863524	196863524	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:196863524A>C	ENST00000419354.1	-	11	1294	c.1008T>G	c.(1006-1008)ggT>ggG	p.G336G	DLG1_ENST00000422288.1_Silent_p.G285G|DLG1_ENST00000392382.2_Silent_p.G303G|DLG1_ENST00000450955.1_Silent_p.G303G|DLG1_ENST00000357674.4_Silent_p.G303G|DLG1_ENST00000346964.2_Silent_p.G336G|DLG1_ENST00000443183.1_Silent_p.G220G|DLG1_ENST00000314062.3_Silent_p.G285G|DLG1_ENST00000448528.2_Silent_p.G336G|DLG1_ENST00000452595.1_Silent_p.G220G			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	336	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GATTTCCAACACCTCCAGCAA	0.383																																						dbGAP											0													145.0	132.0	137.0					3																	196863524		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1008T>G	3.37:g.196863524A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Silent	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G336	ENST00000419354.1	37	c.1008	CCDS43194.1	3																																																																																			DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.383	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	243	0.00	0	A	NM_004087		196863524	196863524	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	silent	206	17.20	43	SNP	1.000	C
DMBT1	1755	genome.wustl.edu	37	10	124339124	124339124	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:124339124T>G	ENST00000338354.3	+	10	816	c.710T>G	c.(709-711)gTg>gGg	p.V237G	DMBT1_ENST00000368955.3_Missense_Mutation_p.V237G|DMBT1_ENST00000368909.3_Missense_Mutation_p.V237G|DMBT1_ENST00000330163.4_Missense_Mutation_p.V237G|DMBT1_ENST00000368956.2_Missense_Mutation_p.V237G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.V237G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	237	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGAGGCTGGTGAATGGAGGC	0.537																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													341.0	325.0	330.0					10																	124339124		1987	4175	6162	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.710T>G	10.37:g.124339124T>G	ENSP00000342210:p.Val237Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.V237G	ENST00000338354.3	37	c.710		10	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574084	0.45902	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	3.96	2.82	0.32997	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.73814	0.3635	H	0.98111	4.15	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.983;0.993;1.0	D;D;P;D;D	0.97110	0.939;0.999;0.755;0.918;1.0	T	0.77387	-0.2607	9	0.72032	D	0.01	.	9.1401	0.36899	0.0:0.0887:0.0:0.9113	.	237;237;237;237;237	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	G	237	ENSP00000342210:V237G;ENSP00000343175:V237G;ENSP00000327747:V237G;ENSP00000357905:V237G;ENSP00000357951:V237G;ENSP00000357952:V237G	ENSP00000331522:V237G	V	+	2	0	DMBT1	124329114	1.000000	0.71417	0.821000	0.32701	0.316000	0.28119	2.846000	0.48262	0.535000	0.28714	0.438000	0.28831	GTG	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000187908		0.537	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	256	0.39	1	T	NM_004406		124339124	124339124	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	173	17.14	36	SNP	1.000	G
DMBT1	1755	genome.wustl.edu	37	10	124358320	124358320	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:124358320T>G	ENST00000338354.3	+	26	3093	c.2987T>G	c.(2986-2988)gTg>gGg	p.V996G	DMBT1_ENST00000368955.3_Missense_Mutation_p.V986G|DMBT1_ENST00000368909.3_Missense_Mutation_p.V996G|DMBT1_ENST00000330163.4_Missense_Mutation_p.V497G|DMBT1_ENST00000368956.2_Missense_Mutation_p.V497G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.V986G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	996	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGAGGCTGGTGAATGGAGGT	0.537																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													323.0	315.0	318.0					10																	124358320		1969	4161	6130	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2987T>G	10.37:g.124358320T>G	ENSP00000342210:p.Val996Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.V996G	ENST00000338354.3	37	c.2987		10	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772110	0.69992	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	3.74	1.23	0.21249	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.64011	0.2560	M	0.93854	3.465	0.80722	D	1	D;D;D;D	0.67145	0.991;0.996;0.986;0.989	P;D;P;P	0.63192	0.895;0.912;0.812;0.882	T	0.61686	-0.7012	9	0.87932	D	0	.	4.785	0.13220	0.1387:0.1675:0.0:0.6938	.	996;497;986;996	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	G	996;996;996;996;996;996;497;986;497;497;996;986;497	ENSP00000342210:V996G;ENSP00000343175:V986G;ENSP00000327747:V497G;ENSP00000357905:V996G;ENSP00000357951:V986G;ENSP00000357952:V497G	ENSP00000331522:V497G	V	+	2	0	DMBT1	124348310	0.145000	0.22656	0.736000	0.30914	0.582000	0.36321	0.395000	0.20850	0.014000	0.14944	0.456000	0.33151	GTG	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000187908		0.537	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	321	0.31	1	T	NM_004406		124358320	124358320	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	243	19.74	60	SNP	0.880	G
DMBT1	1755	genome.wustl.edu	37	10	124380603	124380603	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:124380603T>G	ENST00000338354.3	+	41	5034	c.4928T>G	c.(4927-4929)gTg>gGg	p.V1643G	DMBT1_ENST00000368955.3_Missense_Mutation_p.V1633G|DMBT1_ENST00000368909.3_Missense_Mutation_p.V1643G|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1015G|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1015G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.V1633G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1643	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGAGGCTGGTGAATGGAGGT	0.517																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													281.0	272.0	275.0					10																	124380603		1988	4185	6173	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4928T>G	10.37:g.124380603T>G	ENSP00000342210:p.Val1643Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.V1772G	ENST00000338354.3	37	c.5315		10	.	.	.	.	.	.	.	.	.	.	-	11.06	1.529074	0.27387	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	3.79	3.79	0.43588	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.431022	0.16779	U	0.199900	T	0.70491	0.3230	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.992;0.964;1.0	D;D;D;P;D	0.83275	0.987;0.979;0.951;0.625;0.996	T	0.73248	-0.4043	10	0.66056	D	0.02	.	5.4661	0.16644	0.0:0.0982:0.1761:0.7257	.	892;1772;1015;1633;1643	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	G	1643;1772;1643;1643;1643;1643;1015;1633;1015;1015;1643;1633;1015	ENSP00000342210:V1643G;ENSP00000343175:V1633G;ENSP00000327747:V1015G;ENSP00000357905:V1643G;ENSP00000357951:V1633G;ENSP00000357952:V1015G	ENSP00000331522:V1015G	V	+	2	0	DMBT1	124370593	0.906000	0.30813	1.000000	0.80357	0.012000	0.07955	1.371000	0.34250	1.681000	0.50988	0.378000	0.23410	GTG	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000187908		0.517	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	249	0.79	2	T	NM_004406		124380603	124380603	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	175	19.72	43	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	32305721	32305721	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:32305721A>C	ENST00000357033.4	-	43	6421	c.6215T>G	c.(6214-6216)gTg>gGg	p.V2072G	DMD_ENST00000378677.2_Missense_Mutation_p.V2068G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2072					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGTAGCTTCACCCTTTCCAC	0.408																																						dbGAP											0													163.0	134.0	144.0					X																	32305721		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6215T>G	X.37:g.32305721A>C	ENSP00000354923:p.Val2072Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.V2072G	ENST00000357033.4	37	c.6215	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	0.072	-1.200877	0.01581	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49432	0.78;0.78	4.36	-0.746	0.11095	.	0.642265	0.11185	U	0.590577	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.22983	0.004;0.012;0.005;0.078;0.078	B;B;B;B;B	0.23018	0.01;0.023;0.017;0.043;0.029	T	0.20974	-1.0259	10	0.23891	T	0.37	.	5.5888	0.17289	0.5272:0.0:0.3345:0.1383	.	2064;2072;2068;731;728	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	G	2064;731;728;2068;2072;2072;1949	ENSP00000367948:V2068G;ENSP00000354923:V2072G	ENSP00000354923:V2072G	V	-	2	0	DMD	32215642	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.114000	0.10757	-0.469000	0.06911	-0.287000	0.09952	GTG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	125	0.00	0	A	NM_004006		32305721	32305721	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	94	13.64	15	SNP	0.000	C
DMRT2	10655	genome.wustl.edu	37	9	1056880	1056880	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:1056880A>C	ENST00000358146.2	+	3	1293	c.1293A>C	c.(1291-1293)ccA>ccC	p.P431P	DMRT2_ENST00000382251.3_Silent_p.P431P|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Silent_p.P431P			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	431					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGTTCTCCCCACCCCGACGGA	0.567																																						dbGAP											0													116.0	110.0	112.0					9																	1056880		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1293A>C	9.37:g.1056880A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P431	ENST00000358146.2	37	c.1293	CCDS6444.1	9																																																																																			DMRT2	-	NULL	ENSG00000173253		0.567	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	293	0.00	0	A	NM_006557		1056880	1056880	+1	no_errors	ENST00000302441	ensembl	human	known	69_37n	silent	222	13.85	36	SNP	0.890	C
DMRT2	10655	genome.wustl.edu	37	9	1056972	1056972	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:1056972A>C	ENST00000358146.2	+	3	1385	c.1385A>C	c.(1384-1386)cAc>cCc	p.H462P	DMRT2_ENST00000382251.3_Missense_Mutation_p.H462P|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.H462P			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	462					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AACACCAGGCACCCTCTGCCA	0.483																																						dbGAP											0													105.0	103.0	104.0					9																	1056972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1385A>C	9.37:g.1056972A>C	ENSP00000350865:p.His462Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.H462P	ENST00000358146.2	37	c.1385	CCDS6444.1	9	.	.	.	.	.	.	.	.	.	.	A	7.356	0.623806	0.14193	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.22945	1.93;1.93;1.93	5.84	4.68	0.58851	.	0.478933	0.23112	N	0.051792	T	0.14700	0.0355	N	0.15975	0.35	0.31974	N	0.606805	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.14896	-1.0456	10	0.13853	T	0.58	-9.6385	12.5319	0.56120	0.7397:0.2603:0.0:0.0	.	462;306	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	P	462	ENSP00000371686:H462P;ENSP00000305785:H462P;ENSP00000350865:H462P	ENSP00000305785:H462P	H	+	2	0	DMRT2	1046972	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	2.275000	0.43399	0.992000	0.38840	0.528000	0.53228	CAC	DMRT2	-	NULL	ENSG00000173253		0.483	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	245	0.00	0	A	NM_006557		1056972	1056972	+1	no_errors	ENST00000302441	ensembl	human	known	69_37n	missense	160	24.06	51	SNP	1.000	C
DMRTC2	63946	genome.wustl.edu	37	19	42354751	42354751	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:42354751A>C	ENST00000269945.3	+	8	1025	c.974A>C	c.(973-975)cAc>cCc	p.H325P	DMRTC2_ENST00000596827.1_Missense_Mutation_p.H376P	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	325	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCCCTGCTTCACCCCTGTGGC	0.582																																						dbGAP											0													38.0	37.0	38.0					19																	42354751		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.974A>C	19.37:g.42354751A>C	ENSP00000269945:p.His325Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.H325P	ENST00000269945.3	37	c.974	CCDS33034.1	19	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375501	0.61735	.	.	ENSG00000142025	ENST00000269945	T	0.37915	1.17	4.5	4.5	0.54988	.	0.426926	0.20956	N	0.082644	T	0.54382	0.1855	M	0.63428	1.95	0.34295	D	0.683745	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.986	T	0.67352	-0.5692	10	0.66056	D	0.02	-14.5678	10.7608	0.46264	1.0:0.0:0.0:0.0	.	376;325	B4DX56;Q8IXT2	.;DMRTD_HUMAN	P	325	ENSP00000269945:H325P	ENSP00000269945:H325P	H	+	2	0	DMRTC2	47046591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.920000	0.40025	1.992000	0.58205	0.477000	0.44152	CAC	DMRTC2	-	NULL	ENSG00000142025		0.582	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	HGNC	protein_coding	OTTHUMT00000463045.1	86	0.00	0	A	NM_001040283		42354751	42354751	+1	no_errors	ENST00000269945	ensembl	human	known	69_37n	missense	88	20.00	22	SNP	1.000	C
DMXL1	1657	genome.wustl.edu	37	5	118485161	118485161	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:118485161A>C	ENST00000311085.8	+	18	3719	c.3639A>C	c.(3637-3639)ccA>ccC	p.P1213P	DMXL1_ENST00000539542.1_Silent_p.P1213P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1213										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGGCTCCCCACCTTTTCCTG	0.463																																						dbGAP											0													144.0	145.0	145.0					5																	118485161		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3639A>C	5.37:g.118485161A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1213	ENST00000311085.8	37	c.3639	CCDS4125.1	5																																																																																			DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.463	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	284	0.00	0	A	NM_005509		118485161	118485161	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	silent	142	15.38	26	SNP	0.968	C
DMXL1	1657	genome.wustl.edu	37	5	118487625	118487625	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:118487625T>G	ENST00000311085.8	+	19	4676	c.4596T>G	c.(4594-4596)ggT>ggG	p.G1532G	MIR5706_ENST00000579841.1_RNA|DMXL1_ENST00000539542.1_Splice_Site_p.G1532G	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1532										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCATTGCAGGTGGAGAAACTC	0.383																																						dbGAP											0													149.0	137.0	141.0					5																	118487625		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4595-1T>G	5.37:g.118487625T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1532	ENST00000311085.8	37	c.4596	CCDS4125.1	5																																																																																			DMXL1	-	pfam_Rav1p_C	ENSG00000172869		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	196	0.51	1	T	NM_005509	Silent	118487625	118487625	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	silent	121	15.28	22	SNP	1.000	G
DMXL2	23312	genome.wustl.edu	37	15	51837848	51837848	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:51837848T>G	ENST00000251076.5	-	8	1149	c.862A>C	c.(862-864)Act>Cct	p.T288P	DMXL2_ENST00000543779.2_Missense_Mutation_p.T288P|DMXL2_ENST00000560421.1_5'Flank|DMXL2_ENST00000449909.3_Missense_Mutation_p.T288P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	288						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGCTGGAAGTGGTAGTCTCA	0.408																																						dbGAP											0													140.0	141.0	141.0					15																	51837848		2195	4293	6488	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.862A>C	15.37:g.51837848T>G	ENSP00000251076:p.Thr288Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T288P	ENST00000251076.5	37	c.862	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	6.682	0.494336	0.12702	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.24350	2.01;2.01;1.86	5.96	4.82	0.62117	.	0.222920	0.46145	N	0.000304	T	0.27098	0.0664	L	0.33485	1.01	0.22858	N	0.998648	P;B;P	0.44478	0.709;0.006;0.836	P;B;P	0.46975	0.533;0.003;0.47	T	0.05989	-1.0852	10	0.48119	T	0.1	.	13.446	0.61140	0.0:0.0:0.1308:0.8692	.	288;288;288	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	P	288	ENSP00000251076:T288P;ENSP00000441858:T288P;ENSP00000400855:T288P	ENSP00000251076:T288P	T	-	1	0	DMXL2	49625140	1.000000	0.71417	0.997000	0.53966	0.013000	0.08279	4.913000	0.63341	1.063000	0.40649	-0.313000	0.08912	ACT	DMXL2	-	NULL	ENSG00000104093		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	333	0.30	1	T	NM_015263		51837848	51837848	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	253	10.92	31	SNP	0.979	G
DNAH1	25981	genome.wustl.edu	37	3	52405972	52405972	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52405972T>G	ENST00000420323.2	+	42	6797	c.6536T>G	c.(6535-6537)gTg>gGg	p.V2179G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2179					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGCCTGGGTGAAGTGGATG	0.587																																						dbGAP											0													123.0	126.0	125.0					3																	52405972		2071	4205	6276	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6536T>G	3.37:g.52405972T>G	ENSP00000401514:p.Val2179Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.V2179G	ENST00000420323.2	37	c.6536	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	T	13.18	2.161297	0.38119	.	.	ENSG00000114841	ENST00000420323	T	0.24538	1.85	4.55	4.55	0.56014	.	0.648282	0.12533	N	0.460576	T	0.38957	0.1060	M	0.85859	2.78	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.24693	-1.0153	10	0.22706	T	0.39	.	9.1989	0.37246	0.2076:0.0:0.0:0.7924	.	2179	C9JXH6	.	G	2179	ENSP00000401514:V2179G	ENSP00000401514:V2179G	V	+	2	0	DNAH1	52381012	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.452000	0.44961	1.696000	0.51158	0.383000	0.25322	GTG	DNAH1	-	NULL	ENSG00000114841		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	45	0.00	0	T	NM_015512		52405972	52405972	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	G
DNAH10	196385	genome.wustl.edu	37	12	124325927	124325927	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:124325927T>G	ENST00000409039.3	+	29	4866	c.4841T>G	c.(4840-4842)gTg>gGg	p.V1614G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1614	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAAAACTGGTGTCCGCGATG	0.517																																						dbGAP											0													237.0	237.0	237.0					12																	124325927		2022	4172	6194	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4841T>G	12.37:g.124325927T>G	ENSP00000386770:p.Val1614Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.V1614G	ENST00000409039.3	37	c.4841	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271074	0.40194	.	.	ENSG00000197653	ENST00000409039	T	0.64260	-0.09	5.23	2.87	0.33458	Dynein heavy chain, domain-2 (1);	0.082272	0.48767	U	0.000162	T	0.70369	0.3216	M	0.63843	1.955	0.49915	D	0.999835	D	0.56746	0.977	P	0.62560	0.904	T	0.68187	-0.5475	10	0.56958	D	0.05	.	8.5766	0.33603	0.0:0.3701:0.0:0.6299	.	1614	Q8IVF4	DYH10_HUMAN	G	1614	ENSP00000386770:V1614G	ENSP00000386770:V1614G	V	+	2	0	DNAH10	122891880	0.865000	0.29922	0.583000	0.28640	0.197000	0.23852	1.484000	0.35508	0.335000	0.23614	0.459000	0.35465	GTG	DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	171	0.58	1	T			124325927	124325927	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	153	15.00	27	SNP	0.489	G
DNAH10	196385	genome.wustl.edu	37	12	124330672	124330672	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:124330672A>C	ENST00000409039.3	+	31	5456	c.5431A>C	c.(5431-5433)Acc>Ccc	p.T1811P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1811	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACGCCCCTCACCGATCGGAT	0.597																																						dbGAP											0													51.0	53.0	52.0					12																	124330672		2007	4154	6161	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5431A>C	12.37:g.124330672A>C	ENSP00000386770:p.Thr1811Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T1811P	ENST00000409039.3	37	c.5431	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672446	0.88348	.	.	ENSG00000197653	ENST00000409039	T	0.39997	1.05	5.46	5.46	0.80206	.	0.154081	0.42821	U	0.000650	T	0.76392	0.3981	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85137	0.0978	10	0.87932	D	0	.	15.5238	0.75885	1.0:0.0:0.0:0.0	.	1811	Q8IVF4	DYH10_HUMAN	P	1811	ENSP00000386770:T1811P	ENSP00000386770:T1811P	T	+	1	0	DNAH10	122896625	1.000000	0.71417	0.208000	0.23602	0.887000	0.51463	9.229000	0.95273	2.061000	0.61500	0.459000	0.35465	ACC	DNAH10	-	NULL	ENSG00000197653		0.597	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	68	0.00	0	A			124330672	124330672	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	83	17.48	18	SNP	0.998	C
DNAH10	196385	genome.wustl.edu	37	12	124337866	124337866	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:124337866T>G	ENST00000409039.3	+	35	6076	c.6051T>G	c.(6049-6051)ggT>ggG	p.G2017G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2017					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATGGCTGGTGAGCTGAAGA	0.537																																						dbGAP											0													42.0	46.0	45.0					12																	124337866		2011	4186	6197	-	-	-	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6051T>G	12.37:g.124337866T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.G2017	ENST00000409039.3	37	c.6051	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	15	0.00	0	T			124337866	124337866	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	silent	18	25.00	6	SNP	0.010	G
DNAH11	8701	genome.wustl.edu	37	7	21631112	21631112	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:21631112A>C	ENST00000409508.3	+	14	2615	c.2584A>C	c.(2584-2586)Acc>Ccc	p.T862P	DNAH11_ENST00000328843.6_Missense_Mutation_p.T862P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	862	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCAGCCTTCACCTTGGAGGA	0.507									Kartagener syndrome																													dbGAP											0													40.0	44.0	43.0					7																	21631112		2010	4152	6162	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2584A>C	7.37:g.21631112A>C	ENSP00000475939:p.Thr862Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T862P	ENST00000409508.3	37	c.2584		7	.	.	.	.	.	.	.	.	.	.	A	3.007	-0.204707	0.06180	.	.	ENSG00000105877	ENST00000328843	T	0.23552	1.9	5.63	-1.41	0.08941	.	1.431370	0.03866	N	0.274805	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.24533	0.105	B	0.20384	0.029	T	0.22765	-1.0207	9	0.30854	T	0.27	.	5.8486	0.18679	0.5645:0.2337:0.2018:0.0	.	862	Q96DT5	DYH11_HUMAN	P	862	ENSP00000330671:T862P	ENSP00000330671:T862P	T	+	1	0	DNAH11	21597637	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.563000	0.23547	-0.167000	0.10871	-0.488000	0.04728	ACC	DNAH11	-	NULL	ENSG00000105877		0.507	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	100	0.00	0	A	NM_003777		21631112	21631112	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	0.000	C
DNAH11	8701	genome.wustl.edu	37	7	21932164	21932164	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:21932164A>C	ENST00000409508.3	+	77	12660	c.12629A>C	c.(12628-12630)cAc>cCc	p.H4210P	DNAH11_ENST00000328843.6_Missense_Mutation_p.H4217P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4217					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATGGCCTCCACCCAAATGCT	0.512									Kartagener syndrome																													dbGAP											0													106.0	105.0	105.0					7																	21932164		1939	4130	6069	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12629A>C	7.37:g.21932164A>C	ENSP00000475939:p.His4210Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H4217P	ENST00000409508.3	37	c.12650		7	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605500	0.87157	.	.	ENSG00000105877	ENST00000328843	T	0.09350	2.99	5.97	5.97	0.96955	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10660	-1.0620	9	0.87932	D	0	.	16.1238	0.81380	1.0:0.0:0.0:0.0	.	4217	Q96DT5	DYH11_HUMAN	P	4217	ENSP00000330671:H4217P	ENSP00000330671:H4217P	H	+	2	0	DNAH11	21898689	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.497000	0.81536	2.288000	0.76882	0.533000	0.62120	CAC	DNAH11	-	pfam_Dynein_heavy	ENSG00000105877		0.512	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	179	0.00	0	A	NM_003777		21932164	21932164	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	168	15.15	30	SNP	1.000	C
DNAH2	146754	genome.wustl.edu	37	17	7663178	7663178	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7663178A>C	ENST00000572933.1	+	17	4167	c.2707A>C	c.(2707-2709)Acc>Ccc	p.T903P	DNAH2_ENST00000389173.2_Missense_Mutation_p.T903P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	903	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTTTCCACCATCTCTGT	0.532																																						dbGAP											0													299.0	269.0	279.0					17																	7663178		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2707A>C	17.37:g.7663178A>C	ENSP00000458355:p.Thr903Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.T903P	ENST00000572933.1	37	c.2707	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	A	9.662	1.144409	0.21205	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23950	1.88	5.35	4.24	0.50183	.	0.296229	0.30118	N	0.010367	T	0.24044	0.0582	L	0.50333	1.59	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.02901	-1.1096	10	0.41790	T	0.15	.	10.6057	0.45392	0.8556:0.0:0.0:0.1444	.	903	Q9P225	DYH2_HUMAN	P	903	ENSP00000373825:T903P	ENSP00000353818:T903P	T	+	1	0	DNAH2	7603903	1.000000	0.71417	0.998000	0.56505	0.332000	0.28634	3.644000	0.54381	0.838000	0.34948	0.402000	0.26972	ACC	DNAH2	-	NULL	ENSG00000183914		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	266	0.00	0	A	NM_020877		7663178	7663178	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	172	20.37	44	SNP	1.000	C
DNAH2	146754	genome.wustl.edu	37	17	7720735	7720735	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7720735T>G	ENST00000572933.1	+	65	11480		c.e65+2		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGGGAAGGTGAGATGGGAC	0.582																																						dbGAP											0													95.0	102.0	99.0					17																	7720735		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10020+2T>G	17.37:g.7720735T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	-	e64+2	ENST00000572933.1	37	c.10020+2	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638209	0.47153	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2934	0.54831	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH2	7661460	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	4.455000	0.60075	2.093000	0.63338	0.455000	0.32223	.	DNAH2	-	-	ENSG00000183914		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	245	0.00	0	T	NM_020877	Intron	7720735	7720735	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	splice_site	154	15.30	28	SNP	1.000	G
DNAH2	146754	genome.wustl.edu	37	17	7727153	7727153	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7727153T>G	ENST00000572933.1	+	75	12791	c.11331T>G	c.(11329-11331)ggT>ggG	p.G3777G	DNAH2_ENST00000389173.2_Splice_Site_p.G3777G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3777					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATCCCCAGGTGAGTGGGAAA	0.597																																						dbGAP											0													73.0	67.0	69.0					17																	7727153		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11330-1T>G	17.37:g.7727153T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.G3777	ENST00000572933.1	37	c.11331	CCDS32551.1	17																																																																																			DNAH2	-	pfam_Dynein_heavy	ENSG00000183914		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	107	0.00	0	T	NM_020877	Silent	7727153	7727153	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	silent	129	13.91	21	SNP	1.000	G
DNAH17	8632	genome.wustl.edu	37	17	76471472	76471472	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:76471472A>C	ENST00000585328.1	-	54	8508	c.8384T>G	c.(8383-8385)gTg>gGg	p.V2795G	DNAH17_ENST00000389840.5_Missense_Mutation_p.V2786G|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2786	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCACCCCCACCAGCAGGGC	0.612																																						dbGAP											0													57.0	62.0	60.0					17																	76471472		2058	4205	6263	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8384T>G	17.37:g.76471472A>C	ENSP00000465516:p.Val2795Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.V2786G	ENST00000585328.1	37	c.8357		17	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537341	0.85812	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56776	0.44	4.72	4.72	0.59763	.	.	.	.	.	D	0.82683	0.5090	H	0.98612	4.28	0.80722	D	1	.	.	.	.	.	.	D	0.89424	0.3712	7	0.87932	D	0	.	14.2064	0.65737	1.0:0.0:0.0:0.0	.	.	.	.	G	2795;2786	ENSP00000374490:V2786G	ENSP00000300671:V2795G	V	-	2	0	DNAH17	73983067	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.136000	0.94489	1.771000	0.52183	0.397000	0.26171	GTG	DNAH17	-	NULL	ENSG00000187775		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	64	0.00	0	A	NM_173628		76471472	76471472	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	1.000	C
DNAH3	55567	genome.wustl.edu	37	16	20975299	20975299	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:20975299T>G	ENST00000261383.3	-	53	9906	c.9907A>C	c.(9907-9909)Acc>Ccc	p.T3303P	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3303					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGAAGATGGTGGCAGAATGC	0.483																																						dbGAP											0													109.0	108.0	108.0					16																	20975299		2201	4300	6501	-	-	-	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9907A>C	16.37:g.20975299T>G	ENSP00000261383:p.Thr3303Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.T3303P	ENST00000261383.3	37	c.9907	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	T	6.288	0.421253	0.11928	.	.	ENSG00000158486	ENST00000261383	T	0.53423	0.62	5.93	1.16	0.20824	.	0.404061	0.26146	N	0.026068	T	0.38348	0.1037	L	0.61036	1.89	0.80722	D	1	P	0.39131	0.661	B	0.34991	0.193	T	0.15694	-1.0428	10	0.87932	D	0	.	6.2844	0.21025	0.0:0.2819:0.1226:0.5955	.	3303	Q8TD57	DYH3_HUMAN	P	3303	ENSP00000261383:T3303P	ENSP00000261383:T3303P	T	-	1	0	DNAH3	20882800	1.000000	0.71417	0.239000	0.24122	0.067000	0.16453	3.485000	0.53208	-0.064000	0.13043	-0.461000	0.05368	ACC	DNAH3	-	NULL	ENSG00000158486		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	265	0.75	2	T	NM_017539		20975299	20975299	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	263	11.07	33	SNP	0.997	G
DNAH6	1768	genome.wustl.edu	37	2	84777118	84777118	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:84777118A>C	ENST00000237449.6	+	8	1430	c.1422A>C	c.(1420-1422)acA>acC	p.T474T	DNAH6_ENST00000398278.2_Silent_p.T474T|DNAH6_ENST00000389394.3_Silent_p.T474T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	474	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAAAACGAACACCTTCAGCAG	0.358																																						dbGAP											0													93.0	83.0	86.0					2																	84777118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1422A>C	2.37:g.84777118A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T474	ENST00000237449.6	37	c.1422	CCDS46348.1	2																																																																																			DNAH6	-	NULL	ENSG00000115423		0.358	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	113	0.00	0	A	NM_001370		84777118	84777118	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	silent	97	14.78	17	SNP	1.000	C
DNAH7	56171	genome.wustl.edu	37	2	196720640	196720640	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:196720640A>C	ENST00000312428.6	-	45	8590	c.8490T>G	c.(8488-8490)ggT>ggG	p.G2830G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2830	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTTCTAAGACCATCCATGG	0.408																																						dbGAP											0													231.0	223.0	225.0					2																	196720640		1852	4088	5940	-	-	-	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8490T>G	2.37:g.196720640A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.G2830	ENST00000312428.6	37	c.8490	CCDS42794.1	2																																																																																			DNAH7	-	superfamily_Signal_recog_particle_SRP9/14	ENSG00000118997		0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	585	0.34	2	A	NM_018897		196720640	196720640	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	silent	340	11.46	44	SNP	0.953	C
DNAH7	56171	genome.wustl.edu	37	2	196720662	196720662	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:196720662T>C	ENST00000312428.6	-	45	8568	c.8468A>G	c.(8467-8469)gAg>gGg	p.E2823G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2823	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATTTTAAGCTCCCCTTCAGC	0.378																																						dbGAP											0													204.0	198.0	200.0					2																	196720662		1839	4080	5919	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8468A>G	2.37:g.196720662T>C	ENSP00000311273:p.Glu2823Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.E2823G	ENST00000312428.6	37	c.8468	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519801	0.64634	.	.	ENSG00000118997	ENST00000312428	T	0.78003	-1.14	5.31	5.31	0.75309	Dynein heavy chain, coiled coil stalk (1);	0.054294	0.64402	D	0.000001	D	0.86781	0.6015	M	0.93375	3.41	0.80722	D	1	B	0.27166	0.17	B	0.39339	0.297	D	0.87318	0.2316	10	0.59425	D	0.04	.	15.43	0.75084	0.0:0.0:0.0:1.0	.	2823	Q8WXX0	DYH7_HUMAN	G	2823	ENSP00000311273:E2823G	ENSP00000311273:E2823G	E	-	2	0	DNAH7	196428907	0.971000	0.33674	1.000000	0.80357	0.905000	0.53344	2.022000	0.41030	2.231000	0.72958	0.455000	0.32223	GAG	DNAH7	-	superfamily_Signal_recog_particle_SRP9/14	ENSG00000118997		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	603	0.33	2	T	NM_018897		196720662	196720662	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	347	10.08	39	SNP	0.998	C
DNAH7	56171	genome.wustl.edu	37	2	196825287	196825287	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:196825287T>G	ENST00000312428.6	-	18	2688	c.2588A>C	c.(2587-2589)tAc>tCc	p.Y863S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	863	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCAAAGGGTAACCAACAAT	0.463																																						dbGAP											0													116.0	115.0	115.0					2																	196825287		1915	4127	6042	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2588A>C	2.37:g.196825287T>G	ENSP00000311273:p.Tyr863Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Y863S	ENST00000312428.6	37	c.2588	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	7.181	0.589580	0.13812	.	.	ENSG00000118997	ENST00000312428	T	0.59638	0.25	5.64	3.19	0.36642	Dynein heavy chain, domain-2 (1);	0.391238	0.25572	N	0.029746	T	0.48003	0.1476	L	0.48642	1.525	0.21325	N	0.999724	B	0.30114	0.269	B	0.31495	0.131	T	0.29488	-1.0010	10	0.25106	T	0.35	.	10.7059	0.45954	0.3836:0.0:0.0:0.6164	.	863	Q8WXX0	DYH7_HUMAN	S	863	ENSP00000311273:Y863S	ENSP00000311273:Y863S	Y	-	2	0	DNAH7	196533532	0.081000	0.21417	0.947000	0.38551	0.215000	0.24574	0.013000	0.13310	0.375000	0.24679	-0.480000	0.04831	TAC	DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.463	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	332	0.59	2	T	NM_018897		196825287	196825287	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	196	13.66	31	SNP	0.165	G
DNAH7	56171	genome.wustl.edu	37	2	196825383	196825383	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:196825383A>C	ENST00000312428.6	-	18	2592	c.2492T>G	c.(2491-2493)gTg>gGg	p.V831G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	831	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCTTCCACCTTTGATCT	0.423																																						dbGAP											0													166.0	163.0	164.0					2																	196825383		1912	4123	6035	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2492T>G	2.37:g.196825383A>C	ENSP00000311273:p.Val831Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.V831G	ENST00000312428.6	37	c.2492	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994167	0.54041	.	.	ENSG00000118997	ENST00000312428	T	0.65916	-0.18	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.93594	3.435	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.88496	0.3079	10	0.87932	D	0	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	831	Q8WXX0	DYH7_HUMAN	G	831	ENSP00000311273:V831G	ENSP00000311273:V831G	V	-	2	0	DNAH7	196533628	1.000000	0.71417	0.995000	0.50966	0.133000	0.20885	7.510000	0.81708	2.187000	0.69744	0.528000	0.53228	GTG	DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.423	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	300	0.66	2	A	NM_018897		196825383	196825383	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	182	14.08	30	SNP	1.000	C
DNAH8	1769	genome.wustl.edu	37	6	38813405	38813405	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:38813405T>G	ENST00000359357.3	+	34	4504	c.4250T>G	c.(4249-4251)gTg>gGg	p.V1417G	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1417G|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1634G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1417					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGACTCAGGTGATTGAGAAT	0.398																																						dbGAP											0													97.0	90.0	92.0					6																	38813405		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4250T>G	6.37:g.38813405T>G	ENSP00000352312:p.Val1417Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V1417G	ENST00000359357.3	37	c.4250		6	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681305	0.88542	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64991	-0.13;-0.13;-0.13	5.53	5.53	0.82687	Dynein heavy chain, domain-2 (1);	0.067810	0.56097	D	0.000024	T	0.82121	0.4968	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.87660	0.2534	10	0.87932	D	0	.	15.6557	0.77133	0.0:0.0:0.0:1.0	.	1417	Q96JB1	DYH8_HUMAN	G	1622;1622;1417;1417	ENSP00000333363:V1622G;ENSP00000352312:V1417G;ENSP00000402294:V1417G	ENSP00000333363:V1622G	V	+	2	0	DNAH8	38921383	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.917000	0.87498	2.105000	0.64084	0.528000	0.53228	GTG	DNAH8	-	pfam_Dynein_heavy_dom-2	ENSG00000124721		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	183	0.00	0	T	NM_001206927		38813405	38813405	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	90	24.79	30	SNP	0.997	G
DNAH8	1769	genome.wustl.edu	37	6	38840464	38840464	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:38840464A>C	ENST00000359357.3	+	48	6746	c.6492A>C	c.(6490-6492)gcA>gcC	p.A2164A	DNAH8_ENST00000441566.1_Silent_p.A2128A|DNAH8_ENST00000449981.2_Silent_p.A2381A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2164	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCATTACTGCACCTCAGATGT	0.418																																						dbGAP											0													105.0	100.0	102.0					6																	38840464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6492A>C	6.37:g.38840464A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A2164	ENST00000359357.3	37	c.6492		6																																																																																			DNAH8	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000124721		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	222	0.00	0	A	NM_001206927		38840464	38840464	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	silent	164	12.23	23	SNP	0.007	C
DNAH8	1769	genome.wustl.edu	37	6	38942251	38942251	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:38942251A>C	ENST00000359357.3	+	83	12383	c.12129A>C	c.(12127-12129)ttA>ttC	p.L4043F	DNAH8_ENST00000441566.1_Missense_Mutation_p.L4007F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4043	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTAATTTACCCATGTGGA	0.443																																						dbGAP											0													94.0	86.0	89.0					6																	38942251		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12129A>C	6.37:g.38942251A>C	ENSP00000352312:p.Leu4043Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L4043F	ENST00000359357.3	37	c.12129		6	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643557	0.67244	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08458	3.09;3.09;3.09	5.84	-2.84	0.05751	Dynein heavy chain (1);	0.152257	0.41194	D	0.000931	T	0.13072	0.0317	M	0.85197	2.74	0.38399	D	0.945622	P;P	0.49447	0.907;0.924	P;P	0.52710	0.583;0.707	T	0.15578	-1.0432	10	0.62326	D	0.03	.	16.976	0.86313	0.1826:0.0:0.8174:0.0	.	4007;4043	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	F	4248;4043;4007	ENSP00000333363:L4248F;ENSP00000352312:L4043F;ENSP00000402294:L4007F	ENSP00000333363:L4248F	L	+	3	2	DNAH8	39050229	0.992000	0.36948	0.948000	0.38648	0.989000	0.77384	0.519000	0.22862	-0.724000	0.04908	-0.408000	0.06270	TTA	DNAH8	-	pfam_Dynein_heavy	ENSG00000124721		0.443	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	133	0.75	1	A	NM_001206927		38942251	38942251	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	80	18.37	18	SNP	1.000	C
DNAH9	1770	genome.wustl.edu	37	17	11572997	11572997	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:11572997T>G	ENST00000262442.4	+	17	3307	c.3239T>G	c.(3238-3240)gTg>gGg	p.V1080G	DNAH9_ENST00000454412.2_Missense_Mutation_p.V1080G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1080	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCATCAAGGTGTTTGACGGC	0.468																																						dbGAP											0													138.0	142.0	140.0					17																	11572997		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3239T>G	17.37:g.11572997T>G	ENSP00000262442:p.Val1080Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V1080G	ENST00000262442.4	37	c.3239	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610924	0.46631	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26810	1.75;1.71	4.82	3.74	0.42951	.	0.226096	0.33959	N	0.004389	T	0.37073	0.0990	M	0.83223	2.63	0.39927	D	0.974231	P	0.41910	0.764	P	0.45856	0.495	T	0.24941	-1.0146	10	0.41790	T	0.15	.	9.4915	0.38962	0.0:0.1512:0.0:0.8488	.	1080	Q9NYC9	DYH9_HUMAN	G	1080	ENSP00000262442:V1080G;ENSP00000414874:V1080G	ENSP00000262442:V1080G	V	+	2	0	DNAH9	11513722	0.993000	0.37304	0.626000	0.29213	0.452000	0.32318	4.235000	0.58666	0.780000	0.33566	0.533000	0.62120	GTG	DNAH9	-	NULL	ENSG00000007174		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	292	0.00	0	T	NM_001372		11572997	11572997	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	185	14.22	31	SNP	0.098	G
DNAH9	1770	genome.wustl.edu	37	17	11687788	11687788	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:11687788A>C	ENST00000262442.4	+	41	8061	c.7993A>C	c.(7993-7995)Acc>Ccc	p.T2665P	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2665P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2665	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTGCTACCACCTTCCTACC	0.527																																						dbGAP											0													165.0	156.0	159.0					17																	11687788		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7993A>C	17.37:g.11687788A>C	ENSP00000262442:p.Thr2665Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T2665P	ENST00000262442.4	37	c.7993	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765175	0.49574	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.39787	1.06;1.06	5.56	4.48	0.54585	.	0.173070	0.51477	D	0.000081	T	0.61274	0.2334	M	0.86740	2.835	0.80722	D	1	P	0.52842	0.956	P	0.62649	0.905	T	0.62393	-0.6864	10	0.52906	T	0.07	.	5.2475	0.15504	0.7238:0.0:0.1444:0.1317	.	2665	Q9NYC9	DYH9_HUMAN	P	2665;2665;1247	ENSP00000262442:T2665P;ENSP00000414874:T2665P	ENSP00000262442:T2665P	T	+	1	0	DNAH9	11628513	0.048000	0.20356	0.991000	0.47740	0.639000	0.38242	2.014000	0.40951	0.951000	0.37770	0.523000	0.50628	ACC	DNAH9	-	NULL	ENSG00000007174		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	268	0.74	2	A	NM_001372		11687788	11687788	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	154	23.00	46	SNP	0.997	C
DNAI1	27019	genome.wustl.edu	37	9	34514628	34514628	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:34514628A>C	ENST00000242317.4	+	18	1889					NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCACCCTCCACCTCTGCAGG	0.607									Kartagener syndrome																													dbGAP											0													136.0	129.0	131.0					9																	34514628		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1719-10A>C	9.37:g.34514628A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	RNA	SNP	-	NULL	ENST00000242317.4	37	NULL	CCDS6557.1	9																																																																																			DNAI1	-	-	ENSG00000122735		0.607	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	97	0.00	0	A			34514628	34514628	+1	no_errors	ENST00000485580	ensembl	human	known	69_37n	rna	68	15.48	13	SNP	0.000	C
DNAJA3	9093	genome.wustl.edu	37	16	4498775	4498775	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:4498775T>G	ENST00000262375.6	+	9	1244	c.1167T>G	c.(1165-1167)ggT>ggG	p.G389G	DNAJA3_ENST00000355296.4_Silent_p.G389G|DNAJA3_ENST00000431375.2_Silent_p.G236G	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	389					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTCGGATGGGTGGGAAAGGCA	0.498																																						dbGAP											0													73.0	58.0	63.0					16																	4498775		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1167T>G	16.37:g.4498775T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Silent	SNP	pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.G389	ENST00000262375.6	37	c.1167	CCDS10515.1	16																																																																																			DNAJA3	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000103423		0.498	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1	38	0.00	0	T			4498775	4498775	+1	no_errors	ENST00000262375	ensembl	human	known	69_37n	silent	38	16.67	8	SNP	0.997	G
DNAJB12	54788	genome.wustl.edu	37	10	74104794	74104794	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:74104794A>C	ENST00000444643.2	-	2	557	c.225T>G	c.(223-225)ggT>ggG	p.G75G	DNAJB12_ENST00000394903.2_Silent_p.G109G|DNAJB12_ENST00000461919.1_Intron|DNAJB12_ENST00000338820.3_Silent_p.G109G			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	75						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CATCGGTCCCACCTGCTTTCC	0.592																																						dbGAP											0													169.0	174.0	172.0					10																	74104794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.225T>G	10.37:g.74104794A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7I3|Q9H6H0	Silent	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.G109	ENST00000444643.2	37	c.327		10																																																																																			DNAJB12	-	NULL	ENSG00000148719		0.592	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	107	0.00	0	A			74104794	74104794	-1	no_errors	ENST00000338820	ensembl	human	known	69_37n	silent	81	21.10	23	SNP	0.000	C
DNAJB4	11080	genome.wustl.edu	37	1	78478874	78478874	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:78478874T>G	ENST00000370763.5	+	2	608	c.351T>G	c.(349-351)ggT>ggG	p.G117G	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	117					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GACGAATGGGTGGTGGTAGAG	0.448																																						dbGAP											0													155.0	157.0	157.0					1																	78478874		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.351T>G	1.37:g.78478874T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R824|Q13431	Silent	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.G117	ENST00000370763.5	37	c.351	CCDS684.1	1																																																																																			DNAJB4	-	NULL	ENSG00000162616		0.448	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB4	HGNC	protein_coding	OTTHUMT00000098248.3	269	0.37	1	T			78478874	78478874	+1	no_errors	ENST00000370763	ensembl	human	known	69_37n	silent	180	16.89	37	SNP	0.985	G
DNAJC5B	85479	genome.wustl.edu	37	8	66989076	66989076	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:66989076A>C	ENST00000276570.5	+	4	588	c.301A>C	c.(301-303)Acc>Ccc	p.T101P	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	101						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAACGTTAACACCTACTTCAT	0.443																																						dbGAP											0													147.0	117.0	127.0					8																	66989076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.301A>C	8.37:g.66989076A>C	ENSP00000276570:p.Thr101Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969Y8	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.T101P	ENST00000276570.5	37	c.301	CCDS6183.1	8	.	.	.	.	.	.	.	.	.	.	A	14.35	2.510131	0.44660	.	.	ENSG00000147570	ENST00000276570	T	0.72835	-0.69	5.73	4.58	0.56647	.	0.254420	0.37906	N	0.001888	T	0.66036	0.2749	M	0.65975	2.015	0.38391	D	0.945394	B	0.25007	0.116	B	0.25614	0.062	T	0.63853	-0.6543	10	0.38643	T	0.18	.	8.6791	0.34198	0.8545:0.0:0.1455:0.0	.	101	Q9UF47	DNJ5B_HUMAN	P	101	ENSP00000276570:T101P	ENSP00000276570:T101P	T	+	1	0	DNAJC5B	67151630	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	3.671000	0.54576	1.007000	0.39238	0.533000	0.62120	ACC	DNAJC5B	-	NULL	ENSG00000147570		0.443	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	HGNC	protein_coding	OTTHUMT00000378915.1	216	0.00	0	A	NM_033105		66989076	66989076	+1	no_errors	ENST00000276570	ensembl	human	known	69_37n	missense	169	16.99	35	SNP	0.994	C
DNAJC5G	285126	genome.wustl.edu	37	2	27499638	27499638	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27499638T>G	ENST00000296097.3	+	3	460	c.42T>G	c.(40-42)agT>agG	p.S14R	DNAJC5G_ENST00000406962.1_Missense_Mutation_p.S14R|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.S14R|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.S14R	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	14						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCAAAAGTGAGATGAGCC	0.483																																						dbGAP											0													86.0	85.0	85.0					2																	27499638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.42T>G	2.37:g.27499638T>G	ENSP00000296097:p.Ser14Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S14R	ENST00000296097.3	37	c.42	CCDS1744.1	2	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661481	0.29515	.	.	ENSG00000163793	ENST00000296097;ENST00000420191;ENST00000402462;ENST00000404433;ENST00000406962	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.35	-2.62	0.06152	Heat shock protein DnaJ, N-terminal (1);	2.684650	0.01072	N	0.004830	T	0.20170	0.0485	L	0.31476	0.935	0.19575	N	0.999963	B;B	0.17268	0.021;0.001	B;B	0.12837	0.008;0.004	T	0.18178	-1.0345	10	0.54805	T	0.06	.	0.8564	0.01183	0.1587:0.1986:0.3258:0.3169	.	14;14	B4DY29;Q8N7S2	.;DNJ5G_HUMAN	R	14	ENSP00000296097:S14R;ENSP00000400382:S14R;ENSP00000384305:S14R;ENSP00000385829:S14R;ENSP00000385533:S14R	ENSP00000296097:S14R	S	+	3	2	DNAJC5G	27353142	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.717000	0.04986	-0.413000	0.07507	0.459000	0.35465	AGT	DNAJC5G	-	superfamily_DnaJ_N	ENSG00000163793		0.483	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	DNAJC5G	HGNC	protein_coding	OTTHUMT00000214200.1	71	0.00	0	T	NM_173650		27499638	27499638	+1	no_errors	ENST00000296097	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.014	G
DNAJC6	9829	genome.wustl.edu	37	1	65858515	65858515	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:65858515A>C	ENST00000395325.3	+	12	1856	c.1699A>C	c.(1699-1701)Acc>Ccc	p.T567P	DNAJC6_ENST00000263441.7_Missense_Mutation_p.T554P|DNAJC6_ENST00000371069.4_Missense_Mutation_p.T624P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	567	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.T567fs*16(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGCCACCTCCACCTCTGCGTC	0.522																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											48.0	46.0	47.0					1																	65858515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1699A>C	1.37:g.65858515A>C	ENSP00000378735:p.Thr567Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.T624P	ENST00000395325.3	37	c.1870	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	A	6.733	0.503923	0.12822	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93247	-3.18;-3.18;-3.19	5.5	-3.17	0.05202	.	0.665977	0.14549	N	0.312787	T	0.69169	0.3081	N	0.08118	0	0.24632	N	0.993618	B;B;B	0.17038	0.02;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.61811	-0.6986	10	0.26408	T	0.33	.	11.4921	0.50387	0.1851:0.1323:0.6826:0.0	.	624;567;554	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	P	554;567;624	ENSP00000263441:T554P;ENSP00000378735:T567P;ENSP00000360108:T624P	ENSP00000263441:T554P	T	+	1	0	DNAJC6	65631103	0.007000	0.16637	0.952000	0.39060	0.024000	0.10985	0.398000	0.20899	-0.434000	0.07275	-0.242000	0.12053	ACC	DNAJC6	-	NULL	ENSG00000116675		0.522	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	74	0.00	0	A			65858515	65858515	+1	no_errors	ENST00000371069	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	0.624	C
DNM1P46	196968	genome.wustl.edu	37	15	100331879	100331879	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:100331879A>C	ENST00000341853.1	-	0	2312				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCATTTTGCCACCTTCCTCTG	0.592																																						dbGAP											0													53.0	53.0	53.0					15																	100331879		876	1991	2867	-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331879A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.592	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	41	0.00	0	A	NR_003260		100331879	100331879	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	33	24.44	11	SNP	0.948	C
DNMBP	23268	genome.wustl.edu	37	10	101639792	101639792	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:101639792A>G	ENST00000324109.4	-	16	4415	c.4324T>C	c.(4324-4326)Tcc>Ccc	p.S1442P	DNMBP_ENST00000342239.3_Missense_Mutation_p.S1466P|DNMBP_ENST00000543621.1_Missense_Mutation_p.S688P|DNMBP_ENST00000540316.1_Missense_Mutation_p.S378P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1442	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTTGGCTGGGAGGTGGAGTCT	0.522																																						dbGAP											0													147.0	144.0	145.0					10																	101639792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4324T>C	10.37:g.101639792A>G	ENSP00000315659:p.Ser1442Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.S1466P	ENST00000324109.4	37	c.4396	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	A	10.84	1.465247	0.26335	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.37411	2.63;2.58;2.26;1.2	5.66	1.89	0.25635	.	0.584026	0.15428	N	0.262865	T	0.17450	0.0419	N	0.11560	0.145	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.25882	-1.0119	10	0.20519	T	0.43	-2.6838	8.2986	0.32001	0.4409:0.4834:0.0756:0.0	.	1442;688;1466	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	P	1466;1442;688;688;378	ENSP00000344914:S1466P;ENSP00000315659:S1442P;ENSP00000443657:S688P;ENSP00000443573:S378P	ENSP00000315659:S1442P	S	-	1	0	DNMBP	101629782	0.058000	0.20735	0.447000	0.26932	0.066000	0.16364	0.762000	0.26503	0.062000	0.16340	0.459000	0.35465	TCC	DNMBP	-	NULL	ENSG00000107554		0.522	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	125	0.79	1	A	NM_015221		101639792	101639792	-1	no_errors	ENST00000342239	ensembl	human	known	69_37n	missense	110	13.74	18	SNP	0.258	G
DOCK7	85440	genome.wustl.edu	37	1	63003604	63003604	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:63003604T>G	ENST00000340370.5	-	27	3353	c.3336A>C	c.(3334-3336)ccA>ccC	p.P1112P	DOCK7_ENST00000251157.5_Silent_p.P1143P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1143					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						GAGATGCAGGTGGAGTAAGTA	0.388																																						dbGAP											0													172.0	153.0	159.0					1																	63003604		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.3336A>C	1.37:g.63003604T>G		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.T315P	ENST00000340370.5	37	c.943	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	T	9.042	0.989927	0.18966	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.24	-5.11	0.02901	.	.	.	.	.	T	0.51193	0.1660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51188	-0.8737	4	.	.	.	.	9.1058	0.36696	0.0:0.185:0.5311:0.2839	.	.	.	.	P	315	.	.	T	-	1	0	DOCK7	62776192	0.009000	0.17119	0.905000	0.35620	0.841000	0.47740	-1.128000	0.03247	-1.195000	0.02680	0.459000	0.35465	ACC	DOCK7	-	NULL	ENSG00000116641		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	100	0.99	1	T	NM_033407		63003604	63003604	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454575	ensembl	human	known	69_37n	missense	79	20.79	21	SNP	0.922	G
DOCK7	85440	genome.wustl.edu	37	1	63018518	63018518	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:63018518A>C	ENST00000340370.5	-	22	2668	c.2651T>G	c.(2650-2652)gTg>gGg	p.V884G	DOCK7_ENST00000251157.5_Missense_Mutation_p.V884G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	884					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						TGCAGGTCTCACCGCAGATCT	0.423																																						dbGAP											0													84.0	81.0	82.0					1																	63018518		2203	4300	6503	-	-	-	SO:0001583	missense	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.2651T>G	1.37:g.63018518A>C	ENSP00000340742:p.Val884Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.V884G	ENST00000340370.5	37	c.2651	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286142	0.23478	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14516	2.52;2.5	4.96	4.96	0.65561	.	0.065121	0.64402	D	0.000009	T	0.02970	0.0088	N	0.00197	-1.87	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41945	-0.9480	10	0.19147	T	0.46	.	10.0827	0.42399	0.8503:0.0:0.0:0.1497	.	884;884;884;884;884	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	G	884	ENSP00000251157:V884G;ENSP00000340742:V884G	ENSP00000251157:V884G	V	-	2	0	DOCK7	62791106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.892000	0.69790	2.072000	0.62099	0.477000	0.44152	GTG	DOCK7	-	NULL	ENSG00000116641		0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	169	0.59	1	A	NM_033407		63018518	63018518	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	95	20.83	25	SNP	1.000	C
DOCK7	85440	genome.wustl.edu	37	1	63027333	63027333	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:63027333A>C	ENST00000340370.5	-	19	2171	c.2154T>G	c.(2152-2154)ggT>ggG	p.G718G	DOCK7_ENST00000251157.5_Silent_p.G718G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	718	DHR-1.				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						CATTAAAAACACCTTTGTGAT	0.284																																						dbGAP											0													73.0	79.0	77.0					1																	63027333		2203	4291	6494	-	-	-	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.2154T>G	1.37:g.63027333A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.G718	ENST00000340370.5	37	c.2154	CCDS30734.1	1																																																																																			DOCK7	-	NULL	ENSG00000116641		0.284	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	134	0.00	0	A	NM_033407		63027333	63027333	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	silent	69	20.69	18	SNP	0.938	C
DOCK9	23348	genome.wustl.edu	37	13	99515727	99515727	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:99515727A>C	ENST00000376460.1	-	31	3442	c.3362T>G	c.(3361-3363)gTg>gGg	p.V1121G	DOCK9_ENST00000448493.2_Missense_Mutation_p.V1133G|DOCK9_ENST00000442173.1_Missense_Mutation_p.V1121G|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.V1122G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1122					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGCTGTCCCCACCTCCCTCAG	0.483																																						dbGAP											0													70.0	67.0	68.0					13																	99515727		1872	4097	5969	-	-	-	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3362T>G	13.37:g.99515727A>C	ENSP00000365643:p.Val1121Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V1122G	ENST00000376460.1	37	c.3365	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696361	0.88830	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	M	0.85197	2.74	0.80722	D	1	P;B;P;B;P;P	0.52061	0.531;0.275;0.908;0.388;0.95;0.761	P;B;B;B;P;B	0.57101	0.493;0.119;0.437;0.369;0.813;0.434	D	0.98959	1.0797	10	0.87932	D	0	-18.7075	15.8419	0.78852	1.0:0.0:0.0:0.0	.	1122;1121;1122;1121;1121;1122	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	G	1121;1122;1122;1122;1121;52;1122;1133;1121	ENSP00000365643:V1121G;ENSP00000341086:V1122G;ENSP00000401958:V1133G;ENSP00000406883:V1121G	ENSP00000341086:V1122G	V	-	2	0	DOCK9	98313728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.838000	0.69388	2.137000	0.66172	0.533000	0.62120	GTG	DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.483	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	259	0.00	0	A	NM_015296		99515727	99515727	-1	no_errors	ENST00000339416	ensembl	human	known	69_37n	missense	175	16.98	36	SNP	1.000	C
DPCR1	135656	genome.wustl.edu	37	6	30919933	30919933	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30919933A>C	ENST00000462446.1	+	2	3720	c.3692A>C	c.(3691-3693)aAc>aCc	p.N1231T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.N73T			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	355						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TCCACAGAAAACCCAGAAAAA	0.428																																						dbGAP											0													133.0	134.0	134.0					6																	30919933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3692A>C	6.37:g.30919933A>C	ENSP00000417182:p.Asn1231Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.N73T	ENST00000462446.1	37	c.218	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546294	0.27652	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.22134	1.97;1.97	3.62	-5.73	0.02398	.	.	.	.	.	T	0.09468	0.0233	L	0.43152	1.355	0.09310	N	1	D	0.69078	0.997	D	0.78314	0.991	T	0.23976	-1.0173	9	0.07175	T	0.84	0.1779	2.5654	0.04782	0.2316:0.2046:0.4269:0.1368	.	1231	E9PEI6	.	T	1231;355;73	ENSP00000417182:N1231T;ENSP00000305948:N73T	ENSP00000305948:N73T	N	+	2	0	DPCR1	31027912	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-1.306000	0.02735	-0.636000	0.05524	0.372000	0.22366	AAC	DPCR1	-	NULL	ENSG00000168631		0.428	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	790	0.50	4	A	NM_080870		30919933	30919933	+1	no_errors	ENST00000304311	ensembl	human	known	69_37n	missense	544	10.05	61	SNP	0.000	C
DPY19L2	283417	genome.wustl.edu	37	12	64062079	64062079	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:64062079T>C	ENST00000324472.4	-	1	278	c.95A>G	c.(94-96)gAg>gGg	p.E32G	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	32					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTCCTCTACCTCCGGCTCCCG	0.622																																						dbGAP											0													22.0	29.0	27.0					12																	64062079		2188	4293	6481	-	-	-	SO:0001583	missense	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.95A>G	12.37:g.64062079T>C	ENSP00000315988:p.Glu32Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	pfam_Dpy-19	p.E32G	ENST00000324472.4	37	c.95	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	T	5.782	0.328588	0.10956	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.45276	0.9;1.56	1.18	1.18	0.20946	.	0.985549	0.08217	U	0.979771	T	0.28067	0.0692	L	0.32530	0.975	0.29612	N	0.846885	B	0.17852	0.024	B	0.10450	0.005	T	0.30707	-0.9969	9	.	.	.	.	4.5187	0.11949	0.0:0.0:0.0:1.0	.	32	Q6NUT2	D19L2_HUMAN	G	32	ENSP00000315988:E32G;ENSP00000444932:E32G	.	E	-	2	0	DPY19L2	62348346	0.981000	0.34729	0.343000	0.25615	0.041000	0.13682	1.044000	0.30329	0.777000	0.33496	0.164000	0.16699	GAG	DPY19L2	-	NULL	ENSG00000177990		0.622	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	47	0.00	0	T	NM_173812		64062079	64062079	-1	no_errors	ENST00000324472	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.446	C
DPYD	1806	genome.wustl.edu	37	1	98015203	98015203	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:98015203A>C	ENST00000370192.3	-	12	1537	c.1437T>G	c.(1435-1437)ggT>ggG	p.G479G		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	479					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CGACATCACCACCTGCAAATA	0.433																																						dbGAP											0													163.0	135.0	144.0					1																	98015203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1437T>G	1.37:g.98015203A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.G479	ENST00000370192.3	37	c.1437	CCDS30777.1	1																																																																																			DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	ENSG00000188641		0.433	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	186	0.53	1	A	NM_000110		98015203	98015203	-1	no_errors	ENST00000370192	ensembl	human	known	69_37n	silent	115	15.94	22	SNP	0.675	C
DPYS	1807	genome.wustl.edu	37	8	105441826	105441826	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:105441826T>G	ENST00000351513.2	-	5	1029	c.897A>C	c.(895-897)ccA>ccC	p.P299P		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	299					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGCAAAGGTGGACCCATGA	0.493																																						dbGAP											0													174.0	137.0	149.0					8																	105441826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.897A>C	8.37:g.105441826T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P299	ENST00000351513.2	37	c.897	CCDS6302.1	8																																																																																			DPYS	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.493	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	109	0.91	1	T	NM_001385		105441826	105441826	-1	no_errors	ENST00000351513	ensembl	human	known	69_37n	silent	121	14.18	20	SNP	0.790	G
DPYSL5	56896	genome.wustl.edu	37	2	27167641	27167641	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27167641A>C	ENST00000288699.6	+	12	1716	c.1558A>C	c.(1558-1560)Acc>Ccc	p.T520P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.T520P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	520					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGCCCGTCACCCGGCATGG	0.627																																						dbGAP											0													62.0	65.0	64.0					2																	27167641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1558A>C	2.37:g.27167641A>C	ENSP00000288699:p.Thr520Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.T520P	ENST00000288699.6	37	c.1558	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913755	0.33815	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85629	-2.01;-2.01	5.24	5.24	0.73138	.	0.169382	0.46758	D	0.000277	T	0.81336	0.4801	L	0.50333	1.59	0.41596	D	0.988825	B	0.02656	0.0	B	0.01281	0.0	T	0.77005	-0.2748	10	0.33940	T	0.23	-29.0999	14.1251	0.65215	1.0:0.0:0.0:0.0	.	520	Q9BPU6	DPYL5_HUMAN	P	520	ENSP00000288699:T520P;ENSP00000385549:T520P	ENSP00000288699:T520P	T	+	1	0	DPYSL5	27021145	0.994000	0.37717	0.995000	0.50966	0.750000	0.42670	2.392000	0.44433	1.991000	0.58162	0.379000	0.24179	ACC	DPYSL5	-	NULL	ENSG00000157851		0.627	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	69	0.00	0	A	NM_020134		27167641	27167641	+1	no_errors	ENST00000288699	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	1.000	C
DRP2	1821	genome.wustl.edu	37	X	100486736	100486736	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100486736A>C	ENST00000395209.3	+	3	627	c.100A>C	c.(100-102)Acc>Ccc	p.T34P	DRP2_ENST00000538510.1_Missense_Mutation_p.T34P|DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Missense_Mutation_p.T34P	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	34					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTCCGAAGCACCTGCCCCCA	0.542																																						dbGAP											0													107.0	89.0	95.0					X																	100486736		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.100A>C	X.37:g.100486736A>C	ENSP00000378635:p.Thr34Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.T34P	ENST00000395209.3	37	c.100	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	a	11.26	1.587372	0.28268	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.05855	3.38;3.38;3.38	5.82	-7.06	0.01568	.	1.056550	0.07369	N	0.885452	T	0.03178	0.0093	N	0.16478	0.41	0.34050	D	0.656033	B	0.02656	0.0	B	0.01281	0.0	T	0.33163	-0.9879	10	0.46703	T	0.11	0.5999	4.0233	0.09675	0.1411:0.0927:0.4038:0.3624	.	34	Q13474	DRP2_HUMAN	P	34	ENSP00000385038:T34P;ENSP00000378635:T34P;ENSP00000441051:T34P	ENSP00000362007:T34P	T	+	1	0	DRP2	100373392	0.000000	0.05858	0.017000	0.16124	0.816000	0.46133	-0.526000	0.06207	-1.435000	0.01972	0.483000	0.47432	ACC	DRP2	-	pirsf_Dystrophin-related_2	ENSG00000102385		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	166	0.00	0	A	NM_001939		100486736	100486736	+1	no_errors	ENST00000395209	ensembl	human	known	69_37n	missense	129	18.35	29	SNP	0.001	C
DSCAM	1826	genome.wustl.edu	37	21	41561083	41561083	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:41561083A>C	ENST00000400454.1	-	12	2916	c.2439T>G	c.(2437-2439)ggT>ggG	p.G813G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	813	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGCTTCTCACCATGCGCCG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													111.0	114.0	113.0					21																	41561083		2029	4175	6204	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2439T>G	21.37:g.41561083A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G813	ENST00000400454.1	37	c.2439	CCDS42929.1	21																																																																																			DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000171587		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	187	0.53	1	A	NM_001389		41561083	41561083	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	119	17.36	25	SNP	0.026	C
DSCAML1	57453	genome.wustl.edu	37	11	117301452	117301452	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:117301452T>G	ENST00000321322.6	-	32	5853	c.5852A>C	c.(5851-5853)cAc>cCc	p.H1951P	DSCAML1_ENST00000527706.1_Missense_Mutation_p.H1681P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1891					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGGCCCGGTGAGGGATGGG	0.657																																						dbGAP											0													121.0	106.0	111.0					11																	117301452		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5852A>C	11.37:g.117301452T>G	ENSP00000315465:p.His1951Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H1951P	ENST00000321322.6	37	c.5852	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331900	0.81801	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70631	-0.43;-0.5	5.04	5.04	0.67666	.	.	.	.	.	T	0.77164	0.4090	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.80118	-0.1516	9	0.87932	D	0	.	14.9328	0.70929	0.0:0.0:0.0:1.0	.	1891	Q8TD84	DSCL1_HUMAN	P	1681;1951;1658	ENSP00000434335:H1681P;ENSP00000315465:H1951P	ENSP00000315465:H1951P	H	-	2	0	DSCAML1	116806662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	2.123000	0.65237	0.482000	0.46254	CAC	DSCAML1	-	NULL	ENSG00000177103		0.657	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	59	0.00	0	T	NM_020693		117301452	117301452	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	27	26.32	10	SNP	1.000	G
DSCAML1	57453	genome.wustl.edu	37	11	117335769	117335769	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:117335769T>G	ENST00000321322.6	-	17	3335	c.3334A>C	c.(3334-3336)Acc>Ccc	p.T1112P	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T842P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1052	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGTCCAGGGTGTAGACCTCG	0.612																																						dbGAP											0													160.0	123.0	135.0					11																	117335769		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3334A>C	11.37:g.117335769T>G	ENSP00000315465:p.Thr1112Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1112P	ENST00000321322.6	37	c.3334	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748878	0.69533	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.61627	0.09;0.09	4.67	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73961	0.3654	M	0.75615	2.305	0.58432	D	0.999999	D	0.58970	0.984	D	0.68943	0.961	T	0.76809	-0.2822	9	0.54805	T	0.06	.	14.279	0.66199	0.0:0.0:0.0:1.0	.	1052	Q8TD84	DSCL1_HUMAN	P	842;1112;819	ENSP00000434335:T842P;ENSP00000315465:T1112P	ENSP00000315465:T1112P	T	-	1	0	DSCAML1	116840979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.993000	0.70616	1.962000	0.57031	0.459000	0.35465	ACC	DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	109	0.00	0	T	NM_020693		117335769	117335769	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	81	17.35	17	SNP	1.000	G
DSG1	1828	genome.wustl.edu	37	18	28934978	28934978	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:28934978A>C	ENST00000257192.4	+	15	3031	c.2819A>C	c.(2818-2820)cAc>cCc	p.H940P	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.H299P|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	940					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGAGTATGCACCCCGAGTTA	0.493																																						dbGAP											0													240.0	231.0	234.0					18																	28934978		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2819A>C	18.37:g.28934978A>C	ENSP00000257192:p.His940Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin	p.H940P	ENST00000257192.4	37	c.2819	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	A	8.162	0.789700	0.16258	.	.	ENSG00000134760	ENST00000257192	T	0.78126	-1.15	6.17	5.0	0.66597	.	0.335163	0.29466	N	0.012065	T	0.59851	0.2224	N	0.10972	0.075	0.35861	D	0.827491	B	0.06786	0.001	B	0.08055	0.003	T	0.58934	-0.7548	10	0.23302	T	0.38	.	12.9809	0.58564	0.6713:0.3287:0.0:0.0	.	940	Q02413	DSG1_HUMAN	P	940	ENSP00000257192:H940P	ENSP00000257192:H940P	H	+	2	0	DSG1	27188976	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	2.523000	0.45580	1.134000	0.42165	0.533000	0.62120	CAC	DSG1	-	NULL	ENSG00000134760		0.493	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	337	0.59	2	A	NM_001942		28934978	28934978	+1	no_errors	ENST00000257192	ensembl	human	known	69_37n	missense	236	12.55	34	SNP	1.000	C
DSG4	147409	genome.wustl.edu	37	18	28991230	28991230	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:28991230T>G	ENST00000308128.4	+	15	2309	c.2174T>G	c.(2173-2175)gTg>gGg	p.V725G	DSG4_ENST00000359747.4_Missense_Mutation_p.V744G|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	725					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGGGCACGGTGGAAGGAGGT	0.602																																						dbGAP											0													88.0	82.0	84.0					18																	28991230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2174T>G	18.37:g.28991230T>G	ENSP00000311859:p.Val725Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin,pfscan_Cadherin	p.V744G	ENST00000308128.4	37	c.2231	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255663	0.39896	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.76316	-1.01;-1.01	5.97	2.3	0.28687	.	0.554792	0.13570	N	0.378123	T	0.82075	0.4958	M	0.62723	1.935	0.23872	N	0.996604	D;P	0.64830	0.994;0.945	P;P	0.62184	0.899;0.719	T	0.68796	-0.5314	10	0.37606	T	0.19	.	7.618	0.28169	0.0:0.2401:0.0:0.7599	.	744;725	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	G	725;744	ENSP00000311859:V725G;ENSP00000352785:V744G	ENSP00000311859:V725G	V	+	2	0	DSG4	27245228	0.809000	0.29036	0.030000	0.17652	0.368000	0.29767	1.121000	0.31283	0.157000	0.19338	-0.264000	0.10439	GTG	DSG4	-	NULL	ENSG00000175065		0.602	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	64	0.00	0	T	NM_177986		28991230	28991230	+1	no_errors	ENST00000359747	ensembl	human	known	69_37n	missense	82	18.00	18	SNP	0.043	G
DSG2	1829	genome.wustl.edu	37	18	29122633	29122633	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:29122633T>G	ENST00000261590.8	+	14	2361	c.2152T>G	c.(2152-2154)Tgg>Ggg	p.W718G	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	718					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGATGGAAGGTGGGAAGAACA	0.522																																						dbGAP											0													115.0	120.0	119.0					18																	29122633		2000	4185	6185	-	-	-	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2152T>G	18.37:g.29122633T>G	ENSP00000261590:p.Trp718Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.W718G	ENST00000261590.8	37	c.2152	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542777	0.27563	.	.	ENSG00000046604	ENST00000261590	T	0.58797	0.31	5.97	5.97	0.96955	.	0.213014	0.34245	N	0.004122	T	0.58366	0.2117	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.54159	-0.8335	10	0.16420	T	0.52	.	15.6284	0.76882	0.0:0.0:0.0:1.0	.	718	Q14126	DSG2_HUMAN	G	718	ENSP00000261590:W718G	ENSP00000261590:W718G	W	+	1	0	DSG2	27376631	1.000000	0.71417	0.916000	0.36221	0.060000	0.15804	4.945000	0.63568	2.281000	0.76405	0.533000	0.62120	TGG	DSG2	-	NULL	ENSG00000046604		0.522	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	150	0.66	1	T	NM_001943		29122633	29122633	+1	no_errors	ENST00000261590	ensembl	human	known	69_37n	missense	117	17.61	25	SNP	0.995	G
DSP	1832	genome.wustl.edu	37	6	7571809	7571809	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:7571809A>C	ENST00000379802.3	+	14	2236	c.1895A>C	c.(1894-1896)cAc>cCc	p.H632P	DSP_ENST00000418664.2_Missense_Mutation_p.H632P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	632	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATCCCCAGCACCAGACAGGT	0.453																																						dbGAP											0													96.0	88.0	91.0					6																	7571809		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1895A>C	6.37:g.7571809A>C	ENSP00000369129:p.His632Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.H632P	ENST00000379802.3	37	c.1895	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	13.35	2.209871	0.39003	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74209	-0.5;-0.82	5.78	5.78	0.91487	.	0.098661	0.45606	D	0.000345	T	0.36441	0.0967	N	0.03608	-0.345	0.34043	D	0.655199	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.31916	-0.9926	10	0.41790	T	0.15	.	13.1687	0.59585	0.8674:0.1326:0.0:0.0	.	679;632	Q4LE79;P15924	.;DESP_HUMAN	P	632;632;437	ENSP00000369129:H632P;ENSP00000396591:H632P	ENSP00000369129:H632P	H	+	2	0	DSP	7516808	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.137000	0.50562	2.207000	0.71202	0.460000	0.39030	CAC	DSP	-	NULL	ENSG00000096696		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	169	0.59	1	A	NM_004415		7571809	7571809	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	203	12.50	29	SNP	0.996	C
DST	667	genome.wustl.edu	37	6	56328483	56328483	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:56328483T>G	ENST00000361203.3	-	96	21886	c.21879A>C	c.(21877-21879)cgA>cgC	p.R7293R	DST_ENST00000370754.5_Silent_p.R7582R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.R5207R|DST_ENST00000244364.6_Silent_p.R4966R|DST_ENST00000446842.2_Silent_p.R7078R|DST_ENST00000421834.2_Silent_p.R5289R|DST_ENST00000370769.4_Silent_p.R7404R			Q03001	DYST_HUMAN	dystonin	7402	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				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)			GGCCTCGGGGTCGGAAAGCAG	0.572																																						dbGAP											0													129.0	138.0	135.0					6																	56328483		2005	4157	6162	-	-	-	SO:0001819	synonymous_variant	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.21879A>C	6.37:g.56328483T>G		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_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom	p.D91A	ENST00000361203.3	37	c.272		6	.	.	.	.	.	.	.	.	.	.	T	8.506	0.865450	0.17250	.	.	ENSG00000151914	ENST00000523292	.	.	.	5.82	-3.08	0.05347	.	.	.	.	.	T	0.06554	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	T	0.33701	-0.9858	3	.	.	.	.	1.6732	0.02816	0.1125:0.2694:0.2323:0.3859	.	.	.	.	A	91	.	.	D	-	2	0	DST	56436442	0.658000	0.27402	0.991000	0.47740	0.972000	0.66771	-0.264000	0.08658	-0.394000	0.07727	0.533000	0.62120	GAC	DST	-	NULL	ENSG00000151914		0.572	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	129	0.00	0	T	NM_001723		56328483	56328483	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000523292	ensembl	human	novel	69_37n	missense	94	22.13	27	SNP	0.903	G
DST	667	genome.wustl.edu	37	6	56334742	56334742	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:56334742A>C	ENST00000361203.3	-	92	21537	c.21530T>G	c.(21529-21531)gTa>gGa	p.V7177G	DST_ENST00000370754.5_Missense_Mutation_p.V7466G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V5091G|DST_ENST00000244364.6_Missense_Mutation_p.V4874G|DST_ENST00000446842.2_Missense_Mutation_p.V6962G|DST_ENST00000421834.2_Missense_Mutation_p.V5173G|DST_ENST00000370769.4_Missense_Mutation_p.V7288G			Q03001	DYST_HUMAN	dystonin	7286					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)			ACACTTAGCTACCTGCCTTGT	0.323																																						dbGAP											0													123.0	117.0	119.0					6																	56334742		1871	4104	5975	-	-	-	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.21530T>G	6.37:g.56334742A>C	ENSP00000354508:p.Val7177Gly	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.V7466G	ENST00000361203.3	37	c.22397		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.53|18.53	3.643820|3.643820	0.67244|0.67244	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.70045|.	0.68;-0.43;-0.45;-0.44;0.5;-0.37;-0.43|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Growth-arrest-specific protein 2 domain (5);|.	0.000000|.	0.49305|.	D|.	0.000155|.	T|.	0.75860|.	0.3907|.	M|M	0.86343|0.86343	2.81|2.81	0.34932|.	D|.	0.749436|.	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.998;0.999;0.997|.	T|.	0.79564|.	-0.1751|.	9|.	0.87932|.	D|.	0|.	.|.	16.2644|16.2644	0.82568|0.82568	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	5173;7288;7466;7286;4874|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8|.	.;.;.;DYST_HUMAN;.|.	G|E	4874;7466;7288;5173;6962;5091;7177|5	ENSP00000244364:V4874G;ENSP00000359790:V7466G;ENSP00000359805:V7288G;ENSP00000400883:V5173G;ENSP00000393645:V6962G;ENSP00000359824:V5091G;ENSP00000354508:V7177G|.	ENSP00000244364:V4874G|.	V|X	-|-	2|1	0|0	DST|DST	56442701|56442701	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	9.307000|9.307000	0.96226|0.96226	2.244000|2.244000	0.73946|0.73946	0.528000|0.528000	0.53228|0.53228	GTA|TAG	DST	-	pfam_GAS2_dom,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_GAS2_dom	ENSG00000151914		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	130	0.00	0	A	NM_001723		56334742	56334742	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	102	18.25	23	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56373496	56373496	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:56373496A>C	ENST00000361203.3	-	70	18117	c.18110T>G	c.(18109-18111)gTg>gGg	p.V6037G	DST_ENST00000370754.5_Missense_Mutation_p.V6326G|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V3951G|DST_ENST00000244364.6_Missense_Mutation_p.V3734G|DST_ENST00000446842.2_Missense_Mutation_p.V5822G|DST_ENST00000421834.2_Missense_Mutation_p.V4060G|DST_ENST00000370769.4_Missense_Mutation_p.V6148G			Q03001	DYST_HUMAN	dystonin	6033					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)			CCTCTCTTCCACCAGTGTGTG	0.423																																						dbGAP											0													162.0	163.0	163.0					6																	56373496		1935	4147	6082	-	-	-	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.18110T>G	6.37:g.56373496A>C	ENSP00000354508:p.Val6037Gly	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.V6326G	ENST00000361203.3	37	c.18977		6	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299171	0.40694	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.97	3.64	0.41730	.	0.419667	0.19896	N	0.103621	T	0.15132	0.0365	N	0.08118	0	0.29603	N	0.847553	B;P;B;B;B	0.37276	0.412;0.589;0.399;0.101;0.08	B;P;B;B;B	0.46208	0.257;0.507;0.206;0.096;0.037	T	0.07868	-1.0750	9	0.27785	T	0.31	.	4.5309	0.12004	0.5636:0.0:0.4364:0.0	.	4060;6148;6326;6146;3734	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	3734;6326;6148;4060;5822;3951;6037;150	ENSP00000244364:V3734G;ENSP00000359790:V6326G;ENSP00000359805:V6148G;ENSP00000400883:V4060G;ENSP00000393645:V5822G;ENSP00000359824:V3951G;ENSP00000354508:V6037G	ENSP00000244364:V3734G	V	-	2	0	DST	56481455	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.971000	0.56831	1.094000	0.41399	0.528000	0.53228	GTG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	162	0.00	0	A	NM_001723		56373496	56373496	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	97	21.14	26	SNP	0.987	C
DST	667	genome.wustl.edu	37	6	56458620	56458620	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:56458620A>C	ENST00000361203.3	-	44	11941	c.11934T>G	c.(11932-11934)ggT>ggG	p.G3978G	DST_ENST00000370754.5_Silent_p.G4158G|DST_ENST00000312431.6_Silent_p.G3978G|DST_ENST00000370788.2_Silent_p.G1892G|DST_ENST00000244364.6_Silent_p.G1566G|DST_ENST00000446842.2_Silent_p.G3654G|DST_ENST00000421834.2_Silent_p.G1892G|DST_ENST00000370769.4_Silent_p.G3980G			Q03001	DYST_HUMAN	dystonin	3978					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)			ATCTCAAGTCACCTTTGTGAG	0.433																																						dbGAP											0													217.0	213.0	214.0					6																	56458620		1912	4135	6047	-	-	-	SO:0001819	synonymous_variant	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.11934T>G	6.37:g.56458620A>C		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,smart_Spectrin/alpha-actinin	p.V226G	ENST00000361203.3	37	c.677		6																																																																																			DST	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000151914		0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	473	0.00	0	A	NM_001723		56458620	56458620	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000518398	ensembl	human	known	69_37n	missense	336	13.33	52	SNP	0.036	C
DSTYK	25778	genome.wustl.edu	37	1	205156734	205156734	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:205156734T>G	ENST00000367162.3	-	2	496	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	DSTYK_ENST00000367160.4_Missense_Mutation_p.T156P|DSTYK_ENST00000367161.3_Missense_Mutation_p.T156P	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	156					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTCCCATAGGTGAAGCGGAGG	0.597																																						dbGAP											0													55.0	49.0	51.0					1																	205156734		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.466A>C	1.37:g.205156734T>G	ENSP00000356130:p.Thr156Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	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,pfscan_Prot_kinase_cat_dom	p.T156P	ENST00000367162.3	37	c.466	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395412	0.83011	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.80033	-0.92;-1.27;-1.33	5.53	5.53	0.82687	.	0.100102	0.64402	D	0.000004	D	0.84492	0.5484	L	0.52573	1.65	0.50313	D	0.999864	D;D	0.67145	0.996;0.993	P;P	0.62014	0.897;0.791	D	0.85506	0.1194	10	0.62326	D	0.03	-21.0831	11.3451	0.49556	0.0:0.0:0.1518:0.8482	.	156;156	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	P	156	ENSP00000356128:T156P;ENSP00000356129:T156P;ENSP00000356130:T156P	ENSP00000356128:T156P	T	-	1	0	DSTYK	203423357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.798000	0.69095	2.099000	0.63709	0.459000	0.35465	ACC	DSTYK	-	NULL	ENSG00000133059		0.597	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	103	0.96	1	T	NM_015375		205156734	205156734	-1	no_errors	ENST00000367162	ensembl	human	known	69_37n	missense	182	11.22	23	SNP	1.000	G
DUOX1	53905	genome.wustl.edu	37	15	45448102	45448102	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:45448102A>C	ENST00000321429.4	+	29	4084	c.3677A>C	c.(3676-3678)cAc>cCc	p.H1226P	DUOX1_ENST00000561166.1_Missense_Mutation_p.H872P|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.H1226P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1226	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGACCCACCACCTCTACATC	0.607																																						dbGAP											0													95.0	88.0	91.0					15																	45448102		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3677A>C	15.37:g.45448102A>C	ENSP00000317997:p.His1226Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.H1226P	ENST00000321429.4	37	c.3677	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502085	0.64298	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91464	-2.85;-2.85	4.11	4.11	0.48088	Flavoprotein transmembrane component (1);	0.216418	0.47455	D	0.000237	D	0.96207	0.8763	H	0.96015	3.755	0.58432	D	0.999996	D	0.57257	0.979	D	0.65573	0.936	D	0.96649	0.9480	10	0.66056	D	0.02	-35.0919	11.3742	0.49717	1.0:0.0:0.0:0.0	.	1226	Q9NRD9	DUOX1_HUMAN	P	1226	ENSP00000317997:H1226P;ENSP00000373689:H1226P	ENSP00000317997:H1226P	H	+	2	0	DUOX1	43235394	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.983000	0.70540	1.837000	0.53436	0.460000	0.39030	CAC	DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	66	0.00	0	A	NM_017434		45448102	45448102	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	missense	75	25.74	26	SNP	1.000	C
DUSP10	11221	genome.wustl.edu	37	1	221912942	221912942	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:221912942T>G	ENST00000366899.3	-	2	383	c.145A>C	c.(145-147)Acc>Ccc	p.T49P	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	49					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GACACAACGGTGGTGGCGATG	0.577																																						dbGAP											0													120.0	112.0	115.0					1																	221912942		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.145A>C	1.37:g.221912942T>G	ENSP00000355866:p.Thr49Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.T49P	ENST00000366899.3	37	c.145	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433504	0.43224	.	.	ENSG00000143507	ENST00000366899	T	0.02682	4.2	5.52	2.0	0.26442	.	0.431418	0.27113	N	0.020878	T	0.02342	0.0072	N	0.19112	0.55	0.80722	D	1	B	0.26445	0.149	B	0.25987	0.065	T	0.54748	-0.8247	10	0.72032	D	0.01	.	8.5616	0.33514	0.0:0.3907:0.0:0.6093	.	49	Q9Y6W6	DUS10_HUMAN	P	49	ENSP00000355866:T49P	ENSP00000355866:T49P	T	-	1	0	DUSP10	219979565	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	2.736000	0.47385	0.101000	0.17610	0.482000	0.46254	ACC	DUSP10	-	NULL	ENSG00000143507		0.577	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	119	0.83	1	T	NM_007207		221912942	221912942	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	missense	140	19.32	34	SNP	1.000	G
DUSP11	8446	genome.wustl.edu	37	2	73989847	73989847	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73989847A>C	ENST00000272444.3	-	9	1116	c.1075T>G	c.(1075-1077)Tgg>Ggg	p.W359G	DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	312					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TAAGGATACCACCTTCTTCTA	0.522																																						dbGAP											0													103.0	100.0	101.0					2																	73989847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.1075T>G	2.37:g.73989847A>C	ENSP00000272444:p.Trp359Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase	p.W359G	ENST00000272444.3	37	c.1075	CCDS1928.2	2	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440653	0.43326	.	.	ENSG00000144048	ENST00000272444	.	.	.	4.85	3.77	0.43336	.	1.197050	0.05702	N	0.594299	T	0.26846	0.0657	L	0.29908	0.895	0.19300	N	0.999971	P	0.37466	0.596	B	0.35470	0.203	T	0.27157	-1.0082	9	0.62326	D	0.03	2.359	3.8317	0.08877	0.7766:0.0:0.2234:0.0	.	312	O75319	DUS11_HUMAN	G	359	.	ENSP00000272444:W359G	W	-	1	0	DUSP11	73843355	0.026000	0.19158	0.007000	0.13788	0.160000	0.22226	2.336000	0.43938	1.043000	0.40175	0.533000	0.62120	TGG	DUSP11	-	NULL	ENSG00000144048		0.522	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP11	HGNC	protein_coding	OTTHUMT00000252047.3	153	0.65	1	A			73989847	73989847	-1	no_errors	ENST00000272444	ensembl	human	known	69_37n	missense	92	23.33	28	SNP	0.012	C
DYNC1H1	1778	genome.wustl.edu	37	14	102483426	102483426	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:102483426T>G	ENST00000360184.4	+	39	8014	c.7850T>G	c.(7849-7851)gTg>gGg	p.V2617G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2617	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTCCAAAGGTGGTGGGTCTC	0.522																																						dbGAP											0													119.0	107.0	111.0					14																	102483426		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7849-1T>G	14.37:g.102483426T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V2617G	ENST00000360184.4	37	c.7850	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196684	0.79015	.	.	ENSG00000197102	ENST00000360184	T	0.25250	1.81	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72912	-0.4148	10	0.42905	T	0.14	.	14.8564	0.70341	0.0:0.0:0.0:1.0	.	2617	Q14204	DYHC1_HUMAN	G	2617	ENSP00000348965:V2617G	ENSP00000348965:V2617G	V	+	2	0	DYNC1H1	101553179	1.000000	0.71417	0.935000	0.37517	0.906000	0.53458	7.857000	0.86963	1.991000	0.58162	0.459000	0.35465	GTG	DYNC1H1	-	smart_AAA+_ATPase	ENSG00000197102		0.522	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	129	0.76	1	T	NM_001376	Missense_Mutation	102483426	102483426	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	77	25.00	26	SNP	1.000	G
DYNC1H1	1778	genome.wustl.edu	37	14	102496051	102496051	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:102496051T>G	ENST00000360184.4	+	49	9806		c.e49+2			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCGACCAGGTGCGTCACAGG	0.537																																						dbGAP											0													93.0	87.0	89.0					14																	102496051		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9642+2T>G	14.37:g.102496051T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	-	e49+2	ENST00000360184.4	37	c.9642+2	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019455	0.75275	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6693	0.77262	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101565804	1.000000	0.71417	0.983000	0.44433	0.710000	0.40934	7.991000	0.88244	2.106000	0.64143	0.477000	0.44152	.	DYNC1H1	-	-	ENSG00000197102		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	53	0.00	0	T	NM_001376	Intron	102496051	102496051	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	splice_site	63	16.88	13	SNP	1.000	G
DYNC1H1	1778	genome.wustl.edu	37	14	102498773	102498773	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:102498773A>C	ENST00000360184.4	+	52	10212	c.10048A>C	c.(10048-10050)Acc>Ccc	p.T3350P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3350	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTCATCCCCACCATCGTCAA	0.542																																						dbGAP											0													112.0	89.0	97.0					14																	102498773		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10048A>C	14.37:g.102498773A>C	ENSP00000348965:p.Thr3350Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.T3350P	ENST00000360184.4	37	c.10048	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228164	0.58777	.	.	ENSG00000197102	ENST00000360184	T	0.74632	-0.86	5.36	5.36	0.76844	Dynein heavy chain, coiled coil stalk (1);	0.153096	0.64402	D	0.000018	T	0.79429	0.4444	M	0.74258	2.255	0.80722	D	1	B	0.27229	0.172	B	0.38225	0.268	T	0.80009	-0.1562	10	0.87932	D	0	.	15.3642	0.74507	1.0:0.0:0.0:0.0	.	3350	Q14204	DYHC1_HUMAN	P	3350	ENSP00000348965:T3350P	ENSP00000348965:T3350P	T	+	1	0	DYNC1H1	101568526	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.271000	0.78506	2.044000	0.60594	0.383000	0.25322	ACC	DYNC1H1	-	NULL	ENSG00000197102		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	120	0.00	0	A	NM_001376		102498773	102498773	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	87	22.81	26	SNP	1.000	C
DYNC1I1	1780	genome.wustl.edu	37	7	95657609	95657609	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:95657609A>C	ENST00000324972.6	+	11	1336	c.1143A>C	c.(1141-1143)acA>acC	p.T381T	DYNC1I1_ENST00000537881.1_Silent_p.T344T|DYNC1I1_ENST00000447467.2_Silent_p.T364T|DYNC1I1_ENST00000457059.1_Silent_p.T364T|DYNC1I1_ENST00000437599.1_Silent_p.T361T|DYNC1I1_ENST00000359388.4_Silent_p.T344T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	381					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGCAGCGGACACCCTTATCAG	0.512																																						dbGAP											0													138.0	116.0	123.0					7																	95657609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1143A>C	7.37:g.95657609A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.T381	ENST00000324972.6	37	c.1143	CCDS5644.1	7																																																																																			DYNC1I1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000158560		0.512	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	188	0.53	1	A	NM_004411		95657609	95657609	+1	no_errors	ENST00000324972	ensembl	human	known	69_37n	silent	121	18.00	27	SNP	0.217	C
DYSF	8291	genome.wustl.edu	37	2	71788923	71788923	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:71788923A>C	ENST00000258104.3	+	23	2481	c.2204A>C	c.(2203-2205)cAc>cCc	p.H735P	DYSF_ENST00000413539.2_Missense_Mutation_p.H766P|DYSF_ENST00000394120.2_Missense_Mutation_p.H736P|DYSF_ENST00000410041.1_Missense_Mutation_p.H753P|DYSF_ENST00000409651.1_Missense_Mutation_p.H767P|DYSF_ENST00000409366.1_Missense_Mutation_p.H736P|DYSF_ENST00000410020.3_Missense_Mutation_p.H753P|DYSF_ENST00000429174.2_Missense_Mutation_p.H735P|DYSF_ENST00000409762.1_Missense_Mutation_p.H752P|DYSF_ENST00000409582.3_Missense_Mutation_p.H752P|DYSF_ENST00000409744.1_Missense_Mutation_p.H722P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	735					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGCCACCCACCTGGACCAG	0.632																																						dbGAP											0													148.0	115.0	126.0					2																	71788923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2204A>C	2.37:g.71788923A>C	ENSP00000258104:p.His735Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.H766P	ENST00000258104.3	37	c.2297	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941457	0.34283	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.07	5.07	0.68467	Ferlin A-domain (1);	0.316326	0.34700	N	0.003743	T	0.65249	0.2673	L	0.39898	1.24	0.41364	D	0.987443	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.002	T	0.61207	-0.7109	10	0.30854	T	0.27	-19.6696	12.7904	0.57530	1.0:0.0:0.0:0.0	.	767;753;736;722;753;722;752;721;766;752;735;721;736;735	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	P	766;752;752;735;735;767;736;722;736;753;753	ENSP00000407046:H766P;ENSP00000387137:H752P;ENSP00000386547:H752P;ENSP00000398305:H735P;ENSP00000258104:H735P;ENSP00000386683:H767P;ENSP00000377678:H736P;ENSP00000386285:H722P;ENSP00000386512:H736P;ENSP00000386881:H753P;ENSP00000386617:H753P	ENSP00000258104:H735P	H	+	2	0	DYSF	71642431	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.636000	0.67848	1.907000	0.55213	0.459000	0.35465	CAC	DYSF	-	pfam_Ferlin_A-domain	ENSG00000135636		0.632	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	73	0.00	0	A	NM_003494		71788923	71788923	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	1.000	C
DZIP3	9666	genome.wustl.edu	37	3	108409716	108409716	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:108409716A>C	ENST00000361582.3	+	32	3829	c.3599A>C	c.(3598-3600)cAc>cCc	p.H1200P	DZIP3_ENST00000463306.1_Missense_Mutation_p.H1200P	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1200					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTCCCTGGTCACCCCAGCCGG	0.473																																						dbGAP											0													104.0	96.0	99.0					3																	108409716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3599A>C	3.37:g.108409716A>C	ENSP00000355028:p.His1200Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H1200P	ENST00000361582.3	37	c.3599	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038866	0.55003	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.18174	2.23;2.23	4.92	2.29	0.28610	.	0.225196	0.31747	N	0.007125	T	0.12732	0.0309	N	0.05414	-0.055	0.31499	N	0.664967	B;D	0.67145	0.001;0.996	B;P	0.56788	0.001;0.806	T	0.07424	-1.0773	10	0.35671	T	0.21	-1.1307	5.0805	0.14653	0.6247:0.1915:0.0:0.1838	.	818;1200	D3DN61;Q86Y13	.;DZIP3_HUMAN	P	1200	ENSP00000355028:H1200P;ENSP00000419981:H1200P	ENSP00000355028:H1200P	H	+	2	0	DZIP3	109892406	0.016000	0.18221	0.997000	0.53966	0.870000	0.49936	0.565000	0.23578	0.970000	0.38263	0.482000	0.46254	CAC	DZIP3	-	NULL	ENSG00000198919		0.473	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	101	0.98	1	A	NM_014648		108409716	108409716	+1	no_errors	ENST00000361582	ensembl	human	known	69_37n	missense	92	16.36	18	SNP	0.992	C
DZIP1L	199221	genome.wustl.edu	37	3	137822747	137822747	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:137822747T>G	ENST00000327532.2	-	2	429	c.67A>C	c.(67-69)Acc>Ccc	p.T23P	DZIP1L_ENST00000469243.1_Missense_Mutation_p.T23P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	23					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AACTTGAAGGTGGGGAACGTG	0.617																																						dbGAP											0													79.0	86.0	84.0					3																	137822747		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.67A>C	3.37:g.137822747T>G	ENSP00000332148:p.Thr23Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.T23P	ENST00000327532.2	37	c.67	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754421	0.31046	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706;ENST00000467030;ENST00000492010	T;T	0.27104	3.05;1.69	5.07	-8.68	0.00859	.	0.959599	0.08604	N	0.921062	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.15473	0.013;0.006	B;B	0.16289	0.015;0.007	T	0.27536	-1.0071	10	0.32370	T	0.25	-0.9953	0.7571	0.01000	0.1815:0.2509:0.2194:0.3482	.	23;23	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	P	23	ENSP00000332148:T23P;ENSP00000419486:T23P	ENSP00000332148:T23P	T	-	1	0	DZIP1L	139305437	0.000000	0.05858	0.095000	0.20976	0.076000	0.17211	-1.743000	0.01834	-1.064000	0.03172	-0.333000	0.08304	ACC	DZIP1L	-	NULL	ENSG00000158163		0.617	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	50	0.00	0	T	NM_173543		137822747	137822747	-1	no_errors	ENST00000327532	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.004	G
EBNA1BP2	10969	genome.wustl.edu	37	1	43632905	43632905	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:43632905A>C	ENST00000236051.2	-	6	680	c.539T>G	c.(538-540)gTg>gGg	p.V180G	EBNA1BP2_ENST00000431635.2_Splice_Site_p.V235G	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	180					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCGTTTGCACCTGTGATAT	0.423																																						dbGAP											0													201.0	189.0	193.0					1																	43632905		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.538-1T>G	1.37:g.43632905A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A66	Missense_Mutation	SNP	pfam_Ebp2	p.V235G	ENST00000236051.2	37	c.704	CCDS478.1	1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833679	0.91036	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.64085	-0.08;-0.08	6.06	6.06	0.98353	.	0.053581	0.85682	D	0.000000	D	0.83285	0.5221	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86696	0.1926	10	0.87932	D	0	-15.5535	16.6093	0.84858	1.0:0.0:0.0:0.0	.	180;180	Q6IB29;Q99848	.;EBP2_HUMAN	G	235;180	ENSP00000407323:V235G;ENSP00000236051:V180G	ENSP00000236051:V180G	V	-	2	0	EBNA1BP2	43405492	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.374000	0.90133	2.324000	0.78689	0.533000	0.62120	GTG	EBNA1BP2	-	pfam_Ebp2	ENSG00000117395		0.423	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBNA1BP2	HGNC	protein_coding	OTTHUMT00000019015.1	305	0.00	0	A		Missense_Mutation	43632905	43632905	-1	no_errors	ENST00000431635	ensembl	human	known	69_37n	missense	207	13.03	31	SNP	1.000	C
ECM1	1893	genome.wustl.edu	37	1	150482611	150482611	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:150482611T>C	ENST00000369047.4	+	5	463	c.338T>C	c.(337-339)cTc>cCc	p.L113P	ECM1_ENST00000346569.6_Missense_Mutation_p.L113P|ECM1_ENST00000369049.4_Missense_Mutation_p.L140P|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	113					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTGTCCCCCTCCAAAAAGAG	0.577																																					Melanoma(156;1696 2560 11093 19685)	dbGAP											0													151.0	152.0	151.0					1																	150482611		2203	4300	6503	-	-	-	SO:0001583	missense	0			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.338T>C	1.37:g.150482611T>C	ENSP00000358043:p.Leu113Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.L140P	ENST00000369047.4	37	c.419	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362139	0.41902	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.82344	-1.6;-1.6;-1.6	4.68	2.17	0.27698	.	1.307590	0.05423	N	0.544599	T	0.80412	0.4618	L	0.56769	1.78	0.18873	N	0.999981	D;D;D;D;B;D	0.71674	0.989;0.995;0.998;0.989;0.009;0.989	D;D;D;D;B;D	0.64776	0.913;0.914;0.929;0.913;0.016;0.913	T	0.62789	-0.6780	10	0.72032	D	0.01	-1.7025	3.3287	0.07076	0.2565:0.1074:0.0:0.6361	.	35;42;140;113;113;113	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	P	140;113;113	ENSP00000358045:L140P;ENSP00000358043:L113P;ENSP00000271630:L113P	ENSP00000271630:L113P	L	+	2	0	ECM1	148749235	0.005000	0.15991	0.009000	0.14445	0.039000	0.13416	1.315000	0.33608	0.219000	0.20840	0.374000	0.22700	CTC	ECM1	-	pfam_ECM1	ENSG00000143369		0.577	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	368	0.00	0	T	NM_004425		150482611	150482611	+1	no_errors	ENST00000369049	ensembl	human	known	69_37n	missense	632	10.03	71	SNP	0.002	C
ECM2	1842	genome.wustl.edu	37	9	95277311	95277311	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:95277311A>C	ENST00000344604.5	-	4	805	c.656T>G	c.(655-657)gTg>gGg	p.V219G	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.V197G	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	219					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTCTTCTTTCACTTCTTCATC	0.458																																						dbGAP											0													160.0	172.0	167.0					9																	95277311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.656T>G	9.37:g.95277311A>C	ENSP00000344758:p.Val219Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.V219G	ENST00000344604.5	37	c.656	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	A	3.603	-0.081244	0.07141	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51071	0.72;0.82	4.21	-5.67	0.02444	.	1.798320	0.02437	N	0.084188	T	0.27098	0.0664	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.07404	-1.0774	10	0.23891	T	0.37	.	2.5885	0.04837	0.2089:0.0804:0.3754:0.3353	.	219;197;197	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	G	197;219	ENSP00000393971:V197G;ENSP00000344758:V219G	ENSP00000344758:V219G	V	-	2	0	ECM2	94317132	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.308000	0.08156	-0.562000	0.06086	-0.347000	0.07816	GTG	ECM2	-	NULL	ENSG00000106823		0.458	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	401	0.25	1	A	NM_001393		95277311	95277311	-1	no_errors	ENST00000344604	ensembl	human	known	69_37n	missense	332	10.22	38	SNP	0.000	C
ECSIT	51295	genome.wustl.edu	37	19	11624890	11624890	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:11624890A>C	ENST00000270517.7	-	3	378	c.243T>G	c.(241-243)ggT>ggG	p.G81G	ECSIT_ENST00000592312.1_5'UTR|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Silent_p.G81G|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Silent_p.G81G|ECSIT_ENST00000591352.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	81					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCCGTTCCCCACCAGGCGCCT	0.627																																						dbGAP											0													64.0	58.0	60.0					19																	11624890		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.243T>G	19.37:g.11624890A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	pfam_ECSIT	p.G81	ENST00000270517.7	37	c.243	CCDS12262.1	19																																																																																			ECSIT	-	pfam_ECSIT	ENSG00000130159		0.627	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	53	0.00	0	A	NM_016581		11624890	11624890	-1	no_errors	ENST00000270517	ensembl	human	known	69_37n	silent	80	21.70	23	SNP	0.000	C
EDC4	23644	genome.wustl.edu	37	16	67911294	67911294	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67911294T>G	ENST00000358933.5	+	5	865	c.626T>G	c.(625-627)gTt>gGt	p.V209G	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTGGCTCTGGTTAATGGCAAA	0.567																																						dbGAP											0													125.0	128.0	127.0					16																	67911294		2198	4300	6498	-	-	-	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.626T>G	16.37:g.67911294T>G	ENSP00000351811:p.Val209Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V209G	ENST00000358933.5	37	c.626	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	T	8.757	0.922718	0.18056	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.45	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.735223	0.13010	N	0.420969	T	0.27731	0.0682	N	0.08118	0	0.45129	D	0.998142	B;B	0.15141	0.012;0.01	B;B	0.13407	0.009;0.009	T	0.20706	-1.0267	9	0.23302	T	0.38	-6.8253	4.2812	0.10833	0.2871:0.0994:0.0:0.6134	.	141;209	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	G	209;141	.	ENSP00000351811:V209G	V	+	2	0	EDC4	66468795	0.987000	0.35691	1.000000	0.80357	0.984000	0.73092	2.114000	0.41911	2.079000	0.62486	0.379000	0.24179	GTT	EDC4	-	superfamily_WD40_repeat_dom	ENSG00000038358		0.567	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	52	0.00	0	T	NM_014329		67911294	67911294	+1	no_errors	ENST00000358933	ensembl	human	known	69_37n	missense	27	12.50	4	SNP	0.979	G
EDIL3	10085	genome.wustl.edu	37	5	83402620	83402620	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:83402620A>C	ENST00000296591.5	-	6	916	c.498T>G	c.(496-498)ggT>ggG	p.G166G	EDIL3_ENST00000380138.3_Silent_p.G156G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	166	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATATAATTCCACCTTCAATTC	0.383																																						dbGAP											0													153.0	162.0	159.0					5																	83402620		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.498T>G	5.37:g.83402620A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.G166	ENST00000296591.5	37	c.498	CCDS4062.1	5																																																																																			EDIL3	-	superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.383	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	260	0.76	2	A	NM_005711		83402620	83402620	-1	no_errors	ENST00000296591	ensembl	human	known	69_37n	silent	191	10.70	23	SNP	0.826	C
EDN1	1906	genome.wustl.edu	37	6	12292712	12292712	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:12292712A>C	ENST00000379375.5	+	2	470	c.203A>C	c.(202-204)cAc>cCc	p.H68P		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	68					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TACTTCTGCCACCTGGACATC	0.567																																						dbGAP											0													85.0	80.0	82.0					6																	12292712		2203	4300	6503	-	-	-	SO:0001583	missense	0			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.203A>C	6.37:g.12292712A>C	ENSP00000368683:p.His68Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA1	Missense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.H68P	ENST00000379375.5	37	c.203	CCDS4522.1	6	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594505	0.86953	.	.	ENSG00000078401	ENST00000379375	D	0.94613	-3.47	5.79	4.59	0.56863	Endothelin-like toxin (2);	0.045370	0.85682	D	0.000000	D	0.96522	0.8865	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	D	0.96994	0.9724	10	0.87932	D	0	-6.5382	12.3122	0.54935	0.8735:0.0:0.0:0.1265	.	68;68	Q6FH53;P05305	.;EDN1_HUMAN	P	68	ENSP00000368683:H68P	ENSP00000368683:H68P	H	+	2	0	EDN1	12400698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.139000	0.77314	2.209000	0.71365	0.533000	0.62120	CAC	EDN1	-	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	ENSG00000078401		0.567	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	153	0.00	0	A	NM_001955		12292712	12292712	+1	no_errors	ENST00000379375	ensembl	human	known	69_37n	missense	115	15.94	22	SNP	1.000	C
EDNRA	1909	genome.wustl.edu	37	4	148457053	148457053	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:148457053T>G	ENST00000324300.5	+	5	1287	c.772T>G	c.(772-774)Tgg>Ggg	p.W258G	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.W33G|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.W149G|EDNRA_ENST00000358556.4_Missense_Mutation_p.W149G	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	258					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AAAGGACTGGTGGCTCTTCGG	0.443																																						dbGAP											0													205.0	195.0	198.0					4																	148457053		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.772T>G	4.37:g.148457053T>G	ENSP00000315011:p.Trp258Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ETA_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn	p.W258G	ENST00000324300.5	37	c.772	CCDS3769.1	4	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378131	0.82682	.	.	ENSG00000151617	ENST00000358556;ENST00000324300;ENST00000511804;ENST00000506066	T;D;T;T	0.83335	1.24;-1.71;1.24;1.24	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91616	0.7351	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.92813	0.6266	10	0.87932	D	0	-12.8934	15.9204	0.79562	0.0:0.0:0.0:1.0	.	149;258	P25101-4;P25101	.;EDNRA_HUMAN	G	149;258;33;149	ENSP00000351359:W149G;ENSP00000315011:W258G;ENSP00000425354:W33G;ENSP00000425281:W149G	ENSP00000315011:W258G	W	+	1	0	EDNRA	148676503	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.698000	0.84413	2.164000	0.68074	0.533000	0.62120	TGG	EDNRA	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000151617		0.443	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	385	0.52	2	T			148457053	148457053	+1	no_errors	ENST00000324300	ensembl	human	known	69_37n	missense	290	10.19	33	SNP	1.000	G
EEA1	8411	genome.wustl.edu	37	12	93172946	93172946	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:93172946A>C	ENST00000322349.8	-	25	3863	c.3599T>G	c.(3598-3600)gTg>gGg	p.V1200G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1200	Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCCTTTTTCACCTGGTCTTT	0.408																																						dbGAP											0													186.0	179.0	182.0					12																	93172946		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3599T>G	12.37:g.93172946A>C	ENSP00000317955:p.Val1200Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.V1200G	ENST00000322349.8	37	c.3599	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335060	0.24253	.	.	ENSG00000102189	ENST00000322349	T	0.66099	-0.19	5.63	4.49	0.54785	.	0.641212	0.13916	N	0.353878	T	0.43722	0.1260	N	0.14661	0.345	0.45307	D	0.998303	B	0.20671	0.047	B	0.18561	0.022	T	0.15263	-1.0443	10	0.19147	T	0.46	.	11.4578	0.50191	0.9294:0.0:0.0706:0.0	.	1200	Q15075	EEA1_HUMAN	G	1200	ENSP00000317955:V1200G	ENSP00000317955:V1200G	V	-	2	0	EEA1	91697077	0.990000	0.36364	0.916000	0.36221	0.866000	0.49608	2.951000	0.49089	0.964000	0.38108	0.455000	0.32223	GTG	EEA1	-	NULL	ENSG00000102189		0.408	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	300	0.00	0	A	NM_003566		93172946	93172946	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	missense	181	13.40	28	SNP	0.867	C
EEA1	8411	genome.wustl.edu	37	12	93213144	93213144	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:93213144A>C	ENST00000322349.8	-	14	1932	c.1668T>G	c.(1666-1668)ggT>ggG	p.G556G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	556	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTCTCCTTCACCAGCCTGAA	0.303																																						dbGAP											0													76.0	77.0	77.0					12																	93213144		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1668T>G	12.37:g.93213144A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.G556	ENST00000322349.8	37	c.1668	CCDS31874.1	12																																																																																			EEA1	-	NULL	ENSG00000102189		0.303	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	261	0.00	0	A	NM_003566		93213144	93213144	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	silent	174	11.22	22	SNP	0.970	C
EFCAB13	124989	genome.wustl.edu	37	17	45481284	45481284	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45481284T>G	ENST00000331493.2	+	19	2469	c.2058T>G	c.(2056-2058)ggT>ggG	p.G686G	EFCAB13_ENST00000517484.1_Silent_p.G590G	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	686						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TGCTGGAAGGTGACATGATAG	0.338																																						dbGAP											0													107.0	111.0	109.0					17																	45481284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2058T>G	17.37:g.45481284T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V128|Q49AG9	Silent	SNP	NULL	p.G686	ENST00000331493.2	37	c.2058	CCDS11512.1	17																																																																																			EFCAB13	-	NULL	ENSG00000178852		0.338	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	138	0.72	1	T	NM_152347		45481284	45481284	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	silent	123	16.33	24	SNP	0.811	G
EFCAB6	64800	genome.wustl.edu	37	22	44131782	44131782	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:44131782A>C	ENST00000262726.7	-	7	852	c.599T>G	c.(598-600)gTt>gGt	p.V200G	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V48G|EFCAB6_ENST00000356087.4_Missense_Mutation_p.V94G|EFCAB6_ENST00000358439.4_Missense_Mutation_p.V94G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	200	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGTCTCCAGAACCCTTCTTAG	0.403																																						dbGAP											0													142.0	135.0	137.0					22																	44131782		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.599T>G	22.37:g.44131782A>C	ENSP00000262726:p.Val200Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.V200G	ENST00000262726.7	37	c.599	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405890	0.62288	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.49432	1.54;0.78;1.54;0.78	5.0	5.0	0.66597	EF-hand-like domain (1);	0.320118	0.23288	N	0.049825	T	0.69700	0.3140	M	0.84326	2.69	0.23430	N	0.997694	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.956;0.998;0.994;0.991	T	0.63668	-0.6585	10	0.40728	T	0.16	-22.0368	14.1074	0.65099	1.0:0.0:0.0:0.0	.	94;94;200;200	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	G	48;200;94;94	ENSP00000379533:V48G;ENSP00000262726:V200G;ENSP00000351219:V94G;ENSP00000348391:V94G	ENSP00000262726:V200G	V	-	2	0	EFCAB6	42463115	0.391000	0.25221	0.015000	0.15790	0.814000	0.46013	5.371000	0.66150	2.232000	0.73038	0.402000	0.26972	GTT	EFCAB6	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000186976		0.403	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	327	0.00	0	A	NM_022785		44131782	44131782	-1	no_errors	ENST00000262726	ensembl	human	known	69_37n	missense	392	10.09	44	SNP	0.038	C
EFEMP1	2202	genome.wustl.edu	37	2	56145146	56145146	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:56145146A>C	ENST00000394555.2	-	4	606	c.171T>G	c.(169-171)ggT>ggG	p.G57G	EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000355426.3_Silent_p.G57G|EFEMP1_ENST00000394554.1_Silent_p.G57G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	57	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.G57G(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTTCATTCCACCTTTACAAG	0.403																																					GBM(92;934 1319 7714 28760 40110)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											93.0	93.0	93.0					2																	56145146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.171T>G	2.37:g.56145146A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.G57	ENST00000394555.2	37	c.171	CCDS1857.1	2																																																																																			EFEMP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	ENSG00000115380		0.403	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	106	0.93	1	A			56145146	56145146	-1	no_errors	ENST00000355426	ensembl	human	known	69_37n	silent	70	18.60	16	SNP	0.975	C
EFEMP1	2202	genome.wustl.edu	37	2	56149694	56149694	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:56149694A>C	ENST00000394555.2	-	2	429				EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Intron|EFEMP1_ENST00000394554.1_Intron|EFEMP1_ENST00000497698.1_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGAGGCTCCACCATACTCAA	0.498																																					GBM(92;934 1319 7714 28760 40110)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.7-112T>G	2.37:g.56149694A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I4|B4DW75|D6W5D2|Q541U7	RNA	SNP	-	NULL	ENST00000394555.2	37	NULL	CCDS1857.1	2																																																																																			EFEMP1	-	-	ENSG00000115380		0.498	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	41	0.00	0	A			56149694	56149694	-1	no_errors	ENST00000497698	ensembl	human	known	69_37n	rna	25	28.57	10	SNP	0.000	C
EFTUD1	79631	genome.wustl.edu	37	15	82512144	82512144	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:82512144A>C	ENST00000268206.7	-	14	1628	c.1460T>G	c.(1459-1461)gTg>gGg	p.V487G	EFTUD1_ENST00000359445.3_Missense_Mutation_p.V436G	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	487					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CATACTTTCCACCTGTTGCTC	0.428																																						dbGAP											0													56.0	52.0	53.0					15																	82512144		1836	4088	5924	-	-	-	SO:0001583	missense	0			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1460T>G	15.37:g.82512144A>C	ENSP00000268206:p.Val487Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.V487G	ENST00000268206.7	37	c.1460	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.395934	0.01175	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.64438	-0.1;0.16	4.03	2.91	0.33838	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.835143	0.09633	U	0.776029	T	0.47284	0.1437	L	0.36672	1.1	0.18873	N	0.999986	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31916	-0.9926	10	0.23302	T	0.38	-5.0537	4.6447	0.12566	0.6616:0.1636:0.1748:0.0	.	436;487	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	G	487;436	ENSP00000268206:V487G;ENSP00000352418:V436G	ENSP00000268206:V487G	V	-	2	0	EFTUD1	80299199	0.109000	0.22037	0.189000	0.23252	0.015000	0.08874	0.165000	0.16564	0.711000	0.32018	0.477000	0.44152	GTG	EFTUD1	-	superfamily_Transl_elong_init/rib_B-barrel	ENSG00000140598		0.428	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	143	0.00	0	A	NM_024580		82512144	82512144	-1	no_errors	ENST00000268206	ensembl	human	known	69_37n	missense	142	18.86	33	SNP	0.023	C
EGF	1950	genome.wustl.edu	37	4	110902053	110902053	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:110902053T>G	ENST00000265171.5	+	15	2738	c.2293T>G	c.(2293-2295)Tgt>Ggt	p.C765G	EGF_ENST00000503392.1_Missense_Mutation_p.C765G|EGF_ENST00000509793.1_Missense_Mutation_p.C723G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	765	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AACTGCTTGGTGTTCGTGTCG	0.423																																						dbGAP											0													203.0	193.0	196.0					4																	110902053		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2293T>G	4.37:g.110902053T>G	ENSP00000265171:p.Cys765Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.C765G	ENST00000265171.5	37	c.2293	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904884	0.52333	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.99966	-10.09;-10.09;-10.09	4.89	3.7	0.42460	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.091527	0.85682	D	0.000000	D	0.99975	0.9992	H	0.98507	4.25	0.53688	D	0.999972	D;D;D	0.76494	0.992;0.999;0.991	P;D;P	0.74674	0.816;0.984;0.762	D	0.96166	0.9119	10	0.87932	D	0	.	8.6388	0.33964	0.0:0.0873:0.0:0.9127	.	765;723;765	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	723;765;765	ENSP00000424316:C723G;ENSP00000265171:C765G;ENSP00000421384:C765G	ENSP00000265171:C765G	C	+	1	0	EGF	111121502	1.000000	0.71417	0.590000	0.28732	0.675000	0.39556	5.650000	0.67944	0.827000	0.34685	0.459000	0.35465	TGT	EGF	-	pirsf_Pro-epidermal_GF,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000138798		0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	295	0.34	1	T			110902053	110902053	+1	no_errors	ENST00000265171	ensembl	human	known	69_37n	missense	240	13.98	39	SNP	0.954	G
EGR1	1958	genome.wustl.edu	37	5	137802702	137802702	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:137802702A>C	ENST00000239938.4	+	2	836	c.564A>C	c.(562-564)ccA>ccC	p.P188P		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	188					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCAGAGCCCACCCCTGAGCT	0.627																																						dbGAP											0													114.0	118.0	117.0					5																	137802702		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.564A>C	5.37:g.137802702A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P188	ENST00000239938.4	37	c.564	CCDS4206.1	5																																																																																			EGR1	-	pfam_DUF3446	ENSG00000120738		0.627	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	115	0.86	1	A	NM_001964		137802702	137802702	+1	no_errors	ENST00000239938	ensembl	human	known	69_37n	silent	58	19.44	14	SNP	1.000	C
EHBP1	23301	genome.wustl.edu	37	2	62974547	62974547	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:62974547T>G	ENST00000263991.5	+	3	604	c.122T>G	c.(121-123)gTg>gGg	p.V41G	EHBP1_ENST00000405289.1_Missense_Mutation_p.V41G|EHBP1_ENST00000431489.1_Missense_Mutation_p.V41G|EHBP1_ENST00000405015.3_Missense_Mutation_p.V41G|EHBP1_ENST00000354487.3_Missense_Mutation_p.V41G	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	41						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GATAAACTGGTGGTAGTTTGG	0.318																																						dbGAP											0													104.0	114.0	110.0					2																	62974547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.122T>G	2.37:g.62974547T>G	ENSP00000263991:p.Val41Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.V41G	ENST00000263991.5	37	c.122	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620337	0.46736	.	.	ENSG00000115504	ENST00000405015;ENST00000413434;ENST00000405482;ENST00000427809;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.58	3.14	0.36123	.	0.145264	0.45867	D	0.000329	T	0.55337	0.1914	M	0.61703	1.905	0.53688	D	0.999978	D;B;B;D	0.89917	1.0;0.006;0.058;0.989	D;B;B;D	0.85130	0.997;0.028;0.035;0.951	T	0.52457	-0.8573	10	0.62326	D	0.03	.	5.8082	0.18452	0.0:0.0868:0.1682:0.7449	.	41;41;41;41	Q8NDI1-2;A8K930;Q8NDI1-3;Q8NDI1	.;.;.;EHBP1_HUMAN	G	41;9;41;41;41;41;41;41	ENSP00000384143:V41G;ENSP00000392192:V9G;ENSP00000384829:V41G;ENSP00000404617:V41G;ENSP00000403783:V41G;ENSP00000263991:V41G;ENSP00000346482:V41G;ENSP00000385524:V41G	ENSP00000263991:V41G	V	+	2	0	EHBP1	62828051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.271000	0.65553	0.379000	0.24794	0.528000	0.53228	GTG	EHBP1	-	NULL	ENSG00000115504		0.318	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	329	0.00	0	T	NM_015252		62974547	62974547	+1	no_errors	ENST00000263991	ensembl	human	known	69_37n	missense	227	10.63	27	SNP	1.000	G
EHBP1	23301	genome.wustl.edu	37	2	63182766	63182766	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:63182766A>C	ENST00000263991.5	+	15	3018	c.2536A>C	c.(2536-2538)Acc>Ccc	p.T846P	EHBP1_ENST00000405289.1_Missense_Mutation_p.T811P|EHBP1_ENST00000431489.1_Missense_Mutation_p.T811P|EHBP1_ENST00000405015.3_Missense_Mutation_p.T811P|EHBP1_ENST00000354487.3_Missense_Mutation_p.T811P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	846						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAACACAGCCACCCCATTCTG	0.438																																						dbGAP											0													94.0	82.0	86.0					2																	63182766		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2536A>C	2.37:g.63182766A>C	ENSP00000263991:p.Thr846Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T846P	ENST00000263991.5	37	c.2536	CCDS1872.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.69|12.69	2.013701|2.013701	0.35511|0.35511	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000444311;ENST00000422032|ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.|T;T;T;T;T	.|0.74209	.|-0.82;-0.82;-0.8;-0.79;-0.79	5.69|5.69	1.78|1.78	0.24846|0.24846	.|.	.|0.318290	.|0.31519	.|N	.|0.007516	T|T	0.45115|0.45115	0.1326|0.1326	N|N	0.04508|0.04508	-0.205|-0.205	0.23620|0.23620	N|N	0.997272|0.997272	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.003;0.002	T|T	0.22487|0.22487	-1.0215|-1.0215	5|10	.|0.20046	.|T	.|0.44	.|.	5.5046|5.5046	0.16846|0.16846	0.5641:0.2911:0.1448:0.0|0.5641:0.2911:0.1448:0.0	.|.	.|811;811;846	.|Q8NDI1-2;Q8NDI1-3;Q8NDI1	.|.;.;EHBP1_HUMAN	P|P	70;6|811;811;846;811;811	.|ENSP00000384143:T811P;ENSP00000403783:T811P;ENSP00000263991:T846P;ENSP00000346482:T811P;ENSP00000385524:T811P	.|ENSP00000263991:T846P	H|T	+|+	2|1	0|0	EHBP1|EHBP1	63036270|63036270	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.848000|0.848000	0.48234|0.48234	1.433000|1.433000	0.34947|0.34947	0.429000|0.429000	0.26202|0.26202	0.533000|0.533000	0.62120|0.62120	CAC|ACC	EHBP1	-	NULL	ENSG00000115504		0.438	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	88	0.00	0	A	NM_015252		63182766	63182766	+1	no_errors	ENST00000263991	ensembl	human	known	69_37n	missense	100	15.25	18	SNP	0.997	C
EHBP1	23301	genome.wustl.edu	37	2	63217921	63217921	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:63217921A>C	ENST00000263991.5	+	18	3374	c.2892A>C	c.(2890-2892)tcA>tcC	p.S964S	EHBP1_ENST00000405289.1_Silent_p.S929S|EHBP1_ENST00000431489.1_Silent_p.S893S|EHBP1_ENST00000405015.3_Silent_p.S893S|EHBP1_ENST00000354487.3_Silent_p.S929S|EHBP1_ENST00000496857.1_3'UTR	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	964						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGGCAAATTCACCCTCCAGTG	0.413																																						dbGAP											0													85.0	90.0	88.0					2																	63217921		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2892A>C	2.37:g.63217921A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	NULL	p.T124P	ENST00000263991.5	37	c.370	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	A	7.675	0.687776	0.14973	.	.	ENSG00000115504	ENST00000422032	.	.	.	5.24	0.945	0.19543	.	.	.	.	.	T	0.50854	0.1640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37430	-0.9706	4	.	.	.	.	4.7793	0.13194	0.6198:0.2104:0.0756:0.0942	.	.	.	.	P	124	.	.	T	+	1	0	EHBP1	63071425	0.153000	0.22777	0.638000	0.29380	0.688000	0.40055	0.458000	0.21892	0.276000	0.22118	0.533000	0.62120	ACC	EHBP1	-	NULL	ENSG00000115504		0.413	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	114	0.00	0	A	NM_015252		63217921	63217921	+1	no_start_codon:pseudogene	ENST00000422032	ensembl	human	novel	69_37n	missense	117	15.11	21	SNP	0.856	C
EHMT2	10919	genome.wustl.edu	37	6	31854604	31854604	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31854604T>G	ENST00000375537.4	-	17	2195	c.2189A>C	c.(2188-2190)cAc>cCc	p.H730P	EHMT2_ENST00000375528.4_Missense_Mutation_p.H753P|EHMT2_ENST00000395728.3_Missense_Mutation_p.H787P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.H696P|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	730					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TACCTCCAGGTGGTTGTTCAC	0.637																																						dbGAP											0													156.0	143.0	148.0					6																	31854604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2189A>C	6.37:g.31854604T>G	ENSP00000364687:p.His730Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.H787P	ENST00000375537.4	37	c.2360	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433483	0.83776	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.32	5.32	0.75619	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	H	0.94771	3.58	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.77557	0.968;0.947;0.968;0.99	D	0.88674	0.3197	10	0.87932	D	0	.	14.3237	0.66505	0.0:0.0:0.0:1.0	.	753;696;730;544	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	P	787;753;696;730;544	ENSP00000379078:H787P;ENSP00000364678:H753P;ENSP00000364680:H696P;ENSP00000364687:H730P	ENSP00000364678:H753P	H	-	2	0	EHMT2	31962583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.636000	0.61339	2.009000	0.58944	0.529000	0.55759	CAC	EHMT2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000204371		0.637	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	98	0.00	0	T	NM_006709		31854604	31854604	-1	no_errors	ENST00000395728	ensembl	human	known	69_37n	missense	58	16.90	12	SNP	1.000	G
EIF2B2	8892	genome.wustl.edu	37	14	75473393	75473393	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75473393A>C	ENST00000266126.5	+	6	887	c.807A>C	c.(805-807)gcA>gcC	p.A269A	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	269					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TCGTCTGTGCACCTATGTTCA	0.522																																						dbGAP											0													360.0	302.0	322.0					14																	75473393		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.807A>C	14.37:g.75473393A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43201	Silent	SNP	pfam_IF-2B-related	p.A269	ENST00000266126.5	37	c.807	CCDS9836.1	14																																																																																			EIF2B2	-	pfam_IF-2B-related	ENSG00000119718		0.522	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	217	0.00	0	A	NM_014239		75473393	75473393	+1	no_errors	ENST00000266126	ensembl	human	known	69_37n	silent	232	11.74	31	SNP	0.079	C
EIF2B5	8893	genome.wustl.edu	37	3	183859753	183859753	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:183859753T>G	ENST00000273783.3	+	8	1319	c.1197T>G	c.(1195-1197)ggT>ggG	p.G399G	EIF2B5_ENST00000444495.1_Silent_p.G399G	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	399					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGTGGCAGGGTGTTCGAGTGG	0.562																																						dbGAP											0													128.0	114.0	119.0					3																	183859753		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1197T>G	3.37:g.183859753T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q541Z1|Q96D04	Silent	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.G399	ENST00000273783.3	37	c.1197	CCDS3252.1	3																																																																																			EIF2B5	-	superfamily_Trimer_LpxA-like	ENSG00000145191		0.562	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	65	0.00	0	T			183859753	183859753	+1	no_errors	ENST00000273783	ensembl	human	known	69_37n	silent	54	21.74	15	SNP	0.648	G
EIF2D	1939	genome.wustl.edu	37	1	206773123	206773123	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:206773123A>C	ENST00000271764.2	-	9	1224	c.1016T>G	c.(1015-1017)gTg>gGg	p.V339G	EIF2D_ENST00000367114.3_Missense_Mutation_p.V215G|EIF2D_ENST00000472709.2_5'Flank	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	339					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AATGCTCTCCACCCCTTTGCT	0.602																																						dbGAP											0													157.0	131.0	140.0					1																	206773123		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1016T>G	1.37:g.206773123A>C	ENSP00000271764:p.Val339Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.V339G	ENST00000271764.2	37	c.1016	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399532	0.83120	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.46063	0.88;1.42	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.957	T	0.54503	-0.8284	10	0.23891	T	0.37	-2.4772	14.9021	0.70687	1.0:0.0:0.0:0.0	.	215;339	P41214-2;P41214	.;EIF2D_HUMAN	G	215;339	ENSP00000356081:V215G;ENSP00000271764:V339G	ENSP00000271764:V339G	V	-	2	0	EIF2D	204839746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.016000	0.93645	2.192000	0.70111	0.460000	0.39030	GTG	EIF2D	-	NULL	ENSG00000143486		0.602	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	128	0.00	0	A	NM_006893		206773123	206773123	-1	no_errors	ENST00000271764	ensembl	human	known	69_37n	missense	171	20.83	45	SNP	1.000	C
EIF3A	8661	genome.wustl.edu	37	10	120797950	120797950	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:120797950A>C	ENST00000369144.3	-	20	3655	c.3528T>G	c.(3526-3528)ggT>ggG	p.G1176G	EIF3A_ENST00000541549.1_Splice_Site_p.G1142G	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTCTCCATCCACCTGTTTTTT	0.378																																						dbGAP											0													135.0	139.0	137.0					10																	120797950		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3527-1T>G	10.37:g.120797950A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	pfam_PCI_dom,smart_PCI_dom	p.G1176	ENST00000369144.3	37	c.3528	CCDS7608.1	10																																																																																			EIF3A	-	NULL	ENSG00000107581		0.378	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	194	0.00	0	A	NM_003750	Silent	120797950	120797950	-1	no_errors	ENST00000369144	ensembl	human	known	69_37n	silent	185	12.96	28	SNP	1.000	C
EIF4A1	1973	genome.wustl.edu	37	17	7480972	7480972	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7480972T>G	ENST00000293831.8	+	8	870	c.854T>G	c.(853-855)gTg>gGg	p.V285G	SNORD10_ENST00000459579.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000577269.1_Missense_Mutation_p.V285G|SNORA48_ENST00000386847.1_RNA|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.V285G	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	285	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGAGGAAGGTGGACTGGCTC	0.557																																					Melanoma(120;278 1668 15796 27423 46368)	dbGAP											0													137.0	127.0	130.0					17																	7480972		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.854T>G	17.37:g.7480972T>G	ENSP00000293831:p.Val285Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	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,pfscan_RNA_helicase_DEAD_Q_motif	p.V285G	ENST00000293831.8	37	c.854	CCDS11113.1	17	.	.	.	.	.	.	.	.	.	.	T	13.85	2.361498	0.41801	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.05580	3.42	5.35	5.35	0.76521	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	M	0.87456	2.885	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.914	D;D;D	0.97110	1.0;0.999;0.918	T	0.07347	-1.0777	10	0.87932	D	0	-38.0766	13.2955	0.60294	0.0:0.0:0.0:1.0	.	285;285;285	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	G	285;108	ENSP00000293831:V285G	ENSP00000293831:V285G	V	+	2	0	EIF4A1	7421696	1.000000	0.71417	0.945000	0.38365	0.964000	0.63967	7.671000	0.83941	2.035000	0.60131	0.459000	0.35465	GTG	EIF4A1	-	pfscan_Helicase_C	ENSG00000161960		0.557	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	219	0.45	1	T	NM_001416		7480972	7480972	+1	no_errors	ENST00000293831	ensembl	human	known	69_37n	missense	110	15.38	20	SNP	0.997	G
EIF4ENIF1	56478	genome.wustl.edu	37	22	31837931	31837931	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:31837931T>G	ENST00000397525.1	-	17	2603	c.2380A>C	c.(2380-2382)Acc>Ccc	p.T794P	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.T620P|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T794P|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.T449P|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T770P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	794						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATGCCAAGGTGGGTGTTTTT	0.527																																						dbGAP											0													321.0	296.0	305.0					22																	31837931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2380A>C	22.37:g.31837931T>G	ENSP00000380659:p.Thr794Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.T794P	ENST00000397525.1	37	c.2380	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177478	0.57692	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.03	6.03	0.97812	.	0.088542	0.85682	D	0.000000	T	0.76673	0.4020	M	0.61703	1.905	0.58432	D	0.999995	D;D;B;B	0.76494	0.999;0.999;0.137;0.236	D;D;B;B	0.78314	0.991;0.991;0.091;0.031	T	0.76599	-0.2900	9	0.46703	T	0.11	-15.0387	15.7467	0.77949	0.0:0.0:0.0:1.0	.	620;794;619;770	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	P	620;794;794;770;449	.	ENSP00000328103:T794P	T	-	1	0	EIF4ENIF1	30167931	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.078000	0.41567	2.302000	0.77476	0.533000	0.62120	ACC	EIF4ENIF1	-	NULL	ENSG00000184708		0.527	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	150	0.66	1	T	NM_019843		31837931	31837931	-1	no_errors	ENST00000330125	ensembl	human	known	69_37n	missense	95	22.40	28	SNP	1.000	G
EIF4G1	1981	genome.wustl.edu	37	3	184049067	184049067	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:184049067T>G	ENST00000346169.2	+	29	4446	c.4175T>G	c.(4174-4176)gTg>gGg	p.V1392G	EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1305G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1197G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1352G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1399G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1228G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1353G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1399G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1306G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1196G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1393G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1399G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1229G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1392G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1392					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTAAAAAGGTGGGGACGCTG	0.502																																						dbGAP											0													171.0	182.0	179.0					3																	184049067		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4175T>G	3.37:g.184049067T>G	ENSP00000316879:p.Val1392Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.V1399G	ENST00000346169.2	37	c.4196	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299386	0.60195	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.41	4.26	0.50523	Armadillo-type fold (1);	0.183522	0.46758	D	0.000275	T	0.39358	0.1075	M	0.72894	2.215	0.80722	D	1	P;P;P	0.43701	0.815;0.815;0.815	B;B;B	0.35413	0.202;0.202;0.202	T	0.48937	-0.8990	10	0.87932	D	0	-12.2825	4.4764	0.11746	0.0:0.2854:0.0:0.7146	.	1399;1393;1392	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	G	1392;1352;1305;1399;1228;1399;1306;1393;1392;1399;1353;1229;1197;1196	ENSP00000316879:V1392G;ENSP00000391935:V1352G;ENSP00000376320:V1305G;ENSP00000371767:V1399G;ENSP00000317600:V1228G;ENSP00000338020:V1399G;ENSP00000407682:V1306G;ENSP00000343450:V1393G;ENSP00000323737:V1392G;ENSP00000416255:V1399G;ENSP00000395974:V1353G;ENSP00000399858:V1229G;ENSP00000411826:V1197G;ENSP00000404754:V1196G	ENSP00000323737:V1392G	V	+	2	0	EIF4G1	185531761	0.969000	0.33509	1.000000	0.80357	0.955000	0.61496	1.844000	0.39269	2.062000	0.61559	0.456000	0.33151	GTG	EIF4G1	-	superfamily_ARM-type_fold	ENSG00000114867		0.502	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	92	0.00	0	T	NM_182917		184049067	184049067	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	120	22.58	35	SNP	1.000	G
EIF4G2	1982	genome.wustl.edu	37	11	10828816	10828816	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:10828816A>C	ENST00000526148.1	-	2	537	c.27T>G	c.(25-27)ggT>ggG	p.G9G	EIF4G2_ENST00000396525.2_Silent_p.G9G|RP11-685M7.3_ENST00000499765.1_RNA|EIF4G2_ENST00000525995.1_Intron|EIF4G2_ENST00000339995.5_Silent_p.G9G|EIF4G2_ENST00000525681.1_Silent_p.G9G	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AACGAGAAGCACCCCCTTCTG	0.438																																						dbGAP											0													131.0	145.0	140.0					11																	10828816		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.27T>G	11.37:g.10828816A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MIF4G-like_typ-3,pfam_W2_domain,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.G9	ENST00000526148.1	37	c.27	CCDS31428.1	11																																																																																			EIF4G2	-	NULL	ENSG00000110321		0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	EIF4G2	HGNC	protein_coding	OTTHUMT00000386603.1	192	0.00	0	A	NM_001418		10828816	10828816	-1	no_start_codon	ENST00000339995	ensembl	human	known	69_37n	silent	154	17.20	32	SNP	1.000	C
EIF6	3692	genome.wustl.edu	37	20	33867854	33867854	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:33867854A>C	ENST00000374450.3	-	5	701	c.437T>G	c.(436-438)gTg>gGg	p.V146G	MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374436.3_Missense_Mutation_p.V146G|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.V127G|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000435366.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCCTACTAGCACCTGGTCGGC	0.493																																						dbGAP											0													153.0	147.0	149.0					20																	33867854		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.437T>G	20.37:g.33867854A>C	ENSP00000363574:p.Val146Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6	p.V146G	ENST00000374450.3	37	c.437	CCDS13249.1	20	.	.	.	.	.	.	.	.	.	.	A	20.3	3.960622	0.74016	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.01	5.01	0.66863	.	0.064335	0.64402	D	0.000008	T	0.78052	0.4223	H	0.96015	3.755	0.80722	D	1	P;P	0.45531	0.801;0.86	P;B	0.47346	0.544;0.444	D	0.84672	0.0712	9	0.66056	D	0.02	-38.4467	12.8064	0.57616	1.0:0.0:0.0:0.0	.	127;146	B7ZBG9;P56537	.;IF6_HUMAN	G	146;127;146	.	ENSP00000363559:V146G	V	-	2	0	EIF6	33331268	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.050000	0.93843	2.041000	0.60428	0.454000	0.30748	GTG	EIF6	-	pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6	ENSG00000242372		0.493	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	177	0.00	0	A	NM_002212		33867854	33867854	-1	no_errors	ENST00000374436	ensembl	human	known	69_37n	missense	107	16.79	22	SNP	1.000	C
ELF4	2000	genome.wustl.edu	37	X	129203483	129203483	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:129203483T>G	ENST00000308167.5	-	8	1358	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	ELF4_ENST00000335997.7_Missense_Mutation_p.T327P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTTCGCCGGGTGGTACTGGCA	0.617			T	ERG	AML																																	dbGAP		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													69.0	74.0	73.0					X																	129203483		2203	4300	6503	-	-	-	SO:0001583	missense	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.979A>C	X.37:g.129203483T>G	ENSP00000311280:p.Thr327Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.T327P	ENST00000308167.5	37	c.979	CCDS14617.1	X	.	.	.	.	.	.	.	.	.	.	T	8.425	0.847235	0.17034	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.52754	0.65;0.65	5.14	-9.63	0.00544	.	1.580150	0.03254	N	0.182313	T	0.19604	0.0471	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08911	-1.0699	10	0.30078	T	0.28	.	0.7026	0.00910	0.2014:0.2228:0.2968:0.2791	.	327	Q99607	ELF4_HUMAN	P	327	ENSP00000338608:T327P;ENSP00000311280:T327P	ENSP00000311280:T327P	T	-	1	0	ELF4	129031164	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.476000	0.02333	-1.725000	0.01371	-0.394000	0.06481	ACC	ELF4	-	NULL	ENSG00000102034		0.617	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	133	0.74	1	T	NM_001421		129203483	129203483	-1	no_errors	ENST00000308167	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	0.001	G
ELMOD3	84173	genome.wustl.edu	37	2	85617536	85617536	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:85617536A>C	ENST00000409890.2	+	13	1610				ELMOD3_ENST00000315658.7_Missense_Mutation_p.H364P|ELMOD3_ENST00000409344.3_Intron|ELMOD3_ENST00000409013.3_Intron|ELMOD3_ENST00000490508.1_Intron|ELMOD3_ENST00000393852.4_Intron			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3						phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TCCATCACCCACCCCCTGGAG	0.478																																						dbGAP											0													137.0	144.0	142.0					2																	85617536		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.943+148A>C	2.37:g.85617536A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.H364P	ENST00000409890.2	37	c.1091	CCDS46352.1	2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282426	0.23392	.	.	ENSG00000115459	ENST00000315658	T	0.35789	1.29	4.11	-1.71	0.08133	.	3.450530	0.00780	N	0.001267	T	0.18718	0.0449	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05178	-1.0901	8	.	.	.	0.3507	0.698	0.00902	0.4696:0.1694:0.1973:0.1637	.	364	Q96FG2-6	.	P	364	ENSP00000318264:H364P	.	H	+	2	0	ELMOD3	85471047	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.015000	0.13355	-0.526000	0.06383	-0.290000	0.09829	CAC	ELMOD3	-	NULL	ENSG00000115459		0.478	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD3	HGNC	protein_coding	OTTHUMT00000329124.1	242	0.00	0	A	NM_032213		85617536	85617536	+1	no_errors	ENST00000315658	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	0.000	C
ELP2	55250	genome.wustl.edu	37	18	33726233	33726233	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:33726233T>G	ENST00000358232.6	+	11	1077	c.1014T>G	c.(1012-1014)ggT>ggG	p.G338G	ELP2_ENST00000350494.6_Intron|ELP2_ENST00000542824.1_Intron|ELP2_ENST00000442325.2_Silent_p.G403G|ELP2_ENST00000351393.6_Silent_p.G312G|ELP2_ENST00000423854.2_Silent_p.G268G	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	338					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GTGAAGTAGGTGGGAATACTT	0.403																																						dbGAP											0													247.0	237.0	240.0					18																	33726233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1014T>G	18.37:g.33726233T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G338	ENST00000358232.6	37	c.1014	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	T	9.662	1.144317	0.21205	.	.	ENSG00000134759	ENST00000535093	.	.	.	5.48	0.32	0.15878	.	.	.	.	.	T	0.43344	0.1243	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	-20.178	2.9032	0.05712	0.2996:0.2519:0.0:0.4485	.	.	.	.	G	159	.	.	V	+	2	0	ELP2	31980231	0.999000	0.42202	0.991000	0.47740	0.939000	0.58152	0.416000	0.21198	0.042000	0.15717	0.260000	0.18958	GTG	ELP2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.403	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	323	0.00	0	T	NM_018255		33726233	33726233	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	silent	165	14.51	28	SNP	0.996	G
EMC1	23065	genome.wustl.edu	37	1	19546202	19546202	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19546202A>C	ENST00000477853.1	-	22	2715				EMC1_ENST00000480380.1_Intron|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Intron|EMC1_ENST00000375199.3_Intron	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1							ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCTGCAAAACACCAGCCGGGA	0.498																																						dbGAP											0													76.0	67.0	70.0					1																	19546202		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2673-10T>G	1.37:g.19546202A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	RNA	SNP	-	NULL	ENST00000477853.1	37	NULL	CCDS190.1	1																																																																																			EMC1	-	-	ENSG00000127463		0.498	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	140	0.00	0	A	NM_015047		19546202	19546202	-1	no_errors	ENST00000461353	ensembl	human	known	69_37n	rna	82	21.15	22	SNP	0.987	C
EMC7	56851	genome.wustl.edu	37	15	34393964	34393964	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:34393964A>C	ENST00000256545.4	-	1	185	c.77T>G	c.(76-78)gTg>gGg	p.V26G	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	26						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AGCCCCGGGCACCTCCGAGCT	0.642																																						dbGAP											0													91.0	100.0	97.0					15																	34393964		2201	4298	6499	-	-	-	SO:0001583	missense	0			AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.77T>G	15.37:g.34393964A>C	ENSP00000256545:p.Val26Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC00|Q96ED5	Splice_Site	SNP	-	e1+2	ENST00000256545.4	37	c.17+2	CCDS10032.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.74|14.74	2.624485|2.624485	0.46840|0.46840	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000528949|ENST00000256545	.|.	.|.	.|.	4.96|4.96	-0.317|-0.317	0.12736|0.12736	.|.	.|0.591658	.|0.17797	.|N	.|0.161707	.|T	.|0.23451	.|0.0567	N|N	0.08118|0.08118	0|0	0.46458|0.46458	D|D	0.999058|0.999058	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.04961	.|-1.0915	.|9	.|0.15952	.|T	.|0.53	.|-1.432	4.7052|4.7052	0.12846|0.12846	0.3668:0.3495:0.2837:0.0|0.3668:0.3495:0.2837:0.0	.|.	.|26	.|Q9NPA0	.|CO024_HUMAN	.|G	-1|26	.|.	.|ENSP00000256545:V26G	.|V	-|-	.|2	.|0	C15orf24|C15orf24	32181256|32181256	0.001000|0.001000	0.12720|0.12720	0.984000|0.984000	0.44739|0.44739	0.975000|0.975000	0.68041|0.68041	0.062000|0.062000	0.14389|0.14389	0.057000|0.057000	0.16193|0.16193	0.377000|0.377000	0.23210|0.23210	.|GTG	EMC7	-	-	ENSG00000134153		0.642	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EMC7	HGNC	protein_coding	OTTHUMT00000251519.1	74	0.00	0	A	NM_020154		34393964	34393964	-1	no_stop_codon	ENST00000528949	ensembl	human	putative	69_37n	splice_site	51	23.53	16	SNP	0.976	C
EML3	256364	genome.wustl.edu	37	11	62376502	62376502	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62376502T>C	ENST00000394773.2	-	7	1168	c.861A>G	c.(859-861)ggA>ggG	p.G287G	EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Silent_p.G287G|RP11-831H9.3_ENST00000532626.1_RNA|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000278845.4_Silent_p.G288G|EML3_ENST00000494176.2_Silent_p.G259G|EML3_ENST00000531557.1_Silent_p.G70G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	287	Poly-Gly.					cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGGGCCTCCTCCAGGCCGGT	0.632																																						dbGAP											0													114.0	120.0	118.0					11																	62376502		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.861A>G	11.37:g.62376502T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R282G	ENST00000394773.2	37	c.844	CCDS8023.2	11	.	.	.	.	.	.	.	.	.	.	T	8.903	0.956760	0.18507	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.69	2.04	0.26737	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47911	-0.9080	4	.	.	.	-10.4892	7.5171	0.27606	0.0:0.6402:0.0:0.3598	.	.	.	.	G	282	.	.	R	-	1	2	EML3	62133078	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.815000	0.27253	0.608000	0.30000	-0.408000	0.06270	AGG	EML3	-	superfamily_WD40_repeat_dom	ENSG00000149499		0.632	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	74	0.00	0	T	NM_153265		62376502	62376502	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000394776	ensembl	human	novel	69_37n	missense	38	20.83	10	SNP	0.998	C
EMR1	2015	genome.wustl.edu	37	19	6896450	6896450	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:6896450A>C	ENST00000312053.4	+	3	173	c.136A>C	c.(136-138)Acc>Ccc	p.T46P	EMR1_ENST00000250572.8_Missense_Mutation_p.T46P|EMR1_ENST00000381407.5_Missense_Mutation_p.T46P|EMR1_ENST00000381404.4_Missense_Mutation_p.T46P|EMR1_ENST00000601198.1_3'UTR|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000450315.3_Missense_Mutation_p.T46P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	46	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGCTTATGCCACCTGCACCAA	0.453																																						dbGAP											0													198.0	170.0	180.0					19																	6896450		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.136A>C	19.37:g.6896450A>C	ENSP00000311545:p.Thr46Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.T46P	ENST00000312053.4	37	c.136	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402985	0.42613	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	3.91	0.268	0.15626	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95943	0.8679	H	0.95328	3.655	0.09310	N	1	P;P;D;D;D	0.89917	0.682;0.682;0.999;0.991;1.0	B;B;D;P;D	0.79784	0.239;0.176;0.993;0.68;0.972	D	0.86889	0.2047	9	0.44086	T	0.13	.	2.9041	0.05715	0.5705:0.0:0.2393:0.1902	.	46;46;46;46;46	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	P	46	ENSP00000311545:T46P;ENSP00000370811:T46P;ENSP00000250572:T46P;ENSP00000370814:T46P;ENSP00000405974:T46P	ENSP00000250572:T46P	T	+	1	0	EMR1	6847450	0.001000	0.12720	0.001000	0.08648	0.100000	0.18952	1.229000	0.32600	0.089000	0.17243	0.443000	0.29094	ACC	EMR1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000174837		0.453	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	299	0.00	0	A			6896450	6896450	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	missense	229	11.79	31	SNP	0.002	C
ENAM	10117	genome.wustl.edu	37	4	71500213	71500213	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71500213A>C	ENST00000396073.3	+	6	680	c.399A>C	c.(397-399)ccA>ccC	p.P133P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	133					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAAAAAAGCCACCACAAAAGC	0.483																																						dbGAP											0													93.0	100.0	98.0					4																	71500213		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.399A>C	4.37:g.71500213A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	Silent	SNP	NULL	p.P133	ENST00000396073.3	37	c.399	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.483	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	175	0.00	0	A	NM_031889		71500213	71500213	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	silent	219	12.00	30	SNP	0.022	C
ENAM	10117	genome.wustl.edu	37	4	71501557	71501557	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71501557A>C	ENST00000396073.3	+	7	761	c.480A>C	c.(478-480)ccA>ccC	p.P160P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	160					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGCATTCCCACCATTTGGAA	0.328																																						dbGAP											0													120.0	132.0	128.0					4																	71501557		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.480A>C	4.37:g.71501557A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	Silent	SNP	NULL	p.P160	ENST00000396073.3	37	c.480	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.328	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	211	0.94	2	A	NM_031889		71501557	71501557	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	silent	172	16.91	35	SNP	1.000	C
ENAM	10117	genome.wustl.edu	37	4	71501593	71501593	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71501593A>C	ENST00000396073.3	+	7	797	c.516A>C	c.(514-516)ccA>ccC	p.P172P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	172					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCAACAACCACCATGGCAAA	0.294																																						dbGAP											0													131.0	142.0	138.0					4																	71501593		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.516A>C	4.37:g.71501593A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	Silent	SNP	NULL	p.P172	ENST00000396073.3	37	c.516	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.294	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	239	0.83	2	A	NM_031889		71501593	71501593	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	silent	187	15.25	34	SNP	1.000	C
ENO2	2026	genome.wustl.edu	37	12	7031220	7031220	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:7031220T>G	ENST00000535366.1	+	9	1695	c.1069T>G	c.(1069-1071)Tgc>Ggc	p.C357G	ENO2_ENST00000545045.2_Splice_Site_p.C238G|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000541477.1_Splice_Site_p.C357G|ENO2_ENST00000229277.1_Splice_Site_p.C357G|ENO2_ENST00000538763.1_Splice_Site_p.C314G|ENO2_ENST00000544774.1_Splice_Site_p.C314G			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	357					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGATACAGGTGCAAGCTGGC	0.562																																						dbGAP											0													94.0	93.0	93.0					12																	7031220		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1068-1T>G	12.37:g.7031220T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.C357G	ENST00000535366.1	37	c.1069	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529804	0.85706	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	5.29	5.29	0.74685	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	H	0.94734	3.575	0.80722	D	1	P;D	0.57571	0.954;0.98	D;D	0.70935	0.934;0.971	T	0.67023	-0.5775	10	0.66056	D	0.02	-17.8675	15.2083	0.73198	0.0:0.0:0.0:1.0	.	314;357	B7Z2X9;P09104	.;ENOG_HUMAN	G	357;357;314;314;357;238	ENSP00000438873:C357G;ENSP00000229277:C357G;ENSP00000441490:C314G;ENSP00000446195:C314G;ENSP00000437402:C357G;ENSP00000438062:C238G	ENSP00000229277:C357G	C	+	1	0	ENO2	6901481	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.013000	0.88655	2.143000	0.66587	0.448000	0.29417	TGC	ENO2	-	pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase	ENSG00000111674		0.562	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	72	0.00	0	T		Missense_Mutation	7031220	7031220	+1	no_errors	ENST00000229277	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	G
ENPP1	5167	genome.wustl.edu	37	6	132201104	132201104	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:132201104A>C	ENST00000360971.2	+	20	2050	c.2030A>C	c.(2029-2031)cAc>cCc	p.H677P		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	677	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTTTCCCAGCACCAGTTTATG	0.433																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											0													206.0	185.0	192.0					6																	132201104		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2030A>C	6.37:g.132201104A>C	ENSP00000354238:p.His677Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.H677P	ENST00000360971.2	37	c.2030	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963029	0.34659	.	.	ENSG00000197594	ENST00000360971	T	0.66460	-0.21	5.69	4.53	0.55603	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.774806	0.13024	N	0.419872	T	0.55465	0.1922	M	0.78637	2.42	0.27123	N	0.9621	P	0.42203	0.773	B	0.43623	0.425	T	0.50550	-0.8815	10	0.34782	T	0.22	-7.3339	11.1635	0.48528	0.9273:0.0:0.0727:0.0	.	677	P22413	ENPP1_HUMAN	P	677	ENSP00000354238:H677P	ENSP00000354238:H677P	H	+	2	0	ENPP1	132242797	0.001000	0.12720	1.000000	0.80357	0.370000	0.29829	1.281000	0.33214	0.991000	0.38814	0.460000	0.39030	CAC	ENPP1	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000197594		0.433	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	288	0.00	0	A			132201104	132201104	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	missense	186	11.00	23	SNP	1.000	C
ENPP4	22875	genome.wustl.edu	37	6	46107848	46107848	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:46107848A>C	ENST00000321037.4	+	2	758	c.528A>C	c.(526-528)ccA>ccC	p.P176P		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	176					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ATTCGAACCCACCAGTCACCT	0.373																																						dbGAP											0													112.0	111.0	111.0					6																	46107848		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.528A>C	6.37:g.46107848A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G1|Q7L2N1	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P176	ENST00000321037.4	37	c.528	CCDS34468.1	6																																																																																			ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.373	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	300	0.00	0	A			46107848	46107848	+1	no_errors	ENST00000321037	ensembl	human	known	69_37n	silent	275	10.13	31	SNP	0.592	C
ENPP3	5169	genome.wustl.edu	37	6	132043535	132043535	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:132043535A>C	ENST00000414305.1	+	19	2064	c.1736A>C	c.(1735-1737)cAc>cCc	p.H579P	ENPP3_ENST00000358229.5_Missense_Mutation_p.H579P|ENPP3_ENST00000357639.3_Missense_Mutation_p.H579P			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	579					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTCTGCCCTCACCTACAAAAT	0.453																																						dbGAP											0													152.0	128.0	136.0					6																	132043535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1736A>C	6.37:g.132043535A>C	ENSP00000406261:p.His579Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.H579P	ENST00000414305.1	37	c.1736	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	A	8.429	0.848145	0.17034	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.74106	-0.73;-0.73;-0.81	5.58	-3.83	0.04269	.	3.261360	0.01571	N	0.020576	T	0.23451	0.0567	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14448	-1.0472	10	0.42905	T	0.14	2.4979	2.7098	0.05171	0.2548:0.4288:0.0791:0.2372	.	579	O14638	ENPP3_HUMAN	P	579	ENSP00000406261:H579P;ENSP00000350265:H579P;ENSP00000350964:H579P	ENSP00000350265:H579P	H	+	2	0	ENPP3	132085228	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.129000	0.01313	-0.408000	0.07565	0.528000	0.53228	CAC	ENPP3	-	NULL	ENSG00000154269		0.453	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	151	0.66	1	A			132043535	132043535	+1	no_errors	ENST00000357639	ensembl	human	known	69_37n	missense	144	11.04	18	SNP	0.000	C
ENPP1	5167	genome.wustl.edu	37	6	132203610	132203610	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:132203610A>C	ENST00000360971.2	+	21	2246	c.2226A>C	c.(2224-2226)ccA>ccC	p.P742P		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	742	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCCTCTCCCCACCACGTAAGT	0.353																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											0													108.0	113.0	111.0					6																	132203610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2226A>C	6.37:g.132203610A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P742	ENST00000360971.2	37	c.2226	CCDS5150.2	6																																																																																			ENPP1	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000197594		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	181	0.00	0	A			132203610	132203610	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	silent	111	21.13	30	SNP	0.912	C
RNF186	54546	genome.wustl.edu	37	1	20141048	20141048	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:20141048T>G	ENST00000375121.2	-	1	723	c.547A>C	c.(547-549)Acc>Ccc	p.T183P	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	183						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATGAAGGTGAGCACCCAT	0.647																																						dbGAP											0													73.0	78.0	77.0					1																	20141048		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.547A>C	1.37:g.20141048T>G	ENSP00000364263:p.Thr183Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GE0	Splice_Site	SNP	-	NULL	ENST00000375121.2	37	c.NULL	CCDS199.1	1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928979	0.34002	.	.	ENSG00000178828	ENST00000375121	T	0.33654	1.4	5.81	-2.31	0.06765	.	1.133600	0.06643	N	0.761446	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	P	0.41265	0.744	B	0.37198	0.243	T	0.16305	-1.0407	10	0.56958	D	0.05	-2.2022	5.3689	0.16129	0.1824:0.4863:0.0:0.3313	.	183	Q9NXI6	RN186_HUMAN	P	183	ENSP00000364263:T183P	ENSP00000364263:T183P	T	-	1	0	RNF186	20013635	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-0.266000	0.08631	-0.363000	0.08101	-0.408000	0.06270	ACC	RP11-91K11.2	-	-	ENSG00000235434		0.647	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235434	Clone_based_vega_gene	protein_coding	OTTHUMT00000007694.1	52	0.00	0	T	NM_019062		20141048	20141048	+1	no_errors	ENST00000454736	ensembl	human	putative	69_37n	splice_site	26	21.21	7	SNP	0.000	G
THBS3	7059	genome.wustl.edu	37	1	155169993	155169993	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155169993A>C	ENST00000368378.3	-	15	1729				RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Intron|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3						bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGTCTCCCCACCCAGAGGAC	0.488																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1709-89T>G	1.37:g.155169993A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVR8|B4DQ20|Q8WV34	RNA	SNP	-	NULL	ENST00000368378.3	37	NULL	CCDS1099.1	1																																																																																			RP11-263K19.4	-	-	ENSG00000231064		0.488	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231064	Clone_based_vega_gene	protein_coding	OTTHUMT00000086856.1	33	0.00	0	A	NM_007112		155169993	155169993	+1	no_errors	ENST00000436772	ensembl	human	known	69_37n	rna	65	17.72	14	SNP	0.000	C
ENTPD1	953	genome.wustl.edu	37	10	97604242	97604242	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:97604242T>G	ENST00000371205.4	+	5	706	c.423T>G	c.(421-423)agT>agG	p.S141R	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.S148R|ENTPD1_ENST00000371207.3_Missense_Mutation_p.S153R|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_Missense_Mutation_p.S3R|ENTPD1_ENST00000543964.1_Missense_Mutation_p.S33R|ENTPD1_ENST00000371203.5_Missense_Mutation_p.S3R			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	141					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATGGAAAGTGAAGAGTTGG	0.448																																						dbGAP											0													140.0	143.0	142.0					10																	97604242		2203	4300	6503	-	-	-	SO:0001583	missense	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.423T>G	10.37:g.97604242T>G	ENSP00000360248:p.Ser141Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S153R	ENST00000371205.4	37	c.459	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274068	0.40194	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	6.07	-0.444	0.12245	.	0.482748	0.26183	N	0.025841	T	0.12135	0.0295	L	0.45581	1.43	0.09310	N	1	P;P;B;P;B	0.48998	0.918;0.9;0.323;0.918;0.12	P;B;B;P;B	0.45681	0.49;0.358;0.071;0.49;0.11	T	0.13098	-1.0522	10	0.52906	T	0.07	-6.6953	4.9962	0.14240	0.1441:0.3852:0.0:0.4707	.	153;153;148;141;148	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	R	148;148;153;33;3;3;141	ENSP00000390955:S148R;ENSP00000360250:S153R;ENSP00000442968:S33R;ENSP00000440027:S3R;ENSP00000360246:S3R;ENSP00000360248:S141R	ENSP00000360246:S3R	S	+	3	2	ENTPD1	97594232	0.074000	0.21230	0.000000	0.03702	0.016000	0.09150	0.341000	0.19909	-0.045000	0.13468	0.533000	0.62120	AGT	ENTPD1	-	pfam_GDA1_CD39_NTPase	ENSG00000138185		0.448	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	227	0.43	1	T	NM_001776		97604242	97604242	+1	no_errors	ENST00000371207	ensembl	human	known	69_37n	missense	178	11.00	22	SNP	0.000	G
ENTPD1	953	genome.wustl.edu	37	10	97604262	97604262	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:97604262T>G	ENST00000371205.4	+	5	726	c.443T>G	c.(442-444)gTt>gGt	p.V148G	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.V155G|ENTPD1_ENST00000371207.3_Missense_Mutation_p.V160G|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_Missense_Mutation_p.V10G|ENTPD1_ENST00000543964.1_Missense_Mutation_p.V40G|ENTPD1_ENST00000371203.5_Missense_Mutation_p.V10G			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	148					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GCAGACAGGGTTCTGGATGTG	0.448																																						dbGAP											0													156.0	155.0	156.0					10																	97604262		2203	4300	6503	-	-	-	SO:0001583	missense	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.443T>G	10.37:g.97604262T>G	ENSP00000360248:p.Val148Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.V160G	ENST00000371205.4	37	c.479	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318404	0.81469	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	6.07	6.07	0.98685	.	0.301219	0.35936	N	0.002895	T	0.39733	0.1089	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998	D;D;D;D;D	0.75020	0.985;0.975;0.981;0.985;0.981	T	0.42982	-0.9419	10	0.87932	D	0	-14.0032	14.5927	0.68378	0.0:0.0:0.0:1.0	.	160;160;155;148;155	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	G	155;155;160;40;10;10;148	ENSP00000390955:V155G;ENSP00000360250:V160G;ENSP00000442968:V40G;ENSP00000440027:V10G;ENSP00000360246:V10G;ENSP00000360248:V148G	ENSP00000360246:V10G	V	+	2	0	ENTPD1	97594252	1.000000	0.71417	0.325000	0.25375	0.038000	0.13279	7.189000	0.77747	2.326000	0.78906	0.533000	0.62120	GTT	ENTPD1	-	pfam_GDA1_CD39_NTPase	ENSG00000138185		0.448	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	237	0.84	2	T	NM_001776		97604262	97604262	+1	no_errors	ENST00000371207	ensembl	human	known	69_37n	missense	187	14.86	33	SNP	0.998	G
ENTPD3	956	genome.wustl.edu	37	3	40468764	40468764	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:40468764T>G	ENST00000301825.3	+	11	1473	c.1355T>G	c.(1354-1356)gTg>gGg	p.V452G	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Splice_Site_p.V452G|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	452					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ACTCCACAGGTGGGGAATAGC	0.552																																						dbGAP											0													98.0	83.0	88.0					3																	40468764		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1354-1T>G	3.37:g.40468764T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.V452G	ENST00000301825.3	37	c.1355	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908630	0.72868	.	.	ENSG00000168032	ENST00000301825;ENST00000456402	T;T	0.15372	2.43;2.43	5.18	4.02	0.46733	.	0.055525	0.64402	D	0.000001	T	0.45115	0.1326	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49103	-0.8974	10	0.87932	D	0	-11.9709	9.5801	0.39481	0.0:0.0854:0.0:0.9146	.	452	O75355	ENTP3_HUMAN	G	452	ENSP00000301825:V452G;ENSP00000401565:V452G	ENSP00000301825:V452G	V	+	2	0	ENTPD3	40443768	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.713000	0.54882	1.060000	0.40578	0.533000	0.62120	GTG	ENTPD3	-	pfam_GDA1_CD39_NTPase	ENSG00000168032		0.552	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	HGNC	protein_coding	OTTHUMT00000254179.2	144	0.69	1	T	NM_001248	Missense_Mutation	40468764	40468764	+1	no_errors	ENST00000301825	ensembl	human	known	69_37n	missense	180	13.81	29	SNP	1.000	G
ENTPD5	957	genome.wustl.edu	37	14	74438595	74438595	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74438595A>C	ENST00000334696.6	-	14	1363	c.1044T>G	c.(1042-1044)ggT>ggG	p.G348G	ENTPD5_ENST00000557325.1_Silent_p.G348G	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	348					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTTTTAAAATACCCCCCTTTT	0.378																																						dbGAP											0													127.0	135.0	132.0					14																	74438595		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1044T>G	14.37:g.74438595A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C5|Q96RX0	Missense_Mutation	SNP	NULL	p.V23G	ENST00000334696.6	37	c.68	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	A	7.413	0.635056	0.14322	.	.	ENSG00000187097	ENST00000555829	.	.	.	4.9	-0.233	0.13078	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23691	-1.0181	4	.	.	.	-1.7198	1.1422	0.01768	0.4492:0.123:0.2588:0.1691	.	.	.	.	G	23	.	.	V	-	2	0	ENTPD5	73508348	0.160000	0.22878	0.995000	0.50966	0.738000	0.42128	-0.011000	0.12721	0.047000	0.15862	0.379000	0.24179	GTA	ENTPD5	-	NULL	ENSG00000187097		0.378	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	374	0.53	2	A	NM_001249		74438595	74438595	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000555829	ensembl	human	putative	69_37n	missense	279	13.27	43	SNP	0.799	C
ENTPD5	957	genome.wustl.edu	37	14	74439685	74439685	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74439685A>C	ENST00000334696.6	-	13	1248	c.929T>G	c.(928-930)gTg>gGg	p.V310G	ENTPD5_ENST00000557325.1_Missense_Mutation_p.V310G	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	310					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCCTCGTACCACCCTCAGCAC	0.547																																						dbGAP											0													207.0	204.0	205.0					14																	74439685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.929T>G	14.37:g.74439685A>C	ENSP00000335246:p.Val310Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.V310G	ENST00000334696.6	37	c.929	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512114	0.85389	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.12879	2.64;2.64	4.95	4.95	0.65309	.	0.123993	0.53938	D	0.000043	T	0.35480	0.0933	M	0.82323	2.585	0.80722	D	1	D;D	0.58970	0.984;0.981	P;P	0.60117	0.869;0.794	T	0.14811	-1.0459	10	0.27082	T	0.32	-10.4427	15.0776	0.72087	1.0:0.0:0.0:0.0	.	310;310	O75356;G3V4I0	ENTP5_HUMAN;.	G	310	ENSP00000451810:V310G;ENSP00000335246:V310G	ENSP00000335246:V310G	V	-	2	0	ENTPD5	73509438	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.443000	0.90320	2.215000	0.71742	0.460000	0.39030	GTG	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.547	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	365	0.81	3	A	NM_001249		74439685	74439685	-1	no_errors	ENST00000334696	ensembl	human	known	69_37n	missense	266	14.97	47	SNP	1.000	C
ENTPD5	957	genome.wustl.edu	37	14	74439721	74439721	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74439721A>C	ENST00000334696.6	-	13	1212	c.893T>G	c.(892-894)gTg>gGg	p.V298G	ENTPD5_ENST00000557325.1_Missense_Mutation_p.V298G	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	298					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTCAAAGCCCACCTCCCCTGC	0.577																																						dbGAP											0													167.0	165.0	166.0					14																	74439721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.893T>G	14.37:g.74439721A>C	ENSP00000335246:p.Val298Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.V298G	ENST00000334696.6	37	c.893	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	A	9.415	1.081586	0.20309	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.06933	3.24;3.24	5.42	0.412	0.16397	.	1.254110	0.04951	N	0.460299	T	0.03305	0.0096	N	0.03983	-0.305	0.26876	N	0.967644	B;B	0.23249	0.008;0.082	B;B	0.21360	0.022;0.034	T	0.40270	-0.9572	10	0.07644	T	0.81	-14.7206	5.3344	0.15949	0.3604:0.183:0.4566:0.0	.	298;298	O75356;G3V4I0	ENTP5_HUMAN;.	G	298	ENSP00000451810:V298G;ENSP00000335246:V298G	ENSP00000335246:V298G	V	-	2	0	ENTPD5	73509474	0.015000	0.18098	0.841000	0.33234	0.986000	0.74619	0.853000	0.27777	0.155000	0.19261	0.460000	0.39030	GTG	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.577	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	323	0.92	3	A	NM_001249		74439721	74439721	-1	no_errors	ENST00000334696	ensembl	human	known	69_37n	missense	228	17.09	47	SNP	0.426	C
EP300	2033	genome.wustl.edu	37	22	41564860	41564860	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:41564860A>C	ENST00000263253.7	+	25	5380	c.4161A>C	c.(4159-4161)ccA>ccC	p.P1387P	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1387	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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						ACTGCCCTCCACCCAACCAGA	0.463			"""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													167.0	148.0	155.0					22																	41564860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4161A>C	22.37:g.41564860A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Silent	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.P1387	ENST00000263253.7	37	c.4161	CCDS14010.1	22																																																																																			EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.463	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	164	0.00	0	A	NM_001429		41564860	41564860	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	silent	106	14.40	18	SNP	0.267	C
EP300	2033	genome.wustl.edu	37	22	41573463	41573463	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:41573463A>C	ENST00000263253.7	+	31	6967	c.5748A>C	c.(5746-5748)ccA>ccC	p.P1916P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1916					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						CTGCTCAGCCACCCCTTCCAG	0.612			"""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													51.0	50.0	50.0					22																	41573463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.5748A>C	22.37:g.41573463A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Silent	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.P1916	ENST00000263253.7	37	c.5748	CCDS14010.1	22																																																																																			EP300	-	NULL	ENSG00000100393		0.612	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	118	0.83	1	A	NM_001429		41573463	41573463	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	silent	113	19.29	27	SNP	0.984	C
EPB41L4B	54566	genome.wustl.edu	37	9	111966008	111966008	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:111966008A>C	ENST00000374566.3	-	19	2398	c.1881T>G	c.(1879-1881)ggT>ggG	p.G627G		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	627					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCCTTTCCACCCTGTTAAA	0.363																																						dbGAP											0													188.0	173.0	178.0					9																	111966008		1884	4100	5984	-	-	-	SO:0001819	synonymous_variant	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1881T>G	9.37:g.111966008A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.G627	ENST00000374566.3	37	c.1881	CCDS43859.1	9																																																																																			EPB41L4B	-	NULL	ENSG00000095203		0.363	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	235	0.00	0	A	NM_018424		111966008	111966008	-1	no_errors	ENST00000374566	ensembl	human	known	69_37n	silent	221	10.48	26	SNP	0.999	C
EPHA1	2041	genome.wustl.edu	37	7	143092493	143092493	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:143092493A>C	ENST00000275815.3	-	12	2088	c.2002T>G	c.(2002-2004)Tgg>Ggg	p.W668G		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGAAGTTCCACCACTGGCCA	0.552											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													186.0	186.0	186.0					7																	143092493		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2002T>G	7.37:g.143092493A>C	ENSP00000275815:p.Trp668Gly	Somatic	1676	WXS	Illumina GAIIx	Phase_IV	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.W668G	ENST00000275815.3	37	c.2002	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315050	0.60524	.	.	ENSG00000146904	ENST00000275815	D	0.82081	-1.57	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	T	0.73877	0.3643	N	0.03194	-0.395	0.45515	D	0.998477	P	0.52692	0.955	P	0.54759	0.76	T	0.77744	-0.2473	10	0.51188	T	0.08	.	10.1561	0.42823	0.8512:0.0:0.0:0.1488	.	668	P21709	EPHA1_HUMAN	G	668	ENSP00000275815:W668G	ENSP00000275815:W668G	W	-	1	0	EPHA1	142802615	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.814000	0.62627	2.157000	0.67596	0.533000	0.62120	TGG	EPHA1	-	pirsf_Tyr_kinase_ephrin_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	ENSG00000146904		0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	241	0.41	1	A			143092493	143092493	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	missense	142	17.71	31	SNP	1.000	C
EPHA3	2042	genome.wustl.edu	37	3	89390198	89390198	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:89390198A>C	ENST00000336596.2	+	4	1172	c.947A>C	c.(946-948)gAc>gCc	p.D316A	EPHA3_ENST00000452448.2_Missense_Mutation_p.D316A|EPHA3_ENST00000494014.1_Missense_Mutation_p.D316A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	316	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCAGACAAAGACCCTCCATCC	0.443										TSP Lung(6;0.00050)																												dbGAP											0													154.0	154.0	154.0					3																	89390198		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.947A>C	3.37:g.89390198A>C	ENSP00000337451:p.Asp316Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D316A	ENST00000336596.2	37	c.947	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302038	0.81136	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.97256	-4.31;-4.31;-4.31	6.17	6.17	0.99709	.	0.043625	0.85682	D	0.000000	D	0.98899	0.9627	H	0.94886	3.595	0.80722	D	1	P;D	0.89917	0.799;1.0	B;D	0.74674	0.255;0.984	D	0.99568	1.0970	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	316;316	P29320;P29320-2	EPHA3_HUMAN;.	A	316	ENSP00000337451:D316A;ENSP00000399926:D316A;ENSP00000419190:D316A	.	D	+	2	0	EPHA3	89472888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt	ENSG00000044524		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	289	0.68	2	A	NM_005233		89390198	89390198	+1	no_errors	ENST00000336596	ensembl	human	known	69_37n	missense	201	19.60	49	SNP	1.000	C
EPHA4	2043	genome.wustl.edu	37	2	222294870	222294870	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:222294870A>C	ENST00000281821.2	-	15	2539	c.2498T>G	c.(2497-2499)gTg>gGg	p.V833G	EPHA4_ENST00000409854.1_Splice_Site_p.V833G|EPHA4_ENST00000409938.1_Splice_Site_p.V833G|EPHA4_ENST00000392071.4_Splice_Site_p.V782G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGCTTTAATCACCTATGGAAG	0.532																																						dbGAP											0													91.0	83.0	86.0					2																	222294870		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2497-1T>G	2.37:g.222294870A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V833G	ENST00000281821.2	37	c.2498	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718990	0.89205	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94035	0.7304	10	0.87932	D	0	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	833	P54764	EPHA4_HUMAN	G	833;833;833;782	ENSP00000281821:V833G;ENSP00000386276:V833G;ENSP00000386829:V833G;ENSP00000375923:V782G	ENSP00000281821:V833G	V	-	2	0	EPHA4	222003114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.235000	0.73313	0.533000	0.62120	GTG	EPHA4	-	pirsf_Tyr_kinase_ephrin_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	ENSG00000116106		0.532	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	104	0.94	1	A		Missense_Mutation	222294870	222294870	-1	no_errors	ENST00000281821	ensembl	human	known	69_37n	missense	77	21.21	21	SNP	1.000	C
EPHA5	2044	genome.wustl.edu	37	4	66356345	66356345	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:66356345A>C	ENST00000273854.3	-	5	1752	c.1152T>G	c.(1150-1152)ggT>ggG	p.G384G	EPHA5_ENST00000354839.4_Silent_p.G384G|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.G384G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	384	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTTCCTTCCACCAGTGTCAG	0.498										TSP Lung(17;0.13)																												dbGAP											0													97.0	76.0	83.0					4																	66356345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1152T>G	4.37:g.66356345A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G384	ENST00000273854.3	37	c.1152	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3	ENSG00000145242		0.498	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	78	0.00	0	A	NM_004439		66356345	66356345	-1	no_errors	ENST00000273854	ensembl	human	known	69_37n	silent	75	16.67	15	SNP	1.000	C
EPHA6	285220	genome.wustl.edu	37	3	96945244	96945244	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:96945244A>C	ENST00000389672.5	+	4	1289	c.1251A>C	c.(1249-1251)ccA>ccC	p.P417P	EPHA6_ENST00000470610.2_Silent_p.P417P	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	323	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAAAAGACCCACCTTCTATGG	0.348																																						dbGAP											0													159.0	152.0	154.0					3																	96945244		1835	4082	5917	-	-	-	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1251A>C	3.37:g.96945244A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P417	ENST00000389672.5	37	c.1251	CCDS46876.1	3																																																																																			EPHA6	-	superfamily_Growth_fac_rcpt	ENSG00000080224		0.348	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3	279	0.36	1	A	NM_001080448		96945244	96945244	+1	no_errors	ENST00000389672	ensembl	human	known	69_37n	silent	270	11.76	36	SNP	0.999	C
EPHB1	2047	genome.wustl.edu	37	3	134670535	134670535	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:134670535T>G	ENST00000398015.3	+	3	816	c.446T>G	c.(445-447)gTg>gGg	p.V149G	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	149	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCTCCCAGGTGGACTTTGGG	0.512																																						dbGAP											0													165.0	162.0	163.0					3																	134670535		1964	4194	6158	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.446T>G	3.37:g.134670535T>G	ENSP00000381097:p.Val149Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V149G	ENST00000398015.3	37	c.446	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217225	0.39201	.	.	ENSG00000154928	ENST00000398015;ENST00000474732	T;T	0.03689	3.84;3.84	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.87578	0.901;0.998	T	0.05699	-1.0869	9	.	.	.	.	15.6027	0.76636	0.0:0.0:0.0:1.0	.	149;149	B5A969;P54762	.;EPHB1_HUMAN	G	149;127	ENSP00000381097:V149G;ENSP00000418352:V127G	.	V	+	2	0	EPHB1	136153225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	GTG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.512	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	381	0.00	0	T	NM_004441		134670535	134670535	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	299	11.37	39	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134670610	134670610	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:134670610A>C	ENST00000398015.3	+	3	891	c.521A>C	c.(520-522)tAc>tCc	p.Y174S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	174	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AATGGTTTTTACCTCGCTTTT	0.468																																						dbGAP											0													253.0	244.0	247.0					3																	134670610		1927	4147	6074	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.521A>C	3.37:g.134670610A>C	ENSP00000381097:p.Tyr174Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.Y174S	ENST00000398015.3	37	c.521	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222189	0.79464	.	.	ENSG00000154928	ENST00000398015	T	0.17213	2.29	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.063069	0.64402	D	0.000003	T	0.41373	0.1156	M	0.90369	3.11	0.80722	D	1	P	0.47484	0.896	P	0.51550	0.673	T	0.50866	-0.8777	9	.	.	.	.	15.6027	0.76636	1.0:0.0:0.0:0.0	.	174	P54762	EPHB1_HUMAN	S	174	ENSP00000381097:Y174S	.	Y	+	2	0	EPHB1	136153300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.085000	0.62840	0.533000	0.62120	TAC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.468	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	417	0.48	2	A	NM_004441		134670610	134670610	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	315	10.17	36	SNP	1.000	C
EPHB1	2047	genome.wustl.edu	37	3	134873002	134873002	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:134873002A>C	ENST00000398015.3	+	6	1676	c.1306A>C	c.(1306-1308)Acc>Ccc	p.T436P	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	436	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCCCCCTCCACCGTTCCCAT	0.527																																						dbGAP											0													199.0	212.0	207.0					3																	134873002		2143	4278	6421	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1306A>C	3.37:g.134873002A>C	ENSP00000381097:p.Thr436Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.T436P	ENST00000398015.3	37	c.1306	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	A	6.091	0.385062	0.11524	.	.	ENSG00000154928	ENST00000398015	T	0.46451	0.87	5.0	5.0	0.66597	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.326283	0.31963	N	0.006799	T	0.20129	0.0484	N	0.11064	0.09	0.80722	D	1	B	0.29378	0.243	B	0.29716	0.106	T	0.10268	-1.0637	10	0.05721	T	0.95	.	9.8771	0.41211	0.8475:0.0:0.0:0.1525	.	436	P54762	EPHB1_HUMAN	P	436	ENSP00000381097:T436P	ENSP00000381097:T436P	T	+	1	0	EPHB1	136355692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.790000	0.47821	2.109000	0.64355	0.533000	0.62120	ACC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	311	0.95	3	A	NM_004441		134873002	134873002	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	311	14.95	55	SNP	1.000	C
EPHB1	2047	genome.wustl.edu	37	3	134885850	134885850	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:134885850T>G	ENST00000398015.3	+	9	2129		c.e9+2		EPHB1_ENST00000493838.1_Splice_Site	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGGCCGAGGTAAGTAGAAAG	0.542																																						dbGAP											0													151.0	158.0	156.0					3																	134885850		1907	4125	6032	-	-	-	SO:0001630	splice_region_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1759+2T>G	3.37:g.134885850T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Splice_Site	SNP	-	e9+2	ENST00000398015.3	37	c.1759+2	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	T	31	5.076054	0.94000	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB1	136368540	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.475000	0.81041	2.333000	0.79357	0.533000	0.62120	.	EPHB1	-	-	ENSG00000154928		0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	330	0.90	3	T	NM_004441	Intron	134885850	134885850	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	splice_site	201	17.81	44	SNP	1.000	G
EPN3	55040	genome.wustl.edu	37	17	48619018	48619018	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:48619018A>C	ENST00000268933.3	+	9	2127	c.1548A>C	c.(1546-1548)gcA>gcC	p.A516A	EPN3_ENST00000537145.1_Silent_p.A544A|EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	516						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGGTCAAGGCACCCCAGGTTG	0.602																																						dbGAP											0													43.0	48.0	46.0					17																	48619018		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1548A>C	17.37:g.48619018A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.A544	ENST00000268933.3	37	c.1632	CCDS11570.1	17																																																																																			EPN3	-	NULL	ENSG00000049283		0.602	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1	58	0.00	0	A	NM_017957		48619018	48619018	+1	no_errors	ENST00000537145	ensembl	human	known	69_37n	silent	58	15.71	11	SNP	0.013	C
EPS8	2059	genome.wustl.edu	37	12	15784425	15784425	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:15784425A>C	ENST00000281172.5	-	18	2431	c.1995T>G	c.(1993-1995)ggT>ggG	p.G665G	EPS8_ENST00000542903.1_Silent_p.G405G|EPS8_ENST00000543612.1_Silent_p.G665G|EPS8_ENST00000543523.1_Silent_p.G665G|EPS8_ENST00000540613.1_Silent_p.G405G	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	665	Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CGATACTGCCACCACTGTCAC	0.502																																						dbGAP											0													192.0	171.0	178.0					12																	15784425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1995T>G	12.37:g.15784425A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.G665	ENST00000281172.5	37	c.1995	CCDS31753.1	12																																																																																			EPS8	-	NULL	ENSG00000151491		0.502	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	221	0.45	1	A			15784425	15784425	-1	no_errors	ENST00000281172	ensembl	human	known	69_37n	silent	259	11.86	35	SNP	0.196	C
EPS8L3	79574	genome.wustl.edu	37	1	110294721	110294721	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:110294721A>G	ENST00000361965.4	-	15	1436	c.1330T>C	c.(1330-1332)Tcc>Ccc	p.S444P	EPS8L3_ENST00000361852.4_Missense_Mutation_p.S414P|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S445P	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	444						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTGGGGCTGGAGGGCCTGGAG	0.567																																						dbGAP											0													124.0	138.0	133.0					1																	110294721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1330T>C	1.37:g.110294721A>G	ENSP00000355255:p.Ser444Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.S445P	ENST00000361965.4	37	c.1333	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	A	8.113	0.779175	0.16120	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.27104	1.69;1.69;1.69	4.86	-0.47	0.12131	Src homology-3 domain (1);	1.750030	0.02886	N	0.133500	T	0.06142	0.0159	L	0.46157	1.445	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.21655	-1.0239	10	0.21540	T	0.41	-1.3024	0.2972	0.00267	0.3318:0.2054:0.2632:0.1997	.	414;444;445	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	P	414;445;444	ENSP00000354551:S414P;ENSP00000358820:S445P;ENSP00000355255:S444P	ENSP00000354551:S414P	S	-	1	0	EPS8L3	110096244	0.021000	0.18746	0.010000	0.14722	0.014000	0.08584	-0.008000	0.12788	-0.055000	0.13244	-0.301000	0.09380	TCC	EPS8L3	-	superfamily_SH3_domain	ENSG00000198758		0.567	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	113	0.00	0	A	NM_024526		110294721	110294721	-1	no_errors	ENST00000369805	ensembl	human	known	69_37n	missense	68	13.92	11	SNP	0.003	G
ERAP1	51752	genome.wustl.edu	37	5	96124326	96124326	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:96124326A>C	ENST00000443439.2	-	11	1653	c.1587T>G	c.(1585-1587)ggT>ggG	p.G529G	ERAP1_ENST00000514604.1_5'Flank|ERAP1_ENST00000296754.3_Silent_p.G529G|CTD-2260A17.1_ENST00000602972.1_RNA|CTD-2260A17.1_ENST00000512856.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	529					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTAGGGGAAAACCCTTCTGCA	0.502																																						dbGAP											0													171.0	131.0	145.0					5																	96124326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1587T>G	5.37:g.96124326A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G529	ENST00000443439.2	37	c.1587	CCDS47250.1	5																																																																																			ERAP1	-	NULL	ENSG00000164307		0.502	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	111	0.89	1	A	NM_016442		96124326	96124326	-1	no_errors	ENST00000296754	ensembl	human	known	69_37n	silent	128	12.33	18	SNP	0.992	C
ERBB2	2064	genome.wustl.edu	37	17	37880220	37880220	+	Missense_Mutation	SNP	T	T	C	rs121913470|rs121913469		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:37880220T>C	ENST00000269571.5	+	19	2423	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740S|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725S|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725S|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755S|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	38	0.00	0	T			37880220	37880220	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	C
ERBB4	2066	genome.wustl.edu	37	2	212248370	212248370	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:212248370T>G	ENST00000342788.4	-	28	4207	c.3897A>C	c.(3895-3897)ccA>ccC	p.P1299P	ERBB4_ENST00000436443.1_Silent_p.P1283P|ERBB4_ENST00000402597.1_Silent_p.P1289P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1299					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTCTGTAAGGTGGAGGCGGCA	0.512										TSP Lung(8;0.080)																												dbGAP											0													65.0	68.0	67.0					2																	212248370		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3897A>C	2.37:g.212248370T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	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.P1299	ENST00000342788.4	37	c.3897	CCDS2394.1	2																																																																																			ERBB4	-	NULL	ENSG00000178568		0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	105	0.00	0	T	NM_001042599		212248370	212248370	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	silent	64	15.79	12	SNP	0.188	G
ERC1	23085	genome.wustl.edu	37	12	1137101	1137101	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:1137101T>G	ENST00000397203.2	+	2	438	c.32T>G	c.(31-33)gTg>gGg	p.V11G	ERC1_ENST00000589028.1_Missense_Mutation_p.V11G|ERC1_ENST00000360905.4_Missense_Mutation_p.V11G|ERC1_ENST00000546231.2_Missense_Mutation_p.V11G|ERC1_ENST00000543086.3_Missense_Mutation_p.V11G|ERC1_ENST00000355446.5_Missense_Mutation_p.V11G			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	11					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTTGGGAAGGTGGAGCCGAGC	0.557																																						dbGAP											0													104.0	103.0	103.0					12																	1137101		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.32T>G	12.37:g.1137101T>G	ENSP00000380386:p.Val11Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.V11G	ENST00000397203.2	37	c.32	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819740	0.32145	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.61	5.61	0.85477	.	0.189953	0.47093	D	0.000241	T	0.75620	0.3874	N	0.08118	0	0.49213	D	0.999765	B;B;B	0.18741	0.0;0.001;0.03	B;B;B	0.21151	0.001;0.003;0.033	T	0.73084	-0.4094	10	0.66056	D	0.02	-14.5176	11.7248	0.51704	0.0:0.071:0.0:0.929	.	11;11;11	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	G	11	ENSP00000340054:V11G;ENSP00000380386:V11G;ENSP00000438546:V11G;ENSP00000445336:V11G;ENSP00000442976:V11G;ENSP00000442739:V11G;ENSP00000347621:V11G;ENSP00000354158:V11G;ENSP00000410064:V11G	ENSP00000299183:V11G	V	+	2	0	ERC1	1007362	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.365000	0.34182	2.136000	0.66102	0.533000	0.62120	GTG	ERC1	-	NULL	ENSG00000082805		0.557	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	155	0.00	0	T	NM_015064		1137101	1137101	+1	no_errors	ENST00000360905	ensembl	human	known	69_37n	missense	167	15.23	30	SNP	1.000	G
ERC2	26059	genome.wustl.edu	37	3	56468827	56468827	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:56468827A>C	ENST00000288221.6	-	2	464	c.209T>G	c.(208-210)gTg>gGg	p.V70G		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	70						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTTGAAGCCACCCCTTCATG	0.517																																						dbGAP											0													174.0	168.0	170.0					3																	56468827		2023	4182	6205	-	-	-	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.209T>G	3.37:g.56468827A>C	ENSP00000288221:p.Val70Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.V70G	ENST00000288221.6	37	c.209	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817344	0.70912	.	.	ENSG00000187672	ENST00000288221	T	0.40225	1.04	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.34521	1.04	0.80722	D	1	D	0.54601	0.967	D	0.64595	0.927	T	0.56529	-0.7964	10	0.87932	D	0	-28.5459	16.0843	0.81031	1.0:0.0:0.0:0.0	.	70	O15083	ERC2_HUMAN	G	70	ENSP00000288221:V70G	ENSP00000288221:V70G	V	-	2	0	ERC2	56443867	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.962000	0.93254	2.191000	0.70037	0.533000	0.62120	GTG	ERC2	-	NULL	ENSG00000187672		0.517	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	327	0.30	1	A	NM_015576		56468827	56468827	-1	no_errors	ENST00000288221	ensembl	human	known	69_37n	missense	349	10.28	40	SNP	1.000	C
ERCC2	2068	genome.wustl.edu	37	19	45858035	45858035	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:45858035T>G	ENST00000391945.4	-	17	1695	c.1618A>C	c.(1618-1620)Acc>Ccc	p.T540P	ERCC2_ENST00000391944.3_Missense_Mutation_p.T462P	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	540	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGTAGCTGGTGAAGAAGGCC	0.622			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	0													169.0	135.0	147.0					19																	45858035		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1618A>C	19.37:g.45858035T>G	ENSP00000375809:p.Thr540Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.T540P	ENST00000391945.4	37	c.1618	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	T	9.335	1.061420	0.19987	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.90844	-2.74;-2.74	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	N	0.01122	-1.005	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.21360	0.005;0.004;0.034	T	0.71144	-0.4678	10	0.05721	T	0.95	-53.0199	13.2809	0.60214	0.0:0.0:0.0:1.0	.	462;540;233	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	P	490;516;540;462	ENSP00000375809:T540P;ENSP00000375808:T462P	ENSP00000375805:T490P	T	-	1	0	ERCC2	50549875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.303000	0.78871	2.028000	0.59812	0.459000	0.35465	ACC	ERCC2	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000104884		0.622	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	126	0.79	1	T	NM_000400		45858035	45858035	-1	no_errors	ENST00000391945	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	G
ERCC3	2071	genome.wustl.edu	37	2	128038189	128038189	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:128038189A>C	ENST00000285398.2	-	9	1455	c.1361T>G	c.(1360-1362)gTg>gGg	p.V454G	ERCC3_ENST00000493187.2_Missense_Mutation_p.V390G	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	454	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GATGGTGAGCACCCTTCGGAA	0.403			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	0													64.0	59.0	61.0					2																	128038189		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1361T>G	2.37:g.128038189A>C	ENSP00000285398:p.Val454Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QM0	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	p.V454G	ENST00000285398.2	37	c.1361	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	a	24.3	4.517430	0.85495	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.42513	0.97;0.97	5.72	5.72	0.89469	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.059674	0.64402	D	0.000002	T	0.74627	0.3741	H	0.96777	3.88	0.80722	D	1	D	0.54207	0.965	P	0.61397	0.888	D	0.83996	0.0340	10	0.87932	D	0	-23.9459	16.0197	0.80472	1.0:0.0:0.0:0.0	.	454	P19447	ERCC3_HUMAN	G	454;390	ENSP00000285398:V454G;ENSP00000444796:V390G	ENSP00000285398:V454G	V	-	2	0	ERCC3	127754659	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.328000	0.96403	2.177000	0.69029	0.524000	0.50904	GTG	ERCC3	-	pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair	ENSG00000163161		0.403	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	81	0.00	0	A	NM_000122		128038189	128038189	-1	no_errors	ENST00000285398	ensembl	human	known	69_37n	missense	75	33.04	37	SNP	1.000	C
ERCC4	2072	genome.wustl.edu	37	16	14028087	14028087	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:14028087T>G	ENST00000311895.7	+	7	1150	c.1141T>G	c.(1141-1143)Tgg>Ggg	p.W381G	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	381	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAACCCAAAGTGGGAGGCACT	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													114.0	126.0	121.0					16																	14028087		2197	4300	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1141T>G	16.37:g.14028087T>G	ENSP00000310520:p.Trp381Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.W381G	ENST00000311895.7	37	c.1141	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246887	0.80024	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.37235	1.21	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80466	-0.1370	10	0.62326	D	0.03	-18.4463	15.5295	0.75942	0.0:0.0:0.0:1.0	.	381	Q92889	XPF_HUMAN	G	381;370	ENSP00000310520:W381G	ENSP00000310520:W381G	W	+	1	0	ERCC4	13935588	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.698000	0.84413	2.254000	0.74563	0.533000	0.62120	TGG	ERCC4	-	tigrfam_Rad1	ENSG00000175595		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	185	0.00	0	T	NM_005236		14028087	14028087	+1	no_errors	ENST00000311895	ensembl	human	known	69_37n	missense	198	10.31	23	SNP	1.000	G
ERCC6	2074	genome.wustl.edu	37	10	50667150	50667150	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:50667150T>G	ENST00000355832.5	-	21	4271	c.4193A>C	c.(4192-4194)cAc>cCc	p.H1398P	ERCC6_ENST00000542458.1_Missense_Mutation_p.H768P|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1398					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGAATCAGGTGGTTTCTAGC	0.527								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													97.0	103.0	101.0					10																	50667150		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4193A>C	10.37:g.50667150T>G	ENSP00000348089:p.His1398Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1398P	ENST00000355832.5	37	c.4193	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198132	0.79015	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83506	-1.73;-1.46	5.73	4.57	0.56435	.	.	.	.	.	D	0.88808	0.6537	M	0.76574	2.34	0.50171	D	0.99985	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	D	0.86888	0.2046	9	0.30078	T	0.28	-26.4079	12.3648	0.55222	0.1264:0.0:0.0:0.8736	.	1398;775	Q03468;Q59FF6	ERCC6_HUMAN;.	P	1398;775;768	ENSP00000348089:H1398P;ENSP00000445134:H768P	ENSP00000348089:H1398P	H	-	2	0	ERCC6	50337156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	1.059000	0.40554	0.533000	0.62120	CAC	ERCC6	-	NULL	ENSG00000225830		0.527	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	219	0.00	0	T	NM_000124		50667150	50667150	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	191	11.11	24	SNP	1.000	G
ERCC6L	54821	genome.wustl.edu	37	X	71425225	71425225	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:71425225A>C	ENST00000334463.3	-	2	3527	c.3392T>G	c.(3391-3393)gTg>gGg	p.V1131G	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.V1008G	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1131					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GCTTTCCTCCACCCCTTCTTC	0.463																																						dbGAP											0													105.0	95.0	98.0					X																	71425225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3392T>G	X.37:g.71425225A>C	ENSP00000334675:p.Val1131Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1131G	ENST00000334463.3	37	c.3392	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	A	11.62	1.694341	0.30052	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90955	-2.73;-2.76	5.43	3.6	0.41247	.	.	.	.	.	T	0.79862	0.4519	N	0.08118	0	0.21290	N	0.999734	B	0.06786	0.001	B	0.06405	0.002	T	0.69778	-0.5053	9	0.54805	T	0.06	0.0961	8.0083	0.30338	0.0879:0.0:0.7561:0.1561	.	1131	Q2NKX8	ERC6L_HUMAN	G	1008;1131	ENSP00000362761:V1008G;ENSP00000334675:V1131G	ENSP00000334675:V1131G	V	-	2	0	ERCC6L	71341950	0.431000	0.25546	0.101000	0.21167	0.035000	0.12851	1.169000	0.31871	1.061000	0.40601	-0.202000	0.12741	GTG	ERCC6L	-	NULL	ENSG00000186871		0.463	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	260	0.00	0	A	NM_017669		71425225	71425225	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	173	12.12	24	SNP	0.272	C
ERCC6L	54821	genome.wustl.edu	37	X	71426165	71426165	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:71426165A>C	ENST00000334463.3	-	2	2587	c.2452T>G	c.(2452-2454)Ttt>Gtt	p.F818V	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.F695V	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	818					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACACTTCCAAACCCCTTTGGT	0.383																																						dbGAP											0													96.0	88.0	91.0					X																	71426165		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2452T>G	X.37:g.71426165A>C	ENSP00000334675:p.Phe818Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F818V	ENST00000334463.3	37	c.2452	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	A	6.380	0.438175	0.12104	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90261	-2.61;-2.64	4.69	-1.8	0.07907	.	.	.	.	.	T	0.76608	0.4011	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.60414	-0.7268	9	0.12766	T	0.61	1.3995	9.2985	0.37831	0.2733:0.6383:0.0884:0.0	.	818	Q2NKX8	ERC6L_HUMAN	V	695;818	ENSP00000362761:F695V;ENSP00000334675:F818V	ENSP00000334675:F818V	F	-	1	0	ERCC6L	71342890	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.386000	0.07370	-0.499000	0.06623	-0.387000	0.06579	TTT	ERCC6L	-	NULL	ENSG00000186871		0.383	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	256	0.39	1	A	NM_017669		71426165	71426165	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	165	12.23	23	SNP	0.000	C
ERCC6L2	375748	genome.wustl.edu	37	9	98774878	98774878	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:98774878T>G	ENST00000407474.3	+	4	1502	c.989T>G	c.(988-990)gTg>gGg	p.V330G				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1360	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AGAGAAGAGGTGTTTTTTAAT	0.338																																						dbGAP											0													50.0	57.0	55.0					9																	98774878		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.989T>G	9.37:g.98774878T>G	ENSP00000384365:p.Val330Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	NULL	p.V330G	ENST00000407474.3	37	c.989		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.109|3.109	-0.183145|-0.183145	0.06340|0.06340	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000320486|ENST00000407474	.|.	.|.	.|.	5.06|5.06	-1.72|-1.72	0.08107|0.08107	.|.	.|2.190520	.|0.02024	.|N	.|0.048053	T|T	0.26919|0.26919	0.0659|0.0659	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.12785|0.12785	-1.0534|-1.0534	4|7	.|.	.|.	.|.	.|.	7.8181|7.8181	0.29271|0.29271	0.0:0.4986:0.1347:0.3667|0.0:0.4986:0.1347:0.3667	.|.	.|330	.|A4D997	.|CI102_HUMAN	G|G	321|330	.|.	.|.	C|V	+|+	1|2	0|0	C9orf102|C9orf102	97814699|97814699	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.364000|-1.364000	0.02590|0.02590	-0.456000|-0.456000	0.07043|0.07043	-0.256000|-0.256000	0.11100|0.11100	TGT|GTG	ERCC6L2	-	NULL	ENSG00000182150		0.338	ERCC6L2-201	KNOWN	basic	protein_coding	ERCC6L2	HGNC	protein_coding		133	0.00	0	T	NM_001010895		98774878	98774878	+1	no_errors	ENST00000407474	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	0.000	G
ERGIC1	57222	genome.wustl.edu	37	5	172315722	172315722	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:172315722T>G	ENST00000393784.3	+	2	180	c.41T>G	c.(40-42)gTg>gGg	p.V14G	ERGIC1_ENST00000523291.1_Missense_Mutation_p.V14G|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	14					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACAGGAAGGTGCCCAAGGAC	0.587																																						dbGAP											0													202.0	153.0	170.0					5																	172315722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.41T>G	5.37:g.172315722T>G	ENSP00000377374:p.Val14Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	pfam_DUF1692	p.V14G	ENST00000393784.3	37	c.41	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907270	0.72868	.	.	ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.81289	-0.1000	9	0.87932	D	0	-20.9374	10.843	0.46726	0.0:0.0:0.0:1.0	.	14	Q969X5	ERGI1_HUMAN	G	14	.	ENSP00000377374:V14G	V	+	2	0	ERGIC1	172248328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.552000	0.67281	1.879000	0.54435	0.533000	0.62120	GTG	ERGIC1	-	NULL	ENSG00000113719		0.587	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	40	0.00	0	T	NM_020462		172315722	172315722	+1	no_errors	ENST00000393784	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	G
ERMN	57471	genome.wustl.edu	37	2	158177978	158177978	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:158177978A>C	ENST00000410096.1	-	3	951	c.660T>G	c.(658-660)ggT>ggG	p.G220G	ERMN_ENST00000535935.1_Silent_p.G114G|ERMN_ENST00000397283.2_Silent_p.G233G|ERMN_ENST00000420719.2_Silent_p.G200G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	220					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CACTTGCATCACCTTCCTCTT	0.408																																						dbGAP											0													156.0	158.0	157.0					2																	158177978		1961	4153	6114	-	-	-	SO:0001819	synonymous_variant	0			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.660T>G	2.37:g.158177978A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKA6|Q9ULN1	Silent	SNP	superfamily_Moesin	p.G233	ENST00000410096.1	37	c.699	CCDS46431.1	2																																																																																			ERMN	-	NULL	ENSG00000136541		0.408	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	HGNC	protein_coding	OTTHUMT00000332659.1	401	0.00	0	A	NM_001009959		158177978	158177978	-1	no_errors	ENST00000397283	ensembl	human	known	69_37n	silent	242	15.09	43	SNP	0.000	C
ERMP1	79956	genome.wustl.edu	37	9	5805087	5805087	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:5805087T>G	ENST00000339450.5	-	10	1943	c.1854A>C	c.(1852-1854)ccA>ccC	p.P618P	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Silent_p.P196P|ERMP1_ENST00000381506.3_Intron	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	618						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAACATCAGGTGGGATTTCAG	0.378																																						dbGAP											0													89.0	82.0	84.0					9																	5805087		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1854A>C	9.37:g.5805087T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.P618	ENST00000339450.5	37	c.1854	CCDS34983.1	9																																																																																			ERMP1	-	NULL	ENSG00000099219		0.378	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1	269	0.37	1	T	NM_024896		5805087	5805087	-1	no_errors	ENST00000339450	ensembl	human	known	69_37n	silent	246	17.39	52	SNP	0.980	G
PLK1	5347	genome.wustl.edu	37	16	23703405	23703405	+	IGR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:23703405A>C	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.V700G|ERN2_ENST00000256797.4_Missense_Mutation_p.V800G	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCGGGCAACCACCTTGTCTGG	0.662																																					Colon(12;240 564 27038 33155)	dbGAP											0													105.0	116.0	112.0					16																	23703405		2197	4300	6497	-	-	-	SO:0001628	intergenic_variant	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703405A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15153|Q99746	Missense_Mutation	SNP	pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.V800G	ENST00000300093.4	37	c.2399	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580104	0.46006	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.64991	-0.13;-0.13	5.42	4.34	0.51931	.	0.213346	0.40385	N	0.001117	T	0.64724	0.2624	N	0.26092	0.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.61559	-0.7038	10	0.34782	T	0.22	.	9.3608	0.38195	0.915:0.0:0.085:0.0	.	700;752	E7ETG2;A5YM65	.;.	G	800;700	ENSP00000256797:V800G;ENSP00000413812:V700G	ENSP00000256797:V800G	V	-	2	0	ERN2	23610906	1.000000	0.71417	0.629000	0.29254	0.039000	0.13416	5.921000	0.70028	0.902000	0.36520	0.459000	0.35465	GTG	ERN2	-	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	ENSG00000134398		0.662	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000214057.2	117	0.00	0	A	NM_005030		23703405	23703405	-1	no_errors	ENST00000256797	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	0.990	C
ERN2	10595	genome.wustl.edu	37	16	23713541	23713541	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:23713541T>G	ENST00000457008.2	-	11	1173	c.1135A>C	c.(1135-1137)Acc>Ccc	p.T379P	ERN2_ENST00000256797.4_Missense_Mutation_p.T427P					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTCCCCAGGGTGGGATGGACC	0.597																																						dbGAP											0													93.0	98.0	96.0					16																	23713541		2197	4300	6497	-	-	-	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1135A>C	16.37:g.23713541T>G	ENSP00000413812:p.Thr379Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.T427P	ENST00000457008.2	37	c.1279		16	.	.	.	.	.	.	.	.	.	.	T	9.597	1.127669	0.20959	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.60672	0.17;0.24	5.9	4.78	0.61160	.	0.900600	0.09829	N	0.750483	T	0.52484	0.1737	L	0.47716	1.5	0.09310	N	1	B;P;P	0.51351	0.04;0.761;0.944	B;B;B	0.41860	0.015;0.276;0.368	T	0.33085	-0.9882	10	0.34782	T	0.22	.	11.3831	0.49770	0.0:0.0:0.1518:0.8482	.	379;379;379	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	P	427;379	ENSP00000256797:T427P;ENSP00000413812:T379P	ENSP00000256797:T427P	T	-	1	0	ERN2	23621042	0.978000	0.34361	0.034000	0.17996	0.530000	0.34684	0.329000	0.19698	1.017000	0.39495	0.374000	0.22700	ACC	ERN2	-	NULL	ENSG00000134398		0.597	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	84	0.00	0	T			23713541	23713541	-1	no_errors	ENST00000256797	ensembl	human	known	69_37n	missense	76	26.67	28	SNP	0.023	G
ESPL1	9700	genome.wustl.edu	37	12	53685501	53685501	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53685501A>C	ENST00000257934.4	+	26	5639	c.5548A>C	c.(5548-5550)Acc>Ccc	p.T1850P	ESPL1_ENST00000552462.1_Missense_Mutation_p.T1850P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1850					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGGTGCCCTCACCCCTCAGGA	0.582																																					Colon(53;1069 1201 2587 5382)	dbGAP											0													155.0	156.0	155.0					12																	53685501		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5548A>C	12.37:g.53685501A>C	ENSP00000257934:p.Thr1850Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C50	p.T1850P	ENST00000257934.4	37	c.5548	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	a	11.34	1.611293	0.28712	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12672	2.66;2.66	4.67	0.661	0.17874	.	0.333230	0.30723	N	0.009014	T	0.17577	0.0422	L	0.46157	1.445	0.28795	N	0.899102	D	0.55172	0.97	P	0.55455	0.776	T	0.04178	-1.0971	10	0.56958	D	0.05	.	4.7921	0.13254	0.6271:0.0:0.0862:0.2867	.	1850	Q14674	ESPL1_HUMAN	P	1850;1525;1850	ENSP00000257934:T1850P;ENSP00000449831:T1850P	ENSP00000257934:T1850P	T	+	1	0	ESPL1	51971768	0.011000	0.17503	0.263000	0.24496	0.079000	0.17450	0.709000	0.25734	0.366000	0.24427	0.524000	0.50904	ACC	ESPL1	-	pfam_Peptidase_C50	ENSG00000135476		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	179	0.55	1	A	NM_012291		53685501	53685501	+1	no_errors	ENST00000257934	ensembl	human	known	69_37n	missense	147	13.37	23	SNP	0.732	C
ESX1	80712	genome.wustl.edu	37	X	103495263	103495263	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:103495263T>G	ENST00000372588.4	-	4	950	c.867A>C	c.(865-867)ccA>ccC	p.P289P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	289	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGCGTGGCCCGGGTG	0.731																																					Pancreas(200;1705 2227 25194 28471 45274)	dbGAP											0													21.0	24.0	23.0					X																	103495263		2187	4270	6457	-	-	-	SO:0001819	synonymous_variant	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.867A>C	X.37:g.103495263T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU3|Q7Z6K7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain	p.P289	ENST00000372588.4	37	c.867	CCDS14516.1	X																																																																																			ESX1	-	NULL	ENSG00000123576		0.731	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	47	0.00	0	T	NM_153448		103495263	103495263	-1	no_errors	ENST00000372588	ensembl	human	known	69_37n	silent	29	14.71	5	SNP	0.132	G
ESX1	80712	genome.wustl.edu	37	X	103497468	103497468	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:103497468A>C	ENST00000372588.4	-	3	631	c.548T>G	c.(547-549)gTg>gGg	p.V183G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	183					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACTGACCTGCACTCTGTCTTC	0.393																																					Pancreas(200;1705 2227 25194 28471 45274)	dbGAP											0													236.0	219.0	225.0					X																	103497468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.548T>G	X.37:g.103497468A>C	ENSP00000361669:p.Val183Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain	p.V183G	ENST00000372588.4	37	c.548	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064512	0.55432	.	.	ENSG00000123576	ENST00000372588	D	0.98567	-5.0	4.79	4.79	0.61399	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	.	.	.	.	D	0.98861	0.9615	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99755	1.1019	9	0.87932	D	0	-32.4183	9.6969	0.40163	1.0:0.0:0.0:0.0	.	183	Q8N693	ESX1_HUMAN	G	183	ENSP00000361669:V183G	ENSP00000361669:V183G	V	-	2	0	ESX1	103384124	1.000000	0.71417	0.999000	0.59377	0.689000	0.40095	4.192000	0.58378	1.892000	0.54788	0.481000	0.45027	GTG	ESX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain	ENSG00000123576		0.393	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	294	0.00	0	A	NM_153448		103497468	103497468	-1	no_errors	ENST00000372588	ensembl	human	known	69_37n	missense	194	11.31	25	SNP	0.999	C
ESYT1	23344	genome.wustl.edu	37	12	56531159	56531159	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56531159T>G	ENST00000394048.5	+	17	2202		c.e17+2		ESYT1_ENST00000267113.4_Splice_Site|ESYT1_ENST00000541590.1_Splice_Site	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1						lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGGACTGAGGTGAGTCTATAT	0.547																																						dbGAP											0													99.0	100.0	100.0					12																	56531159		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1938+2T>G	12.37:g.56531159T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Splice_Site	SNP	-	e17+2	ENST00000394048.5	37	c.1968+2	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486198	0.44147	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6805	0.56918	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESYT1	54817426	1.000000	0.71417	0.974000	0.42286	0.435000	0.31806	3.919000	0.56439	2.038000	0.60285	0.533000	0.62120	.	ESYT1	-	-	ENSG00000139641		0.547	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	99	1.00	1	T	NM_015292	Intron	56531159	56531159	+1	no_errors	ENST00000267113	ensembl	human	known	69_37n	splice_site	159	12.43	23	SNP	1.000	G
ETFDH	2110	genome.wustl.edu	37	4	159620193	159620193	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:159620193T>G	ENST00000511912.1	+	9	1359	c.1027T>G	c.(1027-1029)Tgg>Ggg	p.W343G	ETFDH_ENST00000307738.5_Missense_Mutation_p.W296G|U3_ENST00000607547.1_RNA	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	343					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GTTCCAAAGGTGGAAACACCA	0.393																																						dbGAP											0													101.0	96.0	97.0					4																	159620193		2203	4300	6503	-	-	-	SO:0001583	missense	0			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1027T>G	4.37:g.159620193T>G	ENSP00000426638:p.Trp343Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.W343G	ENST00000511912.1	37	c.1027	CCDS3800.1	4	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644787	0.87859	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.87809	-2.3;-2.3	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	M	0.84773	2.715	0.80722	D	1	P;P;D	0.56968	0.952;0.952;0.978	D;D;D	0.71414	0.962;0.951;0.973	D	0.94698	0.7880	10	0.87932	D	0	-21.5943	16.4696	0.84102	0.0:0.0:0.0:1.0	.	296;282;343	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	G	343;296	ENSP00000426638:W343G;ENSP00000303552:W296G	ENSP00000303552:W296G	W	+	1	0	ETFDH	159839643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.289000	0.77006	0.482000	0.46254	TGG	ETFDH	-	NULL	ENSG00000171503		0.393	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2	238	0.42	1	T			159620193	159620193	+1	no_errors	ENST00000511912	ensembl	human	known	69_37n	missense	191	11.52	25	SNP	1.000	G
ETNK2	55224	genome.wustl.edu	37	1	204106365	204106365	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:204106365A>C	ENST00000367202.4	-	6	1031	c.881T>G	c.(880-882)gTg>gGg	p.V294G	ETNK2_ENST00000367198.2_Missense_Mutation_p.V116G|ETNK2_ENST00000477125.1_5'Flank|ETNK2_ENST00000367201.3_Missense_Mutation_p.V294G|ETNK2_ENST00000367199.2_Missense_Mutation_p.V225G|ETNK2_ENST00000367197.1_5'UTR	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	294					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGTAATCCACCTCATTCAC	0.617																																						dbGAP											0													47.0	44.0	45.0					1																	204106365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.881T>G	1.37:g.204106365A>C	ENSP00000356170:p.Val294Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.V294G	ENST00000367202.4	37	c.881	CCDS1442.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.63|19.63	3.863883|3.863883	0.71949|0.71949	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817|ENST00000422072	T;T;T;T;T;T;T|.	0.57907|.	0.46;0.46;0.46;0.46;0.46;0.46;0.37|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.216047|.	0.41396|.	D|.	0.000886|.	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.86178|0.86178	2.8|2.8	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.59767|.	0.959;0.967;0.986|.	P;P;P|.	0.61658|.	0.828;0.892;0.836|.	T|T	0.80728|0.80728	-0.1253|-0.1253	10|5	0.49607|.	T|.	0.09|.	-18.3786|-18.3786	13.5086|13.5086	0.61497|0.61497	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	253;294;294|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	G|G	294;294;225;160;116;160;151;140|57	ENSP00000356169:V294G;ENSP00000356170:V294G;ENSP00000356167:V225G;ENSP00000356166:V116G;ENSP00000405497:V160G;ENSP00000398091:V151G;ENSP00000406241:V140G|.	ENSP00000356166:V116G|.	V|W	-|-	2|1	0|0	ETNK2|ETNK2	202372988|202372988	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.884000|0.884000	0.51177|0.51177	4.671000|4.671000	0.61590|0.61590	2.012000|2.012000	0.59069|0.59069	0.260000|0.260000	0.18958|0.18958	GTG|TGG	ETNK2	-	pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom	ENSG00000143845		0.617	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1	73	0.00	0	A	NM_018208		204106365	204106365	-1	no_errors	ENST00000367201	ensembl	human	known	69_37n	missense	120	19.46	29	SNP	0.988	C
ETS1	2113	genome.wustl.edu	37	11	128359261	128359261	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:128359261A>C	ENST00000319397.6	-	3	636	c.327T>G	c.(325-327)ggT>ggG	p.G109G	ETS1_ENST00000345075.4_Silent_p.G109G|ETS1_ENST00000392668.4_Silent_p.G153G|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Silent_p.G109G|ETS1_ENST00000531611.1_Silent_p.G109G	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	109	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGCAGTCTTTACCCAGGGCGC	0.493																																						dbGAP											0													139.0	142.0	141.0					11																	128359261		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.327T>G	11.37:g.128359261A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.G153	ENST00000319397.6	37	c.459	CCDS8475.1	11																																																																																			ETS1	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets	ENSG00000134954		0.493	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	429	0.00	0	A	NM_005238		128359261	128359261	-1	no_errors	ENST00000392668	ensembl	human	known	69_37n	silent	291	10.98	36	SNP	0.853	C
ETS1	2113	genome.wustl.edu	37	11	128359312	128359312	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:128359312A>C	ENST00000319397.6	-	3	585	c.276T>G	c.(274-276)ggT>ggG	p.G92G	ETS1_ENST00000345075.4_Silent_p.G92G|ETS1_ENST00000392668.4_Silent_p.G136G|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Silent_p.G92G|ETS1_ENST00000531611.1_Silent_p.G92G	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	92	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGAAGTCTACACCTTTCAGGC	0.522																																						dbGAP											0													108.0	110.0	109.0					11																	128359312		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.276T>G	11.37:g.128359312A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.G136	ENST00000319397.6	37	c.408	CCDS8475.1	11																																																																																			ETS1	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets	ENSG00000134954		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	348	0.00	0	A	NM_005238		128359312	128359312	-1	no_errors	ENST00000392668	ensembl	human	known	69_37n	silent	234	11.94	32	SNP	0.505	C
ETS2	2114	genome.wustl.edu	37	21	40190507	40190507	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:40190507A>C	ENST00000360214.3	+	8	1208	c.748A>C	c.(748-750)Acc>Ccc	p.T250P	ETS2_ENST00000360938.3_Missense_Mutation_p.T250P	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	250					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGTCAGCGTCACCTACTGCTC	0.532																																						dbGAP											0													221.0	213.0	215.0					21																	40190507		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.748A>C	21.37:g.40190507A>C	ENSP00000353344:p.Thr250Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.T250P	ENST00000360214.3	37	c.748	CCDS13659.1	21	.	.	.	.	.	.	.	.	.	.	A	8.777	0.927207	0.18056	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000456966	T;T;T	0.30714	2.76;2.76;1.52	6.16	2.47	0.30058	.	0.717263	0.15087	N	0.281286	T	0.15262	0.0368	N	0.08118	0	0.21220	N	0.99975	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.19910	-1.0291	10	0.56958	D	0.05	.	7.4826	0.27415	0.7529:0.1201:0.1269:0.0	.	250;250	P15036;C9JAG2	ETS2_HUMAN;.	P	250	ENSP00000353344:T250P;ENSP00000354194:T250P;ENSP00000411086:T250P	ENSP00000353344:T250P	T	+	1	0	ETS2	39112377	0.546000	0.26457	0.391000	0.26233	0.025000	0.11179	1.591000	0.36665	0.177000	0.19895	-0.280000	0.10049	ACC	ETS2	-	pirsf_Transforming_factor_C-ets	ENSG00000157557		0.532	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS2	HGNC	protein_coding	OTTHUMT00000207544.1	313	0.32	1	A			40190507	40190507	+1	no_errors	ENST00000360214	ensembl	human	known	69_37n	missense	264	12.29	37	SNP	0.803	C
ETV3L	440695	genome.wustl.edu	37	1	157068562	157068562	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:157068562T>G	ENST00000454449.2	-	3	706	c.422A>C	c.(421-423)cAc>cCc	p.H141P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	141					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGCAGCAAGTGGGGGGATGG	0.602																																						dbGAP											0													52.0	58.0	56.0					1																	157068562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.422A>C	1.37:g.157068562T>G	ENSP00000430271:p.His141Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.H141P	ENST00000454449.2	37	c.422	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	T	2.231	-0.376100	0.05034	.	.	ENSG00000253831	ENST00000454449	T	0.53857	0.6	4.47	-2.43	0.06522	.	1.838470	0.03414	N	0.205247	T	0.16811	0.0404	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17228	-1.0376	10	0.36615	T	0.2	.	6.4789	0.22051	0.0:0.3643:0.3841:0.2516	.	141	Q6ZN32	ETV3L_HUMAN	P	141	ENSP00000430271:H141P	ENSP00000430271:H141P	H	-	2	0	ETV3L	155335186	0.000000	0.05858	0.036000	0.18154	0.167000	0.22549	-0.265000	0.08644	-0.209000	0.10156	0.533000	0.62120	CAC	ETV3L	-	NULL	ENSG00000253831		0.602	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	HGNC	protein_coding	OTTHUMT00000099024.2	58	0.00	0	T	NM_001004341		157068562	157068562	-1	no_errors	ENST00000454449	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	0.000	G
EXOC4	60412	genome.wustl.edu	37	7	133002111	133002111	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:133002111A>C	ENST00000253861.4	+	5	759	c.730A>C	c.(730-732)Acc>Ccc	p.T244P	EXOC4_ENST00000539845.1_Missense_Mutation_p.T143P|EXOC4_ENST00000393161.2_Missense_Mutation_p.T244P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	244					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATTCCTTGATACCTCTCACTA	0.413																																						dbGAP											0													223.0	207.0	212.0					7																	133002111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.730A>C	7.37:g.133002111A>C	ENSP00000253861:p.Thr244Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.T244P	ENST00000253861.4	37	c.730	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	A	5.035	0.192201	0.09599	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.4	-1.21	0.09524	.	0.511498	0.22867	N	0.054665	T	0.22322	0.0538	N	0.21448	0.665	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13575	-1.0504	9	0.26408	T	0.33	.	7.1266	0.25475	0.2448:0.0:0.5958:0.1594	.	244;244	Q96A65;Q8TAR2	EXOC4_HUMAN;.	P	244;244;143	.	ENSP00000253861:T244P	T	+	1	0	EXOC4	132652651	0.000000	0.05858	0.006000	0.13384	0.480000	0.33159	-0.084000	0.11268	-0.119000	0.11830	-0.379000	0.06801	ACC	EXOC4	-	NULL	ENSG00000131558		0.413	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	297	1.00	3	A	NM_021807		133002111	133002111	+1	no_errors	ENST00000253861	ensembl	human	known	69_37n	missense	207	12.61	30	SNP	0.005	C
EXOSC9	5393	genome.wustl.edu	37	4	122734398	122734398	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:122734398T>G	ENST00000243498.5	+	9	945	c.837T>G	c.(835-837)ggT>ggG	p.G279G	EXOSC9_ENST00000379663.3_Silent_p.G279G|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Silent_p.G263G	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	279					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GGAAAGAAGGTGGAAAGTTTG	0.398																																						dbGAP											0													81.0	92.0	88.0					4																	122734398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.837T>G	4.37:g.122734398T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.G279	ENST00000243498.5	37	c.837	CCDS3722.2	4																																																																																			EXOSC9	-	NULL	ENSG00000123737		0.398	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	201	0.98	2	T	NM_005033		122734398	122734398	+1	no_errors	ENST00000379663	ensembl	human	known	69_37n	silent	143	17.71	31	SNP	0.998	G
EXT2	2132	genome.wustl.edu	37	11	44135750	44135750	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:44135750T>G	ENST00000343631.3	+	4	771	c.642T>G	c.(640-642)ggT>ggG	p.G214G	EXT2_ENST00000358681.4_Silent_p.G214G|EXT2_ENST00000395673.3_Silent_p.G247G|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000533608.1_Silent_p.G214G			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	214					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGTTGGCTGGTGGCGGCTTTT	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													132.0	120.0	124.0					11																	44135750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.642T>G	11.37:g.44135750T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.G247	ENST00000343631.3	37	c.741	CCDS7908.1	11																																																																																			EXT2	-	pfam_Exostosin	ENSG00000151348		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXT2	HGNC	protein_coding	OTTHUMT00000390074.1	306	0.00	0	T	NM_000401		44135750	44135750	+1	no_errors	ENST00000395673	ensembl	human	known	69_37n	silent	367	16.21	71	SNP	0.126	G
EYA1	2138	genome.wustl.edu	37	8	72229893	72229893	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:72229893A>C	ENST00000340726.3	-	7	1089	c.450T>G	c.(448-450)ggT>ggG	p.G150G	EYA1_ENST00000388741.2_Silent_p.G116G|EYA1_ENST00000388742.4_Silent_p.G150G|EYA1_ENST00000419131.1_Silent_p.G145G|EYA1_ENST00000388740.3_Silent_p.G117G|EYA1_ENST00000388743.2_Silent_p.G149G|EYA1_ENST00000303824.7_Silent_p.G144G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	150					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGACAATCCACCTTCAGTCT	0.443																																						dbGAP											0													281.0	256.0	264.0					8																	72229893		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.450T>G	8.37:g.72229893A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	NULL	p.V123G	ENST00000340726.3	37	c.368	CCDS34906.1	8																																																																																			EYA1	-	NULL	ENSG00000104313		0.443	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	340	0.00	0	A	NM_000503, NM_172060		72229893	72229893	-1	no_errors	ENST00000465115	ensembl	human	known	69_37n	missense	220	11.65	29	SNP	0.999	C
EYA3	2140	genome.wustl.edu	37	1	28354403	28354403	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:28354403A>C	ENST00000373871.3	-	7	636	c.396T>G	c.(394-396)ggT>ggG	p.G132G	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Silent_p.G6G|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000545175.1_Silent_p.G79G|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000540618.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	132					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGAATTAAACCACTTTCAG	0.438																																						dbGAP											0													206.0	198.0	201.0					1																	28354403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.396T>G	1.37:g.28354403A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.G132	ENST00000373871.3	37	c.396	CCDS316.1	1																																																																																			EYA3	-	NULL	ENSG00000158161		0.438	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	234	0.00	0	A	NM_001990		28354403	28354403	-1	no_errors	ENST00000373871	ensembl	human	known	69_37n	silent	183	15.28	33	SNP	1.000	C
EYA3	2140	genome.wustl.edu	37	1	28354406	28354406	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:28354406A>C	ENST00000373871.3	-	7	633	c.393T>G	c.(391-393)agT>agG	p.S131R	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.S5R|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000545175.1_Missense_Mutation_p.S78R|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000540618.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	131					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GAATTAAACCACTTTCAGGTT	0.433																																						dbGAP											0													199.0	190.0	193.0					1																	28354406		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.393T>G	1.37:g.28354406A>C	ENSP00000362978:p.Ser131Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.S131R	ENST00000373871.3	37	c.393	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815227	0.70912	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000545175	D;D;D	0.93953	-2.96;-3.32;-2.95	4.45	4.45	0.53987	.	0.153666	0.56097	D	0.000026	D	0.89722	0.6797	L	0.27053	0.805	0.33613	D	0.603797	P	0.47677	0.899	P	0.47573	0.55	D	0.90428	0.4422	10	0.21014	T	0.42	-7.2766	13.8796	0.63674	1.0:0.0:0.0:0.0	.	131	Q99504	EYA3_HUMAN	R	131;5;78	ENSP00000362978:S131R;ENSP00000405587:S5R;ENSP00000442280:S78R	ENSP00000362978:S131R	S	-	3	2	EYA3	28226993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.654000	0.54453	1.859000	0.53934	0.383000	0.25322	AGT	EYA3	-	NULL	ENSG00000158161		0.433	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	233	0.00	0	A	NM_001990		28354406	28354406	-1	no_errors	ENST00000373871	ensembl	human	known	69_37n	missense	182	13.27	28	SNP	1.000	C
EZH1	2145	genome.wustl.edu	37	17	40864451	40864451	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:40864451T>G	ENST00000428826.2	-	12	1378	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	EZH1_ENST00000435174.1_Silent_p.P280P|EZH1_ENST00000415827.2_Silent_p.P410P|EZH1_ENST00000585893.1_Silent_p.P379P|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000590078.1_Silent_p.P349P|EZH1_ENST00000592743.1_Silent_p.P419P			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	419					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AGAGTTGAGGTGGGGCTGGAC	0.498																																						dbGAP											0													132.0	125.0	127.0					17																	40864451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1257A>C	17.37:g.40864451T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.P419	ENST00000428826.2	37	c.1257	CCDS32659.1	17																																																																																			EZH1	-	NULL	ENSG00000108799		0.498	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	107	0.00	0	T	NM_001991		40864451	40864451	-1	no_errors	ENST00000428826	ensembl	human	known	69_37n	silent	149	13.37	23	SNP	0.184	G
FABP3	2170	genome.wustl.edu	37	1	31842272	31842272	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:31842272A>C	ENST00000373713.2	-	2	267	c.206T>G	c.(205-207)gTg>gGg	p.V69G	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	69					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ATCGAACTCCACCCCCAACTT	0.473																																						dbGAP											0													483.0	419.0	441.0					1																	31842272		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.206T>G	1.37:g.31842272A>C	ENSP00000362817:p.Val69Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.V69G	ENST00000373713.2	37	c.206	CCDS342.1	1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331562	0.41297	.	.	ENSG00000121769	ENST00000373713	T	0.10099	2.91	4.85	2.38	0.29361	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.202037	0.49916	D	0.000130	T	0.16128	0.0388	M	0.69248	2.105	0.44395	D	0.997303	B	0.18610	0.029	B	0.34180	0.177	T	0.03545	-1.1026	10	0.72032	D	0.01	.	9.6897	0.40120	0.4017:0.0:0.0:0.5983	.	69	P05413	FABPH_HUMAN	G	69	ENSP00000362817:V69G	ENSP00000362817:V69G	V	-	2	0	FABP3	31614859	0.965000	0.33210	0.997000	0.53966	0.869000	0.49853	2.368000	0.44222	0.370000	0.24538	0.529000	0.55759	GTG	FABP3	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000121769		0.473	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP3	HGNC	protein_coding	OTTHUMT00000010683.1	454	0.44	2	A	NM_004102		31842272	31842272	-1	no_errors	ENST00000373713	ensembl	human	known	69_37n	missense	392	14.87	69	SNP	1.000	C
FAF1	11124	genome.wustl.edu	37	1	51050413	51050413	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:51050413A>C	ENST00000396153.2	-	10	1362	c.911T>G	c.(910-912)gTg>gGg	p.V304G	RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.V304G|FAF1_ENST00000545823.1_Missense_Mutation_p.V62G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	304					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCCATCATCCACCCCAAATTC	0.393																																						dbGAP											1	Whole gene deletion(1)	thyroid(1)											191.0	179.0	183.0					1																	51050413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.911T>G	1.37:g.51050413A>C	ENSP00000379457:p.Val304Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.V304G	ENST00000396153.2	37	c.911	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839486	0.71488	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823	T;T	0.34275	1.37;1.37	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	L	0.44542	1.39	0.80722	D	1	P;P	0.52842	0.956;0.956	B;P	0.47528	0.444;0.549	T	0.07462	-1.0771	10	0.14656	T	0.56	-13.0439	15.8926	0.79312	1.0:0.0:0.0:0.0	.	62;304	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	G	304;304;62	ENSP00000379457:V304G;ENSP00000360843:V304G	ENSP00000360843:V304G	V	-	2	0	FAF1	50823001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.867000	0.75511	2.205000	0.71048	0.533000	0.62120	GTG	FAF1	-	NULL	ENSG00000185104		0.393	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	143	0.69	1	A	NM_007051		51050413	51050413	-1	no_errors	ENST00000371778	ensembl	human	known	69_37n	missense	94	22.31	27	SNP	1.000	C
FAM102B	284611	genome.wustl.edu	37	1	109171358	109171358	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109171358T>G	ENST00000370035.3	+	9	1242	c.902T>G	c.(901-903)gTg>gGg	p.V301G	FAM102B_ENST00000405454.1_Missense_Mutation_p.V301G	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	301										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GACACCAGGGTGGATGCAGAT	0.383																																						dbGAP											0													76.0	69.0	72.0					1																	109171358		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.902T>G	1.37:g.109171358T>G	ENSP00000359052:p.Val301Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	pfam_NT-C2	p.V301G	ENST00000370035.3	37	c.902	CCDS30786.2	1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650380	0.87958	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.30714	1.52;1.52	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61138	-0.7123	10	0.87932	D	0	-11.6804	16.2421	0.82418	0.0:0.0:0.0:1.0	.	301	Q5T8I3	F102B_HUMAN	G	301	ENSP00000359052:V301G;ENSP00000386084:V301G	ENSP00000359052:V301G	V	+	2	0	FAM102B	108972881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	GTG	FAM102B	-	NULL	ENSG00000162636		0.383	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102B	HGNC	protein_coding	OTTHUMT00000030188.3	102	0.00	0	T	NM_001010883		109171358	109171358	+1	no_errors	ENST00000370035	ensembl	human	known	69_37n	missense	69	21.59	19	SNP	1.000	G
FAM111A	63901	genome.wustl.edu	37	11	58919898	58919898	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:58919898A>C	ENST00000528737.1	+	5	3575	c.757A>C	c.(757-759)Acc>Ccc	p.T253P	FAM111A_ENST00000533703.1_Missense_Mutation_p.T253P|FAM111A_ENST00000531147.1_Missense_Mutation_p.T253P|FAM111A_ENST00000361723.3_Missense_Mutation_p.T253P|FAM111A_ENST00000420244.1_Missense_Mutation_p.T253P			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	253					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTAGAAAGCACCCAGCCAGT	0.428																																						dbGAP											0													98.0	97.0	98.0					11																	58919898		2201	4295	6496	-	-	-	SO:0001583	missense	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.757A>C	11.37:g.58919898A>C	ENSP00000434435:p.Thr253Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.T253P	ENST00000528737.1	37	c.757	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047401	0.75846	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.8	3.3	0.37823	.	0.307523	0.31809	N	0.007023	T	0.55862	0.1947	L	0.53249	1.67	0.29404	N	0.861726	D	0.63880	0.993	P	0.59288	0.855	T	0.55579	-0.8119	10	0.72032	D	0.01	-4.8949	9.5126	0.39087	0.473:0.0:0.0:0.527	.	253	Q96PZ2	F111A_HUMAN	P	253	ENSP00000434435:T253P;ENSP00000406683:T253P;ENSP00000355264:T253P;ENSP00000433154:T253P;ENSP00000431631:T253P	ENSP00000355264:T253P	T	+	1	0	FAM111A	58676474	0.000000	0.05858	0.212000	0.23672	0.378000	0.30076	-0.782000	0.04643	0.406000	0.25560	0.528000	0.53228	ACC	FAM111A	-	NULL	ENSG00000166801		0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	187	0.00	0	A	NM_022074		58919898	58919898	+1	no_errors	ENST00000361723	ensembl	human	known	69_37n	missense	130	14.94	23	SNP	0.733	C
FAM114A1	92689	genome.wustl.edu	37	4	38879879	38879879	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:38879879T>G	ENST00000358869.2	+	3	356	c.180T>G	c.(178-180)ggT>ggG	p.G60G	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	60						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTGCAGGGTGCAGGGGCTG	0.587																																						dbGAP											0													36.0	37.0	37.0					4																	38879879		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.180T>G	4.37:g.38879879T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W6|Q6MZV4|Q9BVL6	Silent	SNP	pfam_DUF719	p.G60	ENST00000358869.2	37	c.180	CCDS3447.1	4																																																																																			FAM114A1	-	NULL	ENSG00000197712		0.587	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	31	0.00	0	T	NM_138389		38879879	38879879	+1	no_errors	ENST00000358869	ensembl	human	known	69_37n	silent	54	19.12	13	SNP	0.004	G
FAM115C	285966	genome.wustl.edu	37	7	143417368	143417368	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:143417368A>C	ENST00000441159.2	+	3	1282	c.1216A>C	c.(1216-1218)Acc>Ccc	p.T406P	FAM115C_ENST00000444908.2_Missense_Mutation_p.T406P|FAM115C_ENST00000409703.3_Missense_Mutation_p.T242P|FAM115C_ENST00000411935.1_Missense_Mutation_p.T242P|FAM115C_ENST00000425618.2_Missense_Mutation_p.T125P|FAM115C_ENST00000357344.4_Missense_Mutation_p.T406P|FAM115C_ENST00000411497.2_Missense_Mutation_p.T125P			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	406					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCCCGTTCCCACCCCTGAGAT	0.547																																						dbGAP											0													1.0	1.0	1.0					7																	143417368		36	60	96	-	-	-	SO:0001583	missense	0			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1216A>C	7.37:g.143417368A>C	ENSP00000404265:p.Thr406Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.T406P	ENST00000441159.2	37	c.1216		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.813|0.813	-0.751365|-0.751365	0.03041|0.03041	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|.	.|.	.|.	3.53|3.53	-4.19|-4.19	0.03835|0.03835	.|.	.|1.504890	.|0.03604	.|N	.|0.233857	T|T	0.25269|0.25269	0.0614|0.0614	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.09022	.|0.002;0.0;0.001;0.002	.|B;B;B;B	.|0.10450	.|0.002;0.002;0.002;0.005	T|T	0.08680|0.08680	-1.0710|-1.0710	5|9	.|0.30854	.|T	.|0.27	-2.735|-2.735	0.9663|0.9663	0.01406|0.01406	0.261:0.1713:0.111:0.4567|0.261:0.1713:0.111:0.4567	.|.	.|242;406;125;406	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	P|P	220|406;125;406;406;242;242;125	.|.	.|ENSP00000349902:T406P	H|T	+|+	2|1	0|0	FAM115C|FAM115C	143048301|143048301	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.609000|-0.609000	0.05635|0.05635	-0.693000|-0.693000	0.05121|0.05121	-0.871000|-0.871000	0.02989|0.02989	CAC|ACC	FAM115C	-	NULL	ENSG00000170379		0.547	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	20	0.00	0	A	NM_173678		143417368	143417368	+1	no_errors	ENST00000441159	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	0.000	C
FAM122A	116224	genome.wustl.edu	37	9	71395400	71395400	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:71395400T>G	ENST00000394264.3	+	1	437	c.320T>G	c.(319-321)gTg>gGg	p.V107G	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	107										endometrium(1)|lung(2)	3						GAACGGGAGGTGCAGACCGCA	0.572																																						dbGAP											0													155.0	155.0	155.0					9																	71395400		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.320T>G	9.37:g.71395400T>G	ENSP00000377807:p.Val107Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V107G	ENST00000394264.3	37	c.320	CCDS6623.1	9	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270146	0.59540	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.59638	0.25	4.2	4.2	0.49525	.	0.064498	0.64402	D	0.000008	T	0.68723	0.3032	M	0.81497	2.545	0.80722	D	1	D	0.61697	0.99	P	0.55260	0.772	T	0.73820	-0.3862	10	0.87932	D	0	-17.1276	9.9578	0.41678	0.0:0.0:0.0:1.0	.	107	Q96E09	F122A_HUMAN	G	107;91	ENSP00000377807:V107G	ENSP00000366492:V91G	V	+	2	0	FAM122A	70585220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.734000	0.68580	2.134000	0.65973	0.460000	0.39030	GTG	FAM122A	-	NULL	ENSG00000187866		0.572	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1	131	0.00	0	T	NM_138333		71395400	71395400	+1	no_errors	ENST00000394264	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	1.000	G
FAM122C	159091	genome.wustl.edu	37	X	133941483	133941483	+	5'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:133941483T>G	ENST00000370784.4	+	0	261				FAM122C_ENST00000370785.3_5'UTR|FAM122C_ENST00000445123.1_Intron|FAM122C_ENST00000475361.1_3'UTR|FAM122C_ENST00000414371.2_Intron	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GCTGCAAAGGTGGGCACCCCT	0.522																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.-146T>G	X.37:g.133941483T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H036|Q8WVK9	RNA	SNP	-	NULL	ENST00000370784.4	37	NULL	CCDS55501.1	X																																																																																			FAM122C	-	-	ENSG00000156500		0.522	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM122C	HGNC	protein_coding		77	0.00	0	T	NM_138819		133941483	133941483	+1	no_errors	ENST00000470657	ensembl	human	known	69_37n	rna	115	20.41	30	SNP	0.038	G
FAM134A	79137	genome.wustl.edu	37	2	220047075	220047075	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:220047075A>C	ENST00000430297.2	+	9	1492	c.1356A>C	c.(1354-1356)ccA>ccC	p.P452P		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	452						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCACCTCCACTTTGCCTTG	0.627																																						dbGAP											0													102.0	105.0	104.0					2																	220047075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1356A>C	2.37:g.220047075A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1P5|Q9H0K7	Silent	SNP	pfam_Reticulon	p.P452	ENST00000430297.2	37	c.1356	CCDS2434.1	2																																																																																			FAM134A	-	NULL	ENSG00000144567		0.627	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	133	0.00	0	A	NM_024293		220047075	220047075	+1	no_errors	ENST00000430297	ensembl	human	known	69_37n	silent	121	15.38	22	SNP	1.000	C
FAM149A	25854	genome.wustl.edu	37	4	187084674	187084674	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:187084674A>C	ENST00000356371.5	+	10	1803	c.1803A>C	c.(1801-1803)tcA>tcC	p.S601S	FAM149A_ENST00000503432.1_Silent_p.S310S|FAM149A_ENST00000227065.4_Silent_p.S310S|FAM149A_ENST00000514153.1_Silent_p.S310S|FAM149A_ENST00000502970.1_Silent_p.S310S|FAM149A_ENST00000389354.5_Silent_p.S310S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	601										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		ATGGATTATCACCTTCTGCAA	0.527																																						dbGAP											0													83.0	83.0	83.0					4																	187084674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1803A>C	4.37:g.187084674A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	pfam_DUF3719	p.S601	ENST00000356371.5	37	c.1803		4																																																																																			FAM149A	-	NULL	ENSG00000109794		0.527	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		71	0.00	0	A	NM_001006655		187084674	187084674	+1	no_errors	ENST00000356371	ensembl	human	known	69_37n	silent	109	16.79	22	SNP	0.000	C
FAM160A2	84067	genome.wustl.edu	37	11	6238903	6238903	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6238903A>C	ENST00000449352.2	-	9	2176	c.1913T>G	c.(1912-1914)gTg>gGg	p.V638G	FAM160A2_ENST00000265978.4_Missense_Mutation_p.V652G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000524416.1_Missense_Mutation_p.V638G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	638					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGATCCTGGCACTCCATTGAG	0.667																																						dbGAP											0													33.0	35.0	35.0					11																	6238903		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1913T>G	11.37:g.6238903A>C	ENSP00000416918:p.Val638Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.V652G	ENST00000449352.2	37	c.1955	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	A	8.735	0.917557	0.17982	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.41400	1.0;1.0;1.0	5.31	4.17	0.49024	.	0.618553	0.15953	N	0.236624	T	0.22399	0.0540	N	0.14661	0.345	0.24003	N	0.996207	B;B;B	0.24823	0.112;0.08;0.004	B;B;B	0.22386	0.039;0.018;0.015	T	0.08680	-1.0710	10	0.22706	T	0.39	-12.4704	6.377	0.21513	0.8895:0.0:0.1105:0.0	.	638;638;652	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	G	638;563;652;638	ENSP00000416918:V638G;ENSP00000265978:V652G;ENSP00000431773:V638G	ENSP00000265978:V652G	V	-	2	0	FAM160A2	6195479	0.767000	0.28508	0.339000	0.25562	0.740000	0.42216	2.888000	0.48594	2.234000	0.73211	0.459000	0.35465	GTG	FAM160A2	-	NULL	ENSG00000051009		0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	65	0.00	0	A	NM_032127		6238903	6238903	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	missense	143	12.57	21	SNP	0.210	C
FAM161A	84140	genome.wustl.edu	37	2	62066908	62066908	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:62066908A>C	ENST00000405894.3	-	3	1332	c.1231T>G	c.(1231-1233)Tgt>Ggt	p.C411G	FAM161A_ENST00000404929.1_Missense_Mutation_p.C411G	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	411					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTTCAGGACACCTGGGGTTC	0.493																																						dbGAP											0													90.0	87.0	88.0					2																	62066908		1960	4139	6099	-	-	-	SO:0001583	missense	0				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1231T>G	2.37:g.62066908A>C	ENSP00000385893:p.Cys411Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV7|Q9H8R2	Missense_Mutation	SNP	pfam_UPF0564	p.C411G	ENST00000405894.3	37	c.1231	CCDS42687.2	2	.	.	.	.	.	.	.	.	.	.	A	5.493	0.276016	0.10403	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.21031	2.03;2.03	5.67	-11.3	0.00108	.	2.089810	0.01368	N	0.012463	T	0.10423	0.0255	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.16289	0.015;0.005	T	0.16748	-1.0392	10	0.22109	T	0.4	-14.1741	2.1017	0.03682	0.1528:0.1435:0.2465:0.4572	.	411;411	Q3B820;Q3B820-3	F161A_HUMAN;.	G	411	ENSP00000385158:C411G;ENSP00000385893:C411G	ENSP00000385158:C411G	C	-	1	0	FAM161A	61920412	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.871000	0.01640	-3.212000	0.00214	-0.344000	0.07964	TGT	FAM161A	-	pfam_UPF0564	ENSG00000170264		0.493	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM161A	HGNC	protein_coding	OTTHUMT00000325537.2	100	0.99	1	A	NM_032180		62066908	62066908	-1	no_errors	ENST00000405894	ensembl	human	known	69_37n	missense	103	13.45	16	SNP	0.000	C
FAM171A1	221061	genome.wustl.edu	37	10	15262969	15262969	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:15262969A>C	ENST00000378116.4	-	6	851	c.845T>G	c.(844-846)gTg>gGg	p.V282G	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	282						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CATGGCGGCCACCCAGTACCC	0.572																																						dbGAP											0													111.0	106.0	107.0					10																	15262969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.845T>G	10.37:g.15262969A>C	ENSP00000367356:p.Val282Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.V282G	ENST00000378116.4	37	c.845	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446071	0.84101	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.37915	1.17	5.76	4.62	0.57501	.	0.067593	0.56097	D	0.000021	T	0.50837	0.1639	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.51317	-0.8721	10	0.87932	D	0	-29.5347	11.4529	0.50164	0.9298:0.0:0.0701:0.0	.	282	Q5VUB5	F1711_HUMAN	G	282;283	ENSP00000367356:V282G	ENSP00000367356:V282G	V	-	2	0	FAM171A1	15302975	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.174000	0.77620	1.007000	0.39238	0.460000	0.39030	GTG	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.572	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	86	0.00	0	A	XM_167709		15262969	15262969	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	missense	61	23.75	19	SNP	1.000	C
FAM179B	23116	genome.wustl.edu	37	14	45523696	45523696	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:45523696T>G	ENST00000361577.3	+	15	4558	c.4344T>G	c.(4342-4344)agT>agG	p.S1448R	FAM179B_ENST00000361462.2_Missense_Mutation_p.S1501R|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1448										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATACTGGCAGTGTTGGAAATA	0.353																																						dbGAP											0													102.0	96.0	98.0					14																	45523696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4344T>G	14.37:g.45523696T>G	ENSP00000355045:p.Ser1448Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1448R	ENST00000361577.3	37	c.4344	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641722	0.47153	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.19250	2.16;2.16	4.77	4.77	0.60923	Armadillo-type fold (1);	0.292455	0.38005	N	0.001854	T	0.23727	0.0574	L	0.58101	1.795	0.80722	D	1	B;B	0.20052	0.041;0.019	B;B	0.20955	0.032;0.031	T	0.03443	-1.1036	10	0.51188	T	0.08	-1.0967	13.1516	0.59492	0.0:0.0:0.0:1.0	.	1501;1448	G3XAE9;Q9Y4F4	.;F179B_HUMAN	R	1448;1501	ENSP00000355045:S1448R;ENSP00000354917:S1501R	ENSP00000354917:S1501R	S	+	3	2	FAM179B	44593446	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.812000	0.38952	1.780000	0.52325	0.524000	0.50904	AGT	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.353	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	90	0.00	0	T	XM_113781		45523696	45523696	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	missense	69	18.82	16	SNP	1.000	G
FAM184A	79632	genome.wustl.edu	37	6	119282952	119282952	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:119282952T>G	ENST00000338891.7	-	17	3758	c.3315A>C	c.(3313-3315)ccA>ccC	p.P1105P	FAM184A_ENST00000368475.4_Silent_p.P901P|FAM184A_ENST00000521531.1_Silent_p.P1021P|FAM184A_ENST00000352896.5_Silent_p.P936P|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1105						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCCCTTTAGGTGGCACTGGCT	0.438																																						dbGAP											0													191.0	195.0	194.0					6																	119282952		1925	4140	6065	-	-	-	SO:0001819	synonymous_variant	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3315A>C	6.37:g.119282952T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	NULL	p.H360P	ENST00000338891.7	37	c.1079	CCDS43499.1	6																																																																																			FAM184A	-	NULL	ENSG00000111879		0.438	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	187	0.00	0	T	NM_024581		119282952	119282952	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000475529	ensembl	human	known	69_37n	missense	150	14.77	26	SNP	1.000	G
FAM188B	84182	genome.wustl.edu	37	7	30830832	30830832	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:30830832A>C	ENST00000265299.6	+	5	792	c.715A>C	c.(715-717)Acc>Ccc	p.T239P	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	239										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCAGCTCCACCCAACCCCA	0.557																																						dbGAP											0													121.0	129.0	126.0					7																	30830832		1936	4138	6074	-	-	-	SO:0001583	missense	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.715A>C	7.37:g.30830832A>C	ENSP00000265299:p.Thr239Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.T239P	ENST00000265299.6	37	c.715	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	A	13.88	2.370296	0.42003	.	.	ENSG00000106125	ENST00000265299	T	0.03330	3.97	4.2	-3.22	0.05125	.	1.443960	0.04145	N	0.320187	T	0.04272	0.0118	L	0.53249	1.67	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.48502	-0.9030	10	0.87932	D	0	-26.4111	0.9663	0.01406	0.3516:0.1766:0.3118:0.16	.	239	Q4G0A6	F188B_HUMAN	P	239	ENSP00000265299:T239P	ENSP00000265299:T239P	T	+	1	0	FAM188B	30797357	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.558000	0.05978	-0.289000	0.09038	0.460000	0.39030	ACC	FAM188B	-	NULL	ENSG00000106125		0.557	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	182	0.00	0	A	NM_032222		30830832	30830832	+1	no_errors	ENST00000265299	ensembl	human	known	69_37n	missense	236	10.57	28	SNP	0.000	C
FAM188B	84182	genome.wustl.edu	37	7	30830880	30830880	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:30830880A>C	ENST00000265299.6	+	5	840	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	255										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTGTCTGCACCCAACAGGA	0.557																																						dbGAP											0													94.0	103.0	100.0					7																	30830880		1972	4151	6123	-	-	-	SO:0001583	missense	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.763A>C	7.37:g.30830880A>C	ENSP00000265299:p.Thr255Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.T255P	ENST00000265299.6	37	c.763	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	A	11.14	1.552277	0.27739	.	.	ENSG00000106125	ENST00000265299	T	0.27402	1.67	3.88	-7.51	0.01346	.	1.005660	0.08006	N	0.989552	T	0.20251	0.0487	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41124	-0.9526	10	0.87932	D	0	.	5.8467	0.18669	0.3762:0.3758:0.248:0.0	.	255	Q4G0A6	F188B_HUMAN	P	255	ENSP00000265299:T255P	ENSP00000265299:T255P	T	+	1	0	FAM188B	30797405	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.746000	0.26275	-1.178000	0.02741	-0.461000	0.05368	ACC	FAM188B	-	NULL	ENSG00000106125		0.557	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	156	0.64	1	A	NM_032222		30830880	30830880	+1	no_errors	ENST00000265299	ensembl	human	known	69_37n	missense	184	15.07	33	SNP	0.000	C
FAM189A2	9413	genome.wustl.edu	37	9	71990653	71990653	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:71990653T>G	ENST00000257515.8	+	4	545	c.125T>G	c.(124-126)gTg>gGg	p.V42G	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Splice_Site_p.V42G	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	42						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCCGTTAAGGTGGACTTAGGT	0.408																																						dbGAP											0													121.0	117.0	118.0					9																	71990653		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.124-1T>G	9.37:g.71990653T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	pfam_CD20-like	p.V42G	ENST00000257515.8	37	c.125	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494034	0.64186	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.03035	4.07;4.07	5.53	5.53	0.82687	.	0.169633	0.40908	D	0.000993	T	0.12433	0.0302	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.01087	-1.1456	10	0.87932	D	0	-22.5727	15.316	0.74078	0.0:0.0:0.0:1.0	.	42	Q15884	F1892_HUMAN	G	42;42;41	ENSP00000395675:V42G;ENSP00000257515:V42G	ENSP00000257515:V42G	V	+	2	0	FAM189A2	71180473	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.338000	0.65947	2.100000	0.63781	0.379000	0.24179	GTG	FAM189A2	-	pfam_CD20-like	ENSG00000135063		0.408	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	205	0.48	1	T	NM_004816	Missense_Mutation	71990653	71990653	+1	no_errors	ENST00000257515	ensembl	human	known	69_37n	missense	196	14.04	32	SNP	1.000	G
FAM189B	10712	genome.wustl.edu	37	1	155223496	155223496	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155223496T>G	ENST00000361361.2	-	5	1050	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.T162P|FAM189B_ENST00000350210.2_Missense_Mutation_p.T85P|SCAMP3_ENST00000472397.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	181						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACAAATGGTGAGCCCACAG	0.547																																						dbGAP											0													92.0	82.0	85.0					1																	155223496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.541A>C	1.37:g.155223496T>G	ENSP00000354958:p.Thr181Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	pfam_CD20-like	p.T181P	ENST00000361361.2	37	c.541	CCDS1103.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371983	0.82573	.	.	ENSG00000160767	ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082	T;T;T;T	0.03301	3.98;4.15;4.15;3.98	3.9	3.9	0.45041	.	0.071197	0.56097	D	0.000026	T	0.04407	0.0121	N	0.22421	0.69	0.41284	D	0.98693	D;D;D	0.76494	0.999;0.997;0.993	D;D;P	0.75484	0.971;0.986;0.907	T	0.46119	-0.9214	10	0.72032	D	0.01	.	11.0206	0.47715	0.0:0.0:0.0:1.0	.	162;85;181	B1AVS5;P81408-2;P81408	.;.;F189B_HUMAN	P	85;85;162;181;85	ENSP00000307128:T85P;ENSP00000357352:T162P;ENSP00000354958:T181P;ENSP00000427011:T85P	ENSP00000333944:T85P	T	-	1	0	FAM189B	153490120	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.049000	0.64244	1.767000	0.52121	0.459000	0.35465	ACC	FAM189B	-	pfam_CD20-like	ENSG00000160767		0.547	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	87	0.00	0	T	NM_006589		155223496	155223496	-1	no_errors	ENST00000361361	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	G
CCSER2	54462	genome.wustl.edu	37	10	86185598	86185598	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:86185598A>C	ENST00000224756.8	+	5	2002	c.1817A>C	c.(1816-1818)cAc>cCc	p.H606P	CCSER2_ENST00000372088.2_Missense_Mutation_p.H606P|CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.H33P	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	606	His-rich.				microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GAGCATTACCACCTCAGCCAC	0.468																																						dbGAP											0													133.0	112.0	119.0					10																	86185598		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1817A>C	10.37:g.86185598A>C	ENSP00000224756:p.His606Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.H606P	ENST00000224756.8	37	c.1817	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192816	0.58017	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.32988	1.59;1.55;1.43	6.07	3.39	0.38822	.	0.190604	0.43260	N	0.000599	T	0.27063	0.0663	L	0.54323	1.7	0.53005	D	0.999966	B;B	0.18166	0.026;0.001	B;B	0.16289	0.015;0.003	T	0.11518	-1.0584	10	0.72032	D	0.01	-6.2643	7.704	0.28640	0.7728:0.1443:0.0829:0.0	.	606;606	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	P	606;606;33	ENSP00000224756:H606P;ENSP00000361160:H606P;ENSP00000439944:H33P	ENSP00000224756:H606P	H	+	2	0	FAM190B	86175578	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.625000	0.54238	1.090000	0.41315	0.528000	0.53228	CAC	FAM190B	-	NULL	ENSG00000107771		0.468	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	180	0.00	0	A	NM_018999		86185598	86185598	+1	no_errors	ENST00000372088	ensembl	human	known	69_37n	missense	94	21.67	26	SNP	0.998	C
CCSER2	54462	genome.wustl.edu	37	10	86185607	86185607	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:86185607A>C	ENST00000224756.8	+	5	2011	c.1826A>C	c.(1825-1827)cAc>cCc	p.H609P	CCSER2_ENST00000372088.2_Missense_Mutation_p.H609P|CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.H36P	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	609	His-rich.				microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CACCTCAGCCACCCTGACCAC	0.463																																						dbGAP											0													133.0	112.0	119.0					10																	86185607		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1826A>C	10.37:g.86185607A>C	ENSP00000224756:p.His609Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.H609P	ENST00000224756.8	37	c.1826	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	A	18.48	3.634015	0.67130	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.24723	2.18;2.15;1.84	5.95	5.95	0.96441	.	0.062767	0.64402	D	0.000006	T	0.44787	0.1310	L	0.51422	1.61	0.45239	D	0.998245	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.944	T	0.35798	-0.9774	10	0.72032	D	0.01	-24.3247	14.3729	0.66854	1.0:0.0:0.0:0.0	.	609;609	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	P	609;609;36	ENSP00000224756:H609P;ENSP00000361160:H609P;ENSP00000439944:H36P	ENSP00000224756:H609P	H	+	2	0	FAM190B	86175587	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.681000	0.61663	2.274000	0.75844	0.528000	0.53228	CAC	FAM190B	-	NULL	ENSG00000107771		0.463	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	180	0.00	0	A	NM_018999		86185607	86185607	+1	no_errors	ENST00000372088	ensembl	human	known	69_37n	missense	94	23.39	29	SNP	0.996	C
FAM193A	8603	genome.wustl.edu	37	4	2701825	2701825	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:2701825T>C	ENST00000324666.5	+	17	3404	c.3053T>C	c.(3052-3054)cTc>cCc	p.L1018P	FAM193A_ENST00000505311.1_Missense_Mutation_p.L1018P|FAM193A_ENST00000545951.1_Missense_Mutation_p.L1018P|FAM193A_ENST00000382839.3_Missense_Mutation_p.L1018P|FAM193A_ENST00000502458.1_Missense_Mutation_p.L1040P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1018										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAATTTCTCCTCCCCAAGGAG	0.547																																						dbGAP											0													79.0	82.0	81.0					4																	2701825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3053T>C	4.37:g.2701825T>C	ENSP00000324587:p.Leu1018Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.L1018P	ENST00000324666.5	37	c.3053	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372919	0.42105	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.34072	1.39;1.8;1.38;1.39;1.39	5.43	3.0	0.34707	.	0.466541	0.22516	N	0.059032	T	0.30262	0.0759	L	0.44542	1.39	0.18873	N	0.999983	B;B;D;B;B	0.59767	0.004;0.004;0.986;0.002;0.002	B;B;P;B;B	0.48030	0.005;0.005;0.564;0.005;0.005	T	0.11966	-1.0566	10	0.33940	T	0.23	-3.698	3.778	0.08668	0.1601:0.2468:0.0:0.5931	.	1018;1040;1018;1040;1018	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	P	1018;1018;1018;1040;872	ENSP00000372290:L1018P;ENSP00000324587:L1018P;ENSP00000443617:L1018P;ENSP00000427505:L1040P;ENSP00000427260:L872P	ENSP00000324587:L1018P	L	+	2	0	FAM193A	2671623	0.570000	0.26651	0.009000	0.14445	0.938000	0.57974	0.589000	0.23939	0.373000	0.24621	0.533000	0.62120	CTC	FAM193A	-	NULL	ENSG00000125386		0.547	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	228	0.87	2	T	NM_003704		2701825	2701825	+1	no_errors	ENST00000324666	ensembl	human	known	69_37n	missense	204	14.11	34	SNP	0.000	C
FAM208A	23272	genome.wustl.edu	37	3	56667531	56667531	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:56667531A>C	ENST00000493960.2	-	18	3298	c.3288T>G	c.(3286-3288)ggT>ggG	p.G1096G	FAM208A_ENST00000355628.5_Silent_p.G1035G|FAM208A_ENST00000431842.2_Silent_p.G659G	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1096							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GCAAATTCCCACCCTTGGCTG	0.413																																						dbGAP											0													88.0	89.0	89.0					3																	56667531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3288T>G	3.37:g.56667531A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	pfam_DUF3715	p.G1035	ENST00000493960.2	37	c.3105	CCDS46853.1	3																																																																																			FAM208A	-	NULL	ENSG00000163946		0.413	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	113	0.00	0	A	NM_015224		56667531	56667531	-1	no_errors	ENST00000355628	ensembl	human	known	69_37n	silent	114	15.56	21	SNP	0.001	C
FAM212B	55924	genome.wustl.edu	37	1	112270410	112270410	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:112270410A>C	ENST00000357260.5	-	2	255	c.74T>G	c.(73-75)gTg>gGg	p.V25G	FAM212B_ENST00000444059.2_Missense_Mutation_p.V10G|FAM212B_ENST00000534365.1_Missense_Mutation_p.V25G	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	25										cervix(1)|endometrium(1)	2						GCCATCACCCACCTCCTTCAT	0.567																																						dbGAP											0													102.0	93.0	96.0					1																	112270410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.74T>G	1.37:g.112270410A>C	ENSP00000349805:p.Val25Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	NULL	p.V25G	ENST00000357260.5	37	c.74	CCDS841.1	1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409231	0.25378	.	.	ENSG00000197852	ENST00000357260;ENST00000534365;ENST00000444059;ENST00000527621	.	.	.	5.12	5.12	0.69794	.	0.262557	0.36893	N	0.002341	T	0.53932	0.1827	L	0.58101	1.795	0.58432	D	0.999996	D;P	0.56287	0.975;0.952	P;P	0.51385	0.668;0.605	T	0.58393	-0.7644	9	0.48119	T	0.1	-23.4325	14.5672	0.68185	1.0:0.0:0.0:0.0	.	10;25	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	G	25;25;10;34	.	ENSP00000349805:V25G	V	-	2	0	C1orf183	112071933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.631000	0.74277	1.899000	0.54978	0.459000	0.35465	GTG	FAM212B	-	NULL	ENSG00000197852		0.567	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM212B	HGNC	protein_coding	OTTHUMT00000033060.2	197	0.51	1	A	NM_019099		112270410	112270410	-1	no_errors	ENST00000357260	ensembl	human	known	69_37n	missense	85	20.56	22	SNP	1.000	C
FAM217B	63939	genome.wustl.edu	37	20	58519948	58519948	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:58519948T>G	ENST00000358293.3	+	5	1365	c.950T>G	c.(949-951)gTg>gGg	p.V317G	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.V317G	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	317																	AGCTCTAAGGTGGAAACCAGC	0.488																																						dbGAP											0													60.0	62.0	61.0					20																	58519948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.950T>G	20.37:g.58519948T>G	ENSP00000351040:p.Val317Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.V317G	ENST00000358293.3	37	c.950	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009677	0.54361	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.24538	1.85;1.85	5.25	2.85	0.33270	.	1.682800	0.03308	N	0.190078	T	0.19087	0.0458	N	0.14661	0.345	0.09310	N	1	B	0.29037	0.231	B	0.29942	0.109	T	0.29458	-1.0011	10	0.72032	D	0.01	0.0839	7.5639	0.27868	0.0:0.0742:0.1418:0.784	.	317	Q9NTX9	CT177_HUMAN	G	317	ENSP00000351040:V317G;ENSP00000354056:V317G	ENSP00000351040:V317G	V	+	2	0	C20orf177	57953343	0.913000	0.31002	0.001000	0.08648	0.435000	0.31806	3.625000	0.54238	0.838000	0.34948	0.482000	0.46254	GTG	FAM217B	-	NULL	ENSG00000196227		0.488	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	97	0.00	0	T	NM_022106		58519948	58519948	+1	no_errors	ENST00000358293	ensembl	human	known	69_37n	missense	71	19.78	18	SNP	0.002	G
FAM219A	203259	genome.wustl.edu	37	9	34402310	34402310	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:34402310T>G	ENST00000445726.1	-	4	651				FAM219A_ENST00000379084.1_Intron|FAM219A_ENST00000379081.1_Intron|FAM219A_ENST00000379080.1_Intron|FAM219A_ENST00000379089.1_Intron|FAM219A_ENST00000379087.1_Intron|FAM219A_ENST00000297620.4_Intron|FAM219A_ENST00000379078.1_Missense_Mutation_p.H139P	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A																		ATATAGCAGGTGTGGCCTGTA	0.527																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.344+74A>C	9.37:g.34402310T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	NULL	p.H139P	ENST00000445726.1	37	c.416	CCDS55304.1	9	.	.	.	.	.	.	.	.	.	.	T	2.771	-0.255609	0.05829	.	.	ENSG00000164970	ENST00000379078	.	.	.	4.22	0.481	0.16809	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36311	-0.9753	5	0.87932	D	0	.	3.5094	0.07703	0.0:0.217:0.2:0.583	.	.	.	.	P	139	.	ENSP00000368369:H139P	H	-	2	0	C9orf25	34392310	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.053000	0.11846	-0.011000	0.14247	0.459000	0.35465	CAC	FAM219A	-	NULL	ENSG00000164970		0.527	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM219A	HGNC	protein_coding		64	0.00	0	T	NM_001184940		34402310	34402310	-1	no_errors	ENST00000379078	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	0.000	G
FAM24B	196792	genome.wustl.edu	37	10	124608796	124608796	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:124608796T>G	ENST00000368898.3	-	4	542	c.252A>C	c.(250-252)ccA>ccC	p.P84P	FAM24B_ENST00000368896.1_Silent_p.P84P|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000545804.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	84						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		AACAGCAAGGTGGCAGGGAAT	0.463																																						dbGAP											0													130.0	108.0	115.0					10																	124608796		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.252A>C	10.37:g.124608796T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPG1	Silent	SNP	NULL	p.P84	ENST00000368898.3	37	c.252	CCDS31303.1	10																																																																																			FAM24B	-	NULL	ENSG00000213185		0.463	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM24B	HGNC	protein_coding	OTTHUMT00000050825.1	203	0.00	0	T	NM_152644		124608796	124608796	-1	no_errors	ENST00000368896	ensembl	human	known	69_37n	silent	164	14.51	28	SNP	0.892	G
STRIP2	57464	genome.wustl.edu	37	7	129094332	129094332	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:129094332T>G	ENST00000249344.2	+	7	710	c.670T>G	c.(670-672)Tgg>Ggg	p.W224G	STRIP2_ENST00000435494.2_Missense_Mutation_p.W224G	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	224					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CCCCTGTGGGTGGAGAACAGC	0.527																																						dbGAP											0													99.0	91.0	94.0					7																	129094332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.670T>G	7.37:g.129094332T>G	ENSP00000249344:p.Trp224Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUZ4	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.W224G	ENST00000249344.2	37	c.670	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504991	0.64410	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.192701	0.48767	D	0.000161	T	0.63640	0.2528	M	0.78637	2.42	0.80722	D	1	D;P	0.69078	0.997;0.713	D;P	0.81914	0.995;0.513	T	0.62666	-0.6806	10	0.29301	T	0.29	-3.3694	13.9212	0.63933	0.0:0.0:0.0:1.0	.	224;224	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	G	224	ENSP00000249344:W224G;ENSP00000392393:W224G	ENSP00000249344:W224G	W	+	1	0	FAM40B	128881568	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.673000	0.83973	2.185000	0.69588	0.459000	0.35465	TGG	FAM40B	-	pfam_N1221	ENSG00000128578		0.527	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40B	HGNC	protein_coding	OTTHUMT00000349418.1	45	0.00	0	T	NM_001134336		129094332	129094332	+1	no_errors	ENST00000249344	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	G
FAM47C	442444	genome.wustl.edu	37	X	37027247	37027247	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:37027247T>G	ENST00000358047.3	+	1	816	c.764T>G	c.(763-765)gTg>gGg	p.V255G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	255										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGACTCAGGTGTCCAGTCTC	0.627																																						dbGAP											0													56.0	52.0	53.0					X																	37027247		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.764T>G	X.37:g.37027247T>G	ENSP00000367913:p.Val255Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.V255G	ENST00000358047.3	37	c.764	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344882	0.24426	.	.	ENSG00000198173	ENST00000358047	T	0.20738	2.05	0.959	0.959	0.19624	.	.	.	.	.	T	0.14700	0.0355	M	0.61703	1.905	0.22050	N	0.9994	P	0.41041	0.736	B	0.28784	0.094	T	0.18429	-1.0337	9	0.23891	T	0.37	.	5.9888	0.19450	0.0:1.0E-4:0.0:0.9999	.	255	Q5HY64	FA47C_HUMAN	G	255	ENSP00000367913:V255G	ENSP00000367913:V255G	V	+	2	0	FAM47C	36937168	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	-1.237000	0.02922	0.223000	0.20920	0.220000	0.17776	GTG	FAM47C	-	NULL	ENSG00000198173		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	305	0.65	2	T	NM_001013736		37027247	37027247	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	missense	275	10.03	31	SNP	0.280	G
FAM65A	79567	genome.wustl.edu	37	16	67573656	67573656	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67573656T>G	ENST00000379312.3	+	5	493		c.e5+2		FAM65A_ENST00000428437.2_Splice_Site|FAM65A_ENST00000042381.4_Splice_Site|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000566522.1_Splice_Site|FAM65A_ENST00000422602.2_Splice_Site|FAM65A_ENST00000540839.3_Splice_Site|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTGGACAAGGTGAGTATGCAT	0.582																																						dbGAP											0													183.0	169.0	174.0					16																	67573656		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.372+2T>G	16.37:g.67573656T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Splice_Site	SNP	-	e5+2	ENST00000379312.3	37	c.420+2	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269108	0.59540	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839;ENST00000428437	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1546	0.48480	0.0:0.0:0.1656:0.8344	.	.	.	.	.	-1	.	.	.	+	.	.	FAM65A	66131157	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.301000	0.59086	2.019000	0.59389	0.397000	0.26171	.	FAM65A	-	-	ENSG00000039523		0.582	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	340	0.29	1	T	NM_024519	Intron	67573656	67573656	+1	no_errors	ENST00000422602	ensembl	human	known	69_37n	splice_site	148	12.79	22	SNP	1.000	G
FAM65A	79567	genome.wustl.edu	37	16	67575334	67575334	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67575334T>G	ENST00000379312.3	+	11	936	c.815T>G	c.(814-816)gTg>gGg	p.V272G	FAM65A_ENST00000428437.2_Splice_Site_p.V282G|FAM65A_ENST00000042381.4_Splice_Site_p.V268G|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Splice_Site_p.V288G|FAM65A_ENST00000540839.3_Splice_Site_p.V288G|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	272						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCTACAGGTGACAGAACTG	0.527																																						dbGAP											0													262.0	246.0	251.0					16																	67575334		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.814-1T>G	16.37:g.67575334T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.V288G	ENST00000379312.3	37	c.863	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277828	0.80692	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.03035	4.07;4.07;4.07	4.86	4.86	0.63082	.	0.122316	0.53938	D	0.000042	T	0.19167	0.0460	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.00593	-1.1654	10	0.87932	D	0	-13.0395	14.4606	0.67445	0.0:0.0:0.0:1.0	.	282;288;272;288	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	G	272;268;288;282	ENSP00000368614:V272G;ENSP00000042381:V268G;ENSP00000400099:V288G	ENSP00000042381:V268G	V	+	2	0	FAM65A	66132835	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.684000	0.84104	1.827000	0.53221	0.459000	0.35465	GTG	FAM65A	-	NULL	ENSG00000039523		0.527	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	479	0.62	3	T	NM_024519	Missense_Mutation	67575334	67575334	+1	no_errors	ENST00000422602	ensembl	human	known	69_37n	missense	244	12.81	36	SNP	1.000	G
FAM65A	79567	genome.wustl.edu	37	16	67575397	67575397	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67575397A>C	ENST00000379312.3	+	11	999	c.878A>C	c.(877-879)gAc>gCc	p.D293A	FAM65A_ENST00000428437.2_Missense_Mutation_p.D303A|FAM65A_ENST00000042381.4_Missense_Mutation_p.D289A|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.D309A|FAM65A_ENST00000540839.3_Missense_Mutation_p.D309A|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	293						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAGACCAAGGACCTGTTTGCC	0.567																																						dbGAP											0													198.0	175.0	183.0					16																	67575397		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.878A>C	16.37:g.67575397A>C	ENSP00000368614:p.Asp293Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.D309A	ENST00000379312.3	37	c.926	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269709	0.80469	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.02121	4.44;4.44;4.44	4.86	4.86	0.63082	.	0.047074	0.85682	N	0.000000	T	0.12135	0.0295	M	0.79123	2.44	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70016	0.967;0.967;0.967;0.911	T	0.00420	-1.1750	10	0.72032	D	0.01	-17.0687	14.4606	0.67445	1.0:0.0:0.0:0.0	.	303;309;293;309	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	A	293;289;309;303	ENSP00000368614:D293A;ENSP00000042381:D289A;ENSP00000400099:D309A	ENSP00000042381:D289A	D	+	2	0	FAM65A	66132898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.946000	0.92992	1.827000	0.53221	0.459000	0.35465	GAC	FAM65A	-	NULL	ENSG00000039523		0.567	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	334	0.60	2	A	NM_024519		67575397	67575397	+1	no_errors	ENST00000422602	ensembl	human	known	69_37n	missense	176	10.61	21	SNP	1.000	C
FAM65A	79567	genome.wustl.edu	37	16	67576866	67576866	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67576866A>C	ENST00000379312.3	+	13	2310	c.2189A>C	c.(2188-2190)cAc>cCc	p.H730P	FAM65A_ENST00000428437.2_Missense_Mutation_p.H740P|FAM65A_ENST00000042381.4_Missense_Mutation_p.H726P|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.H746P|FAM65A_ENST00000540839.3_Missense_Mutation_p.H746P|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	730	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGAACTCCCCACCCAAGTCCT	0.607																																						dbGAP											0													132.0	149.0	143.0					16																	67576866		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2189A>C	16.37:g.67576866A>C	ENSP00000368614:p.His730Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.H746P	ENST00000379312.3	37	c.2237	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	A	10.70	1.422777	0.25639	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.13901	2.55;2.55;2.55	5.52	-2.19	0.07015	.	2.131500	0.01382	N	0.012955	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.28971	0.104;0.104;0.104;0.229	B;B;B;B	0.23018	0.013;0.013;0.013;0.043	T	0.17198	-1.0377	10	0.22706	T	0.39	0.4482	0.8153	0.01101	0.2951:0.3138:0.1129:0.2781	.	740;746;730;746	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	P	730;726;746;740	ENSP00000368614:H730P;ENSP00000042381:H726P;ENSP00000400099:H746P	ENSP00000042381:H726P	H	+	2	0	FAM65A	66134367	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	1.029000	0.30140	-0.288000	0.09051	0.454000	0.30748	CAC	FAM65A	-	NULL	ENSG00000039523		0.607	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	290	0.68	2	A	NM_024519		67576866	67576866	+1	no_errors	ENST00000422602	ensembl	human	known	69_37n	missense	89	28.91	37	SNP	0.000	C
FAM65C	140876	genome.wustl.edu	37	20	49221281	49221281	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:49221281T>G	ENST00000327979.2	-	12	1386	c.975A>C	c.(973-975)tcA>tcC	p.S325S	FAM65C_ENST00000045083.2_Silent_p.S325S|FAM65C_ENST00000535356.1_Silent_p.S329S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	325										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGCTGGGTGACACCAGGA	0.602																																						dbGAP											0													44.0	43.0	43.0					20																	49221281		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.975A>C	20.37:g.49221281T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.S329	ENST00000327979.2	37	c.987	CCDS13431.2	20																																																																																			FAM65C	-	NULL	ENSG00000042062		0.602	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	19	0.00	0	T			49221281	49221281	-1	no_errors	ENST00000535356	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	0.183	G
FAM71A	149647	genome.wustl.edu	37	1	212798747	212798747	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:212798747A>C	ENST00000294829.3	+	1	959	c.528A>C	c.(526-528)ccA>ccC	p.P176P	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	176						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCTTGCGGCCACCCATGGAGA	0.522																																						dbGAP											0													108.0	113.0	112.0					1																	212798747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.528A>C	1.37:g.212798747A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTZ1	Silent	SNP	pfam_DUF3699	p.P176	ENST00000294829.3	37	c.528	CCDS1507.1	1																																																																																			FAM71A	-	pfam_DUF3699	ENSG00000162771		0.522	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	193	0.00	0	A	NM_153606		212798747	212798747	+1	no_errors	ENST00000294829	ensembl	human	known	69_37n	silent	265	11.37	34	SNP	0.050	C
SPATA31A6	389730	genome.wustl.edu	37	9	43627223	43627223	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:43627223T>G	ENST00000332857.6	-	4	1492	c.1464A>C	c.(1462-1464)acA>acC	p.T488T	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	488					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGCCATAGGTGTGGGCAGGA	0.537																																						dbGAP											0													75.0	85.0	82.0					9																	43627223		614	1533	2147	-	-	-	SO:0001819	synonymous_variant	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1464A>C	9.37:g.43627223T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T488	ENST00000332857.6	37	c.1464	CCDS47973.1	9																																																																																			FAM75A6	-	NULL	ENSG00000185775		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A6	HGNC	protein_coding	OTTHUMT00000036987.1	609	0.49	3	T	NM_001145196		43627223	43627223	-1	no_errors	ENST00000332857	ensembl	human	known	69_37n	silent	332	11.84	45	SNP	0.003	G
SPATA31D1	389763	genome.wustl.edu	37	9	84606434	84606434	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:84606434A>C	ENST00000344803.2	+	4	1096	c.1049A>C	c.(1048-1050)cAc>cCc	p.H350P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	350					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACCATTCACACCTTGCATCT	0.468																																						dbGAP											0													154.0	141.0	145.0					9																	84606434		1938	4138	6076	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1049A>C	9.37:g.84606434A>C	ENSP00000341988:p.His350Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H350P	ENST00000344803.2	37	c.1049	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	2.153	-0.394060	0.04899	.	.	ENSG00000214929	ENST00000344803	T	0.04809	3.55	2.87	0.998	0.19857	.	2.424910	0.01798	N	0.032747	T	0.03871	0.0109	N	0.14661	0.345	0.09310	N	1	B	0.22983	0.078	B	0.20184	0.028	T	0.37957	-0.9683	10	0.42905	T	0.14	5.6082	5.1258	0.14884	0.2881:0.0:0.7119:0.0	.	350	Q6ZQQ2	F75D1_HUMAN	P	350	ENSP00000341988:H350P	ENSP00000341988:H350P	H	+	2	0	FAM75D1	83796254	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	0.286000	0.22352	-0.145000	0.13849	CAC	FAM75D1	-	NULL	ENSG00000214929		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	376	0.53	2	A	NM_001001670		84606434	84606434	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	304	13.11	46	SNP	0.000	C
SPATA31D5P	347127	genome.wustl.edu	37	9	84530527	84530527	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:84530527A>C	ENST00000527857.1	+	0	549					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TCTGGCTTCCACCCCCTCAGC	0.532																																						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.84530527A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.532	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	205	0.97	2	A	NR_026851		84530527	84530527	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	185	11.85	25	SNP	0.000	C
SPATA31D1	389763	genome.wustl.edu	37	9	84608547	84608547	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:84608547A>C	ENST00000344803.2	+	4	3209	c.3162A>C	c.(3160-3162)tcA>tcC	p.S1054S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1054					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTGTCACTTCACCTGTCAACC	0.443																																						dbGAP											0													121.0	125.0	124.0					9																	84608547		1859	4100	5959	-	-	-	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3162A>C	9.37:g.84608547A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S1054	ENST00000344803.2	37	c.3162	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	357	0.55	2	A	NM_001001670		84608547	84608547	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	silent	233	13.70	37	SNP	0.002	C
SPATA31E1	286234	genome.wustl.edu	37	9	90500950	90500950	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:90500950A>C	ENST00000325643.5	+	4	1614	c.1548A>C	c.(1546-1548)ccA>ccC	p.P516P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	516					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											cccagcccccacctttggctg	0.647																																						dbGAP											0													36.0	39.0	38.0					9																	90500950		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1548A>C	9.37:g.90500950A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.P516	ENST00000325643.5	37	c.1548	CCDS6676.1	9																																																																																			FAM75E1	-	NULL	ENSG00000177992		0.647	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75E1	HGNC	protein_coding	OTTHUMT00000052954.2	123	0.80	1	A	NM_178828		90500950	90500950	+1	no_errors	ENST00000325643	ensembl	human	known	69_37n	silent	50	24.64	17	SNP	0.000	C
RMDN1	51115	genome.wustl.edu	37	8	87517285	87517285	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:87517285A>C	ENST00000406452.3	-	2	407				RMDN1_ENST00000430676.2_Intron|RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000518772.1_5'UTR|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1							microtubule (GO:0005874)|mitochondrion (GO:0005739)											GGAGACCACCACCAATGTCTA	0.527																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.247+1938T>G	8.37:g.87517285A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	RNA	SNP	-	NULL	ENST00000406452.3	37	NULL	CCDS34918.1	8																																																																																			FAM82B	-	-	ENSG00000176623		0.527	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82B	HGNC	protein_coding	OTTHUMT00000374770.2	122	0.00	0	A	NM_016033		87517285	87517285	-1	no_errors	ENST00000518772	ensembl	human	putative	69_37n	rna	96	19.83	24	SNP	0.772	C
FAM83B	222584	genome.wustl.edu	37	6	54805005	54805005	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:54805005A>C	ENST00000306858.7	+	5	1352	c.1236A>C	c.(1234-1236)ccA>ccC	p.P412P	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	412										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCAATAATCCACCTGGTAATT	0.458																																						dbGAP											0													76.0	79.0	78.0					6																	54805005		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1236A>C	6.37:g.54805005A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Silent	SNP	pfam_DUF1669	p.P412	ENST00000306858.7	37	c.1236	CCDS34479.1	6																																																																																			FAM83B	-	NULL	ENSG00000168143		0.458	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	182	0.00	0	A	XM_294139		54805005	54805005	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	silent	177	10.45	21	SNP	0.012	C
FAM86C1	55199	genome.wustl.edu	37	11	71507229	71507229	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:71507229A>C	ENST00000359244.4	+	4	434				FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						CCCCACGCCCACCCGGGCCTG	0.622																																						dbGAP											0													87.0	99.0	95.0					11																	71507229		2200	4293	6493	-	-	-	SO:0001627	intron_variant	0			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+17A>C	11.37:g.71507229A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5D3	Missense_Mutation	SNP	NULL	p.H109P	ENST00000359244.4	37	c.326	CCDS41686.1	11	.	.	.	.	.	.	.	.	.	.	.	0.028	-1.352121	0.01256	.	.	ENSG00000158483	ENST00000528685	T	0.19669	2.13	0.803	-0.62	0.11567	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32693	-0.9897	5	.	.	.	.	3.1771	0.06572	0.6367:0.0:0.0:0.3633	.	.	.	.	P	109	ENSP00000436598:H109P	.	H	+	2	0	FAM86C1	71184877	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-2.583000	0.00904	-0.629000	0.05575	-1.496000	0.00964	CAC	FAM86C1	-	NULL	ENSG00000158483		0.622	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM86C1	HGNC	protein_coding	OTTHUMT00000361120.1	60	0.00	0	A	NM_152563		71507229	71507229	+1	no_errors	ENST00000528685	ensembl	human	putative	69_37n	missense	48	28.99	20	SNP	0.003	C
FANCC	2176	genome.wustl.edu	37	9	97873816	97873816	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:97873816T>G	ENST00000289081.3	-	13	1512	c.1258A>C	c.(1258-1260)Acg>Ccg	p.T420P	RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000464653.1_5'Flank|FANCC_ENST00000375305.1_Missense_Mutation_p.T420P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	420					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AGCAGGGCCGTGGGGGGTTCG	0.597			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													81.0	82.0	81.0					9																	97873816		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1258A>C	9.37:g.97873816T>G	ENSP00000289081:p.Thr420Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALR8	Missense_Mutation	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.T420P	ENST00000289081.3	37	c.1258	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	T	7.887	0.731571	0.15507	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.50001	0.76;0.76	6.06	4.24	0.50183	.	0.544558	0.21191	N	0.078644	T	0.30008	0.0751	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.23150	0.044	T	0.24548	-1.0157	10	0.49607	T	0.09	-0.0179	12.7965	0.57562	0.0:0.8674:0.0:0.1326	.	420	Q00597	FANCC_HUMAN	P	420	ENSP00000289081:T420P;ENSP00000364454:T420P	ENSP00000289081:T420P	T	-	1	0	FANCC	96913637	0.016000	0.18221	0.001000	0.08648	0.007000	0.05969	2.142000	0.42177	0.913000	0.36797	-0.766000	0.03442	ACG	FANCC	-	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	ENSG00000158169		0.597	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	48	0.00	0	T	NM_000136		97873816	97873816	-1	no_errors	ENST00000289081	ensembl	human	known	69_37n	missense	26	28.21	11	SNP	0.007	G
FANCE	2178	genome.wustl.edu	37	6	35426160	35426160	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:35426160A>C	ENST00000229769.2	+	5	1241	c.1056A>C	c.(1054-1056)tcA>tcC	p.S352S		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	352	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						TGGCCCTTTCACCTGATCTCA	0.577			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""Fanconi anemia, complementation group E"""		L	0													169.0	159.0	162.0					6																	35426160		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.1056A>C	6.37:g.35426160A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K907|Q4ZGH2	Silent	SNP	pfam_Fanconi_anaemia_gr_E_prot_C	p.S352	ENST00000229769.2	37	c.1056	CCDS4805.1	6																																																																																			FANCE	-	pfam_Fanconi_anaemia_gr_E_prot_C	ENSG00000112039		0.577	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCE	HGNC	protein_coding	OTTHUMT00000040282.1	164	0.00	0	A			35426160	35426160	+1	no_errors	ENST00000229769	ensembl	human	known	69_37n	silent	167	16.42	33	SNP	0.300	C
FAP	2191	genome.wustl.edu	37	2	163044750	163044750	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:163044750A>C	ENST00000188790.4	-	20	1950	c.1743T>G	c.(1741-1743)ggT>ggG	p.G581G	FAP_ENST00000443424.1_Silent_p.G556G	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GGAGTTTGTCACCTTGGAAAG	0.443																																						dbGAP											0													169.0	152.0	157.0					2																	163044750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1743T>G	2.37:g.163044750A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.G581	ENST00000188790.4	37	c.1743	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9	ENSG00000078098		0.443	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	244	0.41	1	A			163044750	163044750	-1	no_errors	ENST00000188790	ensembl	human	known	69_37n	silent	134	16.15	26	SNP	0.999	C
FAT1	2195	genome.wustl.edu	37	4	187541453	187541453	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:187541453A>C	ENST00000441802.2	-	10	6496	c.6287T>G	c.(6286-6288)gTg>gGg	p.V2096G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2096	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACATGGCCCACCTCAGTGTC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													172.0	164.0	167.0					4																	187541453		1983	4163	6146	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6287T>G	4.37:g.187541453A>C	ENSP00000406229:p.Val2096Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V2096G	ENST00000441802.2	37	c.6287	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	A	3.452	-0.111749	0.06881	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02103	4.45	5.1	2.6	0.31112	Cadherin (3);Cadherin-like (1);	0.182611	0.46758	D	0.000267	T	0.04272	0.0118	M	0.64260	1.97	0.80722	D	1	B	0.34241	0.444	P	0.45577	0.486	T	0.50294	-0.8845	10	0.22109	T	0.4	.	4.0624	0.09844	0.5976:0.0:0.1446:0.2577	.	2096	Q14517	FAT1_HUMAN	G	2096;2098	ENSP00000406229:V2096G	ENSP00000260147:V2098G	V	-	2	0	FAT1	187778447	0.981000	0.34729	0.995000	0.50966	0.050000	0.14768	1.073000	0.30691	0.384000	0.24942	-0.400000	0.06385	GTG	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000083857		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	248	0.40	1	A	NM_005245		187541453	187541453	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	173	12.50	25	SNP	0.999	C
FAT1	2195	genome.wustl.edu	37	4	187629077	187629077	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:187629077A>C	ENST00000441802.2	-	2	2114	c.1905T>G	c.(1903-1905)ggT>ggG	p.G635G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	635	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACACCTTTGCACCTAAGCCAT	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													89.0	83.0	85.0					4																	187629077		1883	4100	5983	-	-	-	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1905T>G	4.37:g.187629077A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.G635	ENST00000441802.2	37	c.1905	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	69	0.00	0	A	NM_005245		187629077	187629077	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	silent	83	18.63	19	SNP	0.457	C
FAT2	2196	genome.wustl.edu	37	5	150901505	150901505	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150901505A>C	ENST00000261800.5	-	18	10661	c.10649T>G	c.(10648-10650)gTg>gGg	p.V3550G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3550	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCTTACCCACCATGCCACC	0.582																																						dbGAP											0													93.0	83.0	87.0					5																	150901505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10649T>G	5.37:g.150901505A>C	ENSP00000261800:p.Val3550Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3550G	ENST00000261800.5	37	c.10649	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635363	0.87760	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.38	5.38	0.77491	Cadherin (2);Cadherin-like (1);	0.234990	0.29579	N	0.011759	T	0.58119	0.2100	M	0.63843	1.955	0.80722	D	1	D;D	0.56746	0.977;0.964	P;P	0.52267	0.634;0.694	T	0.63550	-0.6612	10	0.87932	D	0	.	15.6903	0.77446	1.0:0.0:0.0:0.0	.	3550;741	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	G	3550	ENSP00000261800:V3550G	ENSP00000261800:V3550G	V	-	2	0	FAT2	150881698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.210000	0.95106	2.163000	0.67991	0.460000	0.39030	GTG	FAT2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	45	0.00	0	A	NM_001447		150901505	150901505	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150923189	150923189	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150923189A>C	ENST00000261800.5	-	9	7511	c.7499T>G	c.(7498-7500)gTg>gGg	p.V2500G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2500	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAATCAATCACCTTGGTTCC	0.418																																						dbGAP											0													92.0	97.0	95.0					5																	150923189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7499T>G	5.37:g.150923189A>C	ENSP00000261800:p.Val2500Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2500G	ENST00000261800.5	37	c.7499	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964444	0.53507	.	.	ENSG00000086570	ENST00000261800	T	0.59772	0.24	5.7	4.52	0.55395	Cadherin (3);Cadherin-like (1);	0.000000	0.56097	D	0.000022	D	0.83050	0.5170	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87394	0.2365	10	0.72032	D	0.01	.	12.9304	0.58284	0.8644:0.1356:0.0:0.0	.	2500	Q9NYQ8	FAT2_HUMAN	G	2500	ENSP00000261800:V2500G	ENSP00000261800:V2500G	V	-	2	0	FAT2	150903382	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	9.262000	0.95591	0.970000	0.38263	0.379000	0.24179	GTG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.418	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	227	0.00	0	A	NM_001447		150923189	150923189	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	174	15.79	33	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150924613	150924613	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150924613A>C	ENST00000261800.5	-	9	6087	c.6075T>G	c.(6073-6075)ggT>ggG	p.G2025G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2025	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACGCCACACCTCTTGTCT	0.522																																						dbGAP											0													106.0	106.0	106.0					5																	150924613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6075T>G	5.37:g.150924613A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G2025	ENST00000261800.5	37	c.6075	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	229	0.86	2	A	NM_001447		150924613	150924613	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	silent	211	12.81	31	SNP	0.294	C
FAT3	120114	genome.wustl.edu	37	11	92495071	92495071	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:92495071T>G	ENST00000298047.6	+	4	3736	c.3719T>G	c.(3718-3720)gTg>gGg	p.V1240G	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.V1240G|FAT3_ENST00000525166.1_Missense_Mutation_p.V1090G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1240	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCATTTGGGTGGTGGTTCAG	0.448										TCGA Ovarian(4;0.039)																												dbGAP											0													192.0	184.0	187.0					11																	92495071		1906	4120	6026	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3719T>G	11.37:g.92495071T>G	ENSP00000298047:p.Val1240Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V1240G	ENST00000298047.6	37	c.3719		11	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444685	0.83993	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.68765	-0.35;-0.35;-0.35	5.44	5.44	0.79542	.	.	.	.	.	D	0.88134	0.6355	H	0.98295	4.195	0.80722	D	1	D	0.65815	0.995	D	0.63793	0.918	D	0.92770	0.6231	9	0.87932	D	0	.	15.4965	0.75658	0.0:0.0:0.0:1.0	.	1240	Q8TDW7-3	.	G	1240;1240;1090	ENSP00000298047:V1240G;ENSP00000387040:V1240G;ENSP00000432586:V1090G	ENSP00000298047:V1240G	V	+	2	0	FAT3	92134719	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.975000	0.88055	2.047000	0.60756	0.460000	0.39030	GTG	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.448	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		783	0.00	0	T	NM_001008781		92495071	92495071	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	518	11.58	68	SNP	1.000	G
FAT4	79633	genome.wustl.edu	37	4	126370103	126370103	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:126370103T>G	ENST00000394329.3	+	9	7945	c.7932T>G	c.(7930-7932)ggT>ggG	p.G2644G	FAT4_ENST00000335110.5_Silent_p.G942G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2644	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ccagagacggtggtttccctc	0.373																																						dbGAP											0													49.0	51.0	50.0					4																	126370103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7932T>G	4.37:g.126370103T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G2644	ENST00000394329.3	37	c.7932	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	110	0.00	0	T	NM_024582		126370103	126370103	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	silent	70	31.37	32	SNP	0.001	G
FAT4	79633	genome.wustl.edu	37	4	126412028	126412028	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:126412028C>T	ENST00000394329.3	+	17	14064	c.14051C>T	c.(14050-14052)aCc>aTc	p.T4684I	FAT4_ENST00000335110.5_Missense_Mutation_p.T2925I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4684					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTTGAGAACCAGCTCCCTA	0.522																																						dbGAP											0													120.0	125.0	124.0					4																	126412028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14051C>T	4.37:g.126412028C>T	ENSP00000377862:p.Thr4684Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T4684I	ENST00000394329.3	37	c.14051	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036885	0.19669	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76060	-0.83;-0.99	4.46	3.6	0.41247	.	0.220358	0.21567	U	0.072479	T	0.62048	0.2396	N	0.22421	0.69	0.40969	D	0.984686	B;B;B	0.22983	0.078;0.019;0.078	B;B;B	0.24701	0.055;0.025;0.055	T	0.59279	-0.7484	10	0.41790	T	0.15	.	13.4479	0.61151	0.0:0.8419:0.1581:0.0	.	2925;4684;4683	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	4684;2925	ENSP00000377862:T4684I;ENSP00000335169:T2925I	ENSP00000335169:T2925I	T	+	2	0	FAT4	126631478	1.000000	0.71417	0.970000	0.41538	0.496000	0.33645	4.494000	0.60347	1.054000	0.40438	0.561000	0.74099	ACC	FAT4	-	NULL	ENSG00000196159		0.522	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	237	0.00	0	C	NM_024582		126412028	126412028	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	153	21.03	41	SNP	1.000	T
FAXC	84553	genome.wustl.edu	37	6	99729204	99729204	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:99729204T>G	ENST00000389677.5	-	6	1348	c.1066A>C	c.(1066-1068)Acc>Ccc	p.T356P	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.T76P	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	356						integral component of membrane (GO:0016021)											AGCAGCGGGGTGTGGGTTTTG	0.478																																						dbGAP											0													105.0	102.0	103.0					6																	99729204		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1066A>C	6.37:g.99729204T>G	ENSP00000374328:p.Thr356Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.T356P	ENST00000389677.5	37	c.1066	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355409	0.24512	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.29	5.29	0.74685	.	0.501584	0.21607	N	0.071860	T	0.20577	0.0495	N	0.22421	0.69	0.35918	D	0.831573	B	0.02656	0.0	B	0.06405	0.002	T	0.10520	-1.0626	9	0.48119	T	0.1	-26.0278	7.5778	0.27946	0.1452:0.0:0.1339:0.7209	.	356	Q5TGI0	CF168_HUMAN	P	356;76	.	ENSP00000374328:T356P	T	-	1	0	C6orf168	99835925	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	3.242000	0.51384	1.991000	0.58162	0.533000	0.62120	ACC	FAXC	-	NULL	ENSG00000146267		0.478	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4	207	0.96	2	T	NM_032511		99729204	99729204	-1	no_errors	ENST00000389677	ensembl	human	known	69_37n	missense	127	17.31	27	SNP	0.883	G
FBL	2091	genome.wustl.edu	37	19	40331154	40331154	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:40331154A>C	ENST00000221801.3	-	3	296	c.183T>G	c.(181-183)ggT>ggG	p.G61G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	61	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GGAAGCCTCCACCTATAAAGG	0.567																																						dbGAP											0													161.0	145.0	151.0					19																	40331154		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.182-1T>G	19.37:g.40331154A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.G61	ENST00000221801.3	37	c.183	CCDS12545.1	19																																																																																			FBL	-	pirsf_Fibrillarin	ENSG00000105202		0.567	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4	457	0.43	2	A	NM_001436	Silent	40331154	40331154	-1	no_errors	ENST00000221801	ensembl	human	known	69_37n	silent	504	11.52	66	SNP	0.890	C
FBN1	2200	genome.wustl.edu	37	15	48707867	48707867	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:48707867A>C	ENST00000316623.5	-	64	8372	c.7917T>G	c.(7915-7917)taT>taG	p.Y2639*	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2639	EGF-like 46; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGAACTGTTCATACTGGAAGC	0.567																																						dbGAP											0													106.0	96.0	100.0					15																	48707867		2198	4296	6494	-	-	-	SO:0001587	stop_gained	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7917T>G	15.37:g.48707867A>C	ENSP00000325527:p.Tyr2639*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.Y2639*	ENST00000316623.5	37	c.7917	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	A	51	17.360951	0.99884	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.81	-7.68	0.01268	.	0.237121	0.44483	D	0.000451	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	17.6471	0.88151	0.7878:0.0:0.2122:0.0	.	.	.	.	X	2639	.	ENSP00000325527:Y2639X	Y	-	3	2	FBN1	46495159	0.938000	0.31826	0.520000	0.27837	0.959000	0.62525	0.138000	0.16016	-1.585000	0.01634	-0.899000	0.02877	TAT	FBN1	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.567	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	134	0.00	0	A			48707867	48707867	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	nonsense	102	22.14	29	SNP	0.399	C
FBN3	84467	genome.wustl.edu	37	19	8156389	8156389	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:8156389T>G	ENST00000600128.1	-	48	6405	c.5991A>C	c.(5989-5991)ccA>ccC	p.P1997P	FBN3_ENST00000270509.2_Silent_p.P1997P|FBN3_ENST00000601739.1_Silent_p.P1997P			Q75N90	FBN3_HUMAN	fibrillin 3	1997	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAAAGCCAGGTGGGCAGAGGC	0.592																																						dbGAP											0													116.0	102.0	107.0					19																	8156389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5991A>C	19.37:g.8156389T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.P1997	ENST00000600128.1	37	c.5991	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	T	8.050	0.765712	0.15983	.	.	ENSG00000142449	ENST00000341066	.	.	.	4.45	-3.72	0.04411	.	.	.	.	.	T	0.40719	0.1128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30387	-0.9980	4	.	.	.	.	3.0275	0.06096	0.1046:0.37:0.2346:0.2907	.	.	.	.	P	117	.	.	H	-	2	0	FBN3	8062389	0.000000	0.05858	0.760000	0.31359	0.795000	0.44927	-2.416000	0.01035	-1.498000	0.01824	-1.510000	0.00946	CAC	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	110	0.00	0	T	NM_032447		8156389	8156389	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	silent	128	15.13	23	SNP	0.842	G
FBXL2	25827	genome.wustl.edu	37	3	33420262	33420262	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:33420262A>C	ENST00000446237.3	+	14	1134	c.110A>C	c.(109-111)cAc>cCc	p.H37P	FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000484457.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_Intron					F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GACATTATTCACCTGTTAAAG	0.418																																						dbGAP											0													137.0	117.0	124.0					3																	33420262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000446237.3:c.110A>C	3.37:g.33420262A>C	ENSP00000389251:p.His37Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H37P	ENST00000446237.3	37	c.110		3	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461666	0.26248	.	.	ENSG00000153558	ENST00000446237	T	0.17054	2.3	3.8	-2.7	0.06004	.	.	.	.	.	T	0.07773	0.0195	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37314	-0.9711	5	.	.	.	.	0.5926	0.00730	0.3599:0.1791:0.1109:0.3501	.	.	.	.	P	37	ENSP00000389251:H37P	.	H	+	2	0	FBXL2	33395266	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	0.140000	0.16056	-0.191000	0.10448	0.454000	0.30748	CAC	FBXL2	-	NULL	ENSG00000153558		0.418	FBXL2-201	KNOWN	basic	protein_coding	FBXL2	HGNC	protein_coding		111	0.00	0	A	NM_012157		33420262	33420262	+1	no_errors	ENST00000446237	ensembl	human	known	69_37n	missense	75	20.83	20	SNP	0.000	C
FBXO21	23014	genome.wustl.edu	37	12	117593716	117593716	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:117593716T>G	ENST00000330622.5	-	11	1575	c.1576A>C	c.(1576-1578)Acc>Ccc	p.T526P	FBXO21_ENST00000427718.2_Missense_Mutation_p.T519P			O94952	FBX21_HUMAN	F-box protein 21	526					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATCATGCAGGTGGGGTCCCAG	0.587											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(168;452 2038 13535 17701 43680)	dbGAP											0													112.0	86.0	95.0					12																	117593716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1576A>C	12.37:g.117593716T>G	ENSP00000328187:p.Thr526Pro	Somatic	1482	WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.T526P	ENST00000330622.5	37	c.1576	CCDS9184.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.12|13.12	2.140810|2.140810	0.37825|0.37825	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.47177	.|0.85;0.85	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Hemimethylated DNA-binding domain (2);F-box domain, Skp2-like (1);	.|0.125962	.|0.56097	.|D	.|0.000037	T|T	0.31199|0.31199	0.0789|0.0789	N|N	0.19112|0.19112	0.55|0.55	0.34439|0.34439	D|D	0.699438|0.699438	.|B;B;P;P	.|0.42584	.|0.22;0.11;0.784;0.744	.|B;B;B;B	.|0.42522	.|0.163;0.113;0.39;0.243	T|T	0.45440|0.45440	-0.9261|-0.9261	5|10	.|0.30078	.|T	.|0.28	-21.9417|-21.9417	4.8602|4.8602	0.13579|0.13579	0.2791:0.0791:0.0:0.6417|0.2791:0.0791:0.0:0.6417	.|.	.|375;269;526;519	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	P|P	402|519;435;375;526;178	.|ENSP00000414468:T519P;ENSP00000328187:T526P	.|ENSP00000257563:T435P	H|T	-|-	2|1	0|0	FBXO21|FBXO21	116078099|116078099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.781000|3.781000	0.55394|0.55394	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	CAC|ACC	FBXO21	-	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	ENSG00000135108		0.587	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	50	0.00	0	T	NM_033624		117593716	117593716	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	missense	39	25.93	14	SNP	0.987	G
FBXO21	23014	genome.wustl.edu	37	12	117604763	117604763	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:117604763A>C	ENST00000330622.5	-	8	1132	c.1133T>G	c.(1132-1134)gTg>gGg	p.V378G	FBXO21_ENST00000427718.2_Missense_Mutation_p.V378G			O94952	FBX21_HUMAN	F-box protein 21	378					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GACATTGACCACCCCATACAG	0.478																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											0													222.0	190.0	201.0					12																	117604763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1133T>G	12.37:g.117604763A>C	ENSP00000328187:p.Val378Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.V378G	ENST00000330622.5	37	c.1133	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846663	0.51164	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000330622;ENST00000548840	T;T	0.46819	0.86;0.87	5.93	5.93	0.95920	F-box domain, Skp2-like (1);	0.130337	0.52532	D	0.000074	T	0.37348	0.1000	L	0.33485	1.01	0.80722	D	1	P;P	0.42757	0.789;0.75	B;B	0.40940	0.344;0.233	T	0.17561	-1.0365	10	0.33141	T	0.24	-21.8927	10.6842	0.45833	0.9294:0.0:0.0706:0.0	.	378;378	O94952;O94952-1	FBX21_HUMAN;.	G	378;294;378;30	ENSP00000414468:V378G;ENSP00000328187:V378G	ENSP00000257563:V294G	V	-	2	0	FBXO21	116089146	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	6.850000	0.75420	2.281000	0.76405	0.533000	0.62120	GTG	FBXO21	-	superfamily_F-box_dom_cyclin-like	ENSG00000135108		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	173	0.00	0	A	NM_033624		117604763	117604763	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	missense	163	15.10	29	SNP	1.000	C
FBXO21	23014	genome.wustl.edu	37	12	117612479	117612479	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:117612479T>G	ENST00000330622.5	-	5	715	c.716A>C	c.(715-717)cAc>cCc	p.H239P	FBXO21_ENST00000427718.2_Missense_Mutation_p.H239P|FBXO21_ENST00000549689.1_5'UTR			O94952	FBX21_HUMAN	F-box protein 21	239					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CAAGCTGGGGTGGCGACTGTT	0.468																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											0													91.0	77.0	82.0					12																	117612479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.716A>C	12.37:g.117612479T>G	ENSP00000328187:p.His239Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.H239P	ENST00000330622.5	37	c.716	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286025	0.80803	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.51574	0.71;0.7	5.13	5.13	0.70059	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.83275	0.985;0.996;0.952	T	0.67658	-0.5614	10	0.52906	T	0.07	-25.4012	14.9346	0.70944	0.0:0.0:0.0:1.0	.	155;239;239	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	P	239;155;155;239	ENSP00000414468:H239P;ENSP00000328187:H239P	ENSP00000257563:H155P	H	-	2	0	FBXO21	116096862	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.402000	0.79972	1.954000	0.56735	0.459000	0.35465	CAC	FBXO21	-	superfamily_F-box_dom_cyclin-like	ENSG00000135108		0.468	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	132	0.75	1	T	NM_033624		117612479	117612479	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	missense	125	20.25	32	SNP	1.000	G
FBXO22	26263	genome.wustl.edu	37	15	76222285	76222285	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:76222285T>G	ENST00000308275.3	+	6	794	c.689T>G	c.(688-690)gTg>gGg	p.V230G	FBXO22_ENST00000540507.1_Missense_Mutation_p.V126G|FBXO22_ENST00000453211.2_Missense_Mutation_p.V230G	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	230					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGCTGTAAGGTGGGAGCCAGT	0.433																																						dbGAP											0													202.0	178.0	186.0					15																	76222285		2197	4294	6491	-	-	-	SO:0001583	missense	0			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.689T>G	15.37:g.76222285T>G	ENSP00000307833:p.Val230Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.V230G	ENST00000308275.3	37	c.689	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400295	0.25291	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	4.85	-0.0275	0.13926	.	0.753000	0.12950	N	0.425898	T	0.17619	0.0423	N	0.14661	0.345	0.20638	N	0.999871	B;B	0.19200	0.02;0.034	B;B	0.19391	0.01;0.025	T	0.25813	-1.0121	9	0.22109	T	0.4	-5.849	5.5139	0.16896	0.1553:0.4529:0.0:0.3918	.	230;230	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	G	230;230;126	.	ENSP00000307833:V230G	V	+	2	0	FBXO22	74009340	0.004000	0.15560	0.653000	0.29593	0.981000	0.71138	0.586000	0.23894	-0.162000	0.10964	0.460000	0.39030	GTG	FBXO22	-	NULL	ENSG00000167196		0.433	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	295	0.00	0	T	NM_147188		76222285	76222285	+1	no_errors	ENST00000308275	ensembl	human	known	69_37n	missense	203	13.92	33	SNP	0.026	G
FBXO24	26261	genome.wustl.edu	37	7	100193238	100193238	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100193238T>G	ENST00000241071.6	+	8	1437	c.1115T>G	c.(1114-1116)gTg>gGg	p.V372G	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Silent_p.G317G|FBXO24_ENST00000427939.2_Missense_Mutation_p.V410G|FBXO24_ENST00000465843.1_Silent_p.G317G|FBXO24_ENST00000468962.1_Missense_Mutation_p.V360G|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	372					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTGGCCTGGTGGATGAATTT	0.502																																						dbGAP											0													105.0	99.0	101.0					7																	100193238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1115T>G	7.37:g.100193238T>G	ENSP00000241071:p.Val372Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.V410G	ENST00000241071.6	37	c.1229	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187078	0.57909	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	D;D;D	0.81908	-1.55;-1.55;-1.55	4.61	4.61	0.57282	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.112351	0.37761	N	0.001942	T	0.72399	0.3455	N	0.08118	0	0.80722	D	1	D;D;D;D	0.54601	0.967;0.967;0.967;0.967	P;P;P;P	0.50970	0.655;0.634;0.655;0.655	T	0.75654	-0.3243	10	0.87932	D	0	-16.4899	6.822	0.23862	0.0:0.1027:0.0:0.8973	.	360;410;372;372	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	G	372;360;410	ENSP00000241071:V372G;ENSP00000420239:V360G;ENSP00000416558:V410G	ENSP00000241071:V372G	V	+	2	0	FBXO24	100031174	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	2.586000	0.46119	1.941000	0.56285	0.254000	0.18369	GTG	FBXO24	-	superfamily_Reg_csome_cond/b-lactamase_inh	ENSG00000106336		0.502	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	55	0.00	0	T			100193238	100193238	+1	no_errors	ENST00000427939	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	1.000	G
FBXO30	84085	genome.wustl.edu	37	6	146125879	146125879	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:146125879A>C	ENST00000237281.4	-	2	1829	c.1663T>G	c.(1663-1665)Tgc>Ggc	p.C555G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	555							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCTAAAGGGCACCTCTGTTCC	0.413																																						dbGAP											0													117.0	105.0	109.0					6																	146125879		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1663T>G	6.37:g.146125879A>C	ENSP00000237281:p.Cys555Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXZ7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.C555G	ENST00000237281.4	37	c.1663	CCDS5208.1	6	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214170	0.58452	.	.	ENSG00000118496	ENST00000237281	T	0.67865	-0.29	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81733	-0.0798	10	0.87932	D	0	-14.0515	16.3526	0.83220	1.0:0.0:0.0:0.0	.	555	Q8TB52	FBX30_HUMAN	G	555	ENSP00000237281:C555G	ENSP00000237281:C555G	C	-	1	0	FBXO30	146167572	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.255000	0.74692	0.533000	0.62120	TGC	FBXO30	-	NULL	ENSG00000118496		0.413	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	308	0.00	0	A			146125879	146125879	-1	no_errors	ENST00000237281	ensembl	human	known	69_37n	missense	228	13.26	35	SNP	1.000	C
FBXO30	84085	genome.wustl.edu	37	6	146126453	146126453	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:146126453A>C	ENST00000237281.4	-	2	1255	c.1089T>G	c.(1087-1089)ggT>ggG	p.G363G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	363							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACACAATTCACCTTCACCTT	0.413																																						dbGAP											0													145.0	136.0	139.0					6																	146126453		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1089T>G	6.37:g.146126453A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXZ7	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.G363	ENST00000237281.4	37	c.1089	CCDS5208.1	6																																																																																			FBXO30	-	NULL	ENSG00000118496		0.413	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	333	0.89	3	A			146126453	146126453	-1	no_errors	ENST00000237281	ensembl	human	known	69_37n	silent	254	11.50	33	SNP	0.188	C
FBXO30	84085	genome.wustl.edu	37	6	146126544	146126544	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:146126544A>C	ENST00000237281.4	-	2	1164	c.998T>G	c.(997-999)gTg>gGg	p.V333G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	333							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTGTGCTGCCACCGCAAGTGA	0.423																																						dbGAP											0													133.0	122.0	126.0					6																	146126544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.998T>G	6.37:g.146126544A>C	ENSP00000237281:p.Val333Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXZ7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.V333G	ENST00000237281.4	37	c.998	CCDS5208.1	6	.	.	.	.	.	.	.	.	.	.	A	4.925	0.171791	0.09391	.	.	ENSG00000118496	ENST00000237281	T	0.19394	2.15	5.46	2.81	0.32909	.	0.835399	0.11055	N	0.604559	T	0.08758	0.0217	L	0.54323	1.7	0.44995	D	0.998017	B	0.20671	0.047	B	0.21708	0.036	T	0.14643	-1.0465	10	0.87932	D	0	-4.174	3.2932	0.06957	0.6428:0.1451:0.0733:0.1388	.	333	Q8TB52	FBX30_HUMAN	G	333	ENSP00000237281:V333G	ENSP00000237281:V333G	V	-	2	0	FBXO30	146168237	0.999000	0.42202	0.970000	0.41538	0.394000	0.30568	1.469000	0.35343	0.953000	0.37825	0.533000	0.62120	GTG	FBXO30	-	NULL	ENSG00000118496		0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	263	0.00	0	A			146126544	146126544	-1	no_errors	ENST00000237281	ensembl	human	known	69_37n	missense	196	14.35	33	SNP	0.959	C
FBXO34	55030	genome.wustl.edu	37	14	55818683	55818683	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:55818683T>G	ENST00000313833.4	+	2	1820	c.1575T>G	c.(1573-1575)agT>agG	p.S525R	FBXO34_ENST00000440021.1_Missense_Mutation_p.S525R	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	525										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGGAAAAAAGTGGGTCTGCTG	0.498																																						dbGAP											0													129.0	126.0	127.0					14																	55818683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1575T>G	14.37:g.55818683T>G	ENSP00000313159:p.Ser525Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S525R	ENST00000313833.4	37	c.1575	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	T	1.342	-0.593805	0.03771	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.18502	2.21;2.21	5.06	-4.99	0.03010	.	0.712376	0.13200	N	0.406050	T	0.12305	0.0299	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17561	-1.0365	10	0.49607	T	0.09	-12.467	6.4185	0.21730	0.1054:0.5048:0.1079:0.282	.	525	Q9NWN3	FBX34_HUMAN	R	525	ENSP00000313159:S525R;ENSP00000394117:S525R	ENSP00000313159:S525R	S	+	3	2	FBXO34	54888436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.082000	0.01365	-1.213000	0.02617	-0.371000	0.07208	AGT	FBXO34	-	NULL	ENSG00000178974		0.498	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	192	0.52	1	T			55818683	55818683	+1	no_errors	ENST00000313833	ensembl	human	known	69_37n	missense	185	10.10	21	SNP	0.000	G
FBXO46	23403	genome.wustl.edu	37	19	46215466	46215466	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:46215466T>G	ENST00000317683.3	-	2	1421	c.1288A>C	c.(1288-1290)Act>Cct	p.T430P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	430										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCGGGCGCAGTGGCCGGGGAG	0.716																																						dbGAP											0													6.0	7.0	7.0					19																	46215466		1727	3797	5524	-	-	-	SO:0001583	missense	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1288A>C	19.37:g.46215466T>G	ENSP00000410007:p.Thr430Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.T430P	ENST00000317683.3	37	c.1288	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	T	2.049	-0.418146	0.04766	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.69	-0.373	0.12516	.	.	.	.	.	T	0.14141	0.0342	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20207	-1.0282	8	0.42905	T	0.14	-2.2323	4.267	0.10768	0.0:0.2072:0.2705:0.5223	.	430	Q6PJ61	FBX46_HUMAN	P	430	.	ENSP00000410007:T430P	T	-	1	0	FBXO46	50907306	0.000000	0.05858	0.017000	0.16124	0.022000	0.10575	-0.954000	0.03873	0.210000	0.20664	0.455000	0.32223	ACT	FBXO46	-	NULL	ENSG00000177051		0.716	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	19	0.00	0	T	XM_371179		46215466	46215466	-1	no_errors	ENST00000317683	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.009	G
FBXO7	25793	genome.wustl.edu	37	22	32887130	32887130	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:32887130A>C	ENST00000266087.7	+	6	1256	c.929A>C	c.(928-930)gAc>gCc	p.D310A	FBXO7_ENST00000397426.1_Missense_Mutation_p.D196A|FBXO7_ENST00000382058.3_Missense_Mutation_p.D231A	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	310	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTTTAAAGACCAGCTGGTG	0.333																																						dbGAP											0													79.0	82.0	81.0					22																	32887130		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.929A>C	22.37:g.32887130A>C	ENSP00000266087:p.Asp310Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D310A	ENST00000266087.7	37	c.929	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459453	0.84317	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.42513	0.97;0.97;0.97	5.63	5.63	0.86233	.	0.092204	0.64402	D	0.000001	T	0.66538	0.2799	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.67145	0.995;0.996	D;D	0.70227	0.946;0.968	T	0.71817	-0.4478	10	0.87932	D	0	-10.1005	15.8352	0.78793	1.0:0.0:0.0:0.0	.	231;310	Q9Y3I1-2;Q9Y3I1	.;FBX7_HUMAN	A	310;231;196	ENSP00000266087:D310A;ENSP00000371490:D231A;ENSP00000380571:D196A	ENSP00000266087:D310A	D	+	2	0	FBXO7	31217130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.125000	0.77193	2.149000	0.67028	0.528000	0.53228	GAC	FBXO7	-	pfam_Inhibitor_PI31	ENSG00000100225		0.333	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	129	0.77	1	A			32887130	32887130	+1	no_errors	ENST00000266087	ensembl	human	known	69_37n	missense	59	25.32	20	SNP	1.000	C
FBXO7	25793	genome.wustl.edu	37	22	32894237	32894237	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:32894237A>C	ENST00000266087.7	+	9	1616	c.1289A>C	c.(1288-1290)cAc>cCc	p.H430P	FBXO7_ENST00000397426.1_Missense_Mutation_p.H316P|FBXO7_ENST00000382058.3_Missense_Mutation_p.H351P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	430	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCCCTTGCACCCTAGGCCA	0.502																																						dbGAP											0													171.0	168.0	169.0					22																	32894237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1289A>C	22.37:g.32894237A>C	ENSP00000266087:p.His430Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.H430P	ENST00000266087.7	37	c.1289	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	A	5.514	0.279764	0.10458	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.73575	-0.76;-0.16;-0.15	6.03	-0.0414	0.13868	F-box domain, Skp2-like (1);	1.090020	0.06931	N	0.811026	T	0.61185	0.2327	L	0.34521	1.04	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.003;0.006;0.003	T	0.42137	-0.9469	10	0.32370	T	0.25	-0.4344	6.0906	0.19993	0.5395:0.2582:0.2023:0.0	.	430;351;430	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	P	430;351;316	ENSP00000266087:H430P;ENSP00000371490:H351P;ENSP00000380571:H316P	ENSP00000266087:H430P	H	+	2	0	FBXO7	31224237	0.841000	0.29509	0.001000	0.08648	0.330000	0.28571	1.836000	0.39191	-0.289000	0.09038	-0.250000	0.11733	CAC	FBXO7	-	superfamily_F-box_dom_cyclin-like	ENSG00000100225		0.502	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	520	0.19	1	A			32894237	32894237	+1	no_errors	ENST00000266087	ensembl	human	known	69_37n	missense	259	13.62	41	SNP	0.017	C
FBXW7	55294	genome.wustl.edu	37	4	153247265	153247265	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:153247265T>C	ENST00000281708.4	-	10	2766	c.1537A>G	c.(1537-1539)Agg>Ggg	p.R513G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R395G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R513G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R433G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R513G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R337G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	513					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTAACAACCCTCCTGCCATCA	0.453			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	dbGAP		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											181.0	175.0	177.0					4																	153247265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1537A>G	4.37:g.153247265T>C	ENSP00000281708:p.Arg513Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R513G	ENST00000281708.4	37	c.1537	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113162	0.56398	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.72	4.54	0.55810	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044508	0.85682	N	0.000000	T	0.57917	0.2086	L	0.39566	1.225	0.80722	D	1	P;D;P;D	0.59767	0.928;0.986;0.95;0.972	P;P;P;P	0.57324	0.561;0.818;0.521;0.598	T	0.53358	-0.8450	10	0.25106	T	0.35	-20.3242	8.414	0.32659	0.0:0.0683:0.1319:0.7998	.	337;513;395;433	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	513;395;433;337	ENSP00000281708:R513G;ENSP00000296555:R395G;ENSP00000263981:R433G;ENSP00000377528:R337G	ENSP00000263981:R433G	R	-	1	2	FBXW7	153466715	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.403000	0.52615	1.101000	0.41535	-0.263000	0.10527	AGG	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.453	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	166	0.60	1	T			153247265	153247265	-1	no_errors	ENST00000281708	ensembl	human	known	69_37n	missense	133	14.19	22	SNP	1.000	C
FCRL4	83417	genome.wustl.edu	37	1	157548586	157548586	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:157548586A>C	ENST00000271532.1	-	9	1469	c.1334T>G	c.(1333-1335)gTg>gGg	p.V445G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	445					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGAAGCTCCACCTGGGCAGG	0.532																																						dbGAP											0													79.0	69.0	73.0					1																	157548586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1334T>G	1.37:g.157548586A>C	ENSP00000271532:p.Val445Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V445G	ENST00000271532.1	37	c.1334	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909106	0.72868	.	.	ENSG00000163518	ENST00000271532	T	0.19532	2.14	4.84	4.84	0.62591	.	0.447214	0.16962	N	0.192443	T	0.09069	0.0224	L	0.45581	1.43	0.19300	N	0.999978	P	0.45715	0.865	B	0.42188	0.379	T	0.12682	-1.0538	10	0.22706	T	0.39	.	10.7208	0.46040	1.0:0.0:0.0:0.0	.	445	Q96PJ5	FCRL4_HUMAN	G	445	ENSP00000271532:V445G	ENSP00000271532:V445G	V	-	2	0	FCRL4	155815210	0.001000	0.12720	0.046000	0.18839	0.515000	0.34225	0.577000	0.23758	2.012000	0.59069	0.533000	0.62120	GTG	FCRL4	-	NULL	ENSG00000163518		0.532	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	39	0.00	0	A	NM_031282		157548586	157548586	-1	no_errors	ENST00000271532	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.067	C
FCGR3A	2214	genome.wustl.edu	37	1	161514722	161514722	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:161514722A>C	ENST00000436743.1	-	5	500	c.346T>G	c.(346-348)Tgg>Ggg	p.W116G	FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Missense_Mutation_p.W151G|FCGR3A_ENST00000367969.3_Missense_Mutation_p.W152G|FCGR3A_ENST00000540048.1_Missense_Mutation_p.W116G|RP11-25K21.6_ENST00000537821.2_RNA	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	116	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGAACACCCACCGAGGGGCC	0.562																																						dbGAP											0													48.0	44.0	45.0					1																	161514722		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.346T>G	1.37:g.161514722A>C	ENSP00000416607:p.Trp116Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.W152G	ENST00000436743.1	37	c.454	CCDS44266.1	1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412450	0.25465	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.03	-5.56	0.02529	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.352130	0.05009	N	0.470520	T	0.04407	0.0121	M	0.71581	2.175	0.09310	N	1	B;B;P	0.37548	0.452;0.415;0.599	B;B;B	0.40602	0.327;0.334;0.22	T	0.29579	-1.0007	10	0.39692	T	0.17	.	3.2489	0.06807	0.33:0.1282:0.4167:0.1251	.	116;151;116	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	G	152;151;116;116;116	ENSP00000356946:W152G;ENSP00000392047:W151G;ENSP00000416607:W116G;ENSP00000356944:W116G;ENSP00000444971:W116G	ENSP00000356944:W116G	W	-	1	0	FCGR3A	159781346	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.222000	0.02965	-0.912000	0.03837	0.383000	0.25322	TGG	FCGR3A	-	smart_Ig_sub	ENSG00000203747		0.562	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	33	0.00	0	A	NM_000569		161514722	161514722	-1	no_errors	ENST00000367969	ensembl	human	known	69_37n	missense	68	26.60	25	SNP	0.000	C
FEM1C	56929	genome.wustl.edu	37	5	114878898	114878898	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:114878898A>C	ENST00000274457.3	-	2	854	c.293T>G	c.(292-294)gTg>gGg	p.V98G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	98					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GGACTGGACCACCTTCAGATG	0.498																																						dbGAP											0													62.0	61.0	61.0					5																	114878898		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.293T>G	5.37:g.114878898A>C	ENSP00000274457:p.Val98Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V98G	ENST00000274457.3	37	c.293	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976793	0.92982	.	.	ENSG00000145780	ENST00000274457	T	0.66280	-0.2	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.79123	2.44	0.80722	D	1	D	0.54964	0.969	P	0.53266	0.722	T	0.78807	-0.2059	10	0.87932	D	0	-22.5708	15.6378	0.76970	1.0:0.0:0.0:0.0	.	98	Q96JP0	FEM1C_HUMAN	G	98	ENSP00000274457:V98G	ENSP00000274457:V98G	V	-	2	0	FEM1C	114906797	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.335000	0.96500	2.095000	0.63458	0.482000	0.46254	GTG	FEM1C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145780		0.498	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3	77	0.00	0	A	NM_020177		114878898	114878898	-1	no_errors	ENST00000274457	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	C
FER1L6	654463	genome.wustl.edu	37	8	125083835	125083835	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:125083835A>C	ENST00000522917.1	+	31	4261	c.4055A>C	c.(4054-4056)cAc>cCc	p.H1352P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.H1352P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1352	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCGCCCAATCACCCTGTCACA	0.512																																						dbGAP											0													84.0	87.0	86.0					8																	125083835		1903	4129	6032	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4055A>C	8.37:g.125083835A>C	ENSP00000428280:p.His1352Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.H1352P	ENST00000522917.1	37	c.4055	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	A	10.70	1.423282	0.25639	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81163	-1.46;-1.46	6.17	6.17	0.99709	C2 calcium/lipid-binding domain, CaLB (1);	0.378221	0.28595	U	0.014783	T	0.75170	0.3813	L	0.32530	0.975	0.38663	D	0.95212	P	0.38167	0.621	B	0.39617	0.305	T	0.76035	-0.3106	10	0.34782	T	0.22	-12.045	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1352	Q2WGJ9	FR1L6_HUMAN	P	1352	ENSP00000428280:H1352P;ENSP00000381982:H1352P	ENSP00000381982:H1352P	H	+	2	0	FER1L6	125153016	0.930000	0.31532	0.412000	0.26496	0.003000	0.03518	4.362000	0.59467	2.371000	0.80710	0.533000	0.62120	CAC	FER1L6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000214814		0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	81	0.00	0	A	NM_001039112		125083835	125083835	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	50	17.74	11	SNP	1.000	C
FERMT2	10979	genome.wustl.edu	37	14	53417141	53417141	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:53417141A>C	ENST00000395631.2	-	2	362	c.146T>G	c.(145-147)gTg>gGg	p.V49G	FERMT2_ENST00000399304.3_Missense_Mutation_p.V49G|FERMT2_ENST00000341590.3_Missense_Mutation_p.V49G|FERMT2_ENST00000343279.4_Missense_Mutation_p.V49G|FERMT2_ENST00000553373.1_Missense_Mutation_p.V49G			Q96AC1	FERM2_HUMAN	fermitin family member 2	49	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GAGTTTCTCCACCAGCTTAAG	0.587																																						dbGAP											0													176.0	156.0	163.0					14																	53417141		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.146T>G	14.37:g.53417141A>C	ENSP00000378993:p.Val49Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V49G	ENST00000395631.2	37	c.146	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	A	24.0	4.476796	0.84640	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554712	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.77903	0.4200	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.82246	-0.0552	10	0.87932	D	0	.	14.1039	0.65075	1.0:0.0:0.0:0.0	.	49;49;49	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	G	49	ENSP00000378993:V49G;ENSP00000340391:V49G;ENSP00000342858:V49G;ENSP00000451084:V49G;ENSP00000382243:V49G;ENSP00000450506:V49G	ENSP00000340391:V49G	V	-	2	0	FERMT2	52486891	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.915000	0.92740	1.793000	0.52555	0.379000	0.24179	GTG	FERMT2	-	NULL	ENSG00000073712		0.587	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	73	0.00	0	A	NM_006832		53417141	53417141	-1	no_errors	ENST00000343279	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	C
FETUB	26998	genome.wustl.edu	37	3	186370157	186370157	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:186370157T>C	ENST00000265029.3	+	7	987	c.886T>C	c.(886-888)Tcc>Ccc	p.S296P	FETUB_ENST00000382136.3_Missense_Mutation_p.S259P|FETUB_ENST00000450521.1_Missense_Mutation_p.S296P|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.S148P|FETUB_ENST00000382134.3_Missense_Mutation_p.S231P|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	296					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGACTCCCCCTCCAAAGCTGG	0.502																																						dbGAP											0													95.0	110.0	105.0					3																	186370157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.886T>C	3.37:g.186370157T>C	ENSP00000265029:p.Ser296Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.S296P	ENST00000265029.3	37	c.886	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	T	8.130	0.782850	0.16189	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.10573	2.95;3.03;2.95;3.32;2.86	3.76	-5.91	0.02269	.	1.013950	0.07898	N	0.972269	T	0.07593	0.0191	L	0.54323	1.7	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.09377	0.003;0.004;0.003	T	0.41680	-0.9495	10	0.32370	T	0.25	-3.0E-4	0.6045	0.00750	0.2696:0.2421:0.3023:0.186	.	259;231;296	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	P	296;148;296;231;259	ENSP00000404288:S296P;ENSP00000443704:S148P;ENSP00000265029:S296P;ENSP00000371569:S231P;ENSP00000371571:S259P	ENSP00000265029:S296P	S	+	1	0	FETUB	187852851	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.549000	0.02182	-1.252000	0.02491	0.533000	0.62120	TCC	FETUB	-	NULL	ENSG00000090512		0.502	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	538	0.37	2	T	NM_014375		186370157	186370157	+1	no_errors	ENST00000265029	ensembl	human	known	69_37n	missense	393	12.42	56	SNP	0.000	C
FETUB	26998	genome.wustl.edu	37	3	186370283	186370283	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:186370283A>C	ENST00000265029.3	+	7	1113	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	FETUB_ENST00000382136.3_Missense_Mutation_p.T301P|FETUB_ENST00000450521.1_Missense_Mutation_p.T338P|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.T190P|FETUB_ENST00000382134.3_Missense_Mutation_p.T273P|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	338					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCAGGGAGAAACCCTGGATAT	0.532																																						dbGAP											0													78.0	87.0	84.0					3																	186370283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1012A>C	3.37:g.186370283A>C	ENSP00000265029:p.Thr338Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.T338P	ENST00000265029.3	37	c.1012	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	A	9.085	1.000344	0.19121	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.72	-9.45	0.00600	.	1.623510	0.03188	N	0.172922	T	0.28896	0.0717	L	0.38531	1.155	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.18524	-1.0334	10	0.48119	T	0.1	1.5493	8.1005	0.30854	0.138:0.6132:0.1531:0.0956	.	301;273;338	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	P	338;190;338;273;301	ENSP00000404288:T338P;ENSP00000443704:T190P;ENSP00000265029:T338P;ENSP00000371569:T273P;ENSP00000371571:T301P	ENSP00000265029:T338P	T	+	1	0	FETUB	187852977	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-0.834000	0.04391	-2.249000	0.00702	0.533000	0.62120	ACC	FETUB	-	NULL	ENSG00000090512		0.532	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	377	0.79	3	A	NM_014375		186370283	186370283	+1	no_errors	ENST00000265029	ensembl	human	known	69_37n	missense	213	13.01	32	SNP	0.000	C
FEZ1	9638	genome.wustl.edu	37	11	125325954	125325954	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:125325954A>C	ENST00000278919.3	-	6	950	c.716T>G	c.(715-717)gTg>gGg	p.V239G	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	239					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GGCACCCTCCACCTGGTCCAG	0.617																																					Melanoma(180;509 2033 10762 15939 24711)	dbGAP											0													53.0	54.0	54.0					11																	125325954		2201	4299	6500	-	-	-	SO:0001583	missense	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.716T>G	11.37:g.125325954A>C	ENSP00000278919:p.Val239Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.V239G	ENST00000278919.3	37	c.716	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	A	19.36	3.811917	0.70797	.	.	ENSG00000149557	ENST00000278919	T	0.36699	1.24	5.65	5.65	0.86999	.	0.113080	0.64402	D	0.000011	T	0.50292	0.1607	M	0.61703	1.905	0.80722	D	1	D;P	0.58970	0.984;0.631	P;P	0.57679	0.825;0.486	T	0.53940	-0.8367	10	0.87932	D	0	-21.9514	10.9895	0.47541	0.9256:0.0:0.0744:0.0	.	210;239	B4DKG5;Q99689	.;FEZ1_HUMAN	G	239	ENSP00000278919:V239G	ENSP00000278919:V239G	V	-	2	0	FEZ1	124831164	0.962000	0.33011	1.000000	0.80357	0.999000	0.98932	5.252000	0.65445	2.149000	0.67028	0.533000	0.62120	GTG	FEZ1	-	pfam_FEZ	ENSG00000149557		0.617	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	58	0.00	0	A	NM_005103		125325954	125325954	-1	no_errors	ENST00000278919	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	C
FEZ2	9637	genome.wustl.edu	37	2	36787957	36787957	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:36787957T>G	ENST00000405912.3	-	6	903				FEZ2_ENST00000379245.4_Missense_Mutation_p.T319P|FEZ2_ENST00000487919.1_5'UTR|FEZ2_ENST00000305852.7_Intron	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)						axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TTTCCAAAGGTGTGGCGGAGG	0.443																																						dbGAP											0													161.0	158.0	159.0					2																	36787957		1893	4119	6012	-	-	-	SO:0001627	intron_variant	0			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.904-2301A>C	2.37:g.36787957T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	pfam_FEZ	p.T319P	ENST00000405912.3	37	c.955	CCDS46257.1	2	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793791	0.90453	.	.	ENSG00000171055	ENST00000379245	T	0.03386	3.95	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00054	-1.2181	9	0.72032	D	0.01	-26.9874	15.7569	0.78037	0.0:0.0:0.0:1.0	.	319	Q9UHY8-2	.	P	319	ENSP00000368547:T319P	ENSP00000368547:T319P	T	-	1	0	FEZ2	36641461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.284000	0.78650	2.371000	0.80710	0.533000	0.62120	ACC	FEZ2	-	NULL	ENSG00000171055		0.443	FEZ2-002	KNOWN	basic|CCDS	protein_coding	FEZ2	HGNC	protein_coding	OTTHUMT00000325432.1	265	0.00	0	T			36787957	36787957	-1	no_errors	ENST00000379245	ensembl	human	novel	69_37n	missense	213	10.79	26	SNP	1.000	G
FGA	2243	genome.wustl.edu	37	4	155507334	155507334	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:155507334A>C	ENST00000302053.3	-	5	1325	c.1247T>G	c.(1246-1248)gTg>gGg	p.V416G	FGA_ENST00000403106.3_Missense_Mutation_p.V416G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	416					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTTCCTGACACCTCTTCAAA	0.493																																					NSCLC(143;340 1922 20892 22370 48145)	dbGAP											0													157.0	162.0	160.0					4																	155507334		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1247T>G	4.37:g.155507334A>C	ENSP00000306361:p.Val416Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V416G	ENST00000302053.3	37	c.1247	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	A	8.154	0.788113	0.16258	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.56275	0.47;2.92	5.77	-5.3	0.02738	.	27.256800	0.00166	N	0.000005	T	0.40015	0.1100	L	0.41027	1.25	0.09310	N	1	B;B	0.15473	0.013;0.006	B;B	0.15052	0.012;0.006	T	0.25537	-1.0129	10	0.49607	T	0.09	.	4.2862	0.10857	0.3018:0.1182:0.4637:0.1163	.	416;416	P02671-2;P02671	.;FIBA_HUMAN	G	416	ENSP00000306361:V416G;ENSP00000385981:V416G	ENSP00000306361:V416G	V	-	2	0	FGA	155726784	0.000000	0.05858	0.000000	0.03702	0.750000	0.42670	-1.067000	0.03451	-0.825000	0.04290	0.533000	0.62120	GTG	FGA	-	NULL	ENSG00000171560		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	211	0.47	1	A	NM_000508		155507334	155507334	-1	no_errors	ENST00000302053	ensembl	human	known	69_37n	missense	245	11.87	33	SNP	0.000	C
FGF23	8074	genome.wustl.edu	37	12	4481814	4481814	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:4481814A>C	ENST00000237837.1	-	2	406	c.261T>G	c.(259-261)ggT>ggG	p.G87G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	87					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGCTCATCACACCTGTAATCA	0.443																																						dbGAP											0													168.0	145.0	152.0					12																	4481814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.261T>G	12.37:g.4481814A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V758	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.G87	ENST00000237837.1	37	c.261	CCDS8526.1	12																																																																																			FGF23	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	ENSG00000118972		0.443	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	133	0.00	0	A			4481814	4481814	-1	no_errors	ENST00000237837	ensembl	human	known	69_37n	silent	121	12.32	17	SNP	0.864	C
FGFR1	2260	genome.wustl.edu	37	8	38271806	38271806	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:38271806A>C	ENST00000447712.2	-	16	2991	c.2050T>G	c.(2050-2052)Tgg>Ggg	p.W684G	FGFR1_ENST00000532791.1_Splice_Site_p.W682G|FGFR1_ENST00000326324.6_Splice_Site_p.W593G|FGFR1_ENST00000335922.5_Splice_Site_p.W674G|FGFR1_ENST00000341462.5_Splice_Site_p.W684G|FGFR1_ENST00000397108.4_Splice_Site_p.W682G|FGFR1_ENST00000397103.1_Splice_Site_p.W595G|FGFR1_ENST00000397091.5_Splice_Site_p.W682G|FGFR1_ENST00000425967.3_Splice_Site_p.W715G|FGFR1_ENST00000397113.2_Splice_Site_p.W682G|FGFR1_ENST00000356207.5_Splice_Site_p.W595G	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	684	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCGAAAGACCACCTGCAAATG	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													38.0	42.0	41.0					8																	38271806		2104	4255	6359	-	-	-	SO:0001630	splice_region_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2049-1T>G	8.37:g.38271806A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W715G	ENST00000447712.2	37	c.2143	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047199	0.75846	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.88	5.88	0.94601	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.98818	4.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99564	1.0969	10	0.87932	D	0	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	593;593;684;674;682	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	G	682;715;684;684;682;682;595;674;593;595;682	ENSP00000380280:W682G;ENSP00000393312:W715G;ENSP00000400162:W684G;ENSP00000340636:W684G;ENSP00000432972:W682G;ENSP00000380302:W682G;ENSP00000348537:W595G;ENSP00000337247:W674G;ENSP00000327229:W593G;ENSP00000380292:W595G;ENSP00000380297:W682G	ENSP00000327229:W593G	W	-	1	0	FGFR1	38390963	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.297000	0.96120	2.246000	0.74042	0.533000	0.62120	TGG	FGFR1	-	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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000077782		0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		41	0.00	0	A		Missense_Mutation	38271806	38271806	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	C
FGFR4	2264	genome.wustl.edu	37	5	176520398	176520398	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:176520398A>C	ENST00000292408.4	+	10	1496				FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Missense_Mutation_p.T375P|FGFR4_ENST00000292410.3_Missense_Mutation_p.T375P|FGFR4_ENST00000502906.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4						alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CAAGTCTCCCACTTTGCAGTT	0.637										TSP Lung(9;0.080)																												dbGAP											0													79.0	81.0	80.0					5																	176520398		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1252-9A>C	5.37:g.176520398A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T375P	ENST00000292408.4	37	c.1123	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	A	6.693	0.496532	0.12762	.	.	ENSG00000160867	ENST00000292410;ENST00000393637	T;T	0.79352	-1.26;-1.26	4.17	-6.88	0.01665	.	.	.	.	.	T	0.47116	0.1428	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	9	0.30854	T	0.27	.	0.5537	0.00667	0.1783:0.2172:0.2666:0.3379	.	375	P22455-2	.	P	375	ENSP00000292410:T375P;ENSP00000377254:T375P	ENSP00000292410:T375P	T	+	1	0	FGFR4	176453004	0.000000	0.05858	0.007000	0.13788	0.742000	0.42306	-0.608000	0.05641	-0.800000	0.04433	-0.451000	0.05528	ACT	FGFR4	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000160867		0.637	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	143	0.68	1	A			176520398	176520398	+1	no_errors	ENST00000292410	ensembl	human	known	69_37n	missense	72	10.98	9	SNP	0.002	C
FHL5	9457	genome.wustl.edu	37	6	97058462	97058462	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:97058462T>G	ENST00000326771.2	+	6	899	c.519T>G	c.(517-519)ggT>ggG	p.G173G	FHL5_ENST00000541107.1_Silent_p.G173G	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	173	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TAACTTCAGGTGGGATAACAT	0.418																																						dbGAP											0													262.0	242.0	249.0					6																	97058462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.519T>G	6.37:g.97058462T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G173	ENST00000326771.2	37	c.519	CCDS5035.1	6																																																																																			FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.418	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	179	0.56	1	T	NM_020482		97058462	97058462	+1	no_errors	ENST00000326771	ensembl	human	known	69_37n	silent	132	15.38	24	SNP	0.993	G
FHOD3	80206	genome.wustl.edu	37	18	34349323	34349323	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:34349323A>C	ENST00000359247.4	+	23	4120	c.4120A>C	c.(4120-4122)Acc>Ccc	p.T1374P	FHOD3_ENST00000445677.1_Missense_Mutation_p.T1353P|FHOD3_ENST00000592128.1_Missense_Mutation_p.T370P|FHOD3_ENST00000591635.1_Missense_Mutation_p.T587P|FHOD3_ENST00000590592.1_Missense_Mutation_p.T1574P|FHOD3_ENST00000257209.4_Missense_Mutation_p.T1391P	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1374	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAAGTCAGCCACCCAAGTGCC	0.552																																						dbGAP											0													107.0	88.0	95.0					18																	34349323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.4120A>C	18.37:g.34349323A>C	ENSP00000352186:p.Thr1374Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.T1391P	ENST00000359247.4	37	c.4171		18	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796120	0.90453	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.57107	0.42;0.49;0.49	5.52	5.52	0.82312	Diaphanous autoregulatory (1);	0.048025	0.85682	D	0.000000	T	0.72228	0.3434	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.994	T	0.76233	-0.3034	10	0.87932	D	0	.	13.0602	0.59002	1.0:0.0:0.0:0.0	.	1353;1374;1391	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	P	1391;1374;1353	ENSP00000257209:T1391P;ENSP00000352186:T1374P;ENSP00000411430:T1353P	ENSP00000257209:T1391P	T	+	1	0	FHOD3	32603321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.952000	0.93031	2.099000	0.63709	0.533000	0.62120	ACC	FHOD3	-	NULL	ENSG00000134775		0.552	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	64	0.00	0	A	XM_371114		34349323	34349323	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	C
FILIP1	27145	genome.wustl.edu	37	6	76022235	76022235	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:76022235T>G	ENST00000237172.7	-	5	3643	c.3313A>C	c.(3313-3315)Acc>Ccc	p.T1105P	FILIP1_ENST00000393004.2_Missense_Mutation_p.T1105P|FILIP1_ENST00000370020.1_Missense_Mutation_p.T1006P|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1105										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACAGTGCCGGTGGAAACCTCC	0.537																																						dbGAP											0													214.0	160.0	178.0					6																	76022235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3313A>C	6.37:g.76022235T>G	ENSP00000237172:p.Thr1105Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.T1105P	ENST00000237172.7	37	c.3313	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377895	0.42105	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21734	2.01;1.99;2.0	5.86	4.67	0.58626	.	0.144833	0.64402	N	0.000007	T	0.10680	0.0261	L	0.53249	1.67	0.58432	D	0.999998	B;B;B	0.18310	0.027;0.007;0.016	B;B;B	0.18561	0.018;0.007;0.022	T	0.02991	-1.1085	10	0.37606	T	0.19	-14.1242	13.0651	0.59028	0.0:0.0:0.1343:0.8657	.	1105;1105;1105	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	P	1105;1105;1006	ENSP00000376728:T1105P;ENSP00000237172:T1105P;ENSP00000359037:T1006P	ENSP00000237172:T1105P	T	-	1	0	FILIP1	76078955	1.000000	0.71417	0.991000	0.47740	0.484000	0.33280	6.337000	0.72958	1.010000	0.39314	0.533000	0.62120	ACC	FILIP1	-	NULL	ENSG00000118407		0.537	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	286	0.00	0	T	XM_029179		76022235	76022235	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	missense	199	11.06	25	SNP	1.000	G
FILIP1	27145	genome.wustl.edu	37	6	76023944	76023944	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:76023944A>C	ENST00000237172.7	-	5	1934	c.1604T>G	c.(1603-1605)gTg>gGg	p.V535G	FILIP1_ENST00000393004.2_Missense_Mutation_p.V535G|FILIP1_ENST00000370020.1_Missense_Mutation_p.V436G|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	535										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCTTGTTCCACCTTAAAATT	0.294																																						dbGAP											0													48.0	50.0	50.0					6																	76023944		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1604T>G	6.37:g.76023944A>C	ENSP00000237172:p.Val535Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.V535G	ENST00000237172.7	37	c.1604	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	A	9.147	1.015419	0.19355	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19532	2.17;2.17;2.14	5.95	5.95	0.96441	.	0.194516	0.45126	D	0.000396	T	0.16171	0.0389	L	0.58101	1.795	0.58432	D	0.999999	B;B;B	0.32731	0.172;0.263;0.382	B;B;B	0.38985	0.039;0.15;0.287	T	0.03684	-1.1013	10	0.24483	T	0.36	-28.5124	16.4237	0.83790	1.0:0.0:0.0:0.0	.	535;535;535	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	G	535;535;436	ENSP00000376728:V535G;ENSP00000237172:V535G;ENSP00000359037:V436G	ENSP00000237172:V535G	V	-	2	0	FILIP1	76080664	0.991000	0.36638	1.000000	0.80357	0.988000	0.76386	3.291000	0.51764	2.279000	0.76181	0.533000	0.62120	GTG	FILIP1	-	NULL	ENSG00000118407		0.294	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	218	0.00	0	A	XM_029179		76023944	76023944	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	missense	138	10.39	16	SNP	0.957	C
FIG4	9896	genome.wustl.edu	37	6	110064465	110064465	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:110064465A>C	ENST00000230124.3	+	9	1153	c.1029A>C	c.(1027-1029)ccA>ccC	p.P343P	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_3'UTR	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	343	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGCCTAAACCACCTATTACAT	0.373																																						dbGAP											0													166.0	152.0	157.0					6																	110064465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1029A>C	6.37:g.110064465A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53H49|Q5TCS6	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.P343	ENST00000230124.3	37	c.1029	CCDS5078.1	6																																																																																			FIG4	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000112367		0.373	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	182	0.00	0	A	NM_014845		110064465	110064465	+1	no_errors	ENST00000230124	ensembl	human	known	69_37n	silent	104	25.00	35	SNP	0.960	C
FLG	2312	genome.wustl.edu	37	1	152285554	152285554	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:152285554A>C	ENST00000368799.1	-	3	1843	c.1808T>G	c.(1807-1809)gTg>gGg	p.V603G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	603	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGGCCCACCTGTGAGTG	0.552									Ichthyosis																													dbGAP											0													295.0	290.0	292.0					1																	152285554		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1808T>G	1.37:g.152285554A>C	ENSP00000357789:p.Val603Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.V603G	ENST00000368799.1	37	c.1808	CCDS30860.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.947|6.947	0.544481|0.544481	0.13312|0.13312	.|.	.|.	ENSG00000143631|ENSG00000143631	ENST00000392689|ENST00000368799	.|T	.|0.01629	.|4.72	2.08|2.08	-1.43|-1.43	0.08884|0.08884	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00754	.|0.0025	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|P	.|0.41232	.|0.743	.|P	.|0.46452	.|0.517	.|T	.|0.41179	.|-0.9523	.|9	.|0.22706	.|T	.|0.39	.|.	0.9245|0.9245	0.01321|0.01321	0.1569:0.2282:0.3828:0.232|0.1569:0.2282:0.3828:0.232	.|.	.|603	.|P20930	.|FILA_HUMAN	.|G	-1|603	.|ENSP00000357789:V603G	.|ENSP00000357789:V603G	.|V	-|-	.|2	.|0	FLG|FLG	150552178|150552178	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.309000|-0.309000	0.08145|0.08145	-0.345000|-0.345000	0.08325|0.08325	-0.197000|-0.197000	0.12766|0.12766	.|GTG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	267	0.37	1	A	NM_002016		152285554	152285554	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	365	10.00	41	SNP	0.000	C
FLG2	388698	genome.wustl.edu	37	1	152323138	152323138	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:152323138T>G	ENST00000388718.5	-	3	7196	c.7124A>C	c.(7123-7125)cAc>cCc	p.H2375P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2375					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGAAAGGTGAGAATTACT	0.433																																						dbGAP											0													181.0	172.0	175.0					1																	152323138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.7124A>C	1.37:g.152323138T>G	ENSP00000373370:p.His2375Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.H2375P	ENST00000388718.5	37	c.7124	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	6.816	0.519614	0.13005	.	.	ENSG00000143520	ENST00000388718	T	0.21361	2.01	4.03	-0.438	0.12268	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	P	0.35821	0.523	B	0.23852	0.049	T	0.39583	-0.9607	9	0.42905	T	0.14	8.5498	3.3223	0.07054	0.3455:0.4408:0.0:0.2136	.	2375	Q5D862	FILA2_HUMAN	P	2375	ENSP00000373370:H2375P	ENSP00000373370:H2375P	H	-	2	0	FLG2	150589762	0.008000	0.16893	0.030000	0.17652	0.001000	0.01503	-0.214000	0.09292	-0.146000	0.11274	-0.466000	0.05196	CAC	FLG2	-	NULL	ENSG00000143520		0.433	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	267	0.37	1	T	NM_001014342		152323138	152323138	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	257	17.63	55	SNP	0.076	G
FLG2	388698	genome.wustl.edu	37	1	152326471	152326471	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:152326471A>C	ENST00000388718.5	-	3	3863	c.3791T>G	c.(3790-3792)gTa>gGa	p.V1264G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1264	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTAGTTACCCTGGACCC	0.458																																						dbGAP											0													334.0	307.0	316.0					1																	152326471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3791T>G	1.37:g.152326471A>C	ENSP00000373370:p.Val1264Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.V1264G	ENST00000388718.5	37	c.3791	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	A	3.274	-0.148561	0.06627	.	.	ENSG00000143520	ENST00000388718	T	0.04654	3.58	3.17	-6.34	0.01982	.	.	.	.	.	T	0.00637	0.0021	N	0.22421	0.69	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.47169	-0.9138	9	0.22706	T	0.39	7.0764	1.5341	0.02542	0.3366:0.2801:0.2673:0.116	.	1264	Q5D862	FILA2_HUMAN	G	1264	ENSP00000373370:V1264G	ENSP00000373370:V1264G	V	-	2	0	FLG2	150593095	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-4.576000	0.00213	-2.115000	0.00831	-0.761000	0.03458	GTA	FLG2	-	prints_Filaggrin	ENSG00000143520		0.458	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	373	0.80	3	A	NM_001014342		152326471	152326471	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	374	11.11	47	SNP	0.000	C
FLAD1	80308	genome.wustl.edu	37	1	154955875	154955875	+	5'UTR	SNP	T	T	G	rs569007120	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154955875T>G	ENST00000292180.3	+	0	27				FLAD1_ENST00000368432.1_Splice_Site|FLAD1_ENST00000368433.1_5'UTR|FLAD1_ENST00000368431.3_Splice_Site|FLAD1_ENST00000315144.10_Splice_Site	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1						FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGCAGGTGAGAGTCTAA	0.532																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.-296T>G	1.37:g.154955875T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Splice_Site	SNP	-	e0+2	ENST00000292180.3	37	c.1+2	CCDS1078.1	1																																																																																			FLAD1	-	-	ENSG00000160688		0.532	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	16	0.00	0	T	NM_025207		154955875	154955875	+1	no_errors	ENST00000315144	ensembl	human	known	69_37n	splice_site	8	50.00	9	SNP	1.000	G
FLNA	2316	genome.wustl.edu	37	X	153592705	153592705	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:153592705A>C	ENST00000369850.3	-	14	2294	c.2058T>G	c.(2056-2058)ggT>ggG	p.G686G	FLNA_ENST00000422373.1_Silent_p.G686G|FLNA_ENST00000344736.4_Silent_p.G686G|FLNA_ENST00000360319.4_Silent_p.G686G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	686					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGGCCACACCTGTCTTCT	0.632																																						dbGAP											0													94.0	94.0	94.0					X																	153592705		2119	4213	6332	-	-	-	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2058T>G	X.37:g.153592705A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G686	ENST00000369850.3	37	c.2058	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	29	0.00	0	A			153592705	153592705	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.714	C
FLNB	2317	genome.wustl.edu	37	3	58084468	58084468	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:58084468T>G	ENST00000295956.4	+	8	1343	c.1178T>G	c.(1177-1179)gTg>gGg	p.V393G	FLNB_ENST00000348383.5_Missense_Mutation_p.V393G|FLNB_ENST00000357272.4_Missense_Mutation_p.V393G|FLNB_ENST00000358537.3_Missense_Mutation_p.V393G|FLNB_ENST00000490882.1_Missense_Mutation_p.V393G|FLNB_ENST00000419752.2_Missense_Mutation_p.V224G|FLNB_ENST00000493452.1_Missense_Mutation_p.V224G|FLNB_ENST00000429972.2_Missense_Mutation_p.V393G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	393					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTGTGGAGGTGGAAGATCCC	0.532																																						dbGAP											0													230.0	205.0	213.0					3																	58084468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1178T>G	3.37:g.58084468T>G	ENSP00000295956:p.Val393Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V393G	ENST00000295956.4	37	c.1178	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139701	0.77775	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.94576	-3.46;-2.24;-2.24;-3.46;-3.46;-3.46;-2.24;-3.46	5.28	5.28	0.74379	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.109289	0.64402	D	0.000006	D	0.97133	0.9063	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D;D	0.71674	0.992;0.978;0.998;0.982;0.997;0.998	D;P;D;P;D;D	0.71656	0.92;0.821;0.974;0.892;0.952;0.974	D	0.97646	1.0151	10	0.62326	D	0.03	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	393;393;224;224;393;393	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	393;393;393;393;393;393;224;224	ENSP00000295956:V393G;ENSP00000420213:V393G;ENSP00000351339:V393G;ENSP00000415599:V393G;ENSP00000232447:V393G;ENSP00000349819:V393G;ENSP00000418510:V224G;ENSP00000414532:V224G	ENSP00000295956:V393G	V	+	2	0	FLNB	58059508	1.000000	0.71417	0.973000	0.42090	0.653000	0.38743	8.040000	0.89188	2.125000	0.65367	0.459000	0.35465	GTG	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.532	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	61	0.00	0	T	NM_001457		58084468	58084468	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	missense	53	28.38	21	SNP	0.999	G
FLNB	2317	genome.wustl.edu	37	3	58135956	58135956	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:58135956T>G	ENST00000295956.4	+	38	6532		c.e38+2		FLNB_ENST00000348383.5_Intron|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAATCCCAGGTGGGCGTCGGG	0.602																																						dbGAP											0													70.0	81.0	77.0					3																	58135956		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6367+2T>G	3.37:g.58135956T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	-	e38+2	ENST00000295956.4	37	c.6367+2	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303034	0.81136	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58110996	1.000000	0.71417	0.996000	0.52242	0.863000	0.49368	7.889000	0.87307	2.371000	0.80710	0.533000	0.62120	.	FLNB	-	-	ENSG00000136068		0.602	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	64	0.00	0	T	NM_001457	Intron	58135956	58135956	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	splice_site	58	19.44	14	SNP	1.000	G
FLRT2	23768	genome.wustl.edu	37	14	86089115	86089115	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:86089115A>C	ENST00000330753.4	+	2	2024	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	FLRT2_ENST00000554746.1_Silent_p.P419P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	419	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAGTGACCCCACCTATTTCTG	0.478																																						dbGAP											0													66.0	67.0	66.0					14																	86089115		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1257A>C	14.37:g.86089115A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.P419	ENST00000330753.4	37	c.1257	CCDS9877.1	14																																																																																			FLRT2	-	superfamily_Fibronectin_type3	ENSG00000185070		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	180	0.55	1	A			86089115	86089115	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	silent	86	21.43	24	SNP	0.897	C
FLT1	2321	genome.wustl.edu	37	13	29001326	29001326	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:29001326T>G	ENST00000282397.4	-	10	1657	c.1406A>C	c.(1405-1407)cAc>cCc	p.H469P	FLT1_ENST00000541932.1_Missense_Mutation_p.H469P|FLT1_ENST00000539099.1_Missense_Mutation_p.H469P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	469	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACAGGGGTGCCAGAACCA	0.433																																						dbGAP											0													177.0	159.0	165.0					13																	29001326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1406A>C	13.37:g.29001326T>G	ENSP00000282397:p.His469Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.H469P	ENST00000282397.4	37	c.1406	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308597	0.40895	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.74842	-0.88;2.74;-0.23	5.9	-0.927	0.10451	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.592674	0.18478	N	0.140012	T	0.76730	0.4028	M	0.72118	2.19	0.27069	N	0.963364	P;P;P;P	0.52170	0.951;0.951;0.951;0.842	P;P;P;P	0.57371	0.812;0.812;0.812;0.819	T	0.67753	-0.5589	10	0.25106	T	0.35	.	6.8949	0.24251	0.1039:0.3201:0.0:0.576	.	469;469;469;469	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	P	469	ENSP00000282397:H469P;ENSP00000437631:H469P;ENSP00000442630:H469P	ENSP00000282397:H469P	H	-	2	0	FLT1	27899326	0.317000	0.24589	0.028000	0.17463	0.419000	0.31324	0.478000	0.22212	-0.683000	0.05190	-1.162000	0.01777	CAC	FLT1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000102755		0.433	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	123	0.00	0	T			29001326	29001326	-1	no_errors	ENST00000282397	ensembl	human	known	69_37n	missense	117	20.95	31	SNP	0.617	G
FLVCR2	55640	genome.wustl.edu	37	14	76088463	76088463	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:76088463A>C	ENST00000238667.4	+	2	1067	c.711A>C	c.(709-711)gtA>gtC	p.V237V	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Silent_p.V32V|FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000553587.1_5'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	237					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGTTTTGGTACCCAACATTG	0.473																																						dbGAP											0													302.0	269.0	280.0					14																	76088463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.711A>C	14.37:g.76088463A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.V237	ENST00000238667.4	37	c.711	CCDS9844.1	14																																																																																			FLVCR2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119686		0.473	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	284	0.00	0	A	NM_017791		76088463	76088463	+1	no_errors	ENST00000238667	ensembl	human	known	69_37n	silent	194	12.22	27	SNP	1.000	C
FMNL3	91010	genome.wustl.edu	37	12	50047536	50047536	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:50047536A>C	ENST00000293590.5	-	12	1426	c.1193T>G	c.(1192-1194)gTg>gGg	p.V398G	FMNL3_ENST00000352151.5_Missense_Mutation_p.V347G|FMNL3_ENST00000335154.5_Missense_Mutation_p.V398G|FMNL3_ENST00000550488.1_Missense_Mutation_p.V398G			Q8IVF7	FMNL3_HUMAN	formin-like 3	398	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAACTCCTCCACCTTCTCCAG	0.527																																						dbGAP											0													236.0	244.0	241.0					12																	50047536		2075	4217	6292	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1193T>G	12.37:g.50047536A>C	ENSP00000293590:p.Val398Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.V398G	ENST00000293590.5	37	c.1193		12	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799142	0.90538	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.80764	0.994;0.985	D	0.94653	0.7841	10	0.62326	D	0.03	.	15.5289	0.75936	1.0:0.0:0.0:0.0	.	347;398	Q8IVF7-2;Q8IVF7-3	.;.	G	398;398;347;398	ENSP00000335655:V398G;ENSP00000447479:V398G;ENSP00000344311:V347G;ENSP00000293590:V398G	ENSP00000293590:V398G	V	-	2	0	FMNL3	48333803	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GTG	FMNL3	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000161791		0.527	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		190	0.52	1	A	NM_175736		50047536	50047536	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	95	21.49	26	SNP	1.000	C
FMNL3	91010	genome.wustl.edu	37	12	50055831	50055831	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:50055831A>C	ENST00000293590.5	-	5	603	c.370T>G	c.(370-372)Tgg>Ggg	p.W124G	FMNL3_ENST00000352151.5_Splice_Site_p.W124G|FMNL3_ENST00000335154.5_Splice_Site_p.W124G|FMNL3_ENST00000550488.1_Splice_Site_p.W124G			Q8IVF7	FMNL3_HUMAN	formin-like 3	124	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCCGCACCCACCTGCAGATA	0.532																																						dbGAP											0													78.0	78.0	78.0					12																	50055831		1919	4129	6048	-	-	-	SO:0001630	splice_region_variant	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.369-1T>G	12.37:g.50055831A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.W124G	ENST00000293590.5	37	c.370		12	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666802	0.47677	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	4.41	4.41	0.53225	.	0.074876	0.64402	D	0.000019	D	0.97359	0.9136	M	0.80847	2.515	0.80722	D	1	D;B	0.67145	0.996;0.001	D;B	0.75484	0.986;0.003	D	0.97905	1.0305	10	0.87932	D	0	.	13.0509	0.58954	1.0:0.0:0.0:0.0	.	124;124	Q8IVF7-2;Q8IVF7-3	.;.	G	124	ENSP00000335655:W124G;ENSP00000447479:W124G;ENSP00000344311:W124G;ENSP00000293590:W124G	ENSP00000293590:W124G	W	-	1	0	FMNL3	48342098	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.060000	0.93907	1.990000	0.58119	0.379000	0.24179	TGG	FMNL3	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000161791		0.532	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		180	0.00	0	A	NM_175736	Missense_Mutation	50055831	50055831	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	152	16.30	30	SNP	1.000	C
FMNL3	91010	genome.wustl.edu	37	12	50059977	50059977	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:50059977A>C	ENST00000293590.5	-	3	457	c.224T>G	c.(223-225)gTg>gGg	p.V75G	FMNL3_ENST00000352151.5_Missense_Mutation_p.V75G|FMNL3_ENST00000335154.5_Missense_Mutation_p.V75G|FMNL3_ENST00000550488.1_Missense_Mutation_p.V75G			Q8IVF7	FMNL3_HUMAN	formin-like 3	75	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AGGATTCTTCACCTGGAATCG	0.498																																						dbGAP											0													169.0	178.0	175.0					12																	50059977		1952	4126	6078	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.224T>G	12.37:g.50059977A>C	ENSP00000293590:p.Val75Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.V75G	ENST00000293590.5	37	c.224		12	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326084	0.81580	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590;ENST00000550424	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.3	4.92	4.92	0.64577	.	0.128109	0.51477	D	0.000094	D	0.94532	0.8239	M	0.87038	2.855	0.80722	D	1	D;B	0.76494	0.999;0.095	D;B	0.78314	0.991;0.023	D	0.94200	0.7449	10	0.38643	T	0.18	.	14.2442	0.65978	1.0:0.0:0.0:0.0	.	75;75	Q8IVF7-2;Q8IVF7-3	.;.	G	75;75;75;75;44	ENSP00000335655:V75G;ENSP00000447479:V75G;ENSP00000344311:V75G;ENSP00000293590:V75G;ENSP00000448939:V44G	ENSP00000293590:V75G	V	-	2	0	FMNL3	48346244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.094000	0.94168	2.152000	0.67230	0.528000	0.53228	GTG	FMNL3	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000161791		0.498	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		260	0.00	0	A	NM_175736		50059977	50059977	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	176	15.38	32	SNP	1.000	C
FN1	2335	genome.wustl.edu	37	2	216271893	216271893	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:216271893T>G	ENST00000359671.1	-	18	2935	c.2670A>C	c.(2668-2670)acA>acC	p.T890T	FN1_ENST00000354785.4_Silent_p.T890T|FN1_ENST00000323926.6_Silent_p.T890T|FN1_ENST00000432072.2_Silent_p.T890T|FN1_ENST00000356005.4_Silent_p.T890T|FN1_ENST00000443816.1_Silent_p.T890T|FN1_ENST00000336916.4_Silent_p.T890T|FN1_ENST00000346544.3_Silent_p.T890T|FN1_ENST00000357009.2_Silent_p.T890T|FN1_ENST00000421182.1_Silent_p.T890T|FN1_ENST00000345488.5_Silent_p.T890T|FN1_ENST00000357867.4_Silent_p.T890T|FN1_ENST00000446046.1_Silent_p.T890T			P02751	FINC_HUMAN	fibronectin 1	890	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGACAACAGGTGTACTTTCTT	0.423																																						dbGAP											0													170.0	163.0	165.0					2																	216271893		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2670A>C	2.37:g.216271893T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.T890	ENST00000359671.1	37	c.2670		2																																																																																			FN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.423	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		216	0.00	0	T	NM_212476		216271893	216271893	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	silent	153	12.00	21	SNP	0.056	G
FNBP4	23360	genome.wustl.edu	37	11	47746098	47746098	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:47746098A>C	ENST00000263773.5	-	13	2253	c.2241T>G	c.(2239-2241)agT>agG	p.S747R	snoU13_ENST00000516638.1_RNA|Y_RNA_ENST00000363220.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	747						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GGGGCTCCTCACTTCCCTCAT	0.552																																						dbGAP											0													147.0	149.0	149.0					11																	47746098		1940	4114	6054	-	-	-	SO:0001583	missense	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2241T>G	11.37:g.47746098A>C	ENSP00000263773:p.Ser747Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S747R	ENST00000263773.5	37	c.2241	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	a	13.57	2.275419	0.40294	.	.	ENSG00000109920	ENST00000263773	T	0.49432	0.78	5.25	4.11	0.48088	.	0.681226	0.16107	N	0.229272	T	0.35508	0.0934	L	0.40543	1.245	0.38176	D	0.939469	P	0.34780	0.468	B	0.29942	0.109	T	0.31752	-0.9932	10	0.59425	D	0.04	-4.6585	7.9939	0.30256	0.7166:0.0:0.2834:0.0	.	747	Q8N3X1	FNBP4_HUMAN	R	747	ENSP00000263773:S747R	ENSP00000263773:S747R	S	-	3	2	FNBP4	47702674	0.893000	0.30496	1.000000	0.80357	0.982000	0.71751	-0.016000	0.12613	0.951000	0.37770	0.459000	0.35465	AGT	FNBP4	-	NULL	ENSG00000109920		0.552	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	196	0.00	0	A			47746098	47746098	-1	no_errors	ENST00000263773	ensembl	human	known	69_37n	missense	288	10.77	35	SNP	0.860	C
FNBP4	23360	genome.wustl.edu	37	11	47754065	47754065	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:47754065T>G	ENST00000263773.5	-	11	1833				FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4							nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGGTGAAAGGTGAAAAGGGGA	0.498																																						dbGAP											0													237.0	238.0	238.0					11																	47754065		2065	4224	6289	-	-	-	SO:0001627	intron_variant	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1820+23A>C	11.37:g.47754065T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	RNA	SNP	-	NULL	ENST00000263773.5	37	NULL	CCDS41644.1	11																																																																																			FNBP4	-	-	ENSG00000109920		0.498	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	123	0.80	1	T			47754065	47754065	-1	no_errors	ENST00000527894	ensembl	human	known	69_37n	rna	160	18.37	36	SNP	1.000	G
FNDC1	84624	genome.wustl.edu	37	6	159646610	159646610	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:159646610T>G	ENST00000297267.9	+	8	1128	c.928T>G	c.(928-930)Tgg>Ggg	p.W310G	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.W310G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	310	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATTGGCCAGGTGGGATTATAA	0.458																																						dbGAP											0													257.0	256.0	256.0					6																	159646610		1971	4156	6127	-	-	-	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.928T>G	6.37:g.159646610T>G	ENSP00000297267:p.Trp310Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.W310G	ENST00000297267.9	37	c.928	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.77|18.77	3.694392|3.694392	0.68386|0.68386	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.58358	.|0.34;0.34	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69378|0.69378	0.3104|0.3104	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.74708|0.74708	-0.3574|-0.3574	5|10	.|0.72032	.|D	.|0.01	-15.9351|-15.9351	16.2108|16.2108	0.82158|0.82158	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|310;310	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	G|G	268|310	.|ENSP00000297267:W310G;ENSP00000342460:W310G	.|ENSP00000297267:W310G	V|W	+|+	2|1	0|0	FNDC1|FNDC1	159566598|159566598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.595000|7.595000	0.82710|0.82710	2.232000|2.232000	0.73038|0.73038	0.533000|0.533000	0.62120|0.62120	GTG|TGG	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.458	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	280	0.70	2	T	NM_032532		159646610	159646610	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	missense	204	16.73	41	SNP	1.000	G
FOXJ2	55810	genome.wustl.edu	37	12	8203186	8203186	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:8203186A>C	ENST00000162391.3	+	10	2751	c.1606A>C	c.(1606-1608)Acc>Ccc	p.T536P	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	536					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCCAATCCCCACCCAGGACTC	0.493																																						dbGAP											0													127.0	116.0	120.0					12																	8203186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1606A>C	12.37:g.8203186A>C	ENSP00000162391:p.Thr536Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T536P	ENST00000162391.3	37	c.1606	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520971	0.64747	.	.	ENSG00000065970	ENST00000162391	D	0.94576	-3.46	5.13	2.74	0.32292	.	0.501207	0.19370	N	0.115930	D	0.89935	0.6859	L	0.47716	1.5	0.80722	D	1	B	0.23058	0.079	B	0.25291	0.059	T	0.82983	-0.0186	10	0.45353	T	0.12	.	4.3693	0.11239	0.7344:0.0:0.0926:0.173	.	536	Q9P0K8	FOXJ2_HUMAN	P	536	ENSP00000162391:T536P	ENSP00000162391:T536P	T	+	1	0	FOXJ2	8094453	0.998000	0.40836	0.679000	0.29978	0.893000	0.52053	2.194000	0.42668	0.400000	0.25396	0.533000	0.62120	ACC	FOXJ2	-	NULL	ENSG00000065970		0.493	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	241	0.41	1	A	NM_018416		8203186	8203186	+1	no_errors	ENST00000162391	ensembl	human	known	69_37n	missense	248	13.89	40	SNP	0.865	C
FOXJ3	22887	genome.wustl.edu	37	1	42657008	42657008	+	Silent	SNP	T	T	G	rs372364680		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:42657008T>G	ENST00000372572.1	-	11	1628	c.1317A>C	c.(1315-1317)gcA>gcC	p.A439A	FOXJ3_ENST00000361776.1_Silent_p.A405A|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000361346.1_Silent_p.A439A|FOXJ3_ENST00000545068.1_Silent_p.A439A|FOXJ3_ENST00000372573.1_Silent_p.A439A	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	439					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGGTGGGGGTGCCTGATGTG	0.488																																						dbGAP											0													219.0	188.0	199.0					1																	42657008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1317A>C	1.37:g.42657008T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.A439	ENST00000372572.1	37	c.1317	CCDS30689.1	1																																																																																			FOXJ3	-	NULL	ENSG00000198815		0.488	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	166	0.00	0	T	NM_014947		42657008	42657008	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	silent	118	18.49	27	SNP	0.997	G
FOXJ3	22887	genome.wustl.edu	37	1	42657155	42657155	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:42657155T>G	ENST00000372572.1	-	11	1481	c.1170A>C	c.(1168-1170)ttA>ttC	p.L390F	FOXJ3_ENST00000361776.1_Missense_Mutation_p.L356F|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000361346.1_Missense_Mutation_p.L390F|FOXJ3_ENST00000545068.1_Missense_Mutation_p.L390F|FOXJ3_ENST00000372573.1_Missense_Mutation_p.L390F	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	390					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGCTGCGGTAAACCATGCG	0.592																																						dbGAP											0													407.0	315.0	346.0					1																	42657155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1170A>C	1.37:g.42657155T>G	ENSP00000361653:p.Leu390Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.L390F	ENST00000372572.1	37	c.1170	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157569	0.38119	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.31	4.1	0.47936	.	5.476830	0.00166	N	0.000000	T	0.37598	0.1009	N	0.08118	0	0.37972	D	0.933313	P;P	0.52061	0.95;0.917	P;B	0.46718	0.525;0.326	T	0.43972	-0.9358	10	0.23302	T	0.38	.	10.3383	0.43862	0.0:0.0:0.1647:0.8353	.	356;390	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	F	390;390;390;356;390;356	ENSP00000361654:L390F;ENSP00000361653:L390F;ENSP00000354620:L390F;ENSP00000354449:L356F;ENSP00000439044:L390F;ENSP00000393408:L356F	ENSP00000354620:L390F	L	-	3	2	FOXJ3	42429742	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.540000	0.45727	2.138000	0.66242	0.454000	0.30748	TTA	FOXJ3	-	NULL	ENSG00000198815		0.592	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	209	0.95	2	T	NM_014947		42657155	42657155	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	missense	146	15.61	27	SNP	1.000	G
FOXJ3	22887	genome.wustl.edu	37	1	42660734	42660734	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:42660734A>C	ENST00000372572.1	-	10	1072	c.761T>G	c.(760-762)gTg>gGg	p.V254G	FOXJ3_ENST00000361776.1_Splice_Site_p.V220G|FOXJ3_ENST00000361346.1_Splice_Site_p.V254G|FOXJ3_ENST00000545068.1_Splice_Site_p.V254G|FOXJ3_ENST00000372573.1_Splice_Site_p.V254G	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	254					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGGCTTGTCACCTAACATTA	0.348																																						dbGAP											0													142.0	144.0	143.0					1																	42660734		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.760-1T>G	1.37:g.42660734A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.V254G	ENST00000372572.1	37	c.761	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137384	0.56936	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000422278	D;D;D;D;D;D	0.94497	-3.36;-3.36;-3.36;-3.27;-3.36;-3.44	5.63	5.63	0.86233	.	0.304180	0.27420	N	0.019443	D	0.92404	0.7589	N	0.11927	0.2	0.80722	D	1	D;D	0.58620	0.983;0.979	P;P	0.61800	0.894;0.549	D	0.90483	0.4461	10	0.18276	T	0.48	.	13.784	0.63099	1.0:0.0:0.0:0.0	.	220;254	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	G	254;254;254;220;254;220;65	ENSP00000361654:V254G;ENSP00000361653:V254G;ENSP00000354620:V254G;ENSP00000354449:V220G;ENSP00000439044:V254G;ENSP00000393408:V220G	ENSP00000354620:V254G	V	-	2	0	FOXJ3	42433321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.268000	0.78473	2.141000	0.66446	0.533000	0.62120	GTG	FOXJ3	-	NULL	ENSG00000198815		0.348	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	416	0.00	0	A	NM_014947	Missense_Mutation	42660734	42660734	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	missense	209	11.06	26	SNP	1.000	C
FPGS	2356	genome.wustl.edu	37	9	130566833	130566833	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130566833T>G	ENST00000373247.2	+	3	371		c.e3+2		FPGS_ENST00000460181.1_Splice_Site|FPGS_ENST00000373225.3_Splice_Site|FPGS_ENST00000373245.1_Splice_Site|FPGS_ENST00000393706.2_Splice_Site	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase						brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	AAGGGGAAGGTGAGGGGCAGG	0.582																																						dbGAP											0													71.0	67.0	68.0					9																	130566833		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.321+2T>G	9.37:g.130566833T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Splice_Site	SNP	-	e3+2	ENST00000373247.2	37	c.321+2	CCDS35148.1	9	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926222	0.73327	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	.	.	.	5.13	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3013	0.37847	0.0:0.088:0.0:0.912	.	.	.	.	.	-1	.	.	.	+	.	.	FPGS	129606654	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	5.886000	0.69743	0.754000	0.32968	0.460000	0.39030	.	FPGS	-	-	ENSG00000136877		0.582	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	30	0.00	0	T		Intron	130566833	130566833	+1	no_errors	ENST00000373247	ensembl	human	known	69_37n	splice_site	28	15.15	5	SNP	1.000	G
FPR1	2357	genome.wustl.edu	37	19	52249649	52249649	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:52249649A>C	ENST00000595042.1	-	3	740	c.599T>G	c.(598-600)gTg>gGg	p.V200G	FPR1_ENST00000304748.4_Missense_Mutation_p.V200G	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	200					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGCCTCTCACCGTCAACAT	0.512																																						dbGAP											0													139.0	124.0	129.0					19																	52249649		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.599T>G	19.37:g.52249649A>C	ENSP00000471493:p.Val200Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.V200G	ENST00000595042.1	37	c.599	CCDS12839.1	19	.	.	.	.	.	.	.	.	.	.	.	11.83	1.755729	0.31046	.	.	ENSG00000171051	ENST00000304748	T	0.38401	1.14	3.66	0.798	0.18660	GPCR, rhodopsin-like superfamily (1);	0.678977	0.13150	N	0.409971	T	0.37320	0.0999	L	0.54863	1.705	0.19575	N	0.999963	B	0.33964	0.434	P	0.46208	0.507	T	0.38001	-0.9681	10	0.15952	T	0.53	.	5.9395	0.19186	0.5568:0.0:0.4432:0.0	.	200	P21462	FPR1_HUMAN	G	200	ENSP00000302707:V200G	ENSP00000302707:V200G	V	-	2	0	FPR1	56941461	0.209000	0.23505	0.014000	0.15608	0.038000	0.13279	0.570000	0.23653	0.229000	0.21039	0.533000	0.62120	GTG	FPR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_Anphylx_rcpt	ENSG00000171051		0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	195	0.51	1	A	NM_002029		52249649	52249649	-1	no_errors	ENST00000304748	ensembl	human	known	69_37n	missense	203	10.96	25	SNP	0.016	C
FPR2	2358	genome.wustl.edu	37	19	52272866	52272866	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:52272866A>C	ENST00000598776.1	+	2	1727	c.955A>C	c.(955-957)Acc>Ccc	p.T319P	FPR2_ENST00000598953.1_Missense_Mutation_p.T319P|FPR2_ENST00000340023.6_Missense_Mutation_p.T319P	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	319					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCCTGCCCACCAGTCTGGA	0.567																																						dbGAP											0													82.0	78.0	80.0					19																	52272866		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.955A>C	19.37:g.52272866A>C	ENSP00000468897:p.Thr319Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.T319P	ENST00000598776.1	37	c.955	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	6.762	0.509553	0.12883	.	.	ENSG00000171049	ENST00000340023	T	0.36157	1.27	3.96	-0.0164	0.13972	.	0.544122	0.16749	U	0.201138	T	0.24470	0.0593	L	0.40543	1.245	0.09310	N	1	B	0.31009	0.303	B	0.33254	0.16	T	0.20240	-1.0281	10	0.66056	D	0.02	.	2.673	0.05073	0.2677:0.0:0.3617:0.3706	.	319	P25090	FPR2_HUMAN	P	319	ENSP00000340191:T319P	ENSP00000340191:T319P	T	+	1	0	FPR2	56964678	0.000000	0.05858	0.089000	0.20774	0.142000	0.21351	0.134000	0.15932	-0.020000	0.14032	0.397000	0.26171	ACC	FPR2	-	prints_Frt_met_rcpt,prints_DEZorph_rcpt	ENSG00000171049		0.567	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	139	0.71	1	A	NM_001005738		52272866	52272866	+1	no_errors	ENST00000340023	ensembl	human	known	69_37n	missense	93	16.22	18	SNP	0.023	C
FPR3	2359	genome.wustl.edu	37	19	52327150	52327150	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:52327150T>G	ENST00000339223.4	+	2	328	c.149T>G	c.(148-150)gTg>gGg	p.V50G	FPR3_ENST00000595991.1_Missense_Mutation_p.V50G	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	50					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GTGATCTGGGTGGCTGGATTC	0.552																																						dbGAP											0													187.0	144.0	158.0					19																	52327150		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.149T>G	19.37:g.52327150T>G	ENSP00000341821:p.Val50Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.V50G	ENST00000339223.4	37	c.149	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178739	0.38511	.	.	ENSG00000187474	ENST00000339223	T	0.46451	0.87	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.66346	0.2780	M	0.91818	3.245	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	T	0.69569	-0.5110	10	0.87932	D	0	.	7.9475	0.29995	0.0:0.0:0.0:1.0	.	50	P25089	FPR3_HUMAN	G	50	ENSP00000341821:V50G	ENSP00000341821:V50G	V	+	2	0	FPR3	57018962	1.000000	0.71417	0.955000	0.39395	0.121000	0.20230	6.384000	0.73177	1.008000	0.39264	0.383000	0.25322	GTG	FPR3	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187474		0.552	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	HGNC	protein_coding	OTTHUMT00000466914.1	289	0.34	1	T	NM_002030		52327150	52327150	+1	no_errors	ENST00000339223	ensembl	human	known	69_37n	missense	233	10.73	28	SNP	1.000	G
FRAS1	80144	genome.wustl.edu	37	4	79173629	79173629	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:79173629A>C	ENST00000325942.6	+	5	833	c.393A>C	c.(391-393)ccA>ccC	p.P131P	FRAS1_ENST00000264899.6_Silent_p.P131P|FRAS1_ENST00000264895.6_Silent_p.P131P	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	131	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AACCATGCCCACCGCTGTCAT	0.557																																						dbGAP											0													93.0	94.0	94.0					4																	79173629		1942	4144	6086	-	-	-	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.393A>C	4.37:g.79173629A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_VWF_C,superfamily_Growth_fac_rcpt,smart_VWF_C,smart_VWC_out,smart_Furin_repeat,pfscan_VWF_C	p.H60P	ENST00000325942.6	37	c.179	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	A	5.100	0.204115	0.09704	.	.	ENSG00000138759	ENST00000502446	.	.	.	5.5	-2.96	0.05547	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.43160	D	0.99494	.	.	.	.	.	.	T	0.34576	-0.9823	4	.	.	.	.	1.0205	0.01516	0.2387:0.3433:0.2167:0.2012	.	.	.	.	P	60	.	.	H	+	2	0	FRAS1	79392653	0.001000	0.12720	0.213000	0.23690	0.000000	0.00434	-0.246000	0.08878	-0.385000	0.07833	-2.248000	0.00284	CAC	FRAS1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000138759		0.557	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	123	0.81	1	A			79173629	79173629	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000502446	ensembl	human	putative	69_37n	missense	58	26.58	21	SNP	0.024	C
FRAS1	80144	genome.wustl.edu	37	4	79343117	79343117	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:79343117A>C	ENST00000325942.6	+	34	5081	c.4641A>C	c.(4639-4641)gcA>gcC	p.A1547A	FRAS1_ENST00000264895.6_Silent_p.A1547A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1547					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCCGGCAGCACCCCACCTCC	0.572																																						dbGAP											0													124.0	137.0	132.0					4																	79343117		2054	4180	6234	-	-	-	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4641A>C	4.37:g.79343117A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.A1547	ENST00000325942.6	37	c.4641	CCDS54772.1	4																																																																																			FRAS1	-	NULL	ENSG00000138759		0.572	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	279	0.00	0	A			79343117	79343117	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	silent	220	15.06	39	SNP	0.138	C
FRAS1	80144	genome.wustl.edu	37	4	79403039	79403039	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:79403039A>C	ENST00000264895.6	+	57	8965	c.8525A>C	c.(8524-8526)gAc>gCc	p.D2842A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2838	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGCCCTCAGACCCAGCTTCT	0.512																																						dbGAP											0													148.0	153.0	151.0					4																	79403039		1952	4143	6095	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8525A>C	4.37:g.79403039A>C	ENSP00000264895:p.Asp2842Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.D2842A	ENST00000264895.6	37	c.8525	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.73|17.73	3.460512|3.460512	0.63513|0.63513	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.13420|.	2.59|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.167390|.	0.51477|.	D|.	0.000082|.	T|T	0.70971|0.70971	0.3285|0.3285	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P|.	0.41366|.	0.747|.	P|.	0.51582|.	0.674|.	T|T	0.69503|0.69503	-0.5128|-0.5128	10|5	0.72032|.	D|.	0.01|.	.|.	16.0041|16.0041	0.80344|0.80344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2842|.	E9PHH6|.	.|.	A|S	2842|1070	ENSP00000264895:D2842A|.	ENSP00000264895:D2842A|.	D|R	+|+	2|3	0|2	FRAS1|FRAS1	79622063|79622063	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.569000|0.569000	0.35902|0.35902	9.207000|9.207000	0.95064|0.95064	2.171000|2.171000	0.68590|0.68590	0.529000|0.529000	0.55759|0.55759	GAC|AGA	FRAS1	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000138759		0.512	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		283	0.35	1	A			79403039	79403039	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	221	11.16	28	SNP	1.000	C
FRAS1	80144	genome.wustl.edu	37	4	79462124	79462124	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:79462124T>G	ENST00000264895.6	+	74	12325	c.11885T>G	c.(11884-11886)gTg>gGg	p.V3962G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3958					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGGACCGGGTGGAGAAGAAC	0.498																																						dbGAP											0													78.0	80.0	80.0					4																	79462124		1909	4124	6033	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11885T>G	4.37:g.79462124T>G	ENSP00000264895:p.Val3962Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.V3962G	ENST00000264895.6	37	c.11885	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	T	1.027	-0.683129	0.03353	.	.	ENSG00000138759	ENST00000264895	T	0.48836	0.8	6.08	3.48	0.39840	.	0.771265	0.12150	N	0.494989	T	0.23492	0.0568	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07654	-1.0761	10	0.14656	T	0.56	.	5.9955	0.19491	0.0:0.128:0.4641:0.4079	.	3962	E9PHH6	.	G	3962	ENSP00000264895:V3962G	ENSP00000264895:V3962G	V	+	2	0	FRAS1	79681148	0.999000	0.42202	0.999000	0.59377	0.051000	0.14879	1.305000	0.33493	1.087000	0.41251	0.482000	0.46254	GTG	FRAS1	-	NULL	ENSG00000138759		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		86	0.00	0	T			79462124	79462124	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	0.998	G
FREM1	158326	genome.wustl.edu	37	9	14775942	14775942	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:14775942T>G	ENST00000380880.3	-	25	5485	c.4702A>C	c.(4702-4704)Acc>Ccc	p.T1568P	FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000422223.2_Missense_Mutation_p.T1568P|FREM1_ENST00000380894.1_Missense_Mutation_p.T104P|FREM1_ENST00000380881.4_Missense_Mutation_p.T1569P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1568					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCCTGCTGGGTGAAATTGTGT	0.557																																						dbGAP											0													166.0	163.0	164.0					9																	14775942		2019	4196	6215	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4702A>C	9.37:g.14775942T>G	ENSP00000370262:p.Thr1568Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.T1569P	ENST00000380880.3	37	c.4705	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662232	0.67700	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.92649	3.33	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.953	D	0.87135	0.2199	10	0.62326	D	0.03	-17.9689	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1568;104	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	P	1569;1568;104;1568	ENSP00000370263:T1569P;ENSP00000412940:T1568P;ENSP00000370278:T104P;ENSP00000370262:T1568P	ENSP00000370262:T1568P	T	-	1	0	FREM1	14765942	1.000000	0.71417	0.953000	0.39169	0.170000	0.22686	5.700000	0.68318	2.371000	0.80710	0.533000	0.62120	ACC	FREM1	-	NULL	ENSG00000164946		0.557	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	204	0.00	0	T	NM_144966		14775942	14775942	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	186	14.61	32	SNP	1.000	G
FRK	2444	genome.wustl.edu	37	6	116381277	116381277	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:116381277A>C	ENST00000606080.1	-	1	644	c.198T>G	c.(196-198)ggT>ggG	p.G66G		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	66	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GAAGTTTGTCACCTGCTCGGA	0.522																																						dbGAP											0													127.0	127.0	127.0					6																	116381277		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.198T>G	6.37:g.116381277A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY49|Q13128|Q9NTR5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.G66	ENST00000606080.1	37	c.198	CCDS5103.1	6																																																																																			FRK	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain	ENSG00000111816		0.522	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	297	0.00	0	A	NM_002031		116381277	116381277	-1	no_errors	ENST00000368626	ensembl	human	known	69_37n	silent	275	13.21	42	SNP	0.964	C
FRMD6	122786	genome.wustl.edu	37	14	52194586	52194586	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:52194586A>C	ENST00000344768.5	+	14	1904	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	FRMD6_ENST00000553556.1_Missense_Mutation_p.T212P|FRMD6_ENST00000395718.2_Missense_Mutation_p.T562P|FRMD6_ENST00000554167.1_Missense_Mutation_p.T493P|FRMD6_ENST00000356218.4_Missense_Mutation_p.T562P			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	570					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TCAGAGTTACACCTTTGGATG	0.498																																						dbGAP											0													135.0	106.0	116.0					14																	52194586		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1708A>C	14.37:g.52194586A>C	ENSP00000343899:p.Thr570Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.T570P	ENST00000344768.5	37	c.1708	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752797	0.89753	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	D;D;D;D	0.85955	-2.05;-2.05;-1.82;-1.65	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	L	0.55481	1.735	0.80722	D	1	P;D;D	0.89917	0.947;0.999;1.0	P;D;D	0.76575	0.722;0.942;0.988	D	0.91395	0.5138	10	0.87932	D	0	.	16.1099	0.81255	1.0:0.0:0.0:0.0	.	493;570;562	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	P	562;562;570;493;212	ENSP00000348550:T562P;ENSP00000379068:T562P;ENSP00000343899:T570P;ENSP00000451977:T493P	ENSP00000343899:T570P	T	+	1	0	FRMD6	51264336	1.000000	0.71417	0.716000	0.30569	0.978000	0.69477	9.339000	0.96797	2.285000	0.76669	0.533000	0.62120	ACC	FRMD6	-	NULL	ENSG00000139926		0.498	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	97	0.00	0	A	NM_152330		52194586	52194586	+1	no_errors	ENST00000344768	ensembl	human	known	69_37n	missense	94	16.07	18	SNP	1.000	C
FRMPD2	143162	genome.wustl.edu	37	10	49389050	49389050	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:49389050A>C	ENST00000374201.3	-	21	2888	c.2586T>G	c.(2584-2586)ggT>ggG	p.G862G	FRMPD2_ENST00000305531.3_Splice_Site_p.G837G|FRMPD2_ENST00000407470.4_Splice_Site_p.G830G|FRMPD2_ENST00000463706.1_5'Flank	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	862					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTCCACCAACACCTATAAAAA	0.458																																						dbGAP											0													10.0	11.0	11.0					10																	49389050		2108	4098	6206	-	-	-	SO:0001630	splice_region_variant	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2585-1T>G	10.37:g.49389050A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.G862	ENST00000374201.3	37	c.2586	CCDS31195.1	10																																																																																			FRMPD2	-	superfamily_PDZ	ENSG00000170324		0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	40	0.00	0	A	NM_152428	Silent	49389050	49389050	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	silent	34	20.93	9	SNP	0.773	C
FRMPD4	9758	genome.wustl.edu	37	X	12627996	12627996	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:12627996A>C	ENST00000380682.1	+	3	821	c.315A>C	c.(313-315)acA>acC	p.T105T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	105	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTCAGTAACACCAGGTAAGC	0.527																																						dbGAP											0													112.0	92.0	99.0					X																	12627996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.315A>C	X.37:g.12627996A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.T105	ENST00000380682.1	37	c.315	CCDS35201.1	X																																																																																			FRMPD4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000169933		0.527	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	99	1.00	1	A	XM_045712		12627996	12627996	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	silent	73	21.51	20	SNP	0.998	C
FRMPD4	9758	genome.wustl.edu	37	X	12734317	12734317	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:12734317T>G	ENST00000380682.1	+	15	2245	c.1739T>G	c.(1738-1740)gTg>gGg	p.V580G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	580					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGAAGACGGTGGAGATCACA	0.483																																						dbGAP											0													126.0	112.0	117.0					X																	12734317		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1739T>G	X.37:g.12734317T>G	ENSP00000370057:p.Val580Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.V580G	ENST00000380682.1	37	c.1739	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347137	0.24426	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.28255	1.62	5.47	4.32	0.51571	.	0.478151	0.22183	N	0.063473	T	0.23649	0.0572	L	0.51422	1.61	0.22412	N	0.999125	B;B	0.13145	0.002;0.007	B;B	0.08055	0.003;0.003	T	0.15636	-1.0430	10	0.15952	T	0.53	.	7.5432	0.27751	0.0:0.1633:0.0:0.8367	.	572;580	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	G	580;571;569	ENSP00000370057:V580G	ENSP00000304583:V569G	V	+	2	0	FRMPD4	12644238	0.001000	0.12720	0.029000	0.17559	0.856000	0.48823	0.974000	0.29436	1.835000	0.53391	0.430000	0.28490	GTG	FRMPD4	-	NULL	ENSG00000169933		0.483	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	300	0.00	0	T	XM_045712		12734317	12734317	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	240	10.11	27	SNP	0.152	G
FRMPD4	9758	genome.wustl.edu	37	X	12735141	12735141	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:12735141A>C	ENST00000380682.1	+	15	3069	c.2563A>C	c.(2563-2565)Acc>Ccc	p.T855P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	855					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGCTGTGCCCACCAGCGCCGA	0.582																																						dbGAP											0													99.0	91.0	94.0					X																	12735141		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2563A>C	X.37:g.12735141A>C	ENSP00000370057:p.Thr855Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.T855P	ENST00000380682.1	37	c.2563	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610681	0.46527	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.11604	2.76	5.15	2.7	0.31948	.	0.104565	0.64402	D	0.000006	T	0.27241	0.0668	M	0.77103	2.36	0.31465	N	0.66911	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.19321	-1.0309	10	0.59425	D	0.04	.	6.625	0.22824	0.7849:0.0:0.0763:0.1388	.	847;855	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	P	855;846;844	ENSP00000370057:T855P	ENSP00000304583:T844P	T	+	1	0	FRMPD4	12645062	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.891000	0.75639	0.226000	0.20979	-0.391000	0.06502	ACC	FRMPD4	-	NULL	ENSG00000169933		0.582	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	167	0.60	1	A	XM_045712		12735141	12735141	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	177	14.08	29	SNP	1.000	C
FRMPD3	84443	genome.wustl.edu	37	X	106844936	106844936	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:106844936A>C	ENST00000276185.4	+	16	3766	c.3766A>C	c.(3766-3768)Acc>Ccc	p.T1256P				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1256						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATTCTCTGCCACCTTCCCAAC	0.532																																						dbGAP											0													81.0	79.0	79.0					X																	106844936		876	1991	2867	-	-	-	SO:0001583	missense	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3766A>C	X.37:g.106844936A>C	ENSP00000276185:p.Thr1256Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.T1256P	ENST00000276185.4	37	c.3766		X	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142909	0.57044	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.31769	1.48;1.5	3.63	3.63	0.41609	.	0.379656	0.25771	N	0.028416	T	0.27559	0.0677	L	0.27053	0.805	0.29879	N	0.826201	.	.	.	.	.	.	T	0.18272	-1.0342	8	0.56958	D	0.05	.	10.8943	0.47012	1.0:0.0:0.0:0.0	.	.	.	.	P	1256;1204	ENSP00000276185:T1256P;ENSP00000398668:T1204P	ENSP00000276185:T1256P	T	+	1	0	FRMPD3	106731592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.606000	0.90888	1.345000	0.45676	0.356000	0.21956	ACC	FRMPD3	-	NULL	ENSG00000147234		0.532	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		100	0.99	1	A	XM_042978		106844936	106844936	+1	no_errors	ENST00000276185	ensembl	human	known	69_37n	missense	42	15.69	8	SNP	1.000	C
FSHR	2492	genome.wustl.edu	37	2	49190419	49190419	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:49190419A>C	ENST00000406846.2	-	10	1660	c.1541T>G	c.(1540-1542)gTg>gGg	p.V514G	FSHR_ENST00000304421.4_Missense_Mutation_p.V488G|FSHR_ENST00000541117.1_Missense_Mutation_p.V250G|FSHR_ENST00000346173.3_Missense_Mutation_p.V452G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	514					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GCAGATGCTCACCTTCATGTA	0.532									Gonadal Dysgenesis, 46 XX																													dbGAP											0													114.0	88.0	97.0					2																	49190419		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1541T>G	2.37:g.49190419A>C	ENSP00000384708:p.Val514Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.V514G	ENST00000406846.2	37	c.1541	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957149	0.53293	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.35	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.129455	0.53938	D	0.000060	D	0.86356	0.5913	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.88354	0.2983	9	.	.	.	.	11.3492	0.49577	0.8642:0.0:0.0:0.1358	.	488;452;514	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	G	514;452;488;250	ENSP00000384708:V514G;ENSP00000333908:V452G;ENSP00000306780:V488G;ENSP00000444172:V250G	.	V	-	2	0	FSHR	49043923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.809000	0.69172	1.133000	0.42147	0.533000	0.62120	GTG	FSHR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt	ENSG00000170820		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	134	0.74	1	A			49190419	49190419	-1	no_errors	ENST00000406846	ensembl	human	known	69_37n	missense	65	14.47	11	SNP	1.000	C
DDX42	11325	genome.wustl.edu	37	17	61897288	61897288	+	IGR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:61897288A>C	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.G806G	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGCGGCCCACACCTTTTTTGG	0.537																																						dbGAP											0													156.0	145.0	148.0					17																	61897288		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897288A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.G806	ENST00000578681.1	37	c.2418	CCDS32704.1	17																																																																																			FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_C	ENSG00000108592		0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	295	0.34	1	A	NM_007372		61897288	61897288	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	silent	295	14.66	51	SNP	0.994	C
FUT1	2523	genome.wustl.edu	37	19	49253970	49253970	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:49253970T>G	ENST00000310160.3	-	4	1543	c.569A>C	c.(568-570)cAc>cCc	p.H190P	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	190					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TTCCCGAAGGTGGTCGTGCAG	0.637																																						dbGAP											0													119.0	123.0	121.0					19																	49253970		2200	4294	6494	-	-	-	SO:0001583	missense	0				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.569A>C	19.37:g.49253970T>G	ENSP00000312021:p.His190Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.H190P	ENST00000310160.3	37	c.569	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496261	0.26861	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96802	-4.13	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000035	D	0.95095	0.8411	M	0.76574	2.34	0.26270	N	0.978431	B	0.16802	0.019	B	0.18871	0.023	D	0.90522	0.4489	10	0.62326	D	0.03	-4.4675	12.1551	0.54072	0.0:0.0:0.0:1.0	.	190	P19526	FUT1_HUMAN	P	190;180	ENSP00000312021:H190P	ENSP00000312021:H190P	H	-	2	0	FUT1	53945782	0.920000	0.31207	0.062000	0.19696	0.381000	0.30169	2.167000	0.42415	2.051000	0.60960	0.460000	0.39030	CAC	FUT1	-	pfam_Glyco_trans_11	ENSG00000174951		0.637	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1	55	0.00	0	T	NM_000148		49253970	49253970	-1	no_errors	ENST00000310160	ensembl	human	known	69_37n	missense	46	21.67	13	SNP	0.290	G
FUT8	2530	genome.wustl.edu	37	14	66188494	66188494	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:66188494T>G	ENST00000360689.5	+	8	2564	c.837T>G	c.(835-837)ggT>ggG	p.G279G	FUT8_ENST00000394586.2_Splice_Site_p.G279G|FUT8_ENST00000358307.2_Splice_Site_p.G150G|FUT8_ENST00000394585.1_Splice_Site_p.G279G|FUT8_ENST00000557164.1_Splice_Site_p.G116G|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000554765.1_3'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	279	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TATTGTCAGGTGAAGTGAAGG	0.418																																						dbGAP											0													141.0	140.0	140.0					14																	66188494		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.836-1T>G	14.37:g.66188494T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.G279	ENST00000360689.5	37	c.837	CCDS9775.1	14																																																																																			FUT8	-	pirsf_Alpha1_6FUT_euk	ENSG00000033170		0.418	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	161	0.00	0	T	NM_004480	Silent	66188494	66188494	+1	no_errors	ENST00000360689	ensembl	human	known	69_37n	silent	76	20.83	20	SNP	1.000	G
G3BP1	10146	genome.wustl.edu	37	5	151179830	151179830	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:151179830A>C	ENST00000394123.3	+	10	1152	c.1007A>C	c.(1006-1008)cAc>cCc	p.H336P	G3BP1_ENST00000543466.1_Missense_Mutation_p.H154P|G3BP1_ENST00000356245.3_Missense_Mutation_p.H336P			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	336					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATGGTGAGACACCCTGACAGT	0.423																																						dbGAP											0													131.0	121.0	124.0					5																	151179830		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1007A>C	5.37:g.151179830A>C	ENSP00000377681:p.His336Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYE9	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.H336P	ENST00000394123.3	37	c.1007	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748097	0.69533	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.72394	-0.63;-0.65;-0.63	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);	0.049856	0.85682	D	0.000000	T	0.55545	0.1927	N	0.11927	0.2	0.45594	D	0.998538	P	0.39624	0.681	B	0.37650	0.255	T	0.64546	-0.6382	10	0.72032	D	0.01	-28.8501	15.5341	0.75990	1.0:0.0:0.0:0.0	.	336	Q13283	G3BP1_HUMAN	P	336;154;336;178	ENSP00000377681:H336P;ENSP00000445035:H154P;ENSP00000348578:H336P	ENSP00000274596:H178P	H	+	2	0	G3BP1	151160023	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.834000	0.55798	2.127000	0.65507	0.528000	0.53228	CAC	G3BP1	-	NULL	ENSG00000145907		0.423	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	198	0.00	0	A	NM_005754		151179830	151179830	+1	no_errors	ENST00000356245	ensembl	human	known	69_37n	missense	212	13.06	32	SNP	1.000	C
GAB1	2549	genome.wustl.edu	37	4	144361462	144361462	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:144361462T>C	ENST00000262994.4	+	6	1814	c.1512T>C	c.(1510-1512)ccT>ccC	p.P504P	GAB1_ENST00000505913.1_Silent_p.P401P|GAB1_ENST00000262995.4_Silent_p.P504P	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	504	Pro-rich.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CAAAAACCCCTCCCAGAAGGC	0.493																																						dbGAP											0													75.0	72.0	73.0					4																	144361462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1512T>C	4.37:g.144361462T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K152|Q4W5G2|Q6P1W2	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P504	ENST00000262994.4	37	c.1512	CCDS3759.1	4																																																																																			GAB1	-	NULL	ENSG00000109458		0.493	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	212	0.46	1	T	NM_002039		144361462	144361462	+1	no_errors	ENST00000262995	ensembl	human	known	69_37n	silent	180	12.92	27	SNP	1.000	C
GAB2	9846	genome.wustl.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582																																						dbGAP											0													44.0	51.0	49.0					11																	77937662		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1056A>C	11.37:g.77937662T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P352	ENST00000361507.4	37	c.1056	CCDS8259.1	11																																																																																			GAB2	-	NULL	ENSG00000033327		0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1	52	0.00	0	T	NM_080491		77937662	77937662	-1	no_errors	ENST00000361507	ensembl	human	known	69_37n	silent	305	15.89	58	SNP	0.999	G
GABRE	2564	genome.wustl.edu	37	X	151124004	151124004	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151124004T>G	ENST00000370328.3	-	8	1026	c.973A>C	c.(973-975)Acc>Ccc	p.T325P	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.T325P|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	325					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAGAAAAGGTGCCCAACGTG	0.498																																						dbGAP											0													117.0	100.0	106.0					X																	151124004		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.973A>C	X.37:g.151124004T>G	ENSP00000359353:p.Thr325Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.T325P	ENST00000370328.3	37	c.973	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570507	0.45798	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.86366	-2.11;-2.11	5.93	3.47	0.39725	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.92401	0.7588	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.90879	0.4752	10	0.72032	D	0.01	.	9.001	0.36081	0.2996:0.0:0.0:0.7004	.	325	P78334	GBRE_HUMAN	P	325	ENSP00000359353:T325P;ENSP00000359350:T325P	ENSP00000359350:T325P	T	-	1	0	GABRE	150874660	1.000000	0.71417	0.437000	0.26809	0.116000	0.19942	4.142000	0.58044	0.300000	0.22699	-0.391000	0.06502	ACC	GABRE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000102287		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	198	0.50	1	T	NM_004961, NM_021990, NM_021984		151124004	151124004	-1	no_errors	ENST00000370328	ensembl	human	known	69_37n	missense	223	11.81	30	SNP	1.000	G
GABRQ	55879	genome.wustl.edu	37	X	151808886	151808886	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151808886T>G	ENST00000370306.2	+	2	217	c.197T>G	c.(196-198)gTg>gGg	p.V66G		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	66					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGGACAGGGTGCTGTCAAGA	0.473																																						dbGAP											0													182.0	159.0	167.0					X																	151808886		2203	4300	6503	-	-	-	SO:0001583	missense	0			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.197T>G	X.37:g.151808886T>G	ENSP00000359329:p.Val66Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V66G	ENST00000370306.2	37	c.197	CCDS14707.1	X	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876790	0.72180	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.79940	-1.32	4.45	4.45	0.53987	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.35495	N	0.003176	D	0.84370	0.5457	L	0.47716	1.5	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	D	0.84932	0.0860	10	0.72032	D	0.01	.	9.0255	0.36227	0.0:0.0:0.0:1.0	.	66	Q9UN88	GBRT_HUMAN	G	66;61	ENSP00000359329:V66G	ENSP00000331410:V61G	V	+	2	0	GABRQ	151559542	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.276000	0.51646	1.648000	0.50643	0.430000	0.28490	GTG	GABRQ	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000147402		0.473	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	201	0.50	1	T	NM_018558		151808886	151808886	+1	no_errors	ENST00000370306	ensembl	human	known	69_37n	missense	111	11.20	14	SNP	1.000	G
GABRR1	2569	genome.wustl.edu	37	6	89907847	89907847	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:89907847A>C	ENST00000454853.2	-	5	574	c.464T>G	c.(463-465)gTc>gGc	p.V155G	GABRR1_ENST00000369451.3_Missense_Mutation_p.V68G|GABRR1_ENST00000435811.1_Missense_Mutation_p.V138G	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	155					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CATGTCAGGGACCCAGATCTT	0.537																																						dbGAP											0													344.0	307.0	319.0					6																	89907847		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.464T>G	6.37:g.89907847A>C	ENSP00000412673:p.Val155Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.V155G	ENST00000454853.2	37	c.464	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	A	32	5.114472	0.94339	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.80480	-1.38;-1.38;-1.38	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	M	0.91196	3.185	0.80722	D	1	P;D	0.76494	0.757;0.999	P;D	0.78314	0.764;0.991	D	0.92408	0.5935	9	.	.	.	-37.3003	16.2013	0.82084	1.0:0.0:0.0:0.0	.	138;155	P24046-2;P24046	.;GBRR1_HUMAN	G	155;138;68;68	ENSP00000412673:V155G;ENSP00000394687:V138G;ENSP00000358463:V68G	.	V	-	2	0	GABRR1	89964566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.215000	0.95146	2.227000	0.72691	0.459000	0.35465	GTC	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000146276		0.537	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	446	0.45	2	A			89907847	89907847	-1	no_errors	ENST00000454853	ensembl	human	known	69_37n	missense	250	10.56	30	SNP	1.000	C
GAGE2C	2574	genome.wustl.edu	37	X	49230849	49230849	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:49230849T>G	ENST00000381708.1	+	4	325	c.253T>G	c.(253-255)Tgt>Ggt	p.C85G		NM_001472.2	NP_001463.1	Q13066	GAG2B_HUMAN	G antigen 2C	85																	ACAGACTGGGTGTGAGTGTGA	0.463																																						dbGAP											0													1.0	1.0	1.0					X																	49230849		417	363	780	-	-	-	SO:0001583	missense	0					Xp11.23	2012-10-02			ENSG00000236249				31958	protein-coding gene	gene with protein product		300595					Standard	NM_001472		Approved		uc004dno.4	Q13066	OTTHUMG00000067392	ENST00000381708.1:c.253T>G	X.37:g.49230849T>G	ENSP00000371127:p.Cys85Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9K0W9|Q4V322	Missense_Mutation	SNP	pfam_GAGE	p.C85G	ENST00000381708.1	37	c.253	CCDS35260.1	X	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.202721	0.00296	.	.	ENSG00000236249	ENST00000381708	T	0.09350	2.99	1.06	-1.81	0.07882	.	.	.	.	.	T	0.07324	0.0185	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.44159	-0.9346	7	0.11794	T	0.64	.	4.1309	0.10149	0.0:0.4758:0.0:0.5242	.	.	.	.	G	85	ENSP00000371127:C85G	ENSP00000371127:C85G	C	+	1	0	GAGE2C	49117793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.934000	0.03955	-0.650000	0.05423	0.143000	0.16000	TGT	GAGE2C	-	pfam_GAGE	ENSG00000236249		0.463	GAGE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE2C	HGNC	protein_coding	OTTHUMT00000144211.1	324	0.31	1	T	NM_001472		49230849	49230849	+1	no_errors	ENST00000381708	ensembl	human	known	69_37n	missense	297	25.75	103	SNP	0.000	G
GALC	2581	genome.wustl.edu	37	14	88407818	88407818	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:88407818A>C	ENST00000261304.2	-	15	1861	c.1755T>G	c.(1753-1755)ggT>ggG	p.G585G	GALC_ENST00000393569.2_Silent_p.G559G|GALC_ENST00000544807.2_Silent_p.G529G|GALC_ENST00000393568.4_Silent_p.G562G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	585					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAAAATACCACCTTTATTTA	0.368																																						dbGAP											0													169.0	162.0	164.0					14																	88407818		1820	4070	5890	-	-	-	SO:0001819	synonymous_variant	0			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1755T>G	14.37:g.88407818A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59	p.G585	ENST00000261304.2	37	c.1755	CCDS9878.2	14																																																																																			GALC	-	pfam_Glyco_hydro_59,prints_Glyco_hydro_59	ENSG00000054983		0.368	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	HGNC	protein_coding	OTTHUMT00000071559.2	486	0.00	0	A			88407818	88407818	-1	no_errors	ENST00000261304	ensembl	human	known	69_37n	silent	378	11.68	50	SNP	0.970	C
GALNT10	55568	genome.wustl.edu	37	5	153796449	153796449	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:153796449A>C	ENST00000297107.6	+	12	1866	c.1729A>C	c.(1729-1731)Acc>Ccc	p.T577P	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.T250P|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.T515P	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	577	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTTCATGAACACCTGCAACCC	0.493																																						dbGAP											0													168.0	147.0	154.0					5																	153796449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1729A>C	5.37:g.153796449A>C	ENSP00000297107:p.Thr577Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T577P	ENST00000297107.6	37	c.1729	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644488	0.29246	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27104	1.69;1.69;1.69	5.76	0.616	0.17613	Ricin B-related lectin (1);Ricin B lectin (3);	0.310944	0.39146	N	0.001458	T	0.13586	0.0329	N	0.26130	0.795	0.35951	D	0.833925	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.32508	-0.9904	10	0.08179	T	0.78	.	9.2859	0.37758	0.7127:0.0:0.2873:0.0	.	515;248;577	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	P	577;515;250	ENSP00000297107:T577P;ENSP00000366889:T515P;ENSP00000366885:T250P	ENSP00000297107:T577P	T	+	1	0	GALNT10	153776642	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.118000	0.41949	-0.113000	0.11958	-0.408000	0.06270	ACC	GALNT10	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000164574		0.493	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	118	0.84	1	A	NM_198321		153796449	153796449	+1	no_errors	ENST00000297107	ensembl	human	known	69_37n	missense	90	18.18	20	SNP	0.999	C
GALNT14	79623	genome.wustl.edu	37	2	31165080	31165080	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:31165080A>C	ENST00000349752.5	-	9	1557	c.918T>G	c.(916-918)ggT>ggG	p.G306G	GALNT14_ENST00000324589.5_Silent_p.G311G|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.G273G|GALNT14_ENST00000406653.1_Silent_p.G286G|GALNT14_ENST00000420311.2_Silent_p.G271G	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	306	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTTCTCCCCACCCCAGATGT	0.512																																						dbGAP											0													135.0	123.0	127.0					2																	31165080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.918T>G	2.37:g.31165080A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G306	ENST00000349752.5	37	c.918	CCDS1773.2	2																																																																																			GALNT14	-	NULL	ENSG00000158089		0.512	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	131	0.76	1	A	NM_024572		31165080	31165080	-1	no_errors	ENST00000349752	ensembl	human	known	69_37n	silent	91	15.74	17	SNP	0.336	C
GALNT4	8693	genome.wustl.edu	37	12	89917263	89917263	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:89917263T>G	ENST00000529983.2	-	1	1320	c.1064A>C	c.(1063-1065)cAc>cCc	p.H355P	POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.H183P|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.H352P	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	355	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GGAACACGGGTGGATCTCCAA	0.532																																						dbGAP											0													123.0	125.0	124.0					12																	89917263		2037	4204	6241	-	-	-	SO:0001583	missense	0			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1064A>C	12.37:g.89917263T>G	ENSP00000436604:p.His355Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H355P	ENST00000529983.2	37	c.1064	CCDS53817.1	12	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521385	0.64747	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.62788	0.0;0.0;0.0	5.75	4.54	0.55810	.	.	.	.	.	T	0.74145	0.3678	M	0.78637	2.42	0.46774	D	0.999193	P;P	0.52170	0.951;0.919	P;P	0.58873	0.847;0.707	T	0.76372	-0.2983	9	0.52906	T	0.07	.	11.095	0.48139	0.1384:0.0:0.0:0.8616	.	352;355	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	P	352;183;355	ENSP00000447852:H352P;ENSP00000389686:H183P;ENSP00000436604:H355P	ENSP00000436604:H355P	H	-	2	0	GALNT4;RP11-1109F11.4	88441394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.157000	0.71846	2.193000	0.70182	0.477000	0.44152	CAC	GALNT4	-	NULL	ENSG00000257594		0.532	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT4	HGNC	protein_coding	OTTHUMT00000388973.2	151	0.66	1	T	NM_003774		89917263	89917263	-1	no_errors	ENST00000529983	ensembl	human	known	69_37n	missense	95	18.49	22	SNP	1.000	G
GALNT16	57452	genome.wustl.edu	37	14	69791485	69791485	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:69791485A>C	ENST00000337827.4	+	3	739	c.412A>C	c.(412-414)Acc>Ccc	p.T138P	GALNT16_ENST00000553669.1_Missense_Mutation_p.T138P|GALNT16_ENST00000448469.3_Missense_Mutation_p.T138P	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	138	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGCCCGTTCCACCCTGCTGCG	0.602																																						dbGAP											0													119.0	87.0	98.0					14																	69791485		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.412A>C	14.37:g.69791485A>C	ENSP00000336729:p.Thr138Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T138P	ENST00000337827.4	37	c.412	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581439	0.86748	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.60548	0.18;0.18;0.18	5.93	4.79	0.61399	Glycosyl transferase, family 2 (1);	0.088837	0.85682	D	0.000000	T	0.76062	0.3935	M	0.87682	2.9	0.80722	D	1	D;D	0.69078	0.997;0.997	P;D	0.68039	0.898;0.955	T	0.79019	-0.1974	10	0.87932	D	0	.	10.3783	0.44096	0.865:0.0:0.135:0.0	.	138;138	Q8N428;Q58A55	GLTL1_HUMAN;.	P	138	ENSP00000336729:T138P;ENSP00000402970:T138P;ENSP00000451200:T138P	ENSP00000336729:T138P	T	+	1	0	GALNTL1	68861238	1.000000	0.71417	0.963000	0.40424	0.922000	0.55478	7.157000	0.77461	1.082000	0.41137	0.533000	0.62120	ACC	GALNTL1	-	pfam_Glyco_trans_2	ENSG00000100626		0.602	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL1	HGNC	protein_coding	OTTHUMT00000412434.1	30	0.00	0	A	NM_001168368		69791485	69791485	+1	no_errors	ENST00000337827	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	1.000	C
GANAB	23193	genome.wustl.edu	37	11	62393587	62393587	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62393587A>C	ENST00000356638.3	-	23	2691	c.2675T>G	c.(2674-2676)gTg>gGg	p.V892G	GANAB_ENST00000540933.1_Missense_Mutation_p.V795G|GANAB_ENST00000534779.1_Missense_Mutation_p.V800G|GANAB_ENST00000346178.4_Missense_Mutation_p.V914G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	892					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TATTATCACCACCCGCTCAAT	0.537																																					Melanoma(23;1005 1074 15747 18937)	dbGAP											0													212.0	209.0	210.0					11																	62393587		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2675T>G	11.37:g.62393587A>C	ENSP00000349053:p.Val892Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.V914G	ENST00000356638.3	37	c.2741	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625432	0.66901	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91464	-2.78;-2.72;-2.85;-2.77	4.53	4.53	0.55603	.	0.264249	0.33161	N	0.005207	D	0.94991	0.8379	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.65815	0.992;0.992;0.992;0.995	D;D;D;D	0.70716	0.934;0.934;0.934;0.97	D	0.95429	0.8514	10	0.87932	D	0	-12.5551	11.8584	0.52451	1.0:0.0:0.0:0.0	.	778;800;892;914	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	G	914;892;800;795	ENSP00000340466:V914G;ENSP00000349053:V892G;ENSP00000435306:V800G;ENSP00000442962:V795G	ENSP00000340466:V914G	V	-	2	0	GANAB	62150163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	1.893000	0.54813	0.496000	0.49642	GTG	GANAB	-	NULL	ENSG00000089597		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	374	0.53	2	A	NM_198334		62393587	62393587	-1	no_errors	ENST00000346178	ensembl	human	known	69_37n	missense	304	15.89	58	SNP	0.997	C
GANC	2595	genome.wustl.edu	37	15	42631936	42631936	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:42631936A>C	ENST00000318010.8	+	17	2153	c.1913A>C	c.(1912-1914)tAc>tCc	p.Y638S		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	638					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCTGGAGCCTACCAGCCCTTC	0.572																																						dbGAP											0													84.0	80.0	82.0					15																	42631936		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1913A>C	15.37:g.42631936A>C	ENSP00000326227:p.Tyr638Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.Y638S	ENST00000318010.8	37	c.1913	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150699	0.78001	.	.	ENSG00000214013	ENST00000318010	D	0.91686	-2.89	6.03	4.84	0.62591	Glycoside hydrolase, superfamily (1);	0.197928	0.44097	D	0.000492	D	0.95723	0.8609	M	0.90542	3.125	0.42468	D	0.992817	D	0.58970	0.984	P	0.61477	0.889	D	0.96125	0.9088	10	0.87932	D	0	-12.3903	10.2952	0.43620	0.6928:0.0:0.0:0.3072	.	638	Q8TET4	GANC_HUMAN	S	638	ENSP00000326227:Y638S	ENSP00000326227:Y638S	Y	+	2	0	GANC	40419228	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.179000	0.50887	2.308000	0.77769	0.533000	0.62120	TAC	GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000214013		0.572	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	183	0.54	1	A	NM_198141		42631936	42631936	+1	no_errors	ENST00000318010	ensembl	human	known	69_37n	missense	118	16.20	23	SNP	1.000	C
GANC	2595	genome.wustl.edu	37	15	42631962	42631962	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:42631962A>C	ENST00000318010.8	+	17	2179	c.1939A>C	c.(1939-1941)Acc>Ccc	p.T647P		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	647					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGGCCATGCCACCATGAACAC	0.582																																						dbGAP											0													74.0	68.0	70.0					15																	42631962		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1939A>C	15.37:g.42631962A>C	ENSP00000326227:p.Thr647Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.T647P	ENST00000318010.8	37	c.1939	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064469	0.55432	.	.	ENSG00000214013	ENST00000318010	D	0.91577	-2.87	6.03	4.91	0.64330	Glycoside hydrolase, superfamily (1);	0.421922	0.27659	N	0.018381	D	0.91603	0.7347	M	0.77712	2.385	0.09310	N	1	P	0.34546	0.456	B	0.41412	0.356	D	0.86075	0.1540	10	0.72032	D	0.01	-8.5998	11.9625	0.53017	0.9329:0.0:0.0671:0.0	.	647	Q8TET4	GANC_HUMAN	P	647	ENSP00000326227:T647P	ENSP00000326227:T647P	T	+	1	0	GANC	40419254	0.001000	0.12720	0.567000	0.28434	0.853000	0.48598	1.536000	0.36072	1.114000	0.41781	0.533000	0.62120	ACC	GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000214013		0.582	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	174	0.00	0	A	NM_198141		42631962	42631962	+1	no_errors	ENST00000318010	ensembl	human	known	69_37n	missense	125	11.89	17	SNP	0.125	C
GARNL3	84253	genome.wustl.edu	37	9	130117695	130117695	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130117695A>C	ENST00000373387.4	+	20	2231	c.1879A>C	c.(1879-1881)Acc>Ccc	p.T627P	GARNL3_ENST00000435213.2_Missense_Mutation_p.T605P|GARNL3_ENST00000314904.5_Missense_Mutation_p.T627P|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	627	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GGTCACCAGCACCTCATTGTT	0.448																																						dbGAP											0													313.0	316.0	315.0					9																	130117695		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1879A>C	9.37:g.130117695A>C	ENSP00000362485:p.Thr627Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.T627P	ENST00000373387.4	37	c.1879	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	A	9.741	1.164914	0.21538	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.88046	-2.33;-2.31;-2.32	5.48	-9.18	0.00688	Citron-like (2);	1.400480	0.04442	N	0.371131	T	0.69878	0.3160	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.55003	-0.8208	9	.	.	.	.	1.0511	0.01580	0.3519:0.2576:0.2295:0.161	.	627;605	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	P	605;627;627	ENSP00000396205:T605P;ENSP00000313970:T627P;ENSP00000362485:T627P	.	T	+	1	0	GARNL3	129157516	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-1.074000	0.03427	-0.976000	0.03542	0.460000	0.39030	ACC	GARNL3	-	pfam_Citron,smart_Citron	ENSG00000136895		0.448	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	370	0.27	1	A	NM_032293		130117695	130117695	+1	no_errors	ENST00000373387	ensembl	human	known	69_37n	missense	324	10.71	39	SNP	0.000	C
GBA	2629	genome.wustl.edu	37	1	155209826	155209826	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155209826A>C	ENST00000327247.5	-	4	390	c.158T>G	c.(157-159)gTg>gGg	p.V53G	GBA_ENST00000427500.3_Missense_Mutation_p.V53G|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Intron|GBA_ENST00000428024.3_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.V53G	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	53					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GACACACACCACCGAGCTGTA	0.572									Gaucher disease type I																													dbGAP											0													47.0	40.0	42.0					1																	155209826		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.158T>G	1.37:g.155209826A>C	ENSP00000314508:p.Val53Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30	p.V53G	ENST00000327247.5	37	c.158	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914918	0.33815	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000402928	D;D;D	0.96491	-4.03;-4.03;-4.03	3.46	3.46	0.39613	.	0.215447	0.29293	N	0.012579	D	0.96405	0.8827	M	0.70275	2.135	0.80722	D	1	D;D	0.67145	0.984;0.996	D;D	0.68039	0.954;0.955	D	0.95998	0.8991	10	0.59425	D	0.04	.	8.4569	0.32903	1.0:0.0:0.0:0.0	.	53;53	B7Z5G2;P04062	.;GLCM_HUMAN	G	53	ENSP00000402577:V53G;ENSP00000357357:V53G;ENSP00000314508:V53G	ENSP00000314508:V53G	V	-	2	0	GBA	153476450	1.000000	0.71417	0.993000	0.49108	0.207000	0.24258	4.032000	0.57274	1.574000	0.49760	0.383000	0.25322	GTG	GBA	-	pfam_Glyco_hydro_30,prints_Glyco_hydro_30	ENSG00000177628		0.572	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	HGNC	protein_coding	OTTHUMT00000087204.1	46	0.00	0	A	NM_000157		155209826	155209826	-1	no_errors	ENST00000327247	ensembl	human	known	69_37n	missense	60	19.74	15	SNP	1.000	C
GBA2	57704	genome.wustl.edu	37	9	35738184	35738184	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35738184T>G	ENST00000378103.3	-	15	2721				GBA2_ENST00000378088.1_Silent_p.T22T|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCTCCTGGTGTCCTCTCAG	0.517																																						dbGAP											0													83.0	84.0	84.0					9																	35738184		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2198-35A>C	9.37:g.35738184T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	pfam_Glucosylceramidase	p.T22	ENST00000378103.3	37	c.66	CCDS6589.1	9																																																																																			GBA2	-	NULL	ENSG00000070610		0.517	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	182	0.55	1	T	NM_020944		35738184	35738184	-1	no_errors	ENST00000378088	ensembl	human	known	69_37n	silent	117	13.97	19	SNP	0.000	G
GBF1	8729	genome.wustl.edu	37	10	104117888	104117888	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:104117888A>C	ENST00000369983.3	+	9	992	c.732A>C	c.(730-732)acA>acC	p.T244T		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	244					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCAAAGTCACACCAGGTTCAG	0.498																																						dbGAP											0													200.0	197.0	198.0					10																	104117888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.732A>C	10.37:g.104117888A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.T244	ENST00000369983.3	37	c.732	CCDS7533.1	10																																																																																			GBF1	-	superfamily_ARM-type_fold	ENSG00000107862		0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	336	0.30	1	A			104117888	104117888	+1	no_errors	ENST00000369983	ensembl	human	known	69_37n	silent	398	10.34	46	SNP	0.118	C
GBP2	2634	genome.wustl.edu	37	1	89586870	89586870	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:89586870T>G	ENST00000370466.3	-	3	542	c.274A>C	c.(274-276)Acc>Ccc	p.T92P	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	92	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AGAACTAGGGTGTGTTCTGGC	0.423																																						dbGAP											0													122.0	121.0	121.0					1																	89586870		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.274A>C	1.37:g.89586870T>G	ENSP00000359497:p.Thr92Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.T92P	ENST00000370466.3	37	c.274	CCDS719.1	1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782787	0.49891	.	.	ENSG00000162645	ENST00000370466	T	0.76968	-1.06	3.26	2.08	0.27032	Guanylate-binding protein, N-terminal (1);	0.082254	0.46442	U	0.000283	T	0.80243	0.4587	M	0.84511	2.7	0.09310	N	0.999998	D	0.61080	0.989	D	0.67103	0.949	T	0.72014	-0.4418	10	0.87932	D	0	2.0889	7.0357	0.24993	0.2031:0.0:0.0:0.7969	.	92	P32456	GBP2_HUMAN	P	92	ENSP00000359497:T92P	ENSP00000359497:T92P	T	-	1	0	GBP2	89359458	0.998000	0.40836	0.007000	0.13788	0.314000	0.28054	0.797000	0.26999	0.417000	0.25871	0.460000	0.39030	ACC	GBP2	-	pfam_Guanylate-bd_N	ENSG00000162645		0.423	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	315	0.62	2	T	NM_004120		89586870	89586870	-1	no_errors	ENST00000370466	ensembl	human	known	69_37n	missense	215	20.07	54	SNP	0.230	G
GBP4	115361	genome.wustl.edu	37	1	89652748	89652748	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:89652748A>C	ENST00000355754.6	-	9	1545	c.1448T>G	c.(1447-1449)gTg>gGg	p.V483G	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	483						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTCTACAACCACCTGTGACTG	0.532																																						dbGAP											0													143.0	122.0	129.0					1																	89652748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1448T>G	1.37:g.89652748A>C	ENSP00000359490:p.Val483Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.V483G	ENST00000355754.6	37	c.1448	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	A	8.268	0.812662	0.16537	.	.	ENSG00000162654	ENST00000355754	T	0.01998	4.51	4.3	-8.59	0.00893	Guanylate-binding protein, C-terminal (3);	0.819730	0.10877	N	0.624229	T	0.00845	0.0028	L	0.55481	1.735	0.09310	N	1	B	0.32467	0.372	B	0.39771	0.309	T	0.15723	-1.0427	10	0.35671	T	0.21	.	6.0038	0.19535	0.5352:0.0:0.1634:0.3014	.	483	Q96PP9	GBP4_HUMAN	G	483	ENSP00000359490:V483G	ENSP00000359490:V483G	V	-	2	0	GBP4	89425336	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.407000	0.02488	-2.459000	0.00537	-0.441000	0.05720	GTG	GBP4	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000162654		0.532	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	188	0.53	1	A	NM_052941		89652748	89652748	-1	no_errors	ENST00000355754	ensembl	human	known	69_37n	missense	180	14.95	32	SNP	0.000	C
GBP7	388646	genome.wustl.edu	37	1	89615102	89615102	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:89615102A>C	ENST00000294671.2	-	7	1163	c.1025T>G	c.(1024-1026)gTg>gGg	p.V342G		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	342						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGGGAATCTCACTTGCTGGGC	0.542																																						dbGAP											0													127.0	113.0	118.0					1																	89615102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1025T>G	1.37:g.89615102A>C	ENSP00000294671:p.Val342Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.V342G	ENST00000294671.2	37	c.1025	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310452	0.23821	.	.	ENSG00000213512	ENST00000294671	T	0.02606	4.23	3.54	3.54	0.40534	Guanylate-binding protein, C-terminal (3);	0.906415	0.09402	N	0.807108	T	0.06416	0.0165	M	0.77616	2.38	0.23445	N	0.997663	D	0.58620	0.983	P	0.62491	0.903	T	0.23226	-1.0194	10	0.87932	D	0	.	10.0729	0.42343	1.0:0.0:0.0:0.0	.	342	Q8N8V2	GBP7_HUMAN	G	342	ENSP00000294671:V342G	ENSP00000294671:V342G	V	-	2	0	GBP7	89387690	0.002000	0.14202	0.008000	0.14137	0.022000	0.10575	1.600000	0.36762	1.483000	0.48342	0.428000	0.28381	GTG	GBP7	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000213512		0.542	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	167	0.59	1	A	NM_207398		89615102	89615102	-1	no_errors	ENST00000294671	ensembl	human	known	69_37n	missense	119	10.45	14	SNP	0.000	C
GBP6	163351	genome.wustl.edu	37	1	89843750	89843750	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:89843750A>C	ENST00000370456.4	+	4	500	c.407A>C	c.(406-408)cAc>cCc	p.H136P	GBP6_ENST00000535065.1_Missense_Mutation_p.H6P	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	136	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACCATCAACCACCAGGCCCTG	0.498																																						dbGAP											0													147.0	140.0	143.0					1																	89843750		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.407A>C	1.37:g.89843750A>C	ENSP00000359485:p.His136Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.H136P	ENST00000370456.4	37	c.407	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682108	0.68042	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.60672	0.17;0.17	4.97	3.82	0.43975	Guanylate-binding protein, N-terminal (1);	0.298098	0.33253	N	0.005104	T	0.70046	0.3179	M	0.90369	3.11	0.37553	D	0.918759	P	0.52842	0.956	D	0.65573	0.936	T	0.76016	-0.3113	10	0.72032	D	0.01	-5.4333	10.0975	0.42484	0.8308:0.1692:0.0:0.0	.	136	Q6ZN66	GBP6_HUMAN	P	107;136;6	ENSP00000359485:H136P;ENSP00000442530:H6P	ENSP00000359485:H136P	H	+	2	0	GBP6	89616338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.457000	0.73505	0.723000	0.32274	0.477000	0.44152	CAC	GBP6	-	pfam_Guanylate-bd_N	ENSG00000183347		0.498	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	148	0.00	0	A	NM_198460		89843750	89843750	+1	no_errors	ENST00000370456	ensembl	human	known	69_37n	missense	128	16.77	26	SNP	1.000	C
GCKR	2646	genome.wustl.edu	37	2	27730560	27730560	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27730560A>C	ENST00000264717.2	+	14	1219	c.1156A>C	c.(1156-1158)Acc>Ccc	p.T386P	GCKR_ENST00000424318.2_Missense_Mutation_p.T196P	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	386	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCCCCAGTTCACCTTCTCCCA	0.537																																						dbGAP											0													93.0	85.0	88.0					2																	27730560		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1156A>C	2.37:g.27730560A>C	ENSP00000264717:p.Thr386Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	NULL	p.T386P	ENST00000264717.2	37	c.1156	CCDS1757.1	2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853165	0.32699	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	D;D	0.83591	-1.74;-1.74	4.52	-1.51	0.08664	Sugar isomerase (SIS) (1);	0.568231	0.17601	N	0.168410	T	0.68659	0.3025	N	0.22421	0.69	0.28505	N	0.913803	B;B;B	0.23806	0.091;0.039;0.05	B;B;B	0.25884	0.064;0.026;0.036	T	0.57808	-0.7747	10	0.48119	T	0.1	-3.633	8.8701	0.35311	0.6273:0.0:0.0:0.3727	.	196;384;386	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	P	386;196	ENSP00000264717:T386P;ENSP00000409109:T196P	ENSP00000264717:T386P	T	+	1	0	GCKR	27584064	0.909000	0.30893	0.988000	0.46212	0.940000	0.58332	-0.342000	0.07801	-0.426000	0.07360	-0.302000	0.09304	ACC	GCKR	-	NULL	ENSG00000084734		0.537	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	81	0.00	0	A	NM_001486		27730560	27730560	+1	no_errors	ENST00000264717	ensembl	human	known	69_37n	missense	72	16.09	14	SNP	0.996	C
GCNT2	2651	genome.wustl.edu	37	6	10529558	10529558	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:10529558T>G	ENST00000379597.3	+	1	970	c.414T>G	c.(412-414)ggT>ggG	p.G138G	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.G138G|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	138					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CCTTTAAAGGTGCAGTGAAAC	0.507																																						dbGAP											0													83.0	76.0	78.0					6																	10529558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.414T>G	6.37:g.10529558T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Glyco_trans_14	p.G138	ENST00000379597.3	37	c.414	CCDS34338.1	6																																																																																			GCNT2	-	pfam_Glyco_trans_14	ENSG00000111846		0.507	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	174	0.00	0	T	NM_145649		10529558	10529558	+1	no_errors	ENST00000379597	ensembl	human	known	69_37n	silent	157	11.30	20	SNP	0.000	G
GCM2	9247	genome.wustl.edu	37	6	10874881	10874881	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:10874881T>G	ENST00000379491.4	-	5	1015	c.868A>C	c.(868-870)Acc>Ccc	p.T290P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	290					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTATAAAGGGTGGGATATGGG	0.428																																						dbGAP											0													205.0	198.0	200.0					6																	10874881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.868A>C	6.37:g.10874881T>G	ENSP00000368805:p.Thr290Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.T290P	ENST00000379491.4	37	c.868	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616092	0.28801	.	.	ENSG00000124827	ENST00000379491	T	0.69806	-0.43	5.5	3.13	0.36017	.	0.494670	0.23125	N	0.051653	T	0.66713	0.2817	M	0.74881	2.28	0.09310	N	0.999998	D	0.89917	1.0	D	0.71870	0.975	T	0.60291	-0.7292	10	0.66056	D	0.02	-8.001	6.1143	0.20117	0.1204:0.135:0.0:0.7445	.	290	O75603	GCM2_HUMAN	P	290	ENSP00000368805:T290P	ENSP00000368805:T290P	T	-	1	0	GCM2	10982867	0.176000	0.23096	0.001000	0.08648	0.203000	0.24098	0.149000	0.16243	0.479000	0.27511	0.528000	0.53228	ACC	GCM2	-	NULL	ENSG00000124827		0.428	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	241	0.00	0	T			10874881	10874881	-1	no_errors	ENST00000379491	ensembl	human	known	69_37n	missense	237	12.13	33	SNP	0.052	G
GCLC	2729	genome.wustl.edu	37	6	53365147	53365147	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:53365147A>C	ENST00000229416.6	-	14	1962	c.1479T>G	c.(1477-1479)ggT>ggG	p.G493G	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	493					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CTGCATTGCCACCTGCCGGAG	0.493																																						dbGAP											0													108.0	104.0	106.0					6																	53365147		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1478-1T>G	6.37:g.53365147A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14399	Silent	SNP	pfam_GCS	p.G493	ENST00000229416.6	37	c.1479	CCDS4952.1	6																																																																																			GCLC	-	pfam_GCS	ENSG00000001084		0.493	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLC	HGNC	protein_coding	OTTHUMT00000359710.2	226	0.44	1	A		Silent	53365147	53365147	-1	no_errors	ENST00000229416	ensembl	human	known	69_37n	silent	154	15.85	29	SNP	1.000	C
GEMIN2	8487	genome.wustl.edu	37	14	39603110	39603110	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:39603110A>C	ENST00000308317.6	+	9	886				GEMIN2_ENST00000396249.2_Intron|GEMIN2_ENST00000250379.8_Intron	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											caatcctcccacctcagcctc	0.483																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.803+187A>C	14.37:g.39603110A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	RNA	SNP	-	NULL	ENST00000308317.6	37	NULL	CCDS9669.1	14																																																																																			GEMIN2	-	-	ENSG00000092208		0.483	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN2	HGNC	protein_coding	OTTHUMT00000276730.2	52	0.00	0	A			39603110	39603110	+1	no_errors	ENST00000524781	ensembl	human	putative	69_37n	rna	36	29.41	15	SNP	0.028	C
GEMIN5	25929	genome.wustl.edu	37	5	154304056	154304056	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:154304056A>C	ENST00000285873.7	-	9	1427	c.1352T>G	c.(1351-1353)gTg>gGg	p.V451G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	451					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATACAATCCCACTTTTCCATC	0.453																																						dbGAP											0													283.0	272.0	276.0					5																	154304056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1352T>G	5.37:g.154304056A>C	ENSP00000285873:p.Val451Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V451G	ENST00000285873.7	37	c.1352	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691923	0.88735	.	.	ENSG00000082516	ENST00000285873	T	0.08546	3.08	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.91663	3.23	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.48525	-0.9028	10	0.87932	D	0	-15.7582	16.2271	0.82306	1.0:0.0:0.0:0.0	.	450;451	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	G	451	ENSP00000285873:V451G	ENSP00000285873:V451G	V	-	2	0	GEMIN5	154284249	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.449000	0.90337	2.234000	0.73211	0.460000	0.39030	GTG	GEMIN5	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000082516		0.453	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	187	0.00	0	A			154304056	154304056	-1	no_errors	ENST00000285873	ensembl	human	known	69_37n	missense	197	12.39	28	SNP	1.000	C
GFAP	2670	genome.wustl.edu	37	17	42991133	42991133	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:42991133T>C	ENST00000253408.5	-	3	646	c.581A>G	c.(580-582)gAg>gGg	p.E194G	GFAP_ENST00000435360.2_Missense_Mutation_p.E194G|GFAP_ENST00000586793.1_Missense_Mutation_p.E194G|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	194	Coil 1B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GATCTCCTCCTCCAGCGACTC	0.592																																						dbGAP											0													169.0	171.0	170.0					17																	42991133		2203	4300	6503	-	-	-	SO:0001583	missense	0			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.581A>G	17.37:g.42991133T>C	ENSP00000253408:p.Glu194Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	pfam_F	p.E194G	ENST00000253408.5	37	c.581	CCDS11491.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.65|18.65	3.670238|3.670238	0.67814|0.67814	.|.	.|.	ENSG00000131095|ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360|ENST00000376990	D;D|D	0.89270|0.89196	-2.49;-2.49|-2.48	4.71|4.71	4.71|4.71	0.59529|0.59529	Filament (1);|.	0.067249|.	0.64402|.	D|.	0.000010|.	D|D	0.88001|0.88001	0.6320|0.6320	L|L	0.41079|0.41079	1.255|1.255	0.39263|0.39263	D|D	0.964241|0.964241	P;B|.	0.50819|.	0.939;0.259|.	P;B|.	0.53360|.	0.724;0.139|.	D|D	0.87158|0.87158	0.2213|0.2213	10|6	0.51188|.	T|.	0.08|.	.|.	13.5904|13.5904	0.61957|0.61957	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	194;194|.	E9PAX3;P14136|.	.;GFAP_HUMAN|.	G|G	194;169;194|174	ENSP00000253408:E194G;ENSP00000403962:E194G|ENSP00000366189:R174G	ENSP00000253408:E194G|.	E|R	-|-	2|1	0|2	GFAP|GFAP	40346659|40346659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	4.965000|4.965000	0.63708|0.63708	2.100000|2.100000	0.63781|0.63781	0.379000|0.379000	0.24179|0.24179	GAG|AGG	GFAP	-	pfam_F	ENSG00000131095		0.592	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	HGNC	protein_coding	OTTHUMT00000448701.1	192	0.00	0	T	NM_002055		42991133	42991133	-1	no_errors	ENST00000253408	ensembl	human	known	69_37n	missense	125	11.35	16	SNP	1.000	C
GGA2	23062	genome.wustl.edu	37	16	23478980	23478980	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:23478980A>C	ENST00000309859.4	-	17	1855	c.1773T>G	c.(1771-1773)ggT>ggG	p.G591G	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	591	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAGGCTGTCCACCTTGGTTGA	0.507																																						dbGAP											0													109.0	85.0	93.0					16																	23478980		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1773T>G	16.37:g.23478980A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.G591	ENST00000309859.4	37	c.1773	CCDS10611.1	16																																																																																			GGA2	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app	ENSG00000103365		0.507	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	44	0.00	0	A			23478980	23478980	-1	no_errors	ENST00000309859	ensembl	human	known	69_37n	silent	43	14.00	7	SNP	0.659	C
GGCX	2677	genome.wustl.edu	37	2	85778170	85778170	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:85778170A>C	ENST00000233838.4	-	13	1846	c.1766T>G	c.(1765-1767)gTg>gGg	p.V589G	GGCX_ENST00000430215.3_Missense_Mutation_p.V532G|GGCX_ENST00000473665.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	589					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TGTCGTATACACCTTATGGTA	0.448																																						dbGAP											0													166.0	149.0	155.0					2																	85778170		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1766T>G	2.37:g.85778170A>C	ENSP00000233838:p.Val589Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.V589G	ENST00000233838.4	37	c.1766	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195279	0.78902	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.86694	-2.16;-2.16	5.53	5.53	0.82687	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.975;0.992	D	0.94275	0.7514	10	0.87932	D	0	-22.0424	13.9029	0.63817	1.0:0.0:0.0:0.0	.	532;405;589	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	G	589;532	ENSP00000233838:V589G;ENSP00000408045:V532G	ENSP00000233838:V589G	V	-	2	0	GGCX	85631681	1.000000	0.71417	0.992000	0.48379	0.737000	0.42083	8.467000	0.90390	2.231000	0.72958	0.459000	0.35465	GTG	GGCX	-	superfamily_RmlC_Cupin	ENSG00000115486		0.448	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	181	0.00	0	A	NM_000821		85778170	85778170	-1	no_errors	ENST00000233838	ensembl	human	known	69_37n	missense	180	14.62	31	SNP	1.000	C
GGCX	2677	genome.wustl.edu	37	2	85780141	85780141	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:85780141A>C	ENST00000233838.4	-	9	1288	c.1208T>G	c.(1207-1209)gTg>gGg	p.V403G	GGCX_ENST00000430215.3_Missense_Mutation_p.V346G|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	403					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCGGGAGTGCACCATCATGTC	0.552																																						dbGAP											0													188.0	163.0	172.0					2																	85780141		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1208T>G	2.37:g.85780141A>C	ENSP00000233838:p.Val403Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.V403G	ENST00000233838.4	37	c.1208	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325160	0.81580	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.94046	-3.34;-3.34	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.995;0.993	D	0.97315	0.9940	10	0.87932	D	0	-15.448	13.627	0.62170	1.0:0.0:0.0:0.0	.	346;242;403	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	G	403;346	ENSP00000233838:V403G;ENSP00000408045:V346G	ENSP00000233838:V403G	V	-	2	0	GGCX	85633652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.547000	0.90665	2.102000	0.63906	0.533000	0.62120	GTG	GGCX	-	pfam_VKG_COase	ENSG00000115486		0.552	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	151	0.00	0	A	NM_000821		85780141	85780141	-1	no_errors	ENST00000233838	ensembl	human	known	69_37n	missense	130	12.16	18	SNP	1.000	C
GGT5	2687	genome.wustl.edu	37	22	24622675	24622675	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:24622675T>G	ENST00000327365.4	-	7	1378	c.962A>C	c.(961-963)cAc>cCc	p.H321P	GGT5_ENST00000263112.7_Missense_Mutation_p.H289P|GGT5_ENST00000418439.2_Missense_Mutation_p.H244P|GGT5_ENST00000398292.3_Missense_Mutation_p.H321P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	321					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CTCTACAAGGTGGTGGTACAC	0.602																																						dbGAP											0													134.0	119.0	124.0					22																	24622675		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.962A>C	22.37:g.24622675T>G	ENSP00000330080:p.His321Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.H321P	ENST00000327365.4	37	c.962	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750595	0.49257	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	3.19	2.15	0.27550	.	0.348483	0.30392	N	0.009739	T	0.18383	0.0441	M	0.72894	2.215	0.32164	N	0.582564	D;D;D;D;D	0.69078	0.997;0.962;0.995;0.965;0.995	D;P;D;P;D	0.64506	0.916;0.815;0.926;0.845;0.926	T	0.07121	-1.0789	10	0.44086	T	0.13	-20.5288	4.0284	0.09698	0.0:0.2722:0.0:0.7278	.	244;289;321;321;321	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	P	321;289;236;321;244	ENSP00000330080:H321P;ENSP00000263112:H289P;ENSP00000381340:H321P;ENSP00000392146:H244P	ENSP00000263112:H289P	H	-	2	0	GGT5	22952675	0.264000	0.24093	0.970000	0.41538	0.728000	0.41692	0.620000	0.24403	1.471000	0.48121	0.392000	0.25879	CAC	GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.602	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	56	0.00	0	T	NM_004121		24622675	24622675	-1	no_errors	ENST00000398292	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.966	G
GIGYF2	26058	genome.wustl.edu	37	2	233659531	233659531	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:233659531A>C	ENST00000409547.1	+	15	1667	c.1356A>C	c.(1354-1356)ccA>ccC	p.P452P	GIGYF2_ENST00000409196.3_Silent_p.P446P|GIGYF2_ENST00000409480.1_Silent_p.P474P|GIGYF2_ENST00000452341.2_Silent_p.P283P|GIGYF2_ENST00000373563.4_Silent_p.P452P|GIGYF2_ENST00000409451.3_Silent_p.P473P|GIGYF2_ENST00000373566.3_Silent_p.P474P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	452	Pro-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCATACTTCCACCTCCTGTTC	0.493																																						dbGAP											0													280.0	279.0	280.0					2																	233659531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1356A>C	2.37:g.233659531A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P474	ENST00000409547.1	37	c.1422	CCDS33401.1	2																																																																																			GIGYF2	-	NULL	ENSG00000204120		0.493	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	741	0.53	4	A	NM_001103146		233659531	233659531	+1	no_errors	ENST00000373566	ensembl	human	known	69_37n	silent	647	16.24	126	SNP	0.981	C
GJB7	375519	genome.wustl.edu	37	6	87994373	87994373	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:87994373T>G	ENST00000525899.1	-	3	603	c.258A>C	c.(256-258)acA>acC	p.T86T	GJB7_ENST00000296882.3_Silent_p.T86T	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	86					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GAAGTGAAGGTGTGGAGACCA	0.468																																						dbGAP											0													114.0	111.0	112.0					6																	87994373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.258A>C	6.37:g.87994373T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXL0|Q96KP0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.T86	ENST00000525899.1	37	c.258	CCDS5008.1	6																																																																																			GJB7	-	pfam_Connexin_N,prints_Connexin	ENSG00000164411		0.468	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB7	HGNC	protein_coding	OTTHUMT00000394780.1	398	0.00	0	T			87994373	87994373	-1	no_errors	ENST00000296882	ensembl	human	known	69_37n	silent	325	10.22	37	SNP	0.050	G
GK2	2712	genome.wustl.edu	37	4	80329197	80329197	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:80329197A>C	ENST00000358842.3	-	1	175	c.158T>G	c.(157-159)gTg>gGg	p.V53G		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTCTTGTTCCACCCATCCTTC	0.388																																						dbGAP											0													164.0	161.0	162.0					4																	80329197		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.158T>G	4.37:g.80329197A>C	ENSP00000351706:p.Val53Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.V53G	ENST00000358842.3	37	c.158	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110086	0.56398	.	.	ENSG00000196475	ENST00000358842	T	0.61627	0.09	3.73	3.73	0.42828	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84833	0.0803	10	0.87932	D	0	-6.933	11.0505	0.47884	1.0:0.0:0.0:0.0	.	53	Q14410	GLPK2_HUMAN	G	53	ENSP00000351706:V53G	ENSP00000351706:V53G	V	-	2	0	GK2	80548221	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	8.273000	0.89887	1.939000	0.56221	0.477000	0.44152	GTG	GK2	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000196475		0.388	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	232	0.00	0	A	NM_033214		80329197	80329197	-1	no_errors	ENST00000358842	ensembl	human	known	69_37n	missense	199	14.53	34	SNP	1.000	C
GLCCI1	113263	genome.wustl.edu	37	7	8099741	8099741	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:8099741T>G	ENST00000223145.5	+	5	1386	c.829T>G	c.(829-831)Tca>Gca	p.S277A	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	277						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGGATCAAGGTCAGTTCCTAT	0.353																																						dbGAP											0													119.0	110.0	113.0					7																	8099741		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.829T>G	7.37:g.8099741T>G	ENSP00000223145:p.Ser277Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D103|Q96FD0	Splice_Site	SNP	-	e5+2	ENST00000223145.5	37	c.491+2	CCDS34601.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.22|19.22	3.784613|3.784613	0.70222|0.70222	.|.	.|.	ENSG00000106415|ENSG00000106415	ENST00000430798|ENST00000223145;ENST00000414914	.|.	.|.	.|.	5.14|5.14	3.89|3.89	0.44902|0.44902	.|.	.|0.132257	.|0.53938	.|D	.|0.000056	.|T	.|0.60766	.|0.2294	L|L	0.41710|0.41710	1.295|1.295	0.51233|0.51233	D|D	0.999919|0.999919	.|D	.|0.64830	.|0.994	.|D	.|0.63283	.|0.913	.|T	.|0.53641	.|-0.8410	.|9	.|0.17832	.|T	.|0.49	.|-14.0307	11.5298|11.5298	0.50601|0.50601	0.1342:0.0:0.0:0.8658|0.1342:0.0:0.0:0.8658	.|.	.|277	.|Q86VQ1	.|GLCI1_HUMAN	.|A	-1|277;135	.|.	.|ENSP00000223145:S277A	.|S	+|+	.|1	.|0	GLCCI1|GLCCI1	8066266|8066266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.253000|4.253000	0.58791|0.58791	2.250000|2.250000	0.74265|0.74265	0.477000|0.477000	0.44152|0.44152	.|TCA	GLCCI1	-	-	ENSG00000106415		0.353	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	HGNC	protein_coding	OTTHUMT00000324672.1	221	0.00	0	T	NM_138426		8099741	8099741	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430798	ensembl	human	putative	69_37n	splice_site	141	13.41	22	SNP	1.000	G
GLCCI1	113263	genome.wustl.edu	37	7	8126052	8126052	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:8126052A>C	ENST00000223145.5	+	8	2085	c.1528A>C	c.(1528-1530)Acc>Ccc	p.T510P		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	510						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTCTGATGACACCAGCACAGC	0.577																																						dbGAP											0													164.0	182.0	176.0					7																	8126052		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1528A>C	7.37:g.8126052A>C	ENSP00000223145:p.Thr510Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D103|Q96FD0	Missense_Mutation	SNP	NULL	p.T510P	ENST00000223145.5	37	c.1528	CCDS34601.1	7	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362116	0.24684	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.32	5.32	0.75619	.	0.253065	0.40302	N	0.001130	T	0.42539	0.1207	N	0.20685	0.6	0.38441	D	0.946695	B	0.24768	0.111	B	0.27715	0.082	T	0.41215	-0.9521	9	0.33141	T	0.24	-17.2332	11.7198	0.51675	0.8527:0.1473:0.0:0.0	.	510	Q86VQ1	GLCI1_HUMAN	P	510	.	ENSP00000223145:T510P	T	+	1	0	GLCCI1	8092577	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.914000	0.69964	2.371000	0.80710	0.533000	0.62120	ACC	GLCCI1	-	NULL	ENSG00000106415		0.577	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	HGNC	protein_coding	OTTHUMT00000324672.1	311	0.95	3	A	NM_138426		8126052	8126052	+1	no_errors	ENST00000223145	ensembl	human	known	69_37n	missense	281	12.96	42	SNP	1.000	C
GLDC	2731	genome.wustl.edu	37	9	6605174	6605174	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:6605174A>C	ENST00000321612.6	-	6	968	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	273					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AAAGTCTTCCACCTTCCCCTC	0.517																																						dbGAP											0													158.0	118.0	132.0					9																	6605174		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.818T>G	9.37:g.6605174A>C	ENSP00000370737:p.Val273Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.V273G	ENST00000321612.6	37	c.818	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474109	0.84640	.	.	ENSG00000178445	ENST00000321612	D	0.96856	-4.15	5.45	5.45	0.79879	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	H	0.95884	3.735	0.80722	D	1	D	0.57571	0.98	D	0.67382	0.951	D	0.99737	1.1014	10	0.87932	D	0	-24.0714	15.8205	0.78638	1.0:0.0:0.0:0.0	.	273	P23378	GCSP_HUMAN	G	273	ENSP00000370737:V273G	ENSP00000370737:V273G	V	-	2	0	GLDC	6595174	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.701000	0.91331	2.201000	0.70794	0.533000	0.62120	GTG	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	ENSG00000178445		0.517	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	114	0.87	1	A	NM_000170		6605174	6605174	-1	no_errors	ENST00000321612	ensembl	human	known	69_37n	missense	90	20.35	23	SNP	1.000	C
GLI1	2735	genome.wustl.edu	37	12	57857868	57857868	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57857868A>C	ENST00000228682.2	+	3	278	c.187A>C	c.(187-189)Acc>Ccc	p.T63P	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	63					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAACAGCTGCACCGAGGGTGA	0.577																																					Pancreas(157;841 1936 10503 41495 50368)	dbGAP											0													129.0	116.0	120.0					12																	57857868		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.187A>C	12.37:g.57857868A>C	ENSP00000228682:p.Thr63Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T63P	ENST00000228682.2	37	c.187	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198433	0.38806	.	.	ENSG00000111087	ENST00000228682;ENST00000544736;ENST00000528432	T	0.12879	2.64	4.28	3.09	0.35607	.	0.232106	0.30134	N	0.010333	T	0.10337	0.0253	L	0.39898	1.24	0.80722	D	1	B	0.34226	0.443	B	0.28849	0.095	T	0.10451	-1.0629	10	0.66056	D	0.02	.	7.8256	0.29313	0.7885:0.2115:0.0:0.0	.	63	P08151	GLI1_HUMAN	P	63;17;63	ENSP00000228682:T63P	ENSP00000228682:T63P	T	+	1	0	GLI1	56144135	0.281000	0.24258	0.954000	0.39281	0.924000	0.55760	0.589000	0.23939	0.754000	0.32968	0.454000	0.30748	ACC	GLI1	-	NULL	ENSG00000111087		0.577	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	157	0.00	0	A	NM_005269		57857868	57857868	+1	no_errors	ENST00000228682	ensembl	human	known	69_37n	missense	97	23.62	30	SNP	0.979	C
GLI1	2735	genome.wustl.edu	37	12	57864698	57864698	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57864698A>C	ENST00000228682.2	+	12	2266	c.2175A>C	c.(2173-2175)ccA>ccC	p.P725P	GLI1_ENST00000546141.1_Silent_p.P684P|GLI1_ENST00000543426.1_Silent_p.P597P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	725					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGACTTCCCACCTACTGATA	0.582																																					Pancreas(157;841 1936 10503 41495 50368)	dbGAP											0													83.0	91.0	88.0					12																	57864698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2175A>C	12.37:g.57864698A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P725	ENST00000228682.2	37	c.2175	CCDS8940.1	12																																																																																			GLI1	-	NULL	ENSG00000111087		0.582	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	48	0.00	0	A	NM_005269		57864698	57864698	+1	no_errors	ENST00000228682	ensembl	human	known	69_37n	silent	40	24.07	13	SNP	0.748	C
GLIPR1	11010	genome.wustl.edu	37	12	75875708	75875708	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:75875708A>C	ENST00000266659.3	+	2	470	c.269A>C	c.(268-270)cAc>cCc	p.H90P	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	90	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CACAAGCTGCACCCAAACTTC	0.502																																						dbGAP											0													123.0	109.0	114.0					12																	75875708		2203	4300	6503	-	-	-	SO:0001583	missense	0			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.269A>C	12.37:g.75875708A>C	ENSP00000266659:p.His90Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.H90P	ENST00000266659.3	37	c.269	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416887	0.83449	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.07908	3.15;3.15	5.8	5.8	0.92144	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	M	0.85299	2.745	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.06338	-1.0832	10	0.35671	T	0.21	.	14.7094	0.69218	1.0:0.0:0.0:0.0	.	90;90	F6VVE8;P48060	.;GLIP1_HUMAN	P	90	ENSP00000266659:H90P;ENSP00000391144:H90P	ENSP00000266659:H90P	H	+	2	0	GLIPR1	74161975	1.000000	0.71417	0.988000	0.46212	0.928000	0.56348	7.335000	0.79234	2.219000	0.72066	0.533000	0.62120	CAC	GLIPR1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000139278		0.502	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	328	0.00	0	A	NM_006851		75875708	75875708	+1	no_errors	ENST00000266659	ensembl	human	known	69_37n	missense	248	11.74	33	SNP	1.000	C
GLOD4	51031	genome.wustl.edu	37	17	673713	673713	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:673713A>C	ENST00000301328.5	-	7	646	c.623T>G	c.(622-624)gTg>gGg	p.V208G	GLOD4_ENST00000301329.6_Missense_Mutation_p.V193G|GLOD4_ENST00000536578.1_Missense_Mutation_p.V184G			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	208						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCATGGTCCACCCCACCCTT	0.453																																						dbGAP											0													209.0	205.0	207.0					17																	673713		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.623T>G	17.37:g.673713A>C	ENSP00000301328:p.Val208Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	NULL	p.V208G	ENST00000301328.5	37	c.623		17	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342807	0.61073	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.50813	0.74;0.75;0.73	5.79	5.79	0.91817	.	0.168619	0.51477	D	0.000089	T	0.71508	0.3348	M	0.86805	2.84	0.80722	D	1	D;D;D	0.56968	0.966;0.967;0.978	D;P;P	0.66602	0.945;0.892;0.868	T	0.75819	-0.3183	10	0.52906	T	0.07	-8.4194	15.3114	0.74035	1.0:0.0:0.0:0.0	.	184;208;193	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	G	193;396;208;184	ENSP00000301329:V193G;ENSP00000301328:V208G;ENSP00000444315:V184G	ENSP00000301328:V208G	V	-	2	0	GLOD4	620463	1.000000	0.71417	0.666000	0.29783	0.006000	0.05464	9.189000	0.94928	2.218000	0.71995	0.533000	0.62120	GTG	GLOD4	-	NULL	ENSG00000167699		0.453	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1	892	0.89	8	A	NM_016080		673713	673713	-1	no_errors	ENST00000301328	ensembl	human	known	69_37n	missense	572	18.14	127	SNP	1.000	C
GLOD4	51031	genome.wustl.edu	37	17	673718	673718	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:673718A>C	ENST00000301328.5	-	7	641	c.618T>G	c.(616-618)ggT>ggG	p.G206G	GLOD4_ENST00000301329.6_Silent_p.G191G|GLOD4_ENST00000536578.1_Silent_p.G182G			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	206						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGTCCACCCCACCCTTGACGC	0.453																																						dbGAP											0													201.0	198.0	199.0					17																	673718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.618T>G	17.37:g.673718A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	NULL	p.W29G	ENST00000301328.5	37	c.85		17																																																																																			GLOD4	-	NULL	ENSG00000167699		0.453	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1	882	0.67	6	A	NM_016080		673718	673718	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000575528	ensembl	human	known	69_37n	missense	538	23.30	164	SNP	0.030	C
GLOD5	392465	genome.wustl.edu	37	X	48631920	48631920	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48631920A>C	ENST00000303227.6	+	0	593				GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5											endometrium(1)|lung(2)	3						GCAAACCCCCACCCAGGCCCA	0.552																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.*69A>C	X.37:g.48631920A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000303227.6	37	NULL	CCDS55410.1	X																																																																																			GLOD5	-	-	ENSG00000171433		0.552	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLOD5	HGNC	protein_coding		113	0.88	1	A	NM_001080489		48631920	48631920	+1	no_errors	ENST00000470676	ensembl	human	known	69_37n	rna	120	25.61	42	SNP	0.000	C
GLYAT	10249	genome.wustl.edu	37	11	58477514	58477514	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:58477514T>G	ENST00000344743.3	-	6	757	c.616A>C	c.(616-618)Acc>Ccc	p.T206P	GLYAT_ENST00000529732.1_Missense_Mutation_p.T206P	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	206					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AGACAGCAGGTGGGAAAGGTC	0.532																																						dbGAP											0													77.0	80.0	79.0					11																	58477514		2201	4295	6496	-	-	-	SO:0001583	missense	0			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.616A>C	11.37:g.58477514T>G	ENSP00000340200:p.Thr206Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14833|Q96QK7	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.T206P	ENST00000344743.3	37	c.616	CCDS7970.1	11	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524964	0.27299	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.17854	2.25;2.25	6.06	2.26	0.28386	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.534243	0.21334	N	0.076247	T	0.25457	0.0619	M	0.72118	2.19	0.09310	N	1	P	0.50066	0.931	P	0.48738	0.588	T	0.07121	-1.0789	10	0.62326	D	0.03	-11.5496	9.2656	0.37639	0.417:0.0:0.0:0.583	.	206	Q6IB77	GLYAT_HUMAN	P	206	ENSP00000340200:T206P;ENSP00000431688:T206P	ENSP00000340200:T206P	T	-	1	0	GLYAT	58234090	0.000000	0.05858	0.018000	0.16275	0.045000	0.14185	0.116000	0.15561	0.494000	0.27859	0.528000	0.53228	ACC	GLYAT	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase	ENSG00000149124		0.532	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	HGNC	protein_coding	OTTHUMT00000394593.1	95	0.00	0	T			58477514	58477514	-1	no_errors	ENST00000344743	ensembl	human	known	69_37n	missense	82	21.15	22	SNP	0.023	G
GLYATL1	92292	genome.wustl.edu	37	11	58722668	58722668	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:58722668T>G	ENST00000317391.4	+	7	673	c.333T>G	c.(331-333)ggT>ggG	p.G111G	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Silent_p.G142G	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	111						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAAGTTTAGGTGAGGGGATAA	0.438																																						dbGAP											0													118.0	118.0	118.0					11																	58722668		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.333T>G	11.37:g.58722668T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.G142	ENST00000317391.4	37	c.426	CCDS55768.1	11																																																																																			GLYATL1	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase	ENSG00000166840		0.438	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL1	HGNC	protein_coding	OTTHUMT00000393783.1	266	0.00	0	T	NM_080661		58722668	58722668	+1	no_errors	ENST00000300079	ensembl	human	known	69_37n	silent	132	12.42	19	SNP	0.002	G
GNL3L	54552	genome.wustl.edu	37	X	54578329	54578329	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:54578329A>C	ENST00000336470.4	+	12	1242	c.1103A>C	c.(1102-1104)cAc>cCc	p.H368P	GNL3L_ENST00000360845.2_Missense_Mutation_p.H368P	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	368					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCAGTGGCCCACCGTTTGGGG	0.542																																						dbGAP											0													72.0	65.0	67.0					X																	54578329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1103A>C	X.37:g.54578329A>C	ENSP00000338573:p.His368Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain	p.H368P	ENST00000336470.4	37	c.1103	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807279	0.31961	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17213	2.29;2.29	4.24	3.09	0.35607	GTP-binding protein, orthogonal bundle domain (1);	0.171089	0.47455	D	0.000238	T	0.12732	0.0309	L	0.43923	1.385	0.34569	D	0.713264	B	0.20164	0.042	B	0.17979	0.02	T	0.11060	-1.0603	10	0.66056	D	0.02	-13.6085	4.0661	0.09861	0.7578:0.0:0.2422:0.0	.	368	Q9NVN8	GNL3L_HUMAN	P	368	ENSP00000338573:H368P;ENSP00000354091:H368P	ENSP00000338573:H368P	H	+	2	0	GNL3L	54595054	0.044000	0.20184	0.998000	0.56505	0.738000	0.42128	1.700000	0.37815	1.641000	0.50575	0.430000	0.28490	CAC	GNL3L	-	NULL	ENSG00000130119		0.542	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	208	0.00	0	A	NM_019067		54578329	54578329	+1	no_errors	ENST00000336470	ensembl	human	known	69_37n	missense	253	10.53	30	SNP	0.997	C
GOLGA4	2803	genome.wustl.edu	37	3	37368276	37368276	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:37368276T>G	ENST00000361924.2	+	14	5273	c.4899T>G	c.(4897-4899)agT>agG	p.S1633R	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1655R	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1633	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTCAGAAAGTGCTGCAAAAT	0.348																																						dbGAP											0													72.0	78.0	76.0					3																	37368276		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4899T>G	3.37:g.37368276T>G	ENSP00000354486:p.Ser1633Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.S1633R	ENST00000361924.2	37	c.4899	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356662	0.61293	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27557	1.66;1.66;1.66	5.34	4.19	0.49359	.	0.602048	0.13930	N	0.352958	T	0.38453	0.1041	M	0.67953	2.075	0.23568	N	0.997391	P;P;P;P	0.49783	0.928;0.879;0.879;0.779	P;P;P;B	0.53006	0.715;0.494;0.494;0.296	T	0.17379	-1.0371	10	0.15499	T	0.54	.	6.1051	0.20069	0.0:0.31:0.0:0.69	.	1633;1633;1655;1633	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	R	1633;1655;1504	ENSP00000354486:S1633R;ENSP00000349305:S1655R;ENSP00000405842:S1504R	ENSP00000349305:S1655R	S	+	3	2	GOLGA4	37343280	1.000000	0.71417	0.997000	0.53966	0.766000	0.43426	1.771000	0.38542	0.870000	0.35726	0.459000	0.35465	AGT	GOLGA4	-	NULL	ENSG00000144674		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	350	0.00	0	T	NM_002078		37368276	37368276	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	missense	344	11.57	45	SNP	0.974	G
GOLGA6D	653643	genome.wustl.edu	37	15	75580504	75580504	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:75580504T>G	ENST00000434739.3	+	6	498		c.e6+2			NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D							Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						ACTTCGAAGGTGGGAATCTGG	0.488																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.457+2T>G	15.37:g.75580504T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e6+2	ENST00000434739.3	37	c.457+2	CCDS45308.1	15	.	.	.	.	.	.	.	.	.	.	-	11.15	1.554108	0.27739	.	.	ENSG00000140478	ENST00000434739	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2691	0.15615	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA6D	73367557	1.000000	0.71417	0.614000	0.29051	0.180000	0.23129	5.056000	0.64287	0.979000	0.38497	0.104000	0.15600	.	GOLGA6D	-	-	ENSG00000140478		0.488	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	HGNC	protein_coding	OTTHUMT00000419798.1	15	0.00	0	T	NM_001145224	Intron	75580504	75580504	+1	no_errors	ENST00000434739	ensembl	human	known	69_37n	splice_site	10	44.44	8	SNP	0.999	G
GOLGB1	2804	genome.wustl.edu	37	3	121410178	121410178	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:121410178A>C	ENST00000340645.5	-	14	8143	c.8018T>G	c.(8017-8019)gTa>gGa	p.V2673G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.V2678G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2673					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATTTCACCTACCTTCTTGGC	0.388																																						dbGAP											0													202.0	207.0	205.0					3																	121410178		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8018T>G	3.37:g.121410178A>C	ENSP00000341848:p.Val2673Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.V2673G	ENST00000340645.5	37	c.8018	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465549	0.26335	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16897	2.31;2.31	5.51	4.37	0.52481	.	0.000000	0.53938	D	0.000042	T	0.32882	0.0844	M	0.70595	2.14	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.996;0.991	D;D;P	0.64877	0.93;0.93;0.86	T	0.05225	-1.0898	10	0.22706	T	0.39	.	8.9233	0.35625	0.9129:0.0:0.0871:0.0	.	2678;2678;2673	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	G	2673;2678	ENSP00000341848:V2673G;ENSP00000377275:V2678G	ENSP00000341848:V2673G	V	-	2	0	GOLGB1	122892868	0.031000	0.19500	0.994000	0.49952	0.993000	0.82548	1.911000	0.39937	2.077000	0.62373	0.533000	0.62120	GTA	GOLGB1	-	NULL	ENSG00000173230		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	573	0.35	2	A	NM_004487		121410178	121410178	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	291	11.48	38	SNP	0.958	C
GOLGB1	2804	genome.wustl.edu	37	3	121413970	121413970	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:121413970A>C	ENST00000340645.5	-	13	5510	c.5385T>G	c.(5383-5385)ggT>ggG	p.G1795G	GOLGB1_ENST00000393667.3_Silent_p.G1800G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1795					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTCAGTCTCACCTGGTATAG	0.443																																						dbGAP											0													290.0	274.0	279.0					3																	121413970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5385T>G	3.37:g.121413970A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.G1795	ENST00000340645.5	37	c.5385	CCDS3004.1	3																																																																																			GOLGB1	-	NULL	ENSG00000173230		0.443	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	425	0.70	3	A	NM_004487		121413970	121413970	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	silent	339	10.05	38	SNP	0.000	C
GOLIM4	27333	genome.wustl.edu	37	3	167742833	167742833	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:167742833A>C	ENST00000470487.1	-	13	2363	c.1674T>G	c.(1672-1674)ggT>ggG	p.G558G	GOLIM4_ENST00000309027.4_Silent_p.G530G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	558	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTCATCCTCACCTTGATTAT	0.358																																						dbGAP											0													145.0	136.0	139.0					3																	167742833		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1674T>G	3.37:g.167742833A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.G558	ENST00000470487.1	37	c.1674	CCDS3204.1	3																																																																																			GOLIM4	-	NULL	ENSG00000173905		0.358	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2	274	0.00	0	A			167742833	167742833	-1	no_errors	ENST00000470487	ensembl	human	known	69_37n	silent	245	16.27	48	SNP	0.217	C
GORAB	92344	genome.wustl.edu	37	1	170521353	170521353	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:170521353T>G	ENST00000367763.3	+	5	955	c.935T>G	c.(934-936)gTg>gGg	p.V312G		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	312	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGCTTGAGGTGGAGGTCGAG	0.473																																						dbGAP											0													84.0	76.0	79.0					1																	170521353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.935T>G	1.37:g.170521353T>G	ENSP00000356737:p.Val312Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	pfam_Golgin_RAB6-interacting	p.V312G	ENST00000367763.3	37	c.935	CCDS1289.1	1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403839	0.25291	.	.	ENSG00000120370	ENST00000367763	T	0.63913	-0.07	5.48	1.79	0.24919	.	0.412136	0.22867	N	0.054662	T	0.34687	0.0906	L	0.51422	1.61	0.58432	D	0.999999	B	0.11235	0.004	B	0.14023	0.01	T	0.27088	-1.0084	10	0.87932	D	0	-27.7075	6.4775	0.22045	0.0:0.1406:0.1319:0.7275	.	312	Q5T7V8	GORAB_HUMAN	G	312	ENSP00000356737:V312G	ENSP00000356737:V312G	V	+	2	0	GORAB	168787977	0.993000	0.37304	0.504000	0.27639	0.085000	0.17905	2.422000	0.44696	0.051000	0.15978	0.533000	0.62120	GTG	GORAB	-	NULL	ENSG00000120370		0.473	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	161	0.00	0	T	NM_152281		170521353	170521353	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	missense	207	12.18	29	SNP	0.945	G
GORASP2	26003	genome.wustl.edu	37	2	171818231	171818231	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:171818231A>C	ENST00000234160.4	+	8	1697	c.882A>C	c.(880-882)ccA>ccC	p.P294P	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.P306P	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	294	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CTTCTGTGCCACCAATGAATC	0.383																																						dbGAP											0													259.0	216.0	230.0					2																	171818231		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.882A>C	2.37:g.171818231A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Silent	SNP	pfam_GRASP55/65_PDZ,superfamily_PDZ	p.P306	ENST00000234160.4	37	c.918	CCDS33325.1	2																																																																																			GORASP2	-	pfam_GRASP55/65_PDZ	ENSG00000115806		0.383	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP2	HGNC	protein_coding	OTTHUMT00000333719.2	219	0.45	1	A			171818231	171818231	+1	no_errors	ENST00000452526	ensembl	human	known	69_37n	silent	232	10.04	26	SNP	0.996	C
GP2	2813	genome.wustl.edu	37	16	20335299	20335299	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:20335299T>G	ENST00000381362.4	-	3	450	c.374A>C	c.(373-375)cAc>cCc	p.H125P	GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.H125P	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	125					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AAGGGCAGGGTGGGTCCCATT	0.587																																						dbGAP											0													91.0	72.0	78.0					16																	20335299		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.374A>C	16.37:g.20335299T>G	ENSP00000370767:p.His125Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.H125P	ENST00000381362.4	37	c.374	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009110	0.54361	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99578	-6.21;-6.21	5.02	5.02	0.67125	.	.	.	.	.	D	0.99697	0.9885	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97515	1.0069	9	0.87932	D	0	-42.1385	12.7532	0.57320	0.0:0.0:0.0:1.0	.	125;125	P55259-3;P55259	.;GP2_HUMAN	P	125	ENSP00000304044:H125P;ENSP00000370767:H125P	ENSP00000304044:H125P	H	-	2	0	GP2	20242800	1.000000	0.71417	0.952000	0.39060	0.052000	0.14988	5.307000	0.65762	2.096000	0.63516	0.528000	0.53228	CAC	GP2	-	NULL	ENSG00000169347		0.587	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	94	0.00	0	T	NM_016295		20335299	20335299	-1	no_errors	ENST00000381362	ensembl	human	known	69_37n	missense	68	22.47	20	SNP	1.000	G
GP5	2814	genome.wustl.edu	37	3	194118254	194118254	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:194118254T>G	ENST00000401815.1	-	1	829	c.758A>C	c.(757-759)cAc>cCc	p.H253P	GP5_ENST00000323007.3_Missense_Mutation_p.H253P			P40197	GPV_HUMAN	glycoprotein V (platelet)	253					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AAACGCAAGGTGGTTTCTCGA	0.572																																						dbGAP											0													66.0	71.0	69.0					3																	194118254		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.758A>C	3.37:g.194118254T>G	ENSP00000383931:p.His253Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D1MER9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H253P	ENST00000401815.1	37	c.758	CCDS3307.1	3	.	.	.	.	.	.	.	.	.	.	T	5.110	0.205932	0.09704	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.57107	0.42;0.42	4.06	-2.82	0.05787	.	0.876208	0.09480	N	0.796462	T	0.21022	0.0506	N	0.04090	-0.28	0.09310	N	1	P	0.45768	0.866	B	0.35607	0.206	T	0.15235	-1.0444	10	0.44086	T	0.13	.	4.1887	0.10411	0.3259:0.3201:0.0:0.354	.	253	P40197	GPV_HUMAN	P	253	ENSP00000383931:H253P;ENSP00000319286:H253P	ENSP00000319286:H253P	H	-	2	0	GP5	195599543	0.000000	0.05858	0.081000	0.20488	0.081000	0.17604	-0.883000	0.04170	-0.607000	0.05738	0.374000	0.22700	CAC	GP5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178732		0.572	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	92	0.00	0	T	NM_004488		194118254	194118254	-1	no_errors	ENST00000323007	ensembl	human	known	69_37n	missense	46	25.00	16	SNP	0.011	G
GPATCH3	63906	genome.wustl.edu	37	1	27223829	27223829	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:27223829A>C	ENST00000361720.5	-	2	862	c.839T>G	c.(838-840)gTg>gGg	p.V280G		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	280	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCTTCCCCACTTCTTCCTC	0.512																																						dbGAP											0													183.0	179.0	180.0					1																	27223829		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.839T>G	1.37:g.27223829A>C	ENSP00000354645:p.Val280Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.V280G	ENST00000361720.5	37	c.839	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	a	2.440	-0.328809	0.05314	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.41400	1.0	3.11	-2.55	0.06288	.	1.125910	0.06507	N	0.737306	T	0.19208	0.0461	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14839	-1.0458	10	0.22109	T	0.4	-1.3145	0.3097	0.00286	0.2695:0.2943:0.1425:0.2937	.	280	Q96I76	GPTC3_HUMAN	G	280;262;91	ENSP00000354645:V280G	ENSP00000354645:V280G	V	-	2	0	GPATCH3	27096416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.511000	0.06321	-0.625000	0.05604	-1.927000	0.00513	GTG	GPATCH3	-	NULL	ENSG00000198746		0.512	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	128	0.78	1	A	NM_022078		27223829	27223829	-1	no_errors	ENST00000361720	ensembl	human	known	69_37n	missense	223	13.90	36	SNP	0.001	C
GPA33	10223	genome.wustl.edu	37	1	167059520	167059520	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:167059520A>C	ENST00000367868.3	-	1	348	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	2						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CATCTTCCCCACCATGGTCTT	0.572																																						dbGAP											0													262.0	178.0	206.0					1																	167059520		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.5T>G	1.37:g.167059520A>C	ENSP00000356842:p.Val2Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZP6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V2G	ENST00000367868.3	37	c.5	CCDS1258.1	1	.	.	.	.	.	.	.	.	.	.	A	2.408	-0.335999	0.05278	.	.	ENSG00000143167	ENST00000367868	T	0.77358	-1.09	4.65	-4.47	0.03525	.	1.469040	0.04381	N	0.360754	T	0.36166	0.0957	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11941	-1.0567	10	0.45353	T	0.12	.	1.6752	0.02820	0.3829:0.1306:0.3438:0.1427	.	2	Q99795	GPA33_HUMAN	G	2	ENSP00000356842:V2G	ENSP00000356842:V2G	V	-	2	0	GPA33	165326144	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-0.684000	0.05173	-1.068000	0.03156	-0.290000	0.09829	GTG	GPA33	-	NULL	ENSG00000143167		0.572	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPA33	HGNC	protein_coding	OTTHUMT00000083245.1	97	0.00	0	A	NM_005814		167059520	167059520	-1	no_errors	ENST00000367868	ensembl	human	known	69_37n	missense	126	16.34	25	SNP	0.035	C
GPD2	2820	genome.wustl.edu	37	2	157368742	157368742	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:157368742T>G	ENST00000310454.6	+	5	782	c.410T>G	c.(409-411)gTa>gGa	p.V137G	GPD2_ENST00000540309.1_Missense_Mutation_p.V137G|GPD2_ENST00000409674.1_Missense_Mutation_p.V137G|GPD2_ENST00000438166.2_Missense_Mutation_p.V137G|GPD2_ENST00000409125.4_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	137					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TATAGGATGGTAAAAGAAGCC	0.393																																						dbGAP											0													167.0	150.0	156.0					2																	157368742		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.410T>G	2.37:g.157368742T>G	ENSP00000308610:p.Val137Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_Ca-bd,prints_G3P_DH_FAD-dep,pfscan_EF_HAND_2	p.V137G	ENST00000310454.6	37	c.410	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606234	0.66445	.	.	ENSG00000115159	ENST00000310454;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.89	5.89	0.94794	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93211	0.6600	10	0.87932	D	0	.	16.3036	0.82836	0.0:0.0:0.0:1.0	.	137	P43304	GPDM_HUMAN	G	137	ENSP00000308610:V137G;ENSP00000409708:V137G;ENSP00000440892:V137G;ENSP00000386425:V137G	ENSP00000308610:V137G	V	+	2	0	GPD2	157076988	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.251000	0.74343	0.533000	0.62120	GTA	GPD2	-	pfam_FAD-dep_OxRdtase	ENSG00000115159		0.393	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	255	0.00	0	T			157368742	157368742	+1	no_errors	ENST00000310454	ensembl	human	known	69_37n	missense	155	17.99	34	SNP	1.000	G
GPN1	11321	genome.wustl.edu	37	2	27862911	27862911	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27862911T>G	ENST00000610189.1	+	10	726	c.719T>G	c.(718-720)gTg>gGg	p.V240G	GPN1_ENST00000264718.3_Splice_Site_p.V254G|GPN1_ENST00000503738.1_Splice_Site_p.V145G|GPN1_ENST00000424214.1_Splice_Site_p.V161G|SNORA36_ENST00000384004.1_RNA|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Splice_Site_p.V145G|GPN1_ENST00000407583.3_Splice_Site_p.V228G|GPN1_ENST00000515877.1_Splice_Site_p.V161G	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						TTTTGGCAGGTGGTGGGTGTC	0.358																																						dbGAP											0													268.0	270.0	269.0					2																	27862911		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.718-1T>G	2.37:g.27862911T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_ProtSyn_GTP-bd,smart_AAA+_ATPase	p.V254G	ENST00000610189.1	37	c.761		2	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937860	0.73557	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.78801	2.425	0.80722	D	1	P;P;P;P	0.51240	0.797;0.942;0.943;0.814	P;P;P;P	0.57009	0.628;0.61;0.811;0.659	T	0.42599	-0.9442	10	0.42905	T	0.14	0.1469	12.6354	0.56681	0.0:0.0:0.0:1.0	.	240;254;145;228	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	G	161;145;145;161;228;254	ENSP00000424678:V161G;ENSP00000427269:V145G;ENSP00000412170:V145G;ENSP00000398115:V161G;ENSP00000384255:V228G;ENSP00000264718:V254G	ENSP00000264718:V254G	V	+	2	0	GPN1	27716415	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.638000	0.74309	2.011000	0.59026	0.460000	0.39030	GTG	GPN1	-	pfam_Uncharacterised_ATP-bd,pfam_ProtSyn_GTP-bd	ENSG00000198522		0.358	GPN1-010	KNOWN	basic|appris_principal	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000473126.1	402	0.00	0	T	NM_007266	Missense_Mutation	27862911	27862911	+1	no_errors	ENST00000264718	ensembl	human	known	69_37n	missense	279	20.62	73	SNP	1.000	G
GPD2	2820	genome.wustl.edu	37	2	157426677	157426677	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:157426677T>G	ENST00000310454.6	+	12	1927	c.1555T>G	c.(1555-1557)Tgg>Ggg	p.W519G	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Missense_Mutation_p.W519G|GPD2_ENST00000438166.2_Missense_Mutation_p.W519G|GPD2_ENST00000409125.4_Missense_Mutation_p.W292G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	519					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGGCAAAAGGTGGCCTATTGT	0.458																																						dbGAP											0													181.0	162.0	168.0					2																	157426677		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1555T>G	2.37:g.157426677T>G	ENSP00000308610:p.Trp519Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_Ca-bd,prints_G3P_DH_FAD-dep,pfscan_EF_HAND_2	p.W519G	ENST00000310454.6	37	c.1555	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600700	0.87055	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.32	5.32	0.75619	.	0.053328	0.85682	D	0.000000	T	0.72851	0.3512	M	0.85299	2.745	0.80722	D	1	D	0.67145	0.996	P	0.61477	0.889	T	0.78357	-0.2235	10	0.66056	D	0.02	.	15.2956	0.73906	0.0:0.0:0.0:1.0	.	519	P43304	GPDM_HUMAN	G	519;292;519;519	ENSP00000308610:W519G;ENSP00000386484:W292G;ENSP00000409708:W519G;ENSP00000386425:W519G	ENSP00000308610:W519G	W	+	1	0	GPD2	157134923	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.040000	0.89188	2.015000	0.59207	0.455000	0.32223	TGG	GPD2	-	NULL	ENSG00000115159		0.458	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	133	0.75	1	T			157426677	157426677	+1	no_errors	ENST00000310454	ensembl	human	known	69_37n	missense	140	22.53	41	SNP	1.000	G
GPNMB	10457	genome.wustl.edu	37	7	23296637	23296637	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:23296637A>C	ENST00000381990.2	+	4	655	c.494A>C	c.(493-495)cAc>cCc	p.H165P	GPNMB_ENST00000539136.1_Missense_Mutation_p.H66P|GPNMB_ENST00000258733.4_Missense_Mutation_p.H165P|GPNMB_ENST00000409458.3_Missense_Mutation_p.H165P|GPNMB_ENST00000453162.2_Intron	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	165					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTTCCTCACCACCCCGGATGG	0.463																																						dbGAP											0													130.0	116.0	121.0					7																	23296637		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.494A>C	7.37:g.23296637A>C	ENSP00000371420:p.His165Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.H165P	ENST00000381990.2	37	c.494	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862584	0.32884	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.04	-2.1	0.07210	.	0.608833	0.16053	N	0.231856	T	0.09598	0.0236	N	0.11560	0.145	0.09310	N	0.999999	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.11329	0.004;0.002;0.001;0.006	T	0.22695	-1.0209	10	0.25751	T	0.34	-0.9337	17.9707	0.89112	0.8522:0.1478:0.0:0.0	.	66;165;165;165	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	P	165;200;165;165;66	ENSP00000258733:H165P;ENSP00000371420:H165P;ENSP00000386476:H165P;ENSP00000445266:H66P	ENSP00000258733:H165P	H	+	2	0	GPNMB	23263162	0.001000	0.12720	0.001000	0.08648	0.538000	0.34931	0.116000	0.15561	-0.110000	0.12022	0.459000	0.35465	CAC	GPNMB	-	NULL	ENSG00000136235		0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1	124	0.80	1	A	NM_001005340		23296637	23296637	+1	no_errors	ENST00000381990	ensembl	human	known	69_37n	missense	134	14.65	23	SNP	0.000	C
GPR110	266977	genome.wustl.edu	37	6	46993706	46993706	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:46993706A>C	ENST00000371253.2	-	4	376	c.161T>G	c.(160-162)gTg>gGg	p.V54G	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.V54G	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	54					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCTATAGGTCACCTGAAGCAG	0.398																																						dbGAP											0													71.0	73.0	73.0					6																	46993706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.161T>G	6.37:g.46993706A>C	ENSP00000360299:p.Val54Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.V54G	ENST00000371253.2	37	c.161	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347526	0.61183	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.41758	0.99	6.01	4.85	0.62838	.	0.355244	0.24083	N	0.041716	T	0.37073	0.0990	M	0.61703	1.905	0.49213	D	0.999764	D;P	0.53885	0.963;0.624	P;B	0.51742	0.678;0.154	T	0.39781	-0.9597	10	0.87932	D	0	-3.6875	8.9566	0.35820	0.9169:0.0:0.0831:0.0	.	54;54	Q5T601-2;Q5T601	.;GP110_HUMAN	G	54	ENSP00000360299:V54G	ENSP00000360289:V54G	V	-	2	0	GPR110	47101665	0.916000	0.31088	0.465000	0.27155	0.795000	0.44927	2.769000	0.47654	1.106000	0.41623	0.528000	0.53228	GTG	GPR110	-	NULL	ENSG00000153292		0.398	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	202	0.00	0	A	NM_153840		46993706	46993706	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	missense	133	14.19	22	SNP	0.635	C
GPR111	222611	genome.wustl.edu	37	6	47649836	47649836	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:47649836A>C	ENST00000296862.1	+	6	1541	c.1541A>C	c.(1540-1542)cAc>cCc	p.H514P	GPR111_ENST00000398742.2_Missense_Mutation_p.H446P|GPR111_ENST00000507065.1_Missense_Mutation_p.H446P			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	514					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCAATAACACACCACAAGGGA	0.433																																						dbGAP											0													65.0	61.0	62.0					6																	47649836		1979	4146	6125	-	-	-	SO:0001583	missense	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1541A>C	6.37:g.47649836A>C	ENSP00000296862:p.His514Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.H514P	ENST00000296862.1	37	c.1541		6	.	.	.	.	.	.	.	.	.	.	A	3.597	-0.082386	0.07141	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.41758	0.99;0.99;0.99	5.52	3.15	0.36227	GPCR, family 2-like (1);	0.183485	0.38272	N	0.001752	T	0.13841	0.0335	N	0.16098	0.37	0.18873	N	0.999985	B;P	0.42039	0.446;0.769	B;P	0.44772	0.251;0.46	T	0.10042	-1.0647	10	0.36615	T	0.2	.	10.2207	0.43194	0.8968:0.0:0.1032:0.0	.	446;514	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	P	446;514;446	ENSP00000422934:H446P;ENSP00000296862:H514P;ENSP00000381727:H446P	ENSP00000296862:H514P	H	+	2	0	GPR111	47757795	0.001000	0.12720	0.026000	0.17262	0.158000	0.22134	0.927000	0.28818	0.397000	0.25310	0.533000	0.62120	CAC	GPR111	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000164393		0.433	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	165	0.60	1	A	NM_153839		47649836	47649836	+1	no_errors	ENST00000296862	ensembl	human	known	69_37n	missense	100	19.05	24	SNP	0.350	C
GPR112	139378	genome.wustl.edu	37	X	135427230	135427230	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135427230A>C	ENST00000394143.1	+	6	1656	c.1365A>C	c.(1363-1365)tcA>tcC	p.S455S	GPR112_ENST00000287534.4_Silent_p.S392S|GPR112_ENST00000394141.1_Silent_p.S250S|GPR112_ENST00000370652.1_Silent_p.S455S|GPR112_ENST00000412101.1_Silent_p.S250S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	455					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAAGACTTCACCTGCATCTA	0.493																																						dbGAP											0													85.0	74.0	78.0					X																	135427230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1365A>C	X.37:g.135427230A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S455	ENST00000394143.1	37	c.1365	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.493	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	710	0.28	2	A			135427230	135427230	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	581	12.37	82	SNP	0.020	C
GPR112	139378	genome.wustl.edu	37	X	135427269	135427269	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135427269A>C	ENST00000394143.1	+	6	1695	c.1404A>C	c.(1402-1404)ccA>ccC	p.P468P	GPR112_ENST00000287534.4_Silent_p.P405P|GPR112_ENST00000394141.1_Silent_p.P263P|GPR112_ENST00000370652.1_Silent_p.P468P|GPR112_ENST00000412101.1_Silent_p.P263P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	468					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATCATTCCCACCTGAGCCTG	0.448																																						dbGAP											0													96.0	83.0	87.0					X																	135427269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1404A>C	X.37:g.135427269A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P468	ENST00000394143.1	37	c.1404	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	705	0.42	3	A			135427269	135427269	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	557	16.52	111	SNP	0.002	C
GPR112	139378	genome.wustl.edu	37	X	135428005	135428005	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135428005A>C	ENST00000394143.1	+	6	2431	c.2140A>C	c.(2140-2142)Acc>Ccc	p.T714P	GPR112_ENST00000287534.4_Missense_Mutation_p.T651P|GPR112_ENST00000394141.1_Missense_Mutation_p.T509P|GPR112_ENST00000370652.1_Missense_Mutation_p.T714P|GPR112_ENST00000412101.1_Missense_Mutation_p.T509P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	714					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGCAAAGGTACCACTGCCAA	0.393																																						dbGAP											0													95.0	77.0	83.0					X																	135428005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2140A>C	X.37:g.135428005A>C	ENSP00000377699:p.Thr714Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T714P	ENST00000394143.1	37	c.2140	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	13.34	2.207337	0.39003	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32272	1.49;1.49;1.46;1.59;1.46	2.64	-0.507	0.11985	.	.	.	.	.	T	0.31071	0.0785	L	0.32530	0.975	0.09310	N	1	P;D;D	0.58970	0.949;0.972;0.984	P;P;P	0.58266	0.729;0.836;0.69	T	0.14980	-1.0453	9	0.59425	D	0.04	.	2.5227	0.04683	0.4493:0.2765:0.0:0.2742	.	651;509;714	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	714;714;509;651;509	ENSP00000377699:T714P;ENSP00000359686:T714P;ENSP00000416526:T509P;ENSP00000287534:T651P;ENSP00000377697:T509P	ENSP00000287534:T651P	T	+	1	0	GPR112	135255671	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.010000	0.13242	0.123000	0.18342	0.231000	0.17811	ACC	GPR112	-	NULL	ENSG00000156920		0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	676	0.59	4	A			135428005	135428005	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	553	12.64	80	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135428008	135428008	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135428008A>C	ENST00000394143.1	+	6	2434	c.2143A>C	c.(2143-2145)Act>Cct	p.T715P	GPR112_ENST00000287534.4_Missense_Mutation_p.T652P|GPR112_ENST00000394141.1_Missense_Mutation_p.T510P|GPR112_ENST00000370652.1_Missense_Mutation_p.T715P|GPR112_ENST00000412101.1_Missense_Mutation_p.T510P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	715					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAAAGGTACCACTGCCAATGA	0.398																																						dbGAP											0													95.0	77.0	83.0					X																	135428008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2143A>C	X.37:g.135428008A>C	ENSP00000377699:p.Thr715Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T715P	ENST00000394143.1	37	c.2143	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	13.16	2.155042	0.38021	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39592	1.11;1.11;1.07;1.18;1.07	2.64	-0.44	0.12261	.	.	.	.	.	T	0.29061	0.0722	L	0.29908	0.895	0.09310	N	1	B;P;D	0.58970	0.008;0.463;0.984	B;B;P	0.45998	0.021;0.26;0.5	T	0.17048	-1.0382	9	0.62326	D	0.03	.	2.5878	0.04835	0.4568:0.2728:0.0:0.2703	.	652;510;715	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	715;715;510;652;510	ENSP00000377699:T715P;ENSP00000359686:T715P;ENSP00000416526:T510P;ENSP00000287534:T652P;ENSP00000377697:T510P	ENSP00000287534:T652P	T	+	1	0	GPR112	135255674	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.189000	0.17037	0.133000	0.18654	0.231000	0.17811	ACT	GPR112	-	NULL	ENSG00000156920		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	701	0.43	3	A			135428008	135428008	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	565	11.72	75	SNP	0.001	C
GPR112	139378	genome.wustl.edu	37	X	135428064	135428064	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135428064A>C	ENST00000394143.1	+	6	2490	c.2199A>C	c.(2197-2199)tcA>tcC	p.S733S	GPR112_ENST00000287534.4_Silent_p.S670S|GPR112_ENST00000394141.1_Silent_p.S528S|GPR112_ENST00000370652.1_Silent_p.S733S|GPR112_ENST00000412101.1_Silent_p.S528S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	733					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTGACATCACCATGGTTTG	0.398																																						dbGAP											0													92.0	70.0	77.0					X																	135428064		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2199A>C	X.37:g.135428064A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S733	ENST00000394143.1	37	c.2199	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	661	0.00	0	A			135428064	135428064	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	511	11.53	67	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135428447	135428447	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135428447T>G	ENST00000394143.1	+	6	2873	c.2582T>G	c.(2581-2583)gTt>gGt	p.V861G	GPR112_ENST00000287534.4_Missense_Mutation_p.V798G|GPR112_ENST00000394141.1_Missense_Mutation_p.V656G|GPR112_ENST00000370652.1_Missense_Mutation_p.V861G|GPR112_ENST00000412101.1_Missense_Mutation_p.V656G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	861					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGGCTGAGGTTTCTCCATTT	0.398																																						dbGAP											0													139.0	133.0	135.0					X																	135428447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2582T>G	X.37:g.135428447T>G	ENSP00000377699:p.Val861Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V861G	ENST00000394143.1	37	c.2582	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	T	7.210	0.595179	0.13875	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35605	1.34;1.34;1.3;1.44;1.3	2.99	-1.46	0.08800	.	.	.	.	.	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	0.999999	P;B;B	0.42518	0.782;0.386;0.267	B;B;B	0.34652	0.187;0.086;0.059	T	0.16394	-1.0404	9	0.62326	D	0.03	.	0.1433	0.00085	0.2408:0.1676:0.242:0.3496	.	798;656;861	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	G	861;861;656;798;656	ENSP00000377699:V861G;ENSP00000359686:V861G;ENSP00000416526:V656G;ENSP00000287534:V798G;ENSP00000377697:V656G	ENSP00000287534:V798G	V	+	2	0	GPR112	135256113	0.337000	0.24766	0.175000	0.22980	0.443000	0.32047	0.181000	0.16880	-0.105000	0.12132	0.235000	0.17854	GTT	GPR112	-	NULL	ENSG00000156920		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	1228	0.32	4	T			135428447	135428447	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	978	11.40	126	SNP	0.078	G
GPR112	139378	genome.wustl.edu	37	X	135429060	135429060	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135429060A>C	ENST00000394143.1	+	6	3486	c.3195A>C	c.(3193-3195)ccA>ccC	p.P1065P	GPR112_ENST00000287534.4_Silent_p.P1002P|GPR112_ENST00000394141.1_Silent_p.P860P|GPR112_ENST00000370652.1_Silent_p.P1065P|GPR112_ENST00000412101.1_Silent_p.P860P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1065					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGTACCACCTTTGGATC	0.473																																						dbGAP											0													277.0	254.0	262.0					X																	135429060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3195A>C	X.37:g.135429060A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P1065	ENST00000394143.1	37	c.3195	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	1196	0.50	6	A			135429060	135429060	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	935	17.49	199	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135429244	135429244	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135429244A>C	ENST00000394143.1	+	6	3670	c.3379A>C	c.(3379-3381)Acc>Ccc	p.T1127P	GPR112_ENST00000287534.4_Missense_Mutation_p.T1064P|GPR112_ENST00000394141.1_Missense_Mutation_p.T922P|GPR112_ENST00000370652.1_Missense_Mutation_p.T1127P|GPR112_ENST00000412101.1_Missense_Mutation_p.T922P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1127					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGAGACCACCCTTTTCTC	0.488																																						dbGAP											0													154.0	120.0	131.0					X																	135429244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3379A>C	X.37:g.135429244A>C	ENSP00000377699:p.Thr1127Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1127P	ENST00000394143.1	37	c.3379	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061851	0.36373	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39592	1.11;1.11;1.07;1.18;1.07	2.82	2.82	0.32997	.	.	.	.	.	T	0.48059	0.1479	L	0.29908	0.895	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.78314	0.982;0.991;0.981	T	0.21895	-1.0232	9	0.87932	D	0	.	7.1468	0.25587	1.0:0.0:0.0:0.0	.	1064;922;1127	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1127;1127;922;1064;922	ENSP00000377699:T1127P;ENSP00000359686:T1127P;ENSP00000416526:T922P;ENSP00000287534:T1064P;ENSP00000377697:T922P	ENSP00000287534:T1064P	T	+	1	0	GPR112	135256910	0.015000	0.18098	0.007000	0.13788	0.043000	0.13939	2.443000	0.44881	1.107000	0.41642	0.356000	0.21956	ACC	GPR112	-	NULL	ENSG00000156920		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	994	0.40	4	A			135429244	135429244	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	805	11.60	106	SNP	0.021	C
GPR112	139378	genome.wustl.edu	37	X	135429256	135429256	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135429256A>C	ENST00000394143.1	+	6	3682	c.3391A>C	c.(3391-3393)Acc>Ccc	p.T1131P	GPR112_ENST00000287534.4_Missense_Mutation_p.T1068P|GPR112_ENST00000394141.1_Missense_Mutation_p.T926P|GPR112_ENST00000370652.1_Missense_Mutation_p.T1131P|GPR112_ENST00000412101.1_Missense_Mutation_p.T926P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1131					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTTTTCTCTACCTCAGTTGA	0.488																																						dbGAP											0													152.0	119.0	130.0					X																	135429256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3391A>C	X.37:g.135429256A>C	ENSP00000377699:p.Thr1131Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1131P	ENST00000394143.1	37	c.3391	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	5.268	0.234809	0.09969	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32023	1.51;1.51;1.47;1.6;1.47	1.89	-0.989	0.10242	.	.	.	.	.	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.001	B;B;B	0.11329	0.006;0.003;0.001	T	0.22277	-1.0221	9	0.41790	T	0.15	.	5.8781	0.18840	0.4353:0.5647:0.0:0.0	.	1068;926;1131	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1131;1131;926;1068;926	ENSP00000377699:T1131P;ENSP00000359686:T1131P;ENSP00000416526:T926P;ENSP00000287534:T1068P;ENSP00000377697:T926P	ENSP00000287534:T1068P	T	+	1	0	GPR112	135256922	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.889000	0.28282	-0.315000	0.08703	0.356000	0.21956	ACC	GPR112	-	NULL	ENSG00000156920		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	993	0.50	5	A			135429256	135429256	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	811	10.15	92	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135429616	135429616	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135429616A>C	ENST00000394143.1	+	6	4042	c.3751A>C	c.(3751-3753)Acc>Ccc	p.T1251P	GPR112_ENST00000287534.4_Missense_Mutation_p.T1188P|GPR112_ENST00000394141.1_Missense_Mutation_p.T1046P|GPR112_ENST00000370652.1_Missense_Mutation_p.T1251P|GPR112_ENST00000412101.1_Missense_Mutation_p.T1046P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1251					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTGACTAGCACCTCTGTCTT	0.438																																						dbGAP											0													198.0	166.0	177.0					X																	135429616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3751A>C	X.37:g.135429616A>C	ENSP00000377699:p.Thr1251Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1251P	ENST00000394143.1	37	c.3751	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	9.510	1.105485	0.20632	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32272	1.49;1.49;1.46;1.59;1.46	3.05	-3.5	0.04710	.	.	.	.	.	T	0.16428	0.0395	N	0.24115	0.695	0.09310	N	1	B;B;B	0.14012	0.009;0.004;0.002	B;B;B	0.13407	0.009;0.003;0.001	T	0.27839	-1.0062	9	0.62326	D	0.03	.	3.867	0.09021	0.3052:0.4097:0.2851:0.0	.	1188;1046;1251	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1251;1251;1046;1188;1046	ENSP00000377699:T1251P;ENSP00000359686:T1251P;ENSP00000416526:T1046P;ENSP00000287534:T1188P;ENSP00000377697:T1046P	ENSP00000287534:T1188P	T	+	1	0	GPR112	135257282	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.041000	0.12084	-0.508000	0.06540	0.427000	0.28365	ACC	GPR112	-	NULL	ENSG00000156920		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	671	0.15	1	A			135429616	135429616	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	543	11.83	73	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135430584	135430584	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135430584A>C	ENST00000394143.1	+	6	5010	c.4719A>C	c.(4717-4719)acA>acC	p.T1573T	GPR112_ENST00000287534.4_Silent_p.T1510T|GPR112_ENST00000394141.1_Silent_p.T1368T|GPR112_ENST00000370652.1_Silent_p.T1573T|GPR112_ENST00000412101.1_Silent_p.T1368T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1573					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGCTTTCACACCTGCAACAG	0.428																																						dbGAP											0													132.0	123.0	126.0					X																	135430584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4719A>C	X.37:g.135430584A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1573	ENST00000394143.1	37	c.4719	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	515	0.00	0	A			135430584	135430584	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	343	17.35	72	SNP	0.008	C
GPR112	139378	genome.wustl.edu	37	X	135430846	135430846	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135430846A>C	ENST00000394143.1	+	6	5272	c.4981A>C	c.(4981-4983)Acc>Ccc	p.T1661P	GPR112_ENST00000287534.4_Missense_Mutation_p.T1598P|GPR112_ENST00000394141.1_Missense_Mutation_p.T1456P|GPR112_ENST00000370652.1_Missense_Mutation_p.T1661P|GPR112_ENST00000412101.1_Missense_Mutation_p.T1456P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1661					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACCGTTCCCACCACCATTAT	0.478																																						dbGAP											0													152.0	152.0	152.0					X																	135430846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4981A>C	X.37:g.135430846A>C	ENSP00000377699:p.Thr1661Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1661P	ENST00000394143.1	37	c.4981	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	16.40	3.112031	0.56398	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39592	1.11;1.11;1.07;1.18;1.07	3.39	2.17	0.27698	.	.	.	.	.	T	0.46112	0.1376	L	0.34521	1.04	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;P	0.71414	0.973;0.917;0.829	T	0.24799	-1.0150	9	0.30854	T	0.27	.	6.3114	0.21166	0.7466:0.2534:0.0:0.0	.	1598;1456;1661	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1661;1661;1456;1598;1456	ENSP00000377699:T1661P;ENSP00000359686:T1661P;ENSP00000416526:T1456P;ENSP00000287534:T1598P;ENSP00000377697:T1456P	ENSP00000287534:T1598P	T	+	1	0	GPR112	135258512	0.015000	0.18098	0.002000	0.10522	0.535000	0.34838	1.316000	0.33620	0.216000	0.20781	0.347000	0.21830	ACC	GPR112	-	NULL	ENSG00000156920		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	661	0.15	1	A			135430846	135430846	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	442	13.65	70	SNP	0.008	C
GPR112	139378	genome.wustl.edu	37	X	135430956	135430956	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135430956A>C	ENST00000394143.1	+	6	5382	c.5091A>C	c.(5089-5091)tcA>tcC	p.S1697S	GPR112_ENST00000287534.4_Silent_p.S1634S|GPR112_ENST00000394141.1_Silent_p.S1492S|GPR112_ENST00000370652.1_Silent_p.S1697S|GPR112_ENST00000412101.1_Silent_p.S1492S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1697					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCACATTTTCACCATTTCTAT	0.448																																						dbGAP											0													137.0	126.0	130.0					X																	135430956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5091A>C	X.37:g.135430956A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1697	ENST00000394143.1	37	c.5091	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	601	0.17	1	A			135430956	135430956	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	413	10.17	47	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135431311	135431311	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135431311A>C	ENST00000394143.1	+	6	5737	c.5446A>C	c.(5446-5448)Acc>Ccc	p.T1816P	GPR112_ENST00000287534.4_Missense_Mutation_p.T1753P|GPR112_ENST00000394141.1_Missense_Mutation_p.T1611P|GPR112_ENST00000370652.1_Missense_Mutation_p.T1816P|GPR112_ENST00000412101.1_Missense_Mutation_p.T1611P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1816					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTGAATACCCCTGTTTC	0.383																																						dbGAP											0													136.0	127.0	130.0					X																	135431311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5446A>C	X.37:g.135431311A>C	ENSP00000377699:p.Thr1816Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1816P	ENST00000394143.1	37	c.5446	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	8.926	0.962256	0.18583	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32272	1.49;1.49;1.46;1.59;1.46	3.98	-2.36	0.06663	.	.	.	.	.	T	0.15565	0.0375	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24258	0.1;0.025;0.002	B;B;B	0.27076	0.076;0.025;0.002	T	0.24440	-1.0160	9	0.52906	T	0.07	.	4.2819	0.10836	0.5115:0.1706:0.318:0.0	.	1753;1611;1816	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1816;1816;1611;1753;1611	ENSP00000377699:T1816P;ENSP00000359686:T1816P;ENSP00000416526:T1611P;ENSP00000287534:T1753P;ENSP00000377697:T1611P	ENSP00000287534:T1753P	T	+	1	0	GPR112	135258977	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.543000	0.23237	-0.826000	0.04284	0.433000	0.28618	ACC	GPR112	-	NULL	ENSG00000156920		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	503	0.40	2	A			135431311	135431311	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	322	18.48	73	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135431382	135431382	+	Silent	SNP	A	A	C	rs145599230	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135431382A>C	ENST00000394143.1	+	6	5808	c.5517A>C	c.(5515-5517)tcA>tcC	p.S1839S	GPR112_ENST00000287534.4_Silent_p.S1776S|GPR112_ENST00000394141.1_Silent_p.S1634S|GPR112_ENST00000370652.1_Silent_p.S1839S|GPR112_ENST00000412101.1_Silent_p.S1634S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1839					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGTTTATTCACCTCATAGTA	0.438																																						dbGAP											0													136.0	117.0	123.0					X																	135431382		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5517A>C	X.37:g.135431382A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1839	ENST00000394143.1	37	c.5517	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	456	0.00	0	A			135431382	135431382	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	299	12.83	44	SNP	0.019	C
GPR112	139378	genome.wustl.edu	37	X	135431603	135431603	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135431603A>C	ENST00000394143.1	+	6	6029	c.5738A>C	c.(5737-5739)cAc>cCc	p.H1913P	GPR112_ENST00000287534.4_Missense_Mutation_p.H1850P|GPR112_ENST00000394141.1_Missense_Mutation_p.H1708P|GPR112_ENST00000370652.1_Missense_Mutation_p.H1913P|GPR112_ENST00000412101.1_Missense_Mutation_p.H1708P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1913					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGACTCTACACCTTGTTCCT	0.423																																						dbGAP											0													145.0	138.0	141.0					X																	135431603		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5738A>C	X.37:g.135431603A>C	ENSP00000377699:p.His1913Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.H1913P	ENST00000394143.1	37	c.5738	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	4.961	0.178567	0.09443	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41400	1.04;1.04;1.0;1.09;1.0	3.94	2.71	0.32032	.	.	.	.	.	T	0.26557	0.0649	N	0.24115	0.695	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.001	B;B;B	0.10450	0.005;0.003;0.001	T	0.20240	-1.0281	9	0.30854	T	0.27	.	6.9002	0.24279	0.766:0.234:0.0:0.0	.	1850;1708;1913	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	1913;1913;1708;1850;1708	ENSP00000377699:H1913P;ENSP00000359686:H1913P;ENSP00000416526:H1708P;ENSP00000287534:H1850P;ENSP00000377697:H1708P	ENSP00000287534:H1850P	H	+	2	0	GPR112	135259269	0.000000	0.05858	0.001000	0.08648	0.714000	0.41099	-0.052000	0.11865	0.365000	0.24400	0.430000	0.28490	CAC	GPR112	-	NULL	ENSG00000156920		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	430	0.69	3	A			135431603	135431603	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	265	16.93	54	SNP	0.001	C
GPR112	139378	genome.wustl.edu	37	X	135431877	135431877	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135431877A>C	ENST00000394143.1	+	6	6303	c.6012A>C	c.(6010-6012)tcA>tcC	p.S2004S	GPR112_ENST00000287534.4_Silent_p.S1941S|GPR112_ENST00000394141.1_Silent_p.S1799S|GPR112_ENST00000370652.1_Silent_p.S2004S|GPR112_ENST00000412101.1_Silent_p.S1799S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2004					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTCAAAGTCACCCATTCTGA	0.458																																						dbGAP											0													115.0	100.0	105.0					X																	135431877		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6012A>C	X.37:g.135431877A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S2004	ENST00000394143.1	37	c.6012	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	334	0.00	0	A			135431877	135431877	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	226	15.99	43	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135432070	135432070	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135432070A>C	ENST00000394143.1	+	6	6496	c.6205A>C	c.(6205-6207)Acc>Ccc	p.T2069P	GPR112_ENST00000287534.4_Missense_Mutation_p.T2006P|GPR112_ENST00000394141.1_Missense_Mutation_p.T1864P|GPR112_ENST00000370652.1_Missense_Mutation_p.T2069P|GPR112_ENST00000412101.1_Missense_Mutation_p.T1864P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2069					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACCATACTCACCCGAACCAT	0.438																																						dbGAP											0													278.0	200.0	226.0					X																	135432070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6205A>C	X.37:g.135432070A>C	ENSP00000377699:p.Thr2069Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T2069P	ENST00000394143.1	37	c.6205	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	a	14.17	2.455414	0.43634	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37752	1.28;1.28;1.24;1.18;1.24	3.59	-2.48	0.06423	.	.	.	.	.	T	0.32010	0.0815	L	0.29908	0.895	0.09310	N	1	B;B;D	0.69078	0.025;0.025;0.997	B;B;P	0.57911	0.012;0.008;0.829	T	0.16988	-1.0384	9	0.72032	D	0.01	.	0.3702	0.00378	0.3906:0.1879:0.2359:0.1856	.	2006;1864;2069	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	P	2069;2069;1864;2006;1864	ENSP00000377699:T2069P;ENSP00000359686:T2069P;ENSP00000416526:T1864P;ENSP00000287534:T2006P;ENSP00000377697:T1864P	ENSP00000287534:T2006P	T	+	1	0	GPR112	135259736	0.001000	0.12720	0.000000	0.03702	0.099000	0.18886	0.941000	0.29005	-0.729000	0.04875	0.427000	0.28365	ACC	GPR112	-	NULL	ENSG00000156920		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	351	0.56	2	A			135432070	135432070	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	194	18.75	45	SNP	0.000	C
GPR119	139760	genome.wustl.edu	37	X	129519124	129519124	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:129519124T>G	ENST00000276218.2	-	1	387	c.298A>C	c.(298-300)Acc>Ccc	p.T100P		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	100					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CTGTCAAAGGTGATCAGCATG	0.592																																						dbGAP											0													128.0	126.0	126.0					X																	129519124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.298A>C	X.37:g.129519124T>G	ENSP00000276218:p.Thr100Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495H7|Q4VBN3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.T100P	ENST00000276218.2	37	c.298	CCDS14625.1	X	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841395	0.32513	.	.	ENSG00000147262	ENST00000276218	T	0.73047	-0.71	5.06	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.227331	0.38164	N	0.001794	T	0.56187	0.1968	L	0.38175	1.15	0.29541	N	0.852087	P	0.35821	0.523	B	0.37015	0.239	T	0.57694	-0.7767	10	0.87932	D	0	-3.1774	3.2275	0.06737	0.1874:0.5065:0.0:0.3061	.	100	Q8TDV5	GP119_HUMAN	P	100	ENSP00000276218:T100P	ENSP00000276218:T100P	T	-	1	0	GPR119	129346805	0.621000	0.27077	0.990000	0.47175	0.928000	0.56348	1.089000	0.30890	0.511000	0.28236	-0.502000	0.04539	ACC	GPR119	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000147262		0.592	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR119	HGNC	protein_coding	OTTHUMT00000058270.1	200	0.00	0	T	NM_178471		129519124	129519124	-1	no_errors	ENST00000276218	ensembl	human	known	69_37n	missense	229	10.85	28	SNP	0.992	G
GPR112	139378	genome.wustl.edu	37	X	135432261	135432261	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135432261A>C	ENST00000394143.1	+	6	6687	c.6396A>C	c.(6394-6396)tcA>tcC	p.S2132S	GPR112_ENST00000287534.4_Silent_p.S2069S|GPR112_ENST00000394141.1_Silent_p.S1927S|GPR112_ENST00000370652.1_Silent_p.S2132S|GPR112_ENST00000412101.1_Silent_p.S1927S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2132					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGACTATGTCACCTTCTACAA	0.473																																						dbGAP											0													172.0	116.0	135.0					X																	135432261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6396A>C	X.37:g.135432261A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S2132	ENST00000394143.1	37	c.6396	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	266	0.37	1	A			135432261	135432261	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	159	11.48	21	SNP	0.001	C
GPR125	166647	genome.wustl.edu	37	4	22389592	22389592	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:22389592T>G	ENST00000334304.5	-	19	3971	c.3702A>C	c.(3700-3702)ccA>ccC	p.P1234P	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1234					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTTGCTGGGGTGGGTTGTACT	0.478																																						dbGAP											0													110.0	102.0	105.0					4																	22389592		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3702A>C	4.37:g.22389592T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.P1234	ENST00000334304.5	37	c.3702	CCDS33964.1	4																																																																																			GPR125	-	NULL	ENSG00000152990		0.478	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	215	0.00	0	T			22389592	22389592	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	silent	200	13.30	31	SNP	0.768	G
GPR125	166647	genome.wustl.edu	37	4	22425848	22425848	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:22425848T>G	ENST00000334304.5	-	11	1840	c.1571A>C	c.(1570-1572)tAc>tCc	p.Y524S	GPR125_ENST00000502482.1_Missense_Mutation_p.Y524S|GPR125_ENST00000508133.1_Missense_Mutation_p.Y298S|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	524					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGCTAGCCGGTAGGTAGCAAT	0.483																																						dbGAP											0													78.0	68.0	71.0					4																	22425848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1571A>C	4.37:g.22425848T>G	ENSP00000334952:p.Tyr524Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.Y524S	ENST00000334304.5	37	c.1571	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626767	0.28978	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.55930	0.64;0.49	5.52	5.52	0.82312	.	0.178664	0.50627	D	0.000103	T	0.39462	0.1079	N	0.22421	0.69	0.44469	D	0.997408	B;B;B;B	0.23735	0.001;0.064;0.018;0.09	B;B;B;B	0.20955	0.009;0.032;0.018;0.016	T	0.19484	-1.0304	10	0.22109	T	0.4	-8.5918	15.6388	0.76977	0.0:0.0:0.0:1.0	.	399;524;298;524	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	S	524;298;524	ENSP00000334952:Y524S;ENSP00000421006:Y524S	ENSP00000334952:Y524S	Y	-	2	0	GPR125	22034946	1.000000	0.71417	0.945000	0.38365	0.248000	0.25809	3.538000	0.53597	2.101000	0.63845	0.459000	0.35465	TAC	GPR125	-	NULL	ENSG00000152990		0.483	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	156	0.63	1	T			22425848	22425848	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	136	21.84	38	SNP	0.996	G
GPR125	166647	genome.wustl.edu	37	4	22425852	22425852	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:22425852T>G	ENST00000334304.5	-	11	1836	c.1567A>C	c.(1567-1569)Acc>Ccc	p.T523P	GPR125_ENST00000502482.1_Missense_Mutation_p.T523P|GPR125_ENST00000508133.1_Missense_Mutation_p.T297P|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	523					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCGGTAGGTAGCAATGCGC	0.488																																						dbGAP											0													85.0	73.0	77.0					4																	22425852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1567A>C	4.37:g.22425852T>G	ENSP00000334952:p.Thr523Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.T523P	ENST00000334304.5	37	c.1567	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	T	3.712	-0.059426	0.07317	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.57273	0.62;0.41	5.52	4.14	0.48551	.	0.214869	0.49305	D	0.000150	T	0.38665	0.1049	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.34161	0.244;0.439;0.118;0.337	B;B;B;B	0.36464	0.113;0.225;0.094;0.029	T	0.27157	-1.0082	10	0.29301	T	0.29	-5.8434	11.9642	0.53025	0.0:0.0788:0.0:0.9212	.	398;523;297;523	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	P	523;297;523	ENSP00000334952:T523P;ENSP00000421006:T523P	ENSP00000334952:T523P	T	-	1	0	GPR125	22034950	0.820000	0.29190	0.059000	0.19551	0.076000	0.17211	2.196000	0.42686	2.101000	0.63845	0.459000	0.35465	ACC	GPR125	-	NULL	ENSG00000152990		0.488	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	159	0.62	1	T			22425852	22425852	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	129	22.75	38	SNP	0.007	G
GPR125	166647	genome.wustl.edu	37	4	22446697	22446697	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:22446697A>C	ENST00000334304.5	-	6	874	c.605T>G	c.(604-606)gTa>gGa	p.V202G	GPR125_ENST00000502482.1_Missense_Mutation_p.V202G|GPR125_ENST00000508133.1_5'Flank|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	202	LRRCT.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTTCTCCTTTACCCAGCGATG	0.448																																						dbGAP											0													143.0	120.0	128.0					4																	22446697		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.605T>G	4.37:g.22446697A>C	ENSP00000334952:p.Val202Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.V202G	ENST00000334304.5	37	c.605	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	A	19.46	3.832657	0.71258	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	D;D	0.90504	-2.68;-2.68	5.83	5.83	0.93111	Cysteine-rich flanking region, C-terminal (1);	0.112881	0.64402	D	0.000015	D	0.88058	0.6335	L	0.38175	1.15	0.80722	D	1	B;B;B	0.28998	0.143;0.23;0.138	B;B;B	0.33799	0.085;0.133;0.17	D	0.86766	0.1970	10	0.72032	D	0.01	0.0025	16.1925	0.82004	1.0:0.0:0.0:0.0	.	77;202;202	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	G	202	ENSP00000334952:V202G;ENSP00000421006:V202G	ENSP00000334952:V202G	V	-	2	0	GPR125	22055795	1.000000	0.71417	0.945000	0.38365	0.993000	0.82548	8.832000	0.92079	2.230000	0.72887	0.477000	0.44152	GTA	GPR125	-	smart_Cys-rich_flank_reg_C	ENSG00000152990		0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	92	0.00	0	A			22446697	22446697	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	76	19.79	19	SNP	0.998	C
GPR128	84873	genome.wustl.edu	37	3	100378562	100378562	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:100378562T>G	ENST00000273352.3	+	14	2122	c.1854T>G	c.(1852-1854)ggT>ggG	p.G618G	GPR128_ENST00000475887.1_Silent_p.G323G|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	618					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AACCCAATGGTGTTATAAAAA	0.393																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0													171.0	156.0	161.0					3																	100378562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1854T>G	3.37:g.100378562T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D94|Q86SQ2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G618	ENST00000273352.3	37	c.1854	CCDS2938.1	3																																																																																			GPR128	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000144820		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	142	0.70	1	T			100378562	100378562	+1	no_errors	ENST00000273352	ensembl	human	known	69_37n	silent	108	14.17	18	SNP	0.001	G
GPR141	353345	genome.wustl.edu	37	7	37780046	37780046	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:37780046A>C	ENST00000447769.1	+	4	340	c.51A>C	c.(49-51)acA>acC	p.T17T	GPR141_ENST00000334425.1_Silent_p.T17T|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTATAGTGACACCCCACTTAA	0.488																																						dbGAP											0													167.0	173.0	171.0					7																	37780046		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.51A>C	7.37:g.37780046A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T17	ENST00000447769.1	37	c.51	CCDS5451.1	7																																																																																			GPR141	-	NULL	ENSG00000187037		0.488	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	428	0.70	3	A	NM_181791		37780046	37780046	+1	no_errors	ENST00000334425	ensembl	human	known	69_37n	silent	289	15.00	51	SNP	0.000	C
GPR141	353345	genome.wustl.edu	37	7	37780051	37780051	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:37780051A>C	ENST00000447769.1	+	4	345	c.56A>C	c.(55-57)cAc>cCc	p.H19P	GPR141_ENST00000334425.1_Missense_Mutation_p.H19P|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACACCCCACTTAATCAGC	0.498																																						dbGAP											0													164.0	171.0	168.0					7																	37780051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.56A>C	7.37:g.37780051A>C	ENSP00000390410:p.His19Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H19P	ENST00000447769.1	37	c.56	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	A	8.788	0.929941	0.18131	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.35973	1.28;1.28;1.28	5.03	-2.1	0.07210	.	1.134080	0.06454	N	0.728197	T	0.18635	0.0447	L	0.27053	0.805	0.09310	N	1	B	0.31931	0.347	B	0.25759	0.063	T	0.19063	-1.0317	10	0.42905	T	0.14	0.3365	0.4754	0.00539	0.3902:0.1365:0.2515:0.2218	.	19	Q7Z602	GP141_HUMAN	P	19	ENSP00000396300:H19P;ENSP00000390410:H19P;ENSP00000334540:H19P	ENSP00000334540:H19P	H	+	2	0	GPR141	37746576	0.005000	0.15991	0.000000	0.03702	0.015000	0.08874	0.621000	0.24418	-0.187000	0.10516	0.528000	0.53228	CAC	GPR141	-	prints_7TM_GPCR_Rhodpsn	ENSG00000187037		0.498	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	425	0.00	0	A	NM_181791		37780051	37780051	+1	no_errors	ENST00000334425	ensembl	human	known	69_37n	missense	303	10.23	35	SNP	0.000	C
GPR149	344758	genome.wustl.edu	37	3	154055985	154055985	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:154055985T>G	ENST00000389740.2	-	4	1798	c.1699A>C	c.(1699-1701)Acc>Ccc	p.T567P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	567					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGAGATAGGGTTTTCCCTGTA	0.453																																						dbGAP											0													145.0	144.0	144.0					3																	154055985		1861	4087	5948	-	-	-	SO:0001583	missense	0			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1699A>C	3.37:g.154055985T>G	ENSP00000374390:p.Thr567Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T567P	ENST00000389740.2	37	c.1699	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996533	0.74818	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69993	-0.4994	9	0.87932	D	0	-25.0807	15.7255	0.77756	0.0:0.0:0.0:1.0	.	567	Q86SP6	GP149_HUMAN	P	567	.	ENSP00000374390:T567P	T	-	1	0	GPR149	155538679	1.000000	0.71417	0.997000	0.53966	0.651000	0.38670	7.674000	0.83992	2.117000	0.64856	0.533000	0.62120	ACC	GPR149	-	NULL	ENSG00000174948		0.453	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	180	0.55	1	T	XM_293580		154055985	154055985	-1	no_errors	ENST00000389740	ensembl	human	known	69_37n	missense	187	10.10	21	SNP	1.000	G
GPR160	26996	genome.wustl.edu	37	3	169801816	169801816	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:169801816A>C	ENST00000355897.5	+	4	664	c.56A>C	c.(55-57)aAc>aCc	p.N19T		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CGTCAAACAAACCAGCCCCTA	0.343																																						dbGAP											0													68.0	72.0	71.0					3																	169801816		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.56A>C	3.37:g.169801816A>C	ENSP00000348161:p.Asn19Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNQ2	Missense_Mutation	SNP	pfscan_GPCR_Rhodpsn_supfam	p.N19T	ENST00000355897.5	37	c.56	CCDS3211.1	3	.	.	.	.	.	.	.	.	.	.	A	3.027	-0.200538	0.06219	.	.	ENSG00000173890	ENST00000355897;ENST00000492492;ENST00000485735;ENST00000482710;ENST00000473675	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.4	0.428	0.16499	.	0.847565	0.10261	N	0.696008	T	0.09335	0.0230	L	0.36672	1.1	0.09310	N	1	B	0.22983	0.078	B	0.22601	0.04	T	0.41070	-0.9529	10	0.20046	T	0.44	.	5.0408	0.14458	0.5535:0.1611:0.2854:0.0	.	19	Q9UJ42	GP160_HUMAN	T	19	ENSP00000348161:N19T;ENSP00000419546:N19T;ENSP00000419400:N19T;ENSP00000420751:N19T	ENSP00000348161:N19T	N	+	2	0	GPR160	171284510	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.138000	0.16016	0.335000	0.23614	0.477000	0.44152	AAC	GPR160	-	NULL	ENSG00000173890		0.343	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR160	HGNC	protein_coding	OTTHUMT00000352167.1	165	0.00	0	A	NM_014373		169801816	169801816	+1	no_errors	ENST00000355897	ensembl	human	known	69_37n	missense	111	18.98	26	SNP	0.000	C
GPR176	11245	genome.wustl.edu	37	15	40093343	40093343	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:40093343A>C	ENST00000561100.1	-	3	2403	c.1538T>G	c.(1537-1539)gTg>gGg	p.V513G	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Missense_Mutation_p.V512G|GPR176_ENST00000543580.1_Missense_Mutation_p.V468G|GPR176_ENST00000560729.1_5'Flank	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	513					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTAGGAATCCACCTTTGGAAA	0.493																																						dbGAP											0													118.0	106.0	110.0					15																	40093343		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1538T>G	15.37:g.40093343A>C	ENSP00000453076:p.Val513Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NXF6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V513G	ENST00000561100.1	37	c.1538	CCDS10051.1	15	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951830	0.53293	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.82711	-1.64	6.17	5.06	0.68205	.	0.117699	0.56097	D	0.000023	T	0.76630	0.4014	L	0.39898	1.24	0.80722	D	1	P	0.49635	0.926	B	0.41440	0.357	T	0.80233	-0.1467	10	0.87932	D	0	-19.5803	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	513	Q14439	GP176_HUMAN	G	513;468	ENSP00000439361:V468G	ENSP00000299092:V513G	V	-	2	0	GPR176	37880635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.806000	0.75195	2.371000	0.80710	0.533000	0.62120	GTG	GPR176	-	NULL	ENSG00000166073		0.493	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	117	0.85	1	A	NM_007223		40093343	40093343	-1	no_errors	ENST00000561100	ensembl	human	known	69_37n	missense	86	10.42	10	SNP	1.000	C
GPR21	2844	genome.wustl.edu	37	9	125797419	125797419	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125797419A>C	ENST00000373642.1	+	1	614	c.574A>C	c.(574-576)Acc>Ccc	p.T192P	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	192					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CTCCTACTTCACCCTGTTCAT	0.498																																						dbGAP											0													150.0	134.0	139.0					9																	125797419		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.574A>C	9.37:g.125797419A>C	ENSP00000362746:p.Thr192Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.T192P	ENST00000373642.1	37	c.574	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249982	0.59212	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.72725	-0.68	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.072467	0.51477	U	0.000083	D	0.84492	0.5484	M	0.83223	2.63	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	D	0.87110	0.2184	10	0.87932	D	0	-14.9513	15.5523	0.76164	1.0:0.0:0.0:0.0	.	192	Q99679	GPR21_HUMAN	P	192	ENSP00000362746:T192P	ENSP00000362746:T192P	T	+	1	0	GPR21	124837240	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.962000	0.93254	2.075000	0.62263	0.383000	0.25322	ACC	GPR21	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000188394		0.498	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	222	0.00	0	A	NM_005294		125797419	125797419	+1	no_errors	ENST00000373642	ensembl	human	known	69_37n	missense	152	15.38	28	SNP	1.000	C
GPR45	11250	genome.wustl.edu	37	2	105859234	105859234	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:105859234A>C	ENST00000258456.1	+	1	1035	c.919A>C	c.(919-921)Acc>Ccc	p.T307P		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGCCACCAGCACCTGCGTCCT	0.572																																						dbGAP											0													142.0	137.0	139.0					2																	105859234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.919A>C	2.37:g.105859234A>C	ENSP00000258456:p.Thr307Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T307P	ENST00000258456.1	37	c.919	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257847	0.39896	.	.	ENSG00000135973	ENST00000258456	T	0.37752	1.18	4.63	0.833	0.18875	GPCR, rhodopsin-like superfamily (1);	0.340090	0.29034	N	0.013349	T	0.37652	0.1011	L	0.39566	1.225	0.34185	D	0.671333	P	0.49090	0.919	P	0.57371	0.819	T	0.47497	-0.9113	10	0.56958	D	0.05	-18.1379	4.3372	0.11092	0.6297:0.0:0.1803:0.19	.	307	Q9Y5Y3	GPR45_HUMAN	P	307	ENSP00000258456:T307P	ENSP00000258456:T307P	T	+	1	0	GPR45	105225666	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	1.905000	0.39878	0.060000	0.16281	0.374000	0.22700	ACC	GPR45	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000135973		0.572	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	194	0.00	0	A	NM_007227		105859234	105859234	+1	no_errors	ENST00000258456	ensembl	human	known	69_37n	missense	94	17.54	20	SNP	1.000	C
GPR50	9248	genome.wustl.edu	37	X	150349821	150349821	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:150349821A>C	ENST00000218316.3	+	2	1835	c.1766A>C	c.(1765-1767)gAc>gCc	p.D589A	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	589	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GACCTTCCTGACCCTACTGTA	0.537																																						dbGAP											0													131.0	133.0	132.0					X																	150349821		2146	4249	6395	-	-	-	SO:0001583	missense	0			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1766A>C	X.37:g.150349821A>C	ENSP00000218316:p.Asp589Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.D589A	ENST00000218316.3	37	c.1766	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	A	9.413	1.081006	0.20309	.	.	ENSG00000102195	ENST00000218316	T	0.78364	-1.17	2.82	1.6	0.23607	.	0.412831	0.17882	N	0.158834	T	0.53142	0.1778	N	0.14661	0.345	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.48822	-0.9001	10	0.87932	D	0	0.0402	1.9611	0.03386	0.5742:0.0:0.1536:0.2722	.	589	Q13585	MTR1L_HUMAN	A	589	ENSP00000218316:D589A	ENSP00000218316:D589A	D	+	2	0	GPR50	150100479	0.038000	0.19896	0.001000	0.08648	0.002000	0.02628	0.162000	0.16501	0.339000	0.23719	-0.553000	0.04205	GAC	GPR50	-	NULL	ENSG00000102195		0.537	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	226	0.44	1	A	NM_004224		150349821	150349821	+1	no_errors	ENST00000218316	ensembl	human	known	69_37n	missense	184	13.55	29	SNP	0.012	C
GPR83	10888	genome.wustl.edu	37	11	94113575	94113575	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:94113575T>G	ENST00000243673.2	-	4	1183	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	GPR83_ENST00000539203.2_Missense_Mutation_p.T296P	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	338					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTATAGCAGGTGCTGCTCATG	0.522																																						dbGAP											0													163.0	143.0	149.0					11																	94113575		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1012A>C	11.37:g.94113575T>G	ENSP00000243673:p.Thr338Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.T338P	ENST00000243673.2	37	c.1012	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926184	0.73327	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.71461	-0.57;-0.57	5.75	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85594	0.1248	10	0.72032	D	0.01	.	10.6396	0.45586	0.0:0.0756:0.0:0.9243	.	338	Q9NYM4	GPR83_HUMAN	P	338;296	ENSP00000243673:T338P;ENSP00000441550:T296P	ENSP00000243673:T338P	T	-	1	0	GPR83	93753223	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.818000	0.86416	1.016000	0.39470	-0.250000	0.11733	ACC	GPR83	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000123901		0.522	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	179	0.00	0	T	NM_016540		94113575	94113575	-1	no_errors	ENST00000243673	ensembl	human	known	69_37n	missense	116	12.69	17	SNP	1.000	G
GPR85	54329	genome.wustl.edu	37	7	112724260	112724260	+	Missense_Mutation	SNP	T	T	G	rs17852761		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:112724260T>G	ENST00000297146.3	-	3	1120	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.T173P|GPR85_ENST00000449591.1_Missense_Mutation_p.T173P|GPR85_ENST00000424100.1_Missense_Mutation_p.T173P	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	173					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGTTGGAAGGTGCATTGATCT	0.498																																						dbGAP											0													88.0	79.0	82.0					7																	112724260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.517A>C	7.37:g.112724260T>G	ENSP00000297146:p.Thr173Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.T173P	ENST00000297146.3	37	c.517	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538237	0.45176	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.095624	0.64402	D	0.000001	T	0.46367	0.1389	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	T	0.37865	-0.9687	10	0.37606	T	0.19	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	173	P60893	GPR85_HUMAN	P	173	ENSP00000445808:T173P;ENSP00000297146:T173P;ENSP00000396763:T173P;ENSP00000401178:T173P	ENSP00000297146:T173P	T	-	1	0	GPR85	112511496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.145000	0.71769	2.185000	0.69588	0.528000	0.53228	ACC	GPR85	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164604		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	160	0.62	1	T			112724260	112724260	-1	no_errors	ENST00000297146	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	1.000	G
GPR98	84059	genome.wustl.edu	37	5	89943343	89943343	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:89943343T>G	ENST00000405460.2	+	17	3147	c.3051T>G	c.(3049-3051)ggT>ggG	p.G1017G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1017	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGGAAGGTGAGACTGCCA	0.433																																						dbGAP											0													133.0	122.0	125.0					5																	89943343		1931	4137	6068	-	-	-	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3051T>G	5.37:g.89943343T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonstop_Mutation	SNP	pfam_Calx_beta,superfamily_ConA-like_lec_gl,smart_Calx_beta	p.*606G	ENST00000405460.2	37	c.1816	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	8.958	0.969899	0.18659	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.53	-4.01	0.04045	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.5296	0.04700	0.0985:0.2763:0.3031:0.3221	.	.	.	.	G	606	.	.	X	+	1	0	GPR98	89979099	0.012000	0.17670	0.904000	0.35570	0.921000	0.55340	-0.678000	0.05209	-1.015000	0.03375	-0.313000	0.08912	TGA	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	171	0.57	1	T	NM_032119		89943343	89943343	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000504142	ensembl	human	putative	69_37n	nonstop	102	18.90	24	SNP	0.032	G
GRB14	2888	genome.wustl.edu	37	2	165349619	165349619	+	Missense_Mutation	SNP	A	A	C	rs200745561		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:165349619A>C	ENST00000263915.3	-	14	2088	c.1550T>G	c.(1549-1551)gTg>gGg	p.V517G	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Missense_Mutation_p.V430G	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATAGAACTCCACCAGCTGTAT	0.393																																						dbGAP											0													113.0	132.0	125.0					2																	165349619		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1550T>G	2.37:g.165349619A>C	ENSP00000263915:p.Val517Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.V517G	ENST00000263915.3	37	c.1550	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119307	0.77323	.	.	ENSG00000115290	ENST00000263915;ENST00000543549	T;T	0.59364	0.27;0.27	5.75	4.56	0.56223	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88812	0.3292	10	0.87932	D	0	-11.7054	12.0342	0.53415	0.8706:0.0:0.0:0.1294	.	430;517	B7Z7F9;Q14449	.;GRB14_HUMAN	G	517;430	ENSP00000263915:V517G;ENSP00000443699:V430G	ENSP00000263915:V517G	V	-	2	0	GRB14	165057865	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.339000	0.96797	0.944000	0.37579	0.533000	0.62120	GTG	GRB14	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000115290		0.393	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	122	0.81	1	A			165349619	165349619	-1	no_errors	ENST00000263915	ensembl	human	known	69_37n	missense	72	18.18	16	SNP	1.000	C
GRB14	2888	genome.wustl.edu	37	2	165353599	165353599	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:165353599T>G	ENST00000263915.3	-	12	1839	c.1301A>C	c.(1300-1302)cAc>cCc	p.H434P	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Missense_Mutation_p.H347P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	434					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGGGACCGGTGGATAGCTAA	0.413																																						dbGAP											0													74.0	71.0	72.0					2																	165353599		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1301A>C	2.37:g.165353599T>G	ENSP00000263915:p.His434Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.H434P	ENST00000263915.3	37	c.1301	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179064	0.78564	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;D	0.92647	0.93;0.93;-3.08	6.05	4.86	0.63082	SH2 motif (1);	0.041880	0.85682	N	0.000000	D	0.95953	0.8682	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.95963	0.8963	10	0.87932	D	0	-13.7881	13.3126	0.60388	0.0:0.0:0.132:0.868	.	347;434	B7Z7F9;Q14449	.;GRB14_HUMAN	P	434;347;389	ENSP00000263915:H434P;ENSP00000443699:H347P;ENSP00000416786:H389P	ENSP00000263915:H434P	H	-	2	0	GRB14	165061845	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.841000	0.86834	1.062000	0.40625	0.528000	0.53228	CAC	GRB14	-	NULL	ENSG00000115290		0.413	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	128	0.00	0	T			165353599	165353599	-1	no_errors	ENST00000263915	ensembl	human	known	69_37n	missense	58	20.55	15	SNP	0.999	G
GRHPR	9380	genome.wustl.edu	37	9	37429673	37429673	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:37429673T>G	ENST00000318158.6	+	6	578				GRHPR_ENST00000607784.1_Intron	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase						cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		AAATGCTGGGTGGTGTCCCTA	0.607																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.494-56T>G	9.37:g.37429673T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd	p.G3	ENST00000318158.6	37	c.9	CCDS6609.1	9																																																																																			GRHPR	-	NULL	ENSG00000137106		0.607	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	46	0.00	0	T	NM_012203		37429673	37429673	+1	no_errors	ENST00000494290	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	0.000	G
GRIA4	2893	genome.wustl.edu	37	11	105623816	105623816	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:105623816A>C	ENST00000530497.1	+	3	357	c.357A>C	c.(355-357)acA>acC	p.T119T	GRIA4_ENST00000393125.2_Silent_p.T119T|GRIA4_ENST00000393127.2_Silent_p.T119T|GRIA4_ENST00000428631.2_Silent_p.T119T|GRIA4_ENST00000525187.1_Silent_p.T119T|GRIA4_ENST00000282499.5_Silent_p.T119T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	119					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CCCTCATCACACCAAGTTTCC	0.463																																						dbGAP											0													154.0	127.0	136.0					11																	105623816		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.357A>C	11.37:g.105623816A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XE8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T119	ENST00000530497.1	37	c.357	CCDS8333.1	11																																																																																			GRIA4	-	pfam_ANF_lig-bd_rcpt	ENSG00000152578		0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	167	0.00	0	A			105623816	105623816	+1	no_errors	ENST00000282499	ensembl	human	known	69_37n	silent	122	12.77	18	SNP	1.000	C
GRIN3A	116443	genome.wustl.edu	37	9	104449272	104449272	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:104449272T>G	ENST00000361820.3	-	2	1510	c.910A>C	c.(910-912)Acc>Ccc	p.T304P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	304					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGGTCCTGGGTGGAGGGGAGG	0.507																																						dbGAP											0													125.0	114.0	118.0					9																	104449272		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.910A>C	9.37:g.104449272T>G	ENSP00000355155:p.Thr304Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.T304P	ENST00000361820.3	37	c.910	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826840	0.16749	.	.	ENSG00000198785	ENST00000361820	D	0.86097	-2.07	5.82	4.67	0.58626	.	0.741427	0.13472	N	0.385327	T	0.76891	0.4051	N	0.25647	0.755	0.39730	D	0.97159	B	0.06786	0.001	B	0.06405	0.002	T	0.68232	-0.5463	10	0.29301	T	0.29	.	12.0884	0.53710	0.1353:0.0:0.0:0.8646	.	304	Q8TCU5	NMD3A_HUMAN	P	304	ENSP00000355155:T304P	ENSP00000355155:T304P	T	-	1	0	GRIN3A	103489093	0.170000	0.23016	1.000000	0.80357	0.893000	0.52053	0.390000	0.20768	1.006000	0.39211	0.455000	0.32223	ACC	GRIN3A	-	NULL	ENSG00000198785		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	162	0.00	0	T			104449272	104449272	-1	no_errors	ENST00000361820	ensembl	human	known	69_37n	missense	152	17.84	33	SNP	0.993	G
GRIP1	23426	genome.wustl.edu	37	12	66839143	66839143	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:66839143T>G	ENST00000398016.3	-	11	1412	c.1344A>C	c.(1342-1344)ccA>ccC	p.P448P	GRIP1_ENST00000359742.4_Silent_p.P500P|GRIP1_ENST00000286445.7_Silent_p.P500P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAATCAGAGGTGGAGAAGAGA	0.493																																						dbGAP											0													99.0	103.0	101.0					12																	66839143		1966	4156	6122	-	-	-	SO:0001819	synonymous_variant	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1344A>C	12.37:g.66839143T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H315P	ENST00000398016.3	37	c.944	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.366|6.366	0.435674|0.435674	0.12104|0.12104	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000543172	.|.	.|.	.|.	4.89|4.89	-2.4|-2.4	0.06583|0.06583	.|.	.|.	.|.	.|.	.|.	T|T	0.48642|0.48642	0.1511|0.1511	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43228|0.43228	-0.9404|-0.9404	4|4	.|.	.|.	.|.	-8.8109|-8.8109	5.6273|5.6273	0.17490|0.17490	0.2112:0.3837:0.0:0.4051|0.2112:0.3837:0.0:0.4051	.|.	.|.	.|.	.|.	P|P	315|268	.|.	.|.	H|T	-|-	2|1	0|0	GRIP1|GRIP1	65125410|65125410	0.034000|0.034000	0.19679|0.19679	0.998000|0.998000	0.56505|0.56505	0.661000|0.661000	0.39034|0.39034	-0.803000|-0.803000	0.04540|0.04540	-0.066000|-0.066000	0.12998|0.12998	0.445000|0.445000	0.29226|0.29226	CAC|ACC	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.493	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	146	0.00	0	T			66839143	66839143	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538164	ensembl	human	novel	69_37n	missense	116	16.55	23	SNP	0.982	G
GRM2	2912	genome.wustl.edu	37	3	51752140	51752140	+	3'UTR	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:51752140T>C	ENST00000395052.3	+	0	2865				GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCCCATACTCCCGCCCTGA	0.557																																						dbGAP											0													162.0	158.0	159.0					3																	51752140		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.*12T>C	3.37:g.51752140T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	RNA	SNP	-	NULL	ENST00000395052.3	37	NULL	CCDS2834.1	3																																																																																			GRM2	-	-	ENSG00000164082		0.557	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	116	0.85	1	T			51752140	51752140	+1	no_errors	ENST00000475478	ensembl	human	known	69_37n	rna	180	15.42	33	SNP	0.117	C
GRM3	2913	genome.wustl.edu	37	7	86468741	86468741	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:86468741A>C	ENST00000361669.2	+	4	3010	c.1911A>C	c.(1909-1911)tcA>tcC	p.S637S	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.S509S|GRM3_ENST00000546348.1_Silent_p.S229S|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	637					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAAGCCATCACCAGTCATCT	0.527																																					GBM(52;969 1098 3139 52280)	dbGAP											0													241.0	194.0	210.0					7																	86468741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1911A>C	7.37:g.86468741A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	p.S637	ENST00000361669.2	37	c.1911	CCDS5600.1	7																																																																																			GRM3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000198822		0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	194	0.51	1	A			86468741	86468741	+1	no_errors	ENST00000361669	ensembl	human	known	69_37n	silent	162	12.37	23	SNP	0.017	C
GRM8	2918	genome.wustl.edu	37	7	126173510	126173510	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:126173510T>G	ENST00000339582.2	-	9	2734	c.1926A>C	c.(1924-1926)gcA>gcC	p.A642A	GRM8_ENST00000444921.2_Silent_p.A642A|GRM8_ENST00000358373.3_Silent_p.A642A|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	642				A -> G (in Ref. 1; AAB72040). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTGTATCTGGTGCTGCAATCA	0.463										HNSCC(24;0.065)																												dbGAP											0													89.0	89.0	89.0					7																	126173510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1926A>C	7.37:g.126173510T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.A642	ENST00000339582.2	37	c.1926	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000179603		0.463	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	119	0.00	0	T			126173510	126173510	-1	no_errors	ENST00000339582	ensembl	human	known	69_37n	silent	114	10.24	13	SNP	0.999	G
GRP	2922	genome.wustl.edu	37	18	56892813	56892813	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:56892813T>G	ENST00000256857.2	+	2	327	c.229T>G	c.(229-231)Tgg>Ggg	p.W77G	GRP_ENST00000420468.2_Missense_Mutation_p.W77G|GRP_ENST00000529320.2_Missense_Mutation_p.W77G	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	77					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GTACATCAGGTGGGAAGAAGC	0.512																																						dbGAP											0													95.0	92.0	93.0					18																	56892813		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.229T>G	18.37:g.56892813T>G	ENSP00000256857:p.Trp77Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	pfam_Bombesin	p.W77G	ENST00000256857.2	37	c.229	CCDS11971.1	18	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530989	0.45073	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.44083	0.93;0.99;0.95	5.03	5.03	0.67393	.	0.279735	0.30492	N	0.009510	T	0.58337	0.2115	L	0.55990	1.75	0.42176	D	0.991661	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.961;0.994;0.998	T	0.61695	-0.7010	10	0.66056	D	0.02	-13.3274	12.2639	0.54665	0.0:0.0:0.0:1.0	.	77;77;77	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	G	77	ENSP00000256857:W77G;ENSP00000434101:W77G;ENSP00000389696:W77G	ENSP00000256857:W77G	W	+	1	0	GRP	55043793	0.972000	0.33761	0.941000	0.38009	0.409000	0.31022	1.837000	0.39201	1.893000	0.54813	0.533000	0.62120	TGG	GRP	-	NULL	ENSG00000134443		0.512	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	265	0.75	2	T	NM_002091		56892813	56892813	+1	no_errors	ENST00000256857	ensembl	human	known	69_37n	missense	189	12.44	27	SNP	0.974	G
GRPEL1	80273	genome.wustl.edu	37	4	7062611	7062611	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:7062611A>C	ENST00000264954.4	-	4	796	c.632T>G	c.(631-633)gTg>gGg	p.V211G	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	211					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CACCACCCCCACCAGGGCGGG	0.532																																						dbGAP											0													136.0	151.0	146.0					4																	7062611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.632T>G	4.37:g.7062611A>C	ENSP00000264954:p.Val211Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R783|Q549M6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.V211G	ENST00000264954.4	37	c.632	CCDS3396.1	4	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349098	0.82132	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	4.44	0.53790	GrpE nucleotide exchange factor, head (2);	0.056790	0.64402	N	0.000001	D	0.88566	0.6471	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91523	0.5236	9	0.87932	D	0	.	12.6542	0.56778	0.8617:0.1383:0.0:0.0	.	211	Q9HAV7	GRPE1_HUMAN	G	211;190	.	ENSP00000264954:V211G	V	-	2	0	GRPEL1	7113512	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.709000	0.91379	0.928000	0.37168	0.459000	0.35465	GTG	GRPEL1	-	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	ENSG00000109519		0.532	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL1	HGNC	protein_coding	OTTHUMT00000206983.2	136	0.72	1	A	NM_025196		7062611	7062611	-1	no_errors	ENST00000264954	ensembl	human	known	69_37n	missense	180	10.00	20	SNP	1.000	C
GRPEL1	80273	genome.wustl.edu	37	4	7064132	7064132	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:7064132A>C	ENST00000264954.4	-	3	451	c.287T>G	c.(286-288)gTg>gGg	p.V96G	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	96					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGCCTCCTCCACCAATTTCTG	0.398																																						dbGAP											0													160.0	153.0	155.0					4																	7064132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.287T>G	4.37:g.7064132A>C	ENSP00000264954:p.Val96Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R783|Q549M6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.V96G	ENST00000264954.4	37	c.287	CCDS3396.1	4	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589095	0.86851	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	4.69	4.69	0.59074	GrpE nucleotide exchange factor, coiled-coil (1);	0.278678	0.37857	N	0.001911	D	0.84737	0.5538	H	0.95402	3.665	0.80722	D	1	D	0.54601	0.967	P	0.58820	0.846	D	0.89618	0.3846	9	0.87932	D	0	.	14.4455	0.67347	1.0:0.0:0.0:0.0	.	96	Q9HAV7	GRPE1_HUMAN	G	96;75	.	ENSP00000264954:V96G	V	-	2	0	GRPEL1	7115033	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.717000	0.91425	1.871000	0.54225	0.379000	0.24179	GTG	GRPEL1	-	pfam_GrpE	ENSG00000109519		0.398	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL1	HGNC	protein_coding	OTTHUMT00000206983.2	58	0.00	0	A	NM_025196		7064132	7064132	-1	no_errors	ENST00000264954	ensembl	human	known	69_37n	missense	82	24.07	26	SNP	1.000	C
GRPR	2925	genome.wustl.edu	37	X	16142183	16142183	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:16142183A>C	ENST00000380289.2	+	1	505	c.107A>C	c.(106-108)cAc>cCc	p.H36P		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	36					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GACTGGTCCCACCCGGGGATC	0.483											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													195.0	178.0	184.0					X																	16142183		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.107A>C	X.37:g.16142183A>C	ENSP00000369643:p.His36Pro	Somatic	708	WXS	Illumina GAIIx	Phase_IV	B2R910	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.H36P	ENST00000380289.2	37	c.107	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	A	8.668	0.902062	0.17760	.	.	ENSG00000126010	ENST00000380289	T	0.35789	1.29	5.72	3.27	0.37495	.	0.579467	0.19588	N	0.110700	T	0.27765	0.0683	L	0.47716	1.5	0.35607	D	0.808332	B	0.23249	0.082	B	0.21917	0.037	T	0.21895	-1.0232	10	0.24483	T	0.36	-11.7205	7.8308	0.29342	0.7291:0.1365:0.0:0.1345	.	36	P30550	GRPR_HUMAN	P	36	ENSP00000369643:H36P	ENSP00000369643:H36P	H	+	2	0	GRPR	16052104	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	2.027000	0.41078	2.034000	0.60081	0.486000	0.48141	CAC	GRPR	-	NULL	ENSG00000126010		0.483	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	401	0.74	3	A	NM_005314		16142183	16142183	+1	no_errors	ENST00000380289	ensembl	human	known	69_37n	missense	340	15.63	63	SNP	0.999	C
GRPR	2925	genome.wustl.edu	37	X	16170721	16170721	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:16170721A>C	ENST00000380289.2	+	3	1506	c.1108A>C	c.(1108-1110)Acc>Ccc	p.T370P	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	370					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCGTGGCCACCTTTAGCCT	0.537																																						dbGAP											0													166.0	153.0	158.0					X																	16170721		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1108A>C	X.37:g.16170721A>C	ENSP00000369643:p.Thr370Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R910	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.T370P	ENST00000380289.2	37	c.1108	CCDS14174.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.40|15.40	2.823739|2.823739	0.50739|0.50739	.|.	.|.	ENSG00000126010|ENSG00000126010	ENST00000535371|ENST00000380289	.|T	.|0.66638	.|-0.22	5.62|5.62	4.43|4.43	0.53597|0.53597	.|.	.|0.275542	.|0.34291	.|N	.|0.004096	T|T	0.61198|0.61198	0.2328|0.2328	M|M	0.65498|0.65498	2.005|2.005	0.37038|0.37038	D|D	0.897028|0.897028	.|P	.|0.37731	.|0.607	.|B	.|0.34180	.|0.177	T|T	0.64373|0.64373	-0.6423|-0.6423	5|10	.|0.44086	.|T	.|0.13	-29.8486|-29.8486	10.1257|10.1257	0.42648|0.42648	0.9205:0.0:0.0795:0.0|0.9205:0.0:0.0795:0.0	.|.	.|370	.|P30550	.|GRPR_HUMAN	P|P	158|370	.|ENSP00000369643:T370P	.|ENSP00000369643:T370P	H|T	+|+	2|1	0|0	GRPR|GRPR	16080642|16080642	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	4.080000|4.080000	0.57620|0.57620	0.740000|0.740000	0.32651|0.32651	0.486000|0.486000	0.48141|0.48141	CAC|ACC	GRPR	-	prints_Gastrin_pep_rcpt	ENSG00000126010		0.537	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	316	0.63	2	A	NM_005314		16170721	16170721	+1	no_errors	ENST00000380289	ensembl	human	known	69_37n	missense	238	17.36	50	SNP	1.000	C
GSDMC	56169	genome.wustl.edu	37	8	130762327	130762327	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:130762327A>C	ENST00000276708.4	-	12	2003	c.1122T>G	c.(1120-1122)ggT>ggG	p.G374G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	374						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGATGGCACCACCAGGGCCAT	0.378																																						dbGAP											0													35.0	35.0	35.0					8																	130762327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1122T>G	8.37:g.130762327A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKF3|Q6P494	Silent	SNP	pfam_Gasdermin	p.G374	ENST00000276708.4	37	c.1122	CCDS6360.1	8																																																																																			GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.378	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	70	0.00	0	A			130762327	130762327	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	silent	52	21.21	14	SNP	0.000	C
GSDMC	56169	genome.wustl.edu	37	8	130774949	130774949	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:130774949A>C	ENST00000276708.4	-	5	1480	c.599T>G	c.(598-600)gTg>gGg	p.V200G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	200						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTCACTCTGAGACT	0.463																																						dbGAP											0													202.0	180.0	187.0					8																	130774949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.599T>G	8.37:g.130774949A>C	ENSP00000276708:p.Val200Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.V200G	ENST00000276708.4	37	c.599	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	A	7.311	0.614949	0.14129	.	.	ENSG00000147697	ENST00000276708	T	0.21543	2.0	4.13	-8.25	0.01025	.	1.622190	0.03789	N	0.262515	T	0.16685	0.0401	N	0.17082	0.46	0.09310	N	1	D	0.61080	0.989	P	0.59357	0.856	T	0.36187	-0.9758	10	0.23302	T	0.38	.	1.2441	0.01969	0.4572:0.2461:0.1061:0.1906	.	200	Q9BYG8	GSDMC_HUMAN	G	200	ENSP00000276708:V200G	ENSP00000276708:V200G	V	-	2	0	GSDMC	130844131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.656000	0.00854	-2.086000	0.00863	-0.892000	0.02923	GTG	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.463	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	423	0.00	0	A			130774949	130774949	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	missense	407	12.21	57	SNP	0.000	C
GSG2	83903	genome.wustl.edu	37	17	3629294	3629294	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3629294A>C	ENST00000325418.4	+	1	2084	c.2065A>C	c.(2065-2067)Acc>Ccc	p.T689P	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	689	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CATTGACTACACCCTGTCGCG	0.498																																						dbGAP											0													135.0	117.0	123.0					17																	3629294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2065A>C	17.37:g.3629294A>C	ENSP00000325290:p.Thr689Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.T689P	ENST00000325418.4	37	c.2065	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792141	0.50102	.	.	ENSG00000177602	ENST00000325418	T	0.09538	2.97	5.41	5.41	0.78517	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.160948	0.41712	D	0.000821	T	0.35711	0.0941	M	0.84156	2.68	0.58432	D	0.999996	D	0.71674	0.998	D	0.79784	0.993	T	0.20240	-1.0281	10	0.87932	D	0	-34.8617	13.4721	0.61287	1.0:0.0:0.0:0.0	.	689	Q8TF76	HASP_HUMAN	P	689	ENSP00000325290:T689P	ENSP00000325290:T689P	T	+	1	0	GSG2	3576043	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	5.117000	0.64667	2.184000	0.69523	0.533000	0.62120	ACC	GSG2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000177602		0.498	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	106	0.93	1	A	NM_031965		3629294	3629294	+1	no_errors	ENST00000325418	ensembl	human	known	69_37n	missense	89	20.35	23	SNP	1.000	C
GSK3B	2932	genome.wustl.edu	37	3	119721034	119721034	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119721034A>C	ENST00000264235.8	-	2	1123	c.141T>G	c.(139-141)ggT>ggG	p.G47G	GSK3B_ENST00000316626.5_Silent_p.G47G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	47					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GCCTGTCTGGACCCTGCCCAG	0.438																																						dbGAP											0													195.0	188.0	190.0					3																	119721034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.141T>G	3.37:g.119721034A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN89|Q9BWH3|Q9UL47	Silent	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,pfscan_Prot_kinase_cat_dom	p.G47	ENST00000264235.8	37	c.141	CCDS54628.1	3																																																																																			GSK3B	-	NULL	ENSG00000082701		0.438	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	409	0.73	3	A			119721034	119721034	-1	no_errors	ENST00000316626	ensembl	human	known	69_37n	silent	266	20.35	69	SNP	0.999	C
GSK3B	2932	genome.wustl.edu	37	3	119721053	119721053	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119721053A>C	ENST00000264235.8	-	2	1104	c.122T>G	c.(121-123)gTg>gGg	p.V41G	GSK3B_ENST00000316626.5_Missense_Mutation_p.V41G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	41					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AGGAGTTGCCACCACTGTTGT	0.428																																						dbGAP											0													176.0	172.0	173.0					3																	119721053		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.122T>G	3.37:g.119721053A>C	ENSP00000264235:p.Val41Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN89|Q9BWH3|Q9UL47	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,pfscan_Prot_kinase_cat_dom	p.V41G	ENST00000264235.8	37	c.122	CCDS54628.1	3	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831409	0.71258	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.61392	0.11;0.16	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.82630	2.6	0.80722	D	1	B;B	0.28208	0.129;0.203	B;B	0.36989	0.077;0.238	T	0.71017	-0.4714	10	0.87932	D	0	-7.6635	15.7739	0.78193	1.0:0.0:0.0:0.0	.	41;41	P49841;P49841-2	GSK3B_HUMAN;.	G	41	ENSP00000264235:V41G;ENSP00000324806:V41G	ENSP00000264235:V41G	V	-	2	0	GSK3B	121203743	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.706000	0.91362	2.367000	0.80283	0.529000	0.55759	GTG	GSK3B	-	NULL	ENSG00000082701		0.428	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	426	0.23	1	A			119721053	119721053	-1	no_errors	ENST00000316626	ensembl	human	known	69_37n	missense	290	13.69	46	SNP	1.000	C
GSK3B	2932	genome.wustl.edu	37	3	119721065	119721065	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119721065A>C	ENST00000264235.8	-	2	1092	c.110T>G	c.(109-111)gTg>gGg	p.V37G	GSK3B_ENST00000316626.5_Missense_Mutation_p.V37G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	37					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CACTGTTGTCACCTTGCTGCC	0.423																																						dbGAP											0													161.0	158.0	159.0					3																	119721065		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.110T>G	3.37:g.119721065A>C	ENSP00000264235:p.Val37Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN89|Q9BWH3|Q9UL47	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,pfscan_Prot_kinase_cat_dom	p.V37G	ENST00000264235.8	37	c.110	CCDS54628.1	3	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519275	0.85495	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.61040	0.14;0.19	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	M	0.82323	2.585	0.80722	D	1	P;D	0.53619	0.934;0.961	D;D	0.71656	0.942;0.974	T	0.80799	-0.1221	10	0.66056	D	0.02	-8.4938	15.7739	0.78193	1.0:0.0:0.0:0.0	.	37;37	P49841;P49841-2	GSK3B_HUMAN;.	G	37	ENSP00000264235:V37G;ENSP00000324806:V37G	ENSP00000264235:V37G	V	-	2	0	GSK3B	121203755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.706000	0.91362	2.367000	0.80283	0.529000	0.55759	GTG	GSK3B	-	NULL	ENSG00000082701		0.423	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	430	0.00	0	A			119721065	119721065	-1	no_errors	ENST00000316626	ensembl	human	known	69_37n	missense	303	17.21	63	SNP	1.000	C
GSN	2934	genome.wustl.edu	37	9	124065345	124065345	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:124065345T>G	ENST00000373818.4	+	3	573		c.e3+2		GSN_ENST00000449733.1_Splice_Site|GSN_ENST00000436847.1_Splice_Site|GSN_ENST00000341272.2_Splice_Site|GSN_ENST00000373808.2_Splice_Site|GSN_ENST00000545652.1_Splice_Site|GSN_ENST00000373823.3_Splice_Site|GSN_ENST00000394353.2_Splice_Site|GSN_ENST00000412819.1_Splice_Site	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AAGTACAAGGTGGGTTGGGCC	0.592																																						dbGAP											0													43.0	44.0	44.0					9																	124065345		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.504+2T>G	9.37:g.124065345T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	-	e3+2	ENST00000373818.4	37	c.504+2	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644217	0.87859	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0509	0.71867	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSN	123105166	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.040000	0.89188	2.152000	0.67230	0.533000	0.62120	.	GSN	-	-	ENSG00000148180		0.592	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	32	0.00	0	T	NM_000177	Intron	124065345	124065345	+1	no_errors	ENST00000373818	ensembl	human	known	69_37n	splice_site	17	22.73	5	SNP	1.000	G
GSTA5	221357	genome.wustl.edu	37	6	52701109	52701109	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:52701109A>C	ENST00000370989.2	-	3	226	c.197T>G	c.(196-198)gTg>gGg	p.V66G	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.V66G			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	66	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCTGGTCTGCACCAGCTTCAT	0.408																																						dbGAP											0													143.0	143.0	143.0					6																	52701109		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.197T>G	6.37:g.52701109A>C	ENSP00000360028:p.Val66Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZC2	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.V66G	ENST00000370989.2	37	c.197	CCDS4946.1	6	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399585	0.42512	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.07567	3.18;3.18	2.63	1.42	0.22433	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.287057	0.31949	N	0.006801	T	0.14227	0.0344	M	0.82433	2.59	0.58432	D	0.999998	P	0.51933	0.949	D	0.67900	0.954	T	0.01156	-1.1434	10	0.87932	D	0	.	5.6434	0.17577	0.7542:0.0:0.2458:0.0	.	66	Q7RTV2	GSTA5_HUMAN	G	66	ENSP00000360028:V66G;ENSP00000284562:V66G	ENSP00000284562:V66G	V	-	2	0	GSTA5	52809068	0.997000	0.39634	0.985000	0.45067	0.715000	0.41141	3.740000	0.55082	0.238000	0.21222	0.172000	0.16884	GTG	GSTA5	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000182793		0.408	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	232	0.43	1	A	NM_153699		52701109	52701109	-1	no_errors	ENST00000284562	ensembl	human	known	69_37n	missense	203	12.07	28	SNP	0.997	C
GSTM5	2949	genome.wustl.edu	37	1	110256068	110256068	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:110256068T>G	ENST00000256593.3	+	4	235				GSTM5_ENST00000369813.1_Missense_Mutation_p.V6G|GSTM5_ENST00000369812.5_Missense_Mutation_p.V66G	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGGAGCCTGGTGGCCCAACTG	0.542																																						dbGAP											0													123.0	106.0	112.0					1																	110256068		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.178-38T>G	1.37:g.110256068T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0V8|Q6PD78	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.V66G	ENST00000256593.3	37	c.197	CCDS811.1	1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450036	0.26074	.	.	ENSG00000134201	ENST00000369813;ENST00000369812	T;T	0.10192	2.9;3.94	4.23	-1.61	0.08399	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45629	-0.9248	8	0.87932	D	0	.	3.2467	0.06799	0.1388:0.0927:0.4761:0.2924	.	6	Q5T8Q9	.	G	6;66	ENSP00000358828:V6G;ENSP00000358827:V66G	ENSP00000358827:V66G	V	+	2	0	GSTM5	110057591	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.727000	0.01860	-0.381000	0.07882	0.413000	0.27773	GTG	GSTM5	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000134201		0.542	GSTM5-001	KNOWN	basic|CCDS	protein_coding	GSTM5	HGNC	protein_coding	OTTHUMT00000032200.1	109	0.00	0	T	NM_000851		110256068	110256068	+1	no_errors	ENST00000369812	ensembl	human	known	69_37n	missense	110	12.70	16	SNP	0.001	G
GTF2E1	2960	genome.wustl.edu	37	3	120495323	120495323	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:120495323A>C	ENST00000283875.5	+	4	797	c.704A>C	c.(703-705)cAc>cCc	p.H235P		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	235					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGTGGGCACCACCGGGAAGCA	0.453																																						dbGAP											0													95.0	97.0	97.0					3																	120495323		2203	4300	6503	-	-	-	SO:0001583	missense	0			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.704A>C	3.37:g.120495323A>C	ENSP00000283875:p.His235Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16103	Missense_Mutation	SNP	pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu	p.H235P	ENST00000283875.5	37	c.704	CCDS3002.1	3	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038157	0.35989	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.43688	0.94	5.06	3.82	0.43975	.	0.239217	0.44097	D	0.000484	T	0.35941	0.0949	L	0.55103	1.725	0.49687	D	0.999817	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	10	0.29301	T	0.29	-8.6623	10.8278	0.46643	0.8418:0.1582:0.0:0.0	.	235	P29083	T2EA_HUMAN	P	68;235	ENSP00000283875:H235P	ENSP00000283875:H235P	H	+	2	0	GTF2E1	121978013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.688000	0.61715	1.907000	0.55213	0.397000	0.26171	CAC	GTF2E1	-	NULL	ENSG00000153767		0.453	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E1	HGNC	protein_coding	OTTHUMT00000356770.1	339	0.00	0	A	NM_005513		120495323	120495323	+1	no_errors	ENST00000283875	ensembl	human	known	69_37n	missense	379	10.40	44	SNP	1.000	C
GTF2IRD2	84163	genome.wustl.edu	37	7	74211429	74211429	+	Missense_Mutation	SNP	T	T	G	rs377337762		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:74211429T>G	ENST00000405086.2	-	16	2611	c.2422A>C	c.(2422-2424)Acc>Ccc	p.T808P	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.T355P	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						aatttcagggtgggaaagtgg	0.483																																					NSCLC(40;560 1096 7501 40315 49546)	dbGAP											0													132.0	137.0	136.0					7																	74211429		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2422A>C	7.37:g.74211429T>G	ENSP00000385491:p.Thr808Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.T808P	ENST00000405086.2	37	c.2422	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	t	14.08	2.429851	0.43122	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	T;T	0.44482	0.92;0.92	1.74	1.74	0.24563	Ribonuclease H-like (1);	.	.	.	.	T	0.47021	0.1423	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.44544	-0.9321	9	0.62326	D	0.03	-12.1186	5.6847	0.17797	0.0:0.0:0.0:1.0	.	808	Q86UP8	GTD2A_HUMAN	P	808;355	ENSP00000385491:T808P;ENSP00000406723:T355P	ENSP00000385491:T808P	T	-	1	0	GTF2IRD2	73849365	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	1.855000	0.39378	1.084000	0.41184	0.363000	0.22086	ACC	GTF2IRD2	-	superfamily_RNaseH-like_dom	ENSG00000196275		0.483	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	234	0.00	0	T	NM_173537		74211429	74211429	-1	no_errors	ENST00000405086	ensembl	human	known	69_37n	missense	222	11.20	28	SNP	1.000	G
GTF3C2	2976	genome.wustl.edu	37	2	27556561	27556561	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27556561T>G	ENST00000359541.2	-	12	2122	c.1693A>C	c.(1693-1695)Acc>Ccc	p.T565P	AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.T565P|AC109828.1_ENST00000592265.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	565					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGCCTGGTAGGCATCCAG	0.448																																						dbGAP											0													110.0	115.0	113.0					2																	27556561		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1693A>C	2.37:g.27556561T>G	ENSP00000352536:p.Thr565Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T565P	ENST00000359541.2	37	c.1693	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844292	0.71488	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.63913	-0.07;-0.07	5.39	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.473450	0.22845	N	0.054921	T	0.61726	0.2370	L	0.29908	0.895	0.31694	N	0.641496	D;D	0.76494	0.999;0.996	D;P	0.71414	0.973;0.731	T	0.63972	-0.6516	10	0.39692	T	0.17	-13.6281	4.2404	0.10645	0.1774:0.0914:0.0:0.7313	.	565;565	Q8WUA4-2;Q8WUA4	.;TF3C2_HUMAN	P	565	ENSP00000352536:T565P;ENSP00000264720:T565P	ENSP00000264720:T565P	T	-	1	0	GTF3C2	27410065	0.851000	0.29673	0.997000	0.53966	0.990000	0.78478	1.307000	0.33516	2.054000	0.61138	0.533000	0.62120	ACC	GTF3C2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000115207		0.448	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	216	0.46	1	T			27556561	27556561	-1	no_errors	ENST00000264720	ensembl	human	known	69_37n	missense	148	13.45	23	SNP	0.974	G
GTF3C3	9330	genome.wustl.edu	37	2	197641299	197641299	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:197641299A>C	ENST00000263956.3	-	11	1534	c.1445T>G	c.(1444-1446)gTg>gGg	p.V482G		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	482					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAGATCAACCACCTTGCCATA	0.453																																						dbGAP											0													112.0	115.0	114.0					2																	197641299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1445T>G	2.37:g.197641299A>C	ENSP00000263956:p.Val482Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V482G	ENST00000263956.3	37	c.1445	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664897	0.88251	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T;T	0.19532	2.14;2.14	5.87	5.87	0.94306	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44559	-0.9320	10	0.87932	D	0	-24.2965	16.2631	0.82557	1.0:0.0:0.0:0.0	.	482	Q9Y5Q9	TF3C3_HUMAN	G	482;5	ENSP00000263956:V482G;ENSP00000394065:V5G	ENSP00000263956:V482G	V	-	2	0	GTF3C3	197349544	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.108000	0.94275	2.239000	0.73571	0.528000	0.53228	GTG	GTF3C3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000119041		0.453	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	307	0.64	2	A			197641299	197641299	-1	no_errors	ENST00000263956	ensembl	human	known	69_37n	missense	178	22.84	53	SNP	1.000	C
GTSE1	51512	genome.wustl.edu	37	22	46724632	46724632	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:46724632T>G	ENST00000454366.1	+	10	1984	c.1772T>G	c.(1771-1773)gTg>gGg	p.V591G		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	572					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCCAGGCTGGTGGATGTGTCC	0.468																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											0													109.0	106.0	107.0					22																	46724632		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1772T>G	22.37:g.46724632T>G	ENSP00000415430:p.Val591Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.V591G	ENST00000454366.1	37	c.1772	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	T	4.050	0.007015	0.07866	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06528	3.29	4.41	-7.32	0.01436	.	1.873470	0.02592	N	0.100054	T	0.04048	0.0113	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39683	-0.9602	10	0.15952	T	0.53	0.8376	1.5324	0.02538	0.252:0.2407:0.3405:0.1669	.	572;551	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	G	591;551	ENSP00000415430:V591G	ENSP00000354634:V551G	V	+	2	0	GTSE1	45103296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.849000	0.01672	-1.307000	0.02321	-1.252000	0.01501	GTG	GTSE1	-	NULL	ENSG00000075218		0.468	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	89	0.00	0	T	NM_016426		46724632	46724632	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	64	21.95	18	SNP	0.000	G
GZMA	3001	genome.wustl.edu	37	5	54404052	54404052	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:54404052T>G	ENST00000274306.6	+	4	492	c.457T>G	c.(457-459)Tgg>Ggg	p.W153G		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	153	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGTTGCAGGGTGGGGCAGGAC	0.418																																						dbGAP											0													75.0	72.0	73.0					5																	54404052		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.457T>G	5.37:g.54404052T>G	ENSP00000274306:p.Trp153Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4PHN1|Q6IB36	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.W153G	ENST00000274306.6	37	c.457	CCDS3965.1	5	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485889	0.63962	.	.	ENSG00000145649	ENST00000274306	T	0.60797	0.16	5.93	5.93	0.95920	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92614	0.6102	10	0.87932	D	0	.	16.0336	0.80603	0.0:0.0:0.0:1.0	.	153	P12544	GRAA_HUMAN	G	153	ENSP00000274306:W153G	ENSP00000274306:W153G	W	+	1	0	GZMA	54439809	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	6.130000	0.71663	2.257000	0.74773	0.533000	0.62120	TGG	GZMA	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000145649		0.418	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2	126	0.00	0	T	NM_006144		54404052	54404052	+1	no_errors	ENST00000274306	ensembl	human	known	69_37n	missense	114	19.58	28	SNP	0.997	G
H2AFY2	55506	genome.wustl.edu	37	10	71855471	71855471	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:71855471A>C	ENST00000373255.4	+	6	914	c.650A>C	c.(649-651)cAc>cCc	p.H217P		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	217	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGCATTGTCCACCCAACCACA	0.463																																						dbGAP											0													113.0	103.0	106.0					10																	71855471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.650A>C	10.37:g.71855471A>C	ENSP00000362352:p.His217Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQT2	Missense_Mutation	SNP	pfam_A1pp,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp,prints_Histone_H2A	p.H217P	ENST00000373255.4	37	c.650	CCDS7296.1	10	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386631	0.82902	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.26518	1.73;1.73	5.44	5.44	0.79542	Appr-1-p processing (2);	0.045596	0.85682	D	0.000000	T	0.47985	0.1475	M	0.67953	2.075	0.54753	D	0.999986	D	0.60575	0.988	D	0.64321	0.924	T	0.49925	-0.8887	10	0.87932	D	0	.	15.4617	0.75363	1.0:0.0:0.0:0.0	.	217	Q9P0M6	H2AW_HUMAN	P	217;151;151	ENSP00000362352:H217P;ENSP00000404584:H151P	ENSP00000362352:H217P	H	+	2	0	H2AFY2	71525477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.574000	0.90763	2.198000	0.70561	0.533000	0.62120	CAC	H2AFY2	-	pfam_A1pp,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp	ENSG00000099284		0.463	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFY2	HGNC	protein_coding	OTTHUMT00000048480.2	41	0.00	0	A	NM_018649		71855471	71855471	+1	no_errors	ENST00000373255	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	1.000	C
HABP2	3026	genome.wustl.edu	37	10	115343055	115343055	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:115343055T>G	ENST00000351270.3	+	10	1271	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G	HABP2_ENST00000542051.1_Missense_Mutation_p.V366G|HABP2_ENST00000541666.1_3'UTR	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	392	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGCTTTAGGGTGGAGAAGATA	0.438																																						dbGAP											0													108.0	108.0	108.0					10																	115343055		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1175T>G	10.37:g.115343055T>G	ENSP00000277903:p.Val392Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V392G	ENST00000351270.3	37	c.1175	CCDS7577.1	10	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348126	0.61183	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.95307	-3.67;-3.67	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97603	1.0124	10	0.87932	D	0	.	11.0748	0.48025	0.0:0.0713:0.0:0.9287	.	392	Q14520	HABP2_HUMAN	G	366;392	ENSP00000443283:V366G;ENSP00000277903:V392G	ENSP00000277903:V392G	V	+	2	0	HABP2	115333045	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	4.741000	0.62095	2.315000	0.78130	0.533000	0.62120	GTG	HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000148702		0.438	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	93	0.00	0	T	NM_004132		115343055	115343055	+1	no_errors	ENST00000351270	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	1.000	G
HABP4	22927	genome.wustl.edu	37	9	99227625	99227625	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:99227625T>G	ENST00000375249.4	+	3	594	c.519T>G	c.(517-519)ggT>ggG	p.G173G	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CTAGACCAGGTGATAGGTTTG	0.458																																						dbGAP											0													86.0	100.0	95.0					9																	99227625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.519T>G	9.37:g.99227625T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HABP4_PAIRBP1-bd	p.G173	ENST00000375249.4	37	c.519	CCDS6719.1	9																																																																																			HABP4	-	NULL	ENSG00000130956		0.458	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	251	0.79	2	T	NM_014282		99227625	99227625	+1	no_errors	ENST00000375249	ensembl	human	known	69_37n	silent	169	11.98	23	SNP	0.181	G
HARS	3035	genome.wustl.edu	37	5	140056700	140056700	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140056700A>C	ENST00000504156.1	-	9	1544	c.825T>G	c.(823-825)ggT>ggG	p.G275G	HARS_ENST00000504366.1_Splice_Site_p.G206G|HARS_ENST00000307633.3_Splice_Site_p.G215G|HARS_ENST00000448240.1_Splice_Site_p.G80G|HARS_ENST00000415192.2_Splice_Site_p.G201G|HARS_ENST00000431330.2_Splice_Site_p.G161G|HARS_ENST00000457527.2_Splice_Site_p.G255G|HARS_ENST00000438307.2_Splice_Site_p.G235G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	275					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GGGATACCCCACCTGGGGAGA	0.532																																						dbGAP											0													145.0	156.0	152.0					5																	140056700		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.824-1T>G	5.37:g.140056700A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-synth_IIa_subgr	p.G275	ENST00000504156.1	37	c.825	CCDS4237.1	5																																																																																			HARS	-	pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-synth_IIa_subgr	ENSG00000170445		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	211	0.47	1	A	NM_002109	Silent	140056700	140056700	-1	no_errors	ENST00000504156	ensembl	human	known	69_37n	silent	149	13.87	24	SNP	1.000	C
HAUS8	93323	genome.wustl.edu	37	19	17179895	17179895	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:17179895A>C	ENST00000253669.5	-	3	283	c.93T>G	c.(91-93)ggT>ggG	p.G31G	HAUS8_ENST00000593360.1_5'UTR|HAUS8_ENST00000448593.2_Splice_Site_p.G31G			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	31					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TCACTCTTCCACCTGTGGGGA	0.552																																						dbGAP											0													164.0	118.0	134.0					19																	17179895		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.92-1T>G	19.37:g.17179895A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Silent	SNP	NULL	p.G31	ENST00000253669.5	37	c.93	CCDS32948.1	19																																																																																			HAUS8	-	NULL	ENSG00000131351		0.552	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HAUS8	HGNC	protein_coding	OTTHUMT00000463015.1	14	0.00	0	A	NM_001011699	Silent	17179895	17179895	-1	no_errors	ENST00000253669	ensembl	human	known	69_37n	silent	19	20.00	5	SNP	0.995	C
HAVCR2	84868	genome.wustl.edu	37	5	156533961	156533961	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:156533961A>C	ENST00000307851.4	-	2	801	c.71T>G	c.(70-72)gTg>gGg	p.V24G	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.V24G	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	24	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGTATTCCACTTCTGAGGA	0.557																																						dbGAP											0													58.0	58.0	58.0					5																	156533961		2198	4285	6483	-	-	-	SO:0001583	missense	0			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.71T>G	5.37:g.156533961A>C	ENSP00000312002:p.Val24Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.V24G	ENST00000307851.4	37	c.71	CCDS4333.1	5	.	.	.	.	.	.	.	.	.	.	A	8.009	0.757024	0.15846	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.17691	2.26;2.55	5.51	-11.0	0.00169	Immunoglobulin subtype (1);Immunoglobulin-like (1);	2.662490	0.00939	N	0.002818	T	0.03695	0.0105	N	0.01168	-0.975	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34750	-0.9816	10	0.21540	T	0.41	0.2632	1.3126	0.02101	0.3245:0.1:0.1577:0.4178	.	24;24	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	G	24	ENSP00000312002:V24G;ENSP00000430873:V24G	ENSP00000312002:V24G	V	-	2	0	HAVCR2	156466539	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	-1.999000	0.00967	-1.703000	0.00720	GTG	HAVCR2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000135077		0.557	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	133	0.00	0	A			156533961	156533961	-1	no_errors	ENST00000307851	ensembl	human	known	69_37n	missense	144	11.66	19	SNP	0.000	C
HBS1L	10767	genome.wustl.edu	37	6	135318630	135318630	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:135318630A>C	ENST00000367837.5	-	6	910	c.704T>G	c.(703-705)gTg>gGg	p.V235G	HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000527578.1_Missense_Mutation_p.V71G|HBS1L_ENST00000367824.4_Missense_Mutation_p.V71G|HBS1L_ENST00000367826.2_Missense_Mutation_p.V193G|HBS1L_ENST00000415177.2_Missense_Mutation_p.V170G	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	235					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGACTTTTTCACCGGTGCTGG	0.493																																						dbGAP											0													138.0	119.0	125.0					6																	135318630		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.704T>G	6.37:g.135318630A>C	ENSP00000356811:p.Val235Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916,pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.V235G	ENST00000367837.5	37	c.704	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	A	5.686	0.311060	0.10733	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000529641;ENST00000527507	T;T;T;T;T;T	0.65178	-0.13;-0.14;-0.12;-0.11;-0.14;-0.12	5.97	3.6	0.41247	.	0.574823	0.19999	N	0.101365	T	0.25568	0.0622	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10019	-1.0648	10	0.27785	T	0.31	-1.4578	6.198	0.20559	0.615:0.2602:0.1247:0.0	.	193;235	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	G	235;71;170;193;71;105;71;71	ENSP00000356811:V235G;ENSP00000436256:V71G;ENSP00000389826:V170G;ENSP00000356800:V193G;ENSP00000356798:V71G;ENSP00000434533:V105G	ENSP00000356798:V71G	V	-	2	0	HBS1L	135360323	0.630000	0.27155	0.830000	0.32933	0.091000	0.18340	1.193000	0.32162	1.065000	0.40693	-0.313000	0.08912	GTG	HBS1L	-	NULL	ENSG00000112339		0.493	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	157	0.00	0	A			135318630	135318630	-1	no_errors	ENST00000367837	ensembl	human	known	69_37n	missense	120	12.41	17	SNP	0.962	C
HDAC6	10013	genome.wustl.edu	37	X	48672897	48672897	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48672897A>C	ENST00000334136.5	+	11	1035	c.857A>C	c.(856-858)cAc>cCc	p.H286P	HDAC6_ENST00000376619.2_Missense_Mutation_p.H286P|HDAC6_ENST00000413163.2_Missense_Mutation_p.H231P|HDAC6_ENST00000444343.2_Missense_Mutation_p.H300P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	286	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTCTGGCCCCACCTGAAGGCC	0.542																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													104.0	93.0	97.0					X																	48672897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.857A>C	X.37:g.48672897A>C	ENSP00000334061:p.His286Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.H300P	ENST00000334136.5	37	c.899	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042787	0.36085	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163	T;T;T;T	0.63580	0.18;0.18;0.18;-0.05	5.05	3.86	0.44501	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.75777	2.31	0.48632	D	0.999683	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	1.0;0.979;1.0	T	0.74583	-0.3617	10	0.62326	D	0.03	-17.6707	8.6934	0.34280	0.8275:0.0:0.0:0.1725	.	276;231;286	B4DZN1;E7EUZ1;Q9UBN7	.;.;HDAC6_HUMAN	P	300;286;286;286;231	ENSP00000398566:H300P;ENSP00000334061:H286P;ENSP00000365804:H286P;ENSP00000398801:H231P	ENSP00000334061:H286P	H	+	2	0	HDAC6	48557841	1.000000	0.71417	0.964000	0.40570	0.024000	0.10985	4.509000	0.60448	0.585000	0.29608	-0.586000	0.04128	CAC	HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.542	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	101	0.98	1	A	NM_006044		48672897	48672897	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	1.000	C
HDAC6	10013	genome.wustl.edu	37	X	48678616	48678616	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48678616A>C	ENST00000334136.5	+	23	2469	c.2291A>C	c.(2290-2292)cAc>cCc	p.H764P	HDAC6_ENST00000376619.2_Missense_Mutation_p.H764P|HDAC6_ENST00000444343.2_Missense_Mutation_p.H778P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	764	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CACCTCACCCACCTGCTGATG	0.577																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													80.0	64.0	69.0					X																	48678616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2291A>C	X.37:g.48678616A>C	ENSP00000334061:p.His764Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.H778P	ENST00000334136.5	37	c.2333	CCDS14306.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	24.0|24.0	4.476986|4.476986	0.84640|0.84640	.|.	.|.	ENSG00000094631|ENSG00000094631	ENST00000436813|ENST00000444343;ENST00000334136;ENST00000376619	.|T;T;T	.|0.69685	.|-0.42;-0.42;-0.42	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Histone deacetylase domain (2);	.|0.158776	.|0.56097	.|D	.|0.000039	.|D	.|0.84754	.|0.5542	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.992;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.962;0.998;0.998	.|D	.|0.88000	.|0.2755	.|10	.|0.87932	.|D	.|0	.|-25.474	11.9166|11.9166	0.52769|0.52769	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|754;127;412;764	.|B4DZN1;B3KY98;B3KVK5;Q9UBN7	.|.;.;.;HDAC6_HUMAN	.|P	-1|778;764;764	.|ENSP00000398566:H778P;ENSP00000334061:H764P;ENSP00000365804:H764P	.|ENSP00000334061:H764P	.|H	+|+	.|2	.|0	HDAC6|HDAC6	48563560|48563560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.325000|6.325000	0.72901|0.72901	1.943000|1.943000	0.56356|0.56356	0.483000|0.483000	0.47432|0.47432	.|CAC	HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	76	0.00	0	A	NM_006044		48678616	48678616	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	C
HDDC2	51020	genome.wustl.edu	37	6	125621783	125621783	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:125621783A>C	ENST00000398153.2	-	2	149	c.107T>G	c.(106-108)gTa>gGa	p.V36G	HDDC2_ENST00000608295.1_Missense_Mutation_p.V36G|HDDC2_ENST00000368377.4_Missense_Mutation_p.V36G|HDDC2_ENST00000608284.1_Missense_Mutation_p.V36G	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	36						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		ATTTCTGTATACCCAGCCAGT	0.423																																						dbGAP											0													98.0	100.0	99.0					6																	125621783		1971	4175	6146	-	-	-	SO:0001583	missense	0			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.107T>G	6.37:g.125621783A>C	ENSP00000381220:p.Val36Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	pfam_HD_domain,smart_HD/PDEase_dom	p.V36G	ENST00000398153.2	37	c.107	CCDS43503.1	6	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180513	0.78677	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.47177	0.85;0.89;0.85	5.44	5.44	0.79542	HD domain (1);	0.120243	0.56097	D	0.000029	T	0.44829	0.1312	M	0.81614	2.55	0.80722	D	1	P	0.41710	0.76	B	0.42163	0.378	T	0.57136	-0.7863	10	0.87932	D	0	-28.3848	14.4678	0.67494	1.0:0.0:0.0:0.0	.	36	Q7Z4H3	HDDC2_HUMAN	G	36	ENSP00000316242:V36G;ENSP00000381220:V36G;ENSP00000357361:V36G	ENSP00000316242:V36G	V	-	2	0	HDDC2	125663482	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	8.847000	0.92166	2.068000	0.61886	0.533000	0.62120	GTA	HDDC2	-	NULL	ENSG00000111906		0.423	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	133	0.00	0	A	NM_016063		125621783	125621783	-1	no_errors	ENST00000398153	ensembl	human	known	69_37n	missense	74	26.00	26	SNP	1.000	C
MROH7	374977	genome.wustl.edu	37	1	55119568	55119568	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:55119568A>C	ENST00000421030.2	+	3	1254	c.969A>C	c.(967-969)ccA>ccC	p.P323P	MROH7_ENST00000339553.5_Silent_p.P323P|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.P323P|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7-TTC4_ENST00000414150.2_Silent_p.P323P	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	323	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCATCTCTCCACCCTCATGCA	0.562																																						dbGAP											0													124.0	120.0	122.0					1																	55119568		2166	4252	6418	-	-	-	SO:0001819	synonymous_variant	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.969A>C	1.37:g.55119568A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	superfamily_ARM-type_fold	p.P323	ENST00000421030.2	37	c.969	CCDS41342.2	1																																																																																			HEATR8	-	NULL	ENSG00000184313		0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	220	0.89	2	A	NM_198547		55119568	55119568	+1	no_errors	ENST00000421030	ensembl	human	known	69_37n	silent	198	21.34	54	SNP	0.009	C
TTC4	7268	genome.wustl.edu	37	1	55207292	55207292	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:55207292A>C	ENST00000371281.3	+	0	1357				TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4											breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TCTTTCCGTCACCCTGGGGAT	0.572																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.*106A>C	1.37:g.55207292A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y95|Q5TA96|Q9H3I2	RNA	SNP	-	NULL	ENST00000371281.3	37	NULL	CCDS596.1	1																																																																																			HEATR8	-	-	ENSG00000184313		0.572	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000027432.1	43	0.00	0	A	NM_004623		55207292	55207292	+1	no_errors	ENST00000460155	ensembl	human	known	69_37n	rna	19	44.44	16	SNP	0.003	C
HECTD4	283450	genome.wustl.edu	37	12	112666532	112666532	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:112666532T>G	ENST00000430131.2	-	41	6482	c.5337A>C	c.(5335-5337)ccA>ccC	p.P1779P	HECTD4_ENST00000377560.5_Silent_p.P2029P|HECTD4_ENST00000550722.1_Silent_p.P2055P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1779					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGTCTATGGGTGGGAATCTGA	0.413																																						dbGAP											0													206.0	201.0	203.0					12																	112666532		1945	4134	6079	-	-	-	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5337A>C	12.37:g.112666532T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.P2029	ENST00000430131.2	37	c.6087		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.413	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		199	0.50	1	T	NM_173813		112666532	112666532	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	silent	150	16.57	30	SNP	1.000	G
HECW1	23072	genome.wustl.edu	37	7	43540893	43540893	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:43540893A>C	ENST00000395891.2	+	21	4208	c.3603A>C	c.(3601-3603)tcA>tcC	p.S1201S	HECW1_ENST00000453890.1_Silent_p.S1167S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1201					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCGATGTTCACCCTGTTCTT	0.483																																						dbGAP											0													82.0	78.0	80.0					7																	43540893		1933	4129	6062	-	-	-	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3603A>C	7.37:g.43540893A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S1201	ENST00000395891.2	37	c.3603	CCDS5469.2	7																																																																																			HECW1	-	NULL	ENSG00000002746		0.483	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	224	0.44	1	A	NM_015052		43540893	43540893	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	silent	198	13.04	30	SNP	0.938	C
HECW2	57520	genome.wustl.edu	37	2	197085561	197085561	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:197085561A>C	ENST00000260983.3	-	25	4433	c.4251T>G	c.(4249-4251)ggT>ggG	p.G1417G	HECW2_ENST00000409111.1_Silent_p.G1061G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1417	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTGTACAACACCCCTCTCAA	0.473																																						dbGAP											0													347.0	289.0	309.0					2																	197085561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4251T>G	2.37:g.197085561A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G1417	ENST00000260983.3	37	c.4251	CCDS33354.1	2																																																																																			HECW2	-	pfam_HECT,smart_HECT,pfscan_HECT	ENSG00000138411		0.473	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	260	0.76	2	A	NM_020760		197085561	197085561	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	silent	177	16.90	36	SNP	0.033	C
HECW2	57520	genome.wustl.edu	37	2	197194348	197194348	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:197194348A>C	ENST00000260983.3	-	5	704	c.522T>G	c.(520-522)ggT>ggG	p.G174G	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	174	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G174G(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCCTGAAGCACCTCCCTCCA	0.413																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											159.0	141.0	147.0					2																	197194348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.522T>G	2.37:g.197194348A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G174	ENST00000260983.3	37	c.522	CCDS33354.1	2																																																																																			HECW2	-	NULL	ENSG00000138411		0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	219	0.00	0	A	NM_020760		197194348	197194348	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	silent	145	15.70	27	SNP	1.000	C
HEG1	57493	genome.wustl.edu	37	3	124732038	124732038	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:124732038T>G	ENST00000311127.4	-	6	2452	c.2385A>C	c.(2383-2385)tcA>tcC	p.S795S	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	795					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CCAGGCTTGGTGACTTTGATT	0.473																																						dbGAP											0													135.0	142.0	140.0					3																	124732038		2038	4182	6220	-	-	-	SO:0001819	synonymous_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2385A>C	3.37:g.124732038T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.S795	ENST00000311127.4	37	c.2385	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	142	0.69	1	T	XM_087386		124732038	124732038	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	silent	136	12.74	20	SNP	0.002	G
HEPH	9843	genome.wustl.edu	37	X	65486389	65486389	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:65486389A>C	ENST00000343002.2	+	20	4016	c.3352A>C	c.(3352-3354)Acc>Ccc	p.T1118P	HEPH_ENST00000519389.1_Missense_Mutation_p.T1172P|HEPH_ENST00000374727.3_Missense_Mutation_p.T1121P|HEPH_ENST00000441993.2_Missense_Mutation_p.T1120P|HEPH_ENST00000419594.1_Missense_Mutation_p.T929P|HEPH_ENST00000336279.5_Missense_Mutation_p.T851P			Q9BQS7	HEPH_HUMAN	hephaestin	1118					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATTAGTGTCACCCTTCTGCT	0.498																																						dbGAP											0													331.0	214.0	253.0					X																	65486389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3352A>C	X.37:g.65486389A>C	ENSP00000343939:p.Thr1118Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.T1172P	ENST00000343002.2	37	c.3514		X	.	.	.	.	.	.	.	.	.	.	.	11.44	1.639741	0.29157	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99304	-5.72;-5.71;-5.71;-5.64;-5.71;-5.71	4.93	-0.643	0.11482	.	0.775970	0.11532	N	0.554616	D	0.95063	0.8401	N	0.08118	0	0.09310	N	1	B;D;B	0.52996	0.011;0.957;0.002	B;B;B	0.42916	0.001;0.402;0.001	D	0.94010	0.7283	10	0.28530	T	0.3	.	4.158	0.10270	0.4586:0.3419:0.1994:0.0	.	1172;929;1118	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	P	1172;1121;851;1120;929;1118	ENSP00000430620:T1172P;ENSP00000363859:T1121P;ENSP00000337418:T851P;ENSP00000411687:T1120P;ENSP00000413211:T929P;ENSP00000343939:T1118P	ENSP00000337418:T851P	T	+	1	0	HEPH	65403114	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.139000	0.16036	-0.038000	0.13624	-0.314000	0.08810	ACC	HEPH	-	NULL	ENSG00000089472		0.498	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	211	0.47	1	A	NM_138737		65486389	65486389	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	140	17.65	30	SNP	0.004	C
HEPHL1	341208	genome.wustl.edu	37	11	93826726	93826726	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:93826726T>G	ENST00000315765.9	+	13	2362	c.2354T>G	c.(2353-2355)gTg>gGg	p.V785G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	785	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACAAGAAGGTGGTTTACAGG	0.438																																						dbGAP											0													180.0	174.0	176.0					11																	93826726		1885	4124	6009	-	-	-	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2354T>G	11.37:g.93826726T>G	ENSP00000313699:p.Val785Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V785G	ENST00000315765.9	37	c.2354	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534376	0.85812	.	.	ENSG00000181333	ENST00000315765	D	0.99121	-5.45	5.67	5.67	0.87782	Cupredoxin (2);	0.054385	0.64402	D	0.000001	D	0.99399	0.9788	M	0.92880	3.355	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.98621	1.0667	10	0.87932	D	0	.	15.915	0.79508	0.0:0.0:0.0:1.0	.	785	Q6MZM0	HPHL1_HUMAN	G	785	ENSP00000313699:V785G	ENSP00000313699:V785G	V	+	2	0	HEPHL1	93466374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.548000	0.60718	2.167000	0.68274	0.443000	0.29094	GTG	HEPHL1	-	superfamily_Cupredoxin	ENSG00000181333		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	286	0.00	0	T	XM_291947		93826726	93826726	+1	no_errors	ENST00000315765	ensembl	human	known	69_37n	missense	231	10.77	28	SNP	1.000	G
HERC4	26091	genome.wustl.edu	37	10	69714455	69714455	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:69714455A>C	ENST00000395198.3	-	20	2505	c.2258T>G	c.(2257-2259)gTg>gGg	p.V753G	HERC4_ENST00000373700.4_Missense_Mutation_p.V745G|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.V753G|HERC4_ENST00000277817.6_Missense_Mutation_p.V643G	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	753	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTCTTTGCGCACCCCTCCTGC	0.378																																						dbGAP											0													111.0	110.0	111.0					10																	69714455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2258T>G	10.37:g.69714455A>C	ENSP00000378624:p.Val753Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V753G	ENST00000395198.3	37	c.2258	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899406	0.91962	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.88	5.88	0.94601	HECT (3);	0.000000	0.85682	D	0.000000	D	0.92763	0.7699	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.996;0.998;0.996	D	0.95303	0.8405	10	0.87932	D	0	.	16.2874	0.82727	1.0:0.0:0.0:0.0	.	753;643;603;745;753	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	G	643;753;753;745	ENSP00000277817:V643G;ENSP00000416504:V753G;ENSP00000378624:V753G;ENSP00000362804:V745G	ENSP00000277817:V643G	V	-	2	0	HERC4	69384461	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	9.109000	0.94291	2.248000	0.74166	0.528000	0.53228	GTG	HERC4	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000148634		0.378	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	162	0.61	1	A	NM_015601		69714455	69714455	-1	no_errors	ENST00000395198	ensembl	human	known	69_37n	missense	101	24.63	33	SNP	1.000	C
HERC4	26091	genome.wustl.edu	37	10	69785428	69785428	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:69785428A>C	ENST00000395198.3	-	8	1030	c.783T>G	c.(781-783)ggT>ggG	p.G261G	HERC4_ENST00000373700.4_Silent_p.G261G|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Silent_p.G261G|HERC4_ENST00000277817.6_Silent_p.G151G	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	261					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TAAACACTCCACCTTCCTAAA	0.353																																						dbGAP											0													97.0	104.0	101.0					10																	69785428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.783T>G	10.37:g.69785428A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.W258G	ENST00000395198.3	37	c.772	CCDS41533.1	10																																																																																			HERC4	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000148634		0.353	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	234	0.00	0	A	NM_015601		69785428	69785428	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427635	ensembl	human	known	69_37n	missense	195	12.44	28	SNP	1.000	C
HERC4	26091	genome.wustl.edu	37	10	69832821	69832821	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:69832821A>C	ENST00000395198.3	-	3	292	c.45T>G	c.(43-45)ggT>ggG	p.G15G	HERC4_ENST00000492996.2_Silent_p.G15G|HERC4_ENST00000373700.4_Silent_p.G15G|HERC4_ENST00000395187.2_Silent_p.G15G|HERC4_ENST00000412272.2_Silent_p.G15G	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	15					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CATCAATTCCACCCAAACCTA	0.398																																						dbGAP											0													93.0	88.0	90.0					10																	69832821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.45T>G	10.37:g.69832821A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.W12G	ENST00000395198.3	37	c.34	CCDS41533.1	10																																																																																			HERC4	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000148634		0.398	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	130	0.00	0	A	NM_015601		69832821	69832821	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427635	ensembl	human	known	69_37n	missense	86	16.35	17	SNP	0.998	C
HERPUD2	64224	genome.wustl.edu	37	7	35673350	35673350	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:35673350T>G	ENST00000396081.1	-	8	1975	c.1171A>C	c.(1171-1173)Acc>Ccc	p.T391P	HERPUD2_ENST00000426180.1_5'Flank|HERPUD2_ENST00000311350.3_Missense_Mutation_p.T391P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	391					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GTAAAGAAGGTGGTGATGAAA	0.488																																						dbGAP											0													165.0	157.0	160.0					7																	35673350		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.1171A>C	7.37:g.35673350T>G	ENSP00000379390:p.Thr391Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.T391P	ENST00000396081.1	37	c.1171	CCDS5446.1	7	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376825	0.82682	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.31247	1.5;1.5	5.62	4.46	0.54185	.	0.046633	0.85682	D	0.000000	T	0.53110	0.1776	M	0.83953	2.67	0.80722	D	1	D	0.60160	0.987	P	0.59643	0.861	T	0.59032	-0.7530	10	0.72032	D	0.01	-7.5477	12.1727	0.54167	0.1281:0.0:0.0:0.8719	.	391	Q9BSE4	HERP2_HUMAN	P	391	ENSP00000379390:T391P;ENSP00000310729:T391P	ENSP00000310729:T391P	T	-	1	0	HERPUD2	35639875	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.188000	0.58351	0.956000	0.37904	-0.456000	0.05471	ACC	HERPUD2	-	NULL	ENSG00000122557		0.488	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	134	0.00	0	T	NM_022373		35673350	35673350	-1	no_errors	ENST00000311350	ensembl	human	known	69_37n	missense	140	12.96	21	SNP	1.000	G
HIP1	3092	genome.wustl.edu	37	7	75168744	75168744	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:75168744A>C	ENST00000336926.6	-	30	2986	c.2960T>G	c.(2959-2961)gTg>gGg	p.V987G	HIP1_ENST00000434438.2_Missense_Mutation_p.V936G	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	987	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TAGCTCTAGCACCCTAACCTG	0.413			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													182.0	183.0	183.0					7																	75168744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2960T>G	7.37:g.75168744A>C	ENSP00000336747:p.Val987Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.V987G	ENST00000336926.6	37	c.2960	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469995	0.84533	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.54279	0.58;0.58	5.31	5.31	0.75309	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.979;0.995	T	0.83251	-0.0053	10	0.87932	D	0	-27.9008	14.3794	0.66902	1.0:0.0:0.0:0.0	.	936;987	E7ES17;O00291	.;HIP1_HUMAN	G	987;936	ENSP00000336747:V987G;ENSP00000410300:V936G	ENSP00000336747:V987G	V	-	2	0	HIP1	75006680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	2.143000	0.66587	0.533000	0.62120	GTG	HIP1	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ	ENSG00000127946		0.413	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	195	0.51	1	A	NM_005338		75168744	75168744	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	missense	257	19.31	62	SNP	1.000	C
HIPK2	28996	genome.wustl.edu	37	7	139416320	139416320	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:139416320T>G	ENST00000406875.3	-	2	608	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	HIPK2_ENST00000428878.2_Missense_Mutation_p.T172P|HIPK2_ENST00000342645.6_Missense_Mutation_p.T172P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	172	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTTTTGGAGGTGGCAGTAGAC	0.557																																						dbGAP											0													135.0	118.0	123.0					7																	139416320		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.514A>C	7.37:g.139416320T>G	ENSP00000385571:p.Thr172Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T172P	ENST00000406875.3	37	c.514		7	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179278	0.57800	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.21932	1.98;1.98;1.98	5.28	4.14	0.48551	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.46356	D	0.999009	D;P	0.57257	0.979;0.807	P;B	0.47299	0.543;0.346	T	0.01409	-1.1362	8	0.40728	T	0.16	.	10.4803	0.44689	0.0:0.0759:0.0:0.9241	.	172;172	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	P	172	ENSP00000385571:T172P;ENSP00000413724:T172P;ENSP00000343108:T172P	ENSP00000343108:T172P	T	-	1	0	HIPK2	139062806	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.157000	0.64911	1.987000	0.57996	0.460000	0.39030	ACC	HIPK2	-	NULL	ENSG00000064393		0.557	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	184	0.54	1	T	NM_022740		139416320	139416320	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	190	14.35	32	SNP	1.000	G
HIPK3	10114	genome.wustl.edu	37	11	33374870	33374870	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:33374870A>C	ENST00000303296.4	+	17	3709	c.3404A>C	c.(3403-3405)cAc>cCc	p.H1135P	HIPK3_ENST00000456517.1_Missense_Mutation_p.H1114P|HIPK3_ENST00000379016.3_Missense_Mutation_p.H1114P|HIPK3_ENST00000525975.1_Missense_Mutation_p.H1114P|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1135					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAGTGGCCCACCTGTTAGCC	0.527																																						dbGAP											0													223.0	183.0	197.0					11																	33374870		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3404A>C	11.37:g.33374870A>C	ENSP00000304226:p.His1135Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H1135P	ENST00000303296.4	37	c.3404	CCDS7884.1	11	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836688	0.50951	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.63255	-0.03;-0.0;-0.03;-0.03	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000005	T	0.66761	0.2822	M	0.69823	2.125	0.80722	D	1	B;B	0.31241	0.315;0.111	B;B	0.35470	0.203;0.082	T	0.68322	-0.5439	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1114;1135	Q9H422-2;Q9H422	.;HIPK3_HUMAN	P	1114;1135;1114;1114	ENSP00000431710:H1114P;ENSP00000304226:H1135P;ENSP00000368301:H1114P;ENSP00000398241:H1114P	ENSP00000304226:H1135P	H	+	2	0	HIPK3	33331446	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	8.730000	0.91510	2.367000	0.80283	0.528000	0.53228	CAC	HIPK3	-	NULL	ENSG00000110422		0.527	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	290	0.34	1	A	NM_005734		33374870	33374870	+1	no_errors	ENST00000303296	ensembl	human	known	69_37n	missense	343	14.81	60	SNP	1.000	C
HIPK3	10114	genome.wustl.edu	37	11	33375090	33375090	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:33375090A>C	ENST00000303296.4	+	17	3929	c.3624A>C	c.(3622-3624)aaA>aaC	p.K1208N	HIPK3_ENST00000456517.1_Missense_Mutation_p.K1187N|HIPK3_ENST00000379016.3_Missense_Mutation_p.K1187N|HIPK3_ENST00000525975.1_Missense_Mutation_p.K1187N|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1208					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTCCAACAAAACTCAGCCAGT	0.363																																						dbGAP											0													66.0	60.0	62.0					11																	33375090		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3624A>C	11.37:g.33375090A>C	ENSP00000304226:p.Lys1208Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K1208N	ENST00000303296.4	37	c.3624	CCDS7884.1	11	.	.	.	.	.	.	.	.	.	.	A	10.48	1.363188	0.24684	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.68479	-0.33;-0.3;-0.33;-0.33	6.03	2.53	0.30540	.	0.000000	0.64402	D	0.000007	T	0.74045	0.3665	L	0.49350	1.555	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71477	-0.4581	10	0.59425	D	0.04	.	9.5625	0.39378	0.8046:0.0:0.1954:0.0	.	1187;1208	Q9H422-2;Q9H422	.;HIPK3_HUMAN	N	1187;1208;1187;1187	ENSP00000431710:K1187N;ENSP00000304226:K1208N;ENSP00000368301:K1187N;ENSP00000398241:K1187N	ENSP00000304226:K1208N	K	+	3	2	HIPK3	33331666	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.348000	0.52209	0.192000	0.20272	-0.379000	0.06801	AAA	HIPK3	-	NULL	ENSG00000110422		0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	220	0.45	1	A	NM_005734		33375090	33375090	+1	no_errors	ENST00000303296	ensembl	human	known	69_37n	missense	249	11.70	33	SNP	1.000	C
HIST1H3F	8968	genome.wustl.edu	37	6	26250529	26250529	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:26250529A>C	ENST00000446824.2	-	1	306	c.305T>G	c.(304-306)gTg>gGg	p.V102G	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	102					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						AAAGAGCCCCACCAGGTAAGC	0.617											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													104.0	102.0	102.0					6																	26250529		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.305T>G	6.37:g.26250529A>C	ENSP00000444823:p.Val102Gly	Somatic	785	WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.V102G	ENST00000446824.2	37	c.305	CCDS4600.1	6	.	.	.	.	.	.	.	.	.	.	.	13.73	2.325177	0.41197	.	.	ENSG00000256316	ENST00000446824	T	0.70399	-0.48	4.82	4.82	0.62117	.	.	.	.	.	T	0.76026	0.3930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80372	-0.1410	6	0.87932	D	0	.	14.2481	0.66001	1.0:0.0:0.0:0.0	.	.	.	.	G	102	ENSP00000444823:V102G	ENSP00000444823:V102G	V	-	2	0	HIST1H3F	26358508	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.193000	0.77780	2.103000	0.63969	0.459000	0.35465	GTG	HIST1H3F	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256316		0.617	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	HGNC	protein_coding	OTTHUMT00000040098.1	65	0.00	0	A	NM_021018		26250529	26250529	-1	no_errors	ENST00000446824	ensembl	human	known	69_37n	missense	59	15.49	11	SNP	1.000	C
HK3	3101	genome.wustl.edu	37	5	176323136	176323136	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:176323136A>C	ENST00000292432.5	-	2	116	c.25T>G	c.(25-27)Ttg>Gtg	p.L9V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	9	Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCCGCAACCCTGAAGAC	0.557																																						dbGAP											0													48.0	50.0	49.0					5																	176323136		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.25T>G	5.37:g.176323136A>C	ENSP00000292432:p.Leu9Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1E7	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L9V	ENST00000292432.5	37	c.25	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	A	13.11	2.138257	0.37728	.	.	ENSG00000160883	ENST00000292432	D	0.97642	-4.47	3.25	-5.28	0.02755	.	1.452170	0.05028	N	0.474177	D	0.93923	0.8055	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.54544	0.755	D	0.87919	0.2702	10	0.56958	D	0.05	0.0472	2.5667	0.04784	0.2276:0.1606:0.4539:0.1579	.	9	P52790	HXK3_HUMAN	V	9	ENSP00000292432:L9V	ENSP00000292432:L9V	L	-	1	2	HK3	176255742	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.309000	0.08145	-1.260000	0.02465	-0.488000	0.04728	TTG	HK3	-	NULL	ENSG00000160883		0.557	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	114	0.86	1	A			176323136	176323136	-1	no_errors	ENST00000292432	ensembl	human	known	69_37n	missense	140	11.39	18	SNP	0.000	C
HLA-F	3134	genome.wustl.edu	37	6	29693241	29693241	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29693241A>C	ENST00000376861.1	+	6	1288	c.904A>C	c.(904-906)Acc>Ccc	p.T302P	HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000440587.2_Missense_Mutation_p.T184P|HLA-F_ENST00000434407.2_Missense_Mutation_p.T210P|HLA-F_ENST00000334668.4_Missense_Mutation_p.T302P|HLA-F_ENST00000259951.7_Missense_Mutation_p.T302P			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	302	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCCCCAGCCCACCATCCCCAT	0.617																																						dbGAP											0													156.0	154.0	155.0					6																	29693241		1511	2709	4220	-	-	-	SO:0001583	missense	0			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.904A>C	6.37:g.29693241A>C	ENSP00000366057:p.Thr302Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.T302P	ENST00000376861.1	37	c.904	CCDS43438.1	6	.	.	.	.	.	.	.	.	.	.	.	7.999	0.754955	0.15846	.	.	ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587;ENST00000434407	T;T;T;T;T	0.00792	5.7;5.7;5.76;5.72;5.69	1.92	-3.85	0.04243	Immunoglobulin-like fold (1);	1.655070	0.04139	U	0.319245	T	0.01421	0.0046	M	0.88105	2.93	0.09310	N	1	D;B;D;B	0.76494	0.999;0.0;0.991;0.0	D;B;D;B	0.72075	0.976;0.0;0.934;0.0	T	0.20306	-1.0279	10	0.87932	D	0	.	2.808	0.05433	0.3321:0.2247:0.0:0.4432	.	302;302;302;210	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	P	302;279;302;302;216;184;210	ENSP00000366057:T302P;ENSP00000334263:T302P;ENSP00000259951:T302P;ENSP00000404130:T184P;ENSP00000397376:T210P	ENSP00000259951:T302P	T	+	1	0	HLA-F	29801220	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.323000	0.07997	-1.562000	0.01682	-0.842000	0.03052	ACC	HLA-F	-	NULL	ENSG00000204642		0.617	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	261	0.76	2	A	NM_018950		29693241	29693241	+1	no_errors	ENST00000259951	ensembl	human	known	69_37n	missense	160	13.90	26	SNP	0.001	C
HLA-F	3134	genome.wustl.edu	37	6	29694783	29694783	+	IGR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29694783T>G	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Splice_Site|HLA-F_ENST00000259951.7_Missense_Mutation_p.V387G			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CGCCGGAAGGTGGGTGACATG	0.512																																						dbGAP											0													172.0	200.0	190.0					6																	29694783		1415	2655	4070	-	-	-	SO:0001628	intergenic_variant	0			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694783T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Splice_Site	SNP	-	e4+2	ENST00000376861.1	37	c.771+2	CCDS43438.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	8.887|8.887|8.887	0.952973|0.952973|0.952973	0.18431|0.18431|0.18431	.|.|.	.|.|.	ENSG00000204642|ENSG00000204642|ENSG00000204642	ENST00000399258;ENST00000440587|ENST00000449921;ENST00000259951|ENST00000444621	.|T|.	.|0.00892|.	.|5.57|.	0.62|0.62|0.62	0.62|0.62|0.62	0.17637|0.17637|0.17637	.|.|.	.|2.541070|.	.|0.02358|.	.|U|.	.|0.076634|.	.|T|T	.|0.20414|0.20414	.|0.0491|0.0491	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.51449|.	.|0.945|.	.|P|.	.|0.59056|.	.|0.851|.	.|T|T	.|0.05146|0.05146	.|-1.0903|-1.0903	.|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	5.4554|5.4554|5.4554	0.16588|0.16588|0.16588	0.0:1.0E-4:0.0:0.9999|0.0:1.0E-4:0.0:0.9999|0.0:1.0E-4:0.0:0.9999	.|.|.	.|387|.	.|P30511-3|.	.|.|.	.|G|G	-1|364;387|69	.|ENSP00000259951:V387G|.	.|ENSP00000259951:V387G|.	.|V|W	+|+|+	.|2|1	.|0|0	HLA-F|HLA-F|HLA-F	29802762|29802762|29802762	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.031000|0.031000|0.031000	0.17742|0.17742|0.17742	0.085000|0.085000|0.085000	0.17905|0.17905|0.17905	5.413000|5.413000|5.413000	0.66399|0.66399|0.66399	0.488000|0.488000|0.488000	0.27723|0.27723|0.27723	0.358000|0.358000|0.358000	0.22013|0.22013|0.22013	.|GTG|TGG	HLA-F	-	-	ENSG00000204642		0.512	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	372	0.27	1	T	NM_018950		29694783	29694783	+1	no_errors	ENST00000440587	ensembl	human	known	69_37n	splice_site	226	14.39	38	SNP	0.999	G
HLA-DRB5	3127	genome.wustl.edu	37	6	32487287	32487287	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32487287A>C	ENST00000374975.3	-	3	574	c.512T>G	c.(511-513)gTg>gGg	p.V171G		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGTGGACACCACCCCAGCCTT	0.547																																						dbGAP											0													63.0	73.0	70.0					6																	32487287		2143	4226	6369	-	-	-	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.512T>G	6.37:g.32487287A>C	ENSP00000364114:p.Val171Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.V171G	ENST00000374975.3	37	c.512	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	16.52	3.147647	0.57151	.	.	ENSG00000198502	ENST00000374975	T	0.03607	3.87	4.6	4.6	0.57074	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.124032	0.53938	D	0.000054	T	0.20659	0.0497	H	0.97659	4.05	0.58432	D	0.999999	D;D	0.61080	0.989;0.962	D;P	0.75020	0.985;0.81	T	0.23547	-1.0185	10	0.87932	D	0	.	12.3195	0.54977	1.0:0.0:0.0:0.0	.	98;171	Q29973;Q30154	.;DRB5_HUMAN	G	171	ENSP00000364114:V171G	ENSP00000364114:V171G	V	-	2	0	HLA-DRB5	32595265	0.955000	0.32602	0.905000	0.35620	0.481000	0.33189	6.470000	0.73558	2.087000	0.62958	0.454000	0.30748	GTG	HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000198502		0.547	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	268	0.00	0	A	NM_002125		32487287	32487287	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	missense	213	14.46	36	SNP	0.949	C
HLA-DMB	3109	genome.wustl.edu	37	6	32906595	32906595	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32906595A>C	ENST00000418107.2	-	2	465	c.203T>G	c.(202-204)gTg>gGg	p.V68G	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.V100G|AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.V68G	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	68	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCTATTCAGCACCCCAAATTC	0.517																																						dbGAP											0													119.0	120.0	120.0					6																	32906595		1510	2709	4219	-	-	-	SO:0001583	missense	0				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.203T>G	6.37:g.32906595A>C	ENSP00000398890:p.Val68Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.V68G	ENST00000418107.2	37	c.203	CCDS4760.1	6	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248337	0.59103	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.00025	8.96;8.96;8.96	5.07	-1.43	0.08884	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	2.840050	0.01460	N	0.015824	T	0.00073	0.0002	L	0.53249	1.67	0.09310	N	0.999999	P;P;P	0.44946	0.542;0.794;0.846	B;P;P	0.47528	0.344;0.477;0.549	T	0.35001	-0.9806	9	.	.	.	.	8.7137	0.34399	0.555:0.0:0.445:0.0	.	68;68;77	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	G	68;68;68;100	ENSP00000398890:V68G;ENSP00000391010:V68G;ENSP00000412457:V100G	.	V	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014573	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	-0.350000	0.07721	-0.396000	0.07703	0.519000	0.50382	GTG	HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000242574		0.517	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	131	0.00	0	A	NM_002118		32906595	32906595	-1	no_errors	ENST00000418107	ensembl	human	known	69_37n	missense	65	20.73	17	SNP	0.000	C
HMGCL	3155	genome.wustl.edu	37	1	24140474	24140474	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:24140474T>G	ENST00000374490.3	-	5	541				HMGCL_ENST00000509389.1_Intron|HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000374483.4_Intron	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ggctagctGGTAAACTGACCC	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.497+205A>C	1.37:g.24140474T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	RNA	SNP	-	NULL	ENST00000374490.3	37	NULL	CCDS243.1	1																																																																																			HMGCL	-	-	ENSG00000117305		0.493	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCL	HGNC	protein_coding	OTTHUMT00000008253.2	28	0.00	0	T	NM_000191		24140474	24140474	-1	no_errors	ENST00000479458	ensembl	human	known	69_37n	rna	27	30.77	12	SNP	0.051	G
HMCN1	83872	genome.wustl.edu	37	1	186014911	186014911	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:186014911A>C	ENST00000271588.4	+	41	6625	c.6396A>C	c.(6394-6396)ccA>ccC	p.P2132P	HMCN1_ENST00000367492.2_Silent_p.P2132P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2132	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTATTCCCCCACCTACTCTTA	0.418																																						dbGAP											0													146.0	132.0	137.0					1																	186014911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6396A>C	1.37:g.186014911A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P2132	ENST00000271588.4	37	c.6396	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	92	0.00	0	A	NM_031935		186014911	186014911	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	121	10.37	14	SNP	0.562	C
HNRNPC	3183	genome.wustl.edu	37	14	21679531	21679531	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:21679531A>C	ENST00000320084.7	-	7	1077				HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555309.1_Intron|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000420743.2_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000336053.6_Missense_Mutation_p.W278G|HNRNPC_ENST00000553753.1_Missense_Mutation_p.W278G|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000554455.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000557201.1_Intron	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)						3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GCCCCCCTCCACCACCTTTTT	0.502																																					NSCLC(108;607 2244 12726 38757)	dbGAP											0													106.0	119.0	115.0					14																	21679531		2143	4250	6393	-	-	-	SO:0001627	intron_variant	0				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.837+33T>G	14.37:g.21679531A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.W278G	ENST00000320084.7	37	c.832	CCDS41915.1	14	.	.	.	.	.	.	.	.	.	.	A	10.06	1.248129	0.22880	.	.	ENSG00000092199	ENST00000336053;ENST00000553753;ENST00000216296	T;T	0.10573	2.86;2.86	5.79	-0.763	0.11030	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34576	-0.9823	8	0.54805	T	0.06	.	0.6132	0.00765	0.3194:0.1355:0.1533:0.3919	.	186;278	B4DQQ2;B4DY08	.;.	G	278;278;186	ENSP00000338095:W278G;ENSP00000450548:W278G	ENSP00000216296:W186G	W	-	1	0	HNRNPC	20749371	0.881000	0.30235	0.978000	0.43139	0.720000	0.41350	0.109000	0.15417	-0.130000	0.11599	-0.256000	0.11100	TGG	HNRNPC	-	pirsf_hnRNP_C_Raly	ENSG00000092199		0.502	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	318	0.62	2	A			21679531	21679531	-1	no_errors	ENST00000336053	ensembl	human	putative	69_37n	missense	200	21.26	54	SNP	0.981	C
HNRNPC	3183	genome.wustl.edu	37	14	21679534	21679534	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:21679534A>C	ENST00000320084.7	-	7	1077				HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555309.1_Intron|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000420743.2_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000336053.6_Missense_Mutation_p.W277G|HNRNPC_ENST00000553753.1_Missense_Mutation_p.W277G|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000554455.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000557201.1_Intron	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)						3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CCCCTCCACCACCTTTTTCTT	0.507																																					NSCLC(108;607 2244 12726 38757)	dbGAP											0													106.0	119.0	115.0					14																	21679534		2146	4248	6394	-	-	-	SO:0001627	intron_variant	0				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.837+30T>G	14.37:g.21679534A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.W277G	ENST00000320084.7	37	c.829	CCDS41915.1	14	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317779	0.23994	.	.	ENSG00000092199	ENST00000336053;ENST00000553753;ENST00000216296	T;T	0.09163	3.01;3.01	6.06	3.62	0.41486	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29088	-1.0023	8	0.30078	T	0.28	.	6.3227	0.21227	0.5789:0.1442:0.0:0.2769	.	185;277	B4DQQ2;B4DY08	.;.	G	277;277;185	ENSP00000338095:W277G;ENSP00000450548:W277G	ENSP00000216296:W185G	W	-	1	0	HNRNPC	20749374	0.995000	0.38212	0.999000	0.59377	0.748000	0.42578	0.728000	0.26013	0.477000	0.27464	0.533000	0.62120	TGG	HNRNPC	-	pirsf_hnRNP_C_Raly	ENSG00000092199		0.507	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	315	0.93	3	A			21679534	21679534	-1	no_errors	ENST00000336053	ensembl	human	putative	69_37n	missense	179	29.69	76	SNP	0.979	C
HNRNPH2	3188	genome.wustl.edu	37	X	100668170	100668170	+	Silent	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100668170A>G	ENST00000316594.5	+	2	1272	c.1194A>G	c.(1192-1194)ggA>ggG	p.G398G		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	398	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G398G(1)		breast(3)|large_intestine(2)|lung(6)|skin(1)	12						AAATGATGGGAGGGATGGGCT	0.502																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											195.0	184.0	188.0					X																	100668170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1194A>G	X.37:g.100668170A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L400|Q9HHA7	Silent	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.G398	ENST00000316594.5	37	c.1194	CCDS14485.1	X																																																																																			HNRNPH2	-	NULL	ENSG00000126945		0.502	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	HGNC	protein_coding	OTTHUMT00000057556.1	381	0.78	3	A	NM_019597		100668170	100668170	+1	no_errors	ENST00000316594	ensembl	human	known	69_37n	silent	423	14.63	73	SNP	0.999	G
HNRNPUL1	11100	genome.wustl.edu	37	19	41810140	41810140	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:41810140A>C	ENST00000392006.3	+	13	2409	c.2236A>C	c.(2236-2238)Acc>Ccc	p.T746P	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.T746P|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.T646P|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.T646P|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.T657P|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.T646P|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.T632P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	746	Necessary for interaction with TP53.|Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCACCCCCACCGTCAGCAG	0.572																																						dbGAP											0													63.0	69.0	67.0					19																	41810140		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2236A>C	19.37:g.41810140A>C	ENSP00000375863:p.Thr746Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.T746P	ENST00000392006.3	37	c.2236	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	A	11.19	1.567075	0.28003	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.90444	0.94;-2.67;1.52;-2.67	5.05	2.83	0.33086	.	0.434461	0.23914	N	0.043308	T	0.81128	0.4758	N	0.03608	-0.345	0.20196	N	0.999925	B;B;B;B;B;B;B	0.33022	0.0;0.0;0.002;0.394;0.002;0.001;0.001	B;B;B;B;B;B;B	0.43018	0.0;0.001;0.003;0.405;0.003;0.001;0.002	T	0.72693	-0.4216	10	0.32370	T	0.25	-8.493	8.9562	0.35818	0.5976:0.4024:0.0:0.0	.	657;646;746;270;632;746;646	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	P	646;746;632;657	ENSP00000340857:T646P;ENSP00000375863:T746P;ENSP00000367460:T632P;ENSP00000263367:T657P	ENSP00000263367:T657P	T	+	1	0	HNRNPUL1	46501980	0.574000	0.26684	0.930000	0.37139	0.986000	0.74619	0.765000	0.26546	0.948000	0.37687	0.454000	0.30748	ACC	HNRNPUL1	-	NULL	ENSG00000105323		0.572	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	139	0.00	0	A	NM_144732, NM_007040		41810140	41810140	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	missense	116	16.55	23	SNP	0.424	C
HOXB6	3216	genome.wustl.edu	37	17	46673849	46673849	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:46673849A>C	ENST00000484302.2	-	3	1223	c.601T>G	c.(601-603)Tgg>Ggg	p.W201G	HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.W201G|HOXB-AS3_ENST00000480872.1_RNA			P17509	HXB6_HUMAN	homeobox B6	201					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCCTTTTTCCACTTCATGCGT	0.597																																						dbGAP											0													206.0	177.0	187.0					17																	46673849		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.601T>G	17.37:g.46673849A>C	ENSP00000420009:p.Trp201Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.W201G	ENST00000484302.2	37	c.601	CCDS11531.1	17	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270511	0.80469	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.96365	-3.99;-3.99	4.66	4.66	0.58398	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98847	1.0757	10	0.87932	D	0	.	13.92	0.63926	1.0:0.0:0.0:0.0	.	201	P17509	HXB6_HUMAN	G	201	ENSP00000420009:W201G;ENSP00000225648:W201G	ENSP00000225648:W201G	W	-	1	0	HOXB6	44028848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.041000	0.93788	1.956000	0.56807	0.460000	0.39030	TGG	HOXB6	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	ENSG00000108511		0.597	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB6	HGNC	protein_coding	OTTHUMT00000358146.2	287	0.35	1	A			46673849	46673849	-1	no_errors	ENST00000225648	ensembl	human	known	69_37n	missense	277	10.58	33	SNP	1.000	C
HPS1	3257	genome.wustl.edu	37	10	100202991	100202991	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:100202991A>C	ENST00000325103.6	-	3	240	c.7T>G	c.(7-9)Tgc>Ggc	p.C3G	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.C3G|HPS1_ENST00000338546.5_Missense_Mutation_p.C3G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	3					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACCAAGACGCACTTCATCTGC	0.542									Hermansky-Pudlak syndrome																													dbGAP											0													109.0	97.0	101.0					10																	100202991		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.7T>G	10.37:g.100202991A>C	ENSP00000326649:p.Cys3Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	NULL	p.C3G	ENST00000325103.6	37	c.7	CCDS7475.1	10	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238422	0.39598	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546	T;T;T	0.29397	1.57;1.57;1.57	4.62	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.64404	1.975	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.32981	-0.9886	10	0.35671	T	0.21	.	9.6969	0.40163	0.8442:0.0:0.0:0.1557	.	3;3;3;3	Q92902;Q92902-3;Q92902-2;D3DR62	HPS1_HUMAN;.;.;.	G	3	ENSP00000326649:C3G;ENSP00000355310:C3G;ENSP00000343638:C3G	ENSP00000326649:C3G	C	-	1	0	HPS1	100192981	1.000000	0.71417	0.960000	0.40013	0.474000	0.32979	7.566000	0.82347	0.779000	0.33543	-0.333000	0.08304	TGC	HPS1	-	NULL	ENSG00000107521		0.542	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	105	0.00	0	A	NM_000195, NM_182637, NM_182638, NM_182639		100202991	100202991	-1	no_errors	ENST00000325103	ensembl	human	known	69_37n	missense	85	13.27	13	SNP	1.000	C
HPSE2	60495	genome.wustl.edu	37	10	100401668	100401668	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:100401668A>C	ENST00000370552.3	-	7	1093	c.1034T>G	c.(1033-1035)gTg>gGg	p.V345G	HPSE2_ENST00000370546.1_Missense_Mutation_p.V345G|HPSE2_ENST00000370549.1_Missense_Mutation_p.V287G|HPSE2_ENST00000404542.1_Missense_Mutation_p.V233G	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	345					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAAGTCCATCACCTTGACCAC	0.393																																						dbGAP											0													175.0	184.0	181.0					10																	100401668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1034T>G	10.37:g.100401668A>C	ENSP00000359583:p.Val345Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.V345G	ENST00000370552.3	37	c.1034	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147276	0.57151	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.78	3.46	0.39613	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.55481	1.735	0.80722	D	1	P;B;B;B	0.40180	0.705;0.328;0.29;0.338	B;B;B;B	0.39617	0.275;0.116;0.202;0.305	T	0.03148	-1.1067	10	0.27785	T	0.31	-1.3079	10.1695	0.42902	0.8655:0.0:0.1345:0.0	.	233;345;287;345	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	G	345;287;345;233	ENSP00000359583:V345G;ENSP00000359580:V287G;ENSP00000359577:V345G;ENSP00000384384:V233G	ENSP00000359577:V345G	V	-	2	0	HPSE2	100391658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.820000	0.48057	0.553000	0.29044	-0.250000	0.11733	GTG	HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.393	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	382	0.26	1	A	NM_021828		100401668	100401668	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	missense	267	20.06	67	SNP	1.000	C
HPSE2	60495	genome.wustl.edu	37	10	100401677	100401677	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:100401677A>C	ENST00000370552.3	-	7	1084	c.1025T>G	c.(1024-1026)gTg>gGg	p.V342G	HPSE2_ENST00000370546.1_Missense_Mutation_p.V342G|HPSE2_ENST00000370549.1_Missense_Mutation_p.V284G|HPSE2_ENST00000404542.1_Missense_Mutation_p.V230G	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	342					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CACCTTGACCACCCGGCCATC	0.393																																						dbGAP											0													157.0	166.0	163.0					10																	100401677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1025T>G	10.37:g.100401677A>C	ENSP00000359583:p.Val342Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.V342G	ENST00000370552.3	37	c.1025	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716630	0.68844	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.148650	0.44902	N	0.000416	T	0.27731	0.0682	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.986;0.986;0.989	D;P;P;P	0.78314	0.991;0.744;0.744;0.834	T	0.01982	-1.1235	10	0.20046	T	0.44	-7.6774	16.2269	0.82300	1.0:0.0:0.0:0.0	.	230;342;284;342	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	G	342;284;342;230	ENSP00000359583:V342G;ENSP00000359580:V284G;ENSP00000359577:V342G;ENSP00000384384:V230G	ENSP00000359577:V342G	V	-	2	0	HPSE2	100391667	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.274000	0.78538	2.296000	0.77279	0.482000	0.46254	GTG	HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.393	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	374	0.00	0	A	NM_021828		100401677	100401677	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	missense	278	15.76	52	SNP	1.000	C
HPS6	79803	genome.wustl.edu	37	10	103827162	103827162	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:103827162T>G	ENST00000299238.5	+	1	2016	c.1931T>G	c.(1930-1932)gTg>gGg	p.V644G		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	644					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGGCAGCTGGTGCAAAAGGAA	0.617									Hermansky-Pudlak syndrome																													dbGAP											0													71.0	74.0	73.0					10																	103827162		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1931T>G	10.37:g.103827162T>G	ENSP00000299238:p.Val644Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.V644G	ENST00000299238.5	37	c.1931	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674776	0.67928	.	.	ENSG00000166189	ENST00000299238	D	0.81996	-1.56	5.12	5.12	0.69794	.	0.275088	0.35838	N	0.002951	T	0.80534	0.4641	L	0.51422	1.61	0.54753	D	0.999986	P	0.46220	0.874	B	0.41894	0.369	D	0.83571	0.0112	10	0.72032	D	0.01	-3.6163	15.0739	0.72063	0.0:0.0:0.0:1.0	.	644	Q86YV9	HPS6_HUMAN	G	644	ENSP00000299238:V644G	ENSP00000299238:V644G	V	+	2	0	HPS6	103817152	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	5.977000	0.70492	2.156000	0.67533	0.459000	0.35465	GTG	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.617	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	49	0.00	0	T	NM_024747		103827162	103827162	+1	no_errors	ENST00000299238	ensembl	human	known	69_37n	missense	43	20.00	11	SNP	0.997	G
HPX	3263	genome.wustl.edu	37	11	6453030	6453030	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6453030T>G	ENST00000265983.3	-	9	1070	c.970A>C	c.(970-972)Acc>Ccc	p.T324P		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	324					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TATACCTGGGTGCCCTGGAGG	0.507																																						dbGAP											0													147.0	155.0	152.0					11																	6453030		2201	4296	6497	-	-	-	SO:0001583	missense	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.970A>C	11.37:g.6453030T>G	ENSP00000265983:p.Thr324Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R957	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	p.T324P	ENST00000265983.3	37	c.970	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052693	0.55218	.	.	ENSG00000110169	ENST00000265983	T	0.21932	1.98	5.72	3.24	0.37175	Hemopexin/matrixin (2);	0.449943	0.27379	N	0.019621	T	0.29061	0.0722	L	0.34521	1.04	0.33308	D	0.565696	D	0.71674	0.998	D	0.64687	0.928	T	0.37865	-0.9687	10	0.66056	D	0.02	-14.9776	8.4369	0.32793	0.4377:0.0:0.0:0.5622	.	324	P02790	HEMO_HUMAN	P	324	ENSP00000265983:T324P	ENSP00000265983:T324P	T	-	1	0	HPX	6409606	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	0.728000	0.26013	0.978000	0.38470	0.459000	0.35465	ACC	HPX	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.507	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	338	0.00	0	T	NM_000613		6453030	6453030	-1	no_errors	ENST00000265983	ensembl	human	known	69_37n	missense	453	11.50	59	SNP	0.983	G
HRH1	3269	genome.wustl.edu	37	3	11301330	11301330	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:11301330A>C	ENST00000397056.1	+	3	798	c.607A>C	c.(607-609)Acc>Ccc	p.T203P	HRH1_ENST00000438284.2_Missense_Mutation_p.T203P|HRH1_ENST00000431010.2_Missense_Mutation_p.T203P	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	203					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTACCTGCCCACCTTGCTCAT	0.537																																						dbGAP											0													226.0	196.0	206.0					3																	11301330		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.607A>C	3.37:g.11301330A>C	ENSP00000380247:p.Thr203Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T203P	ENST00000397056.1	37	c.607	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552884	0.65425	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.37752	1.18;1.18;1.18	5.98	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.057726	0.64402	D	0.000001	T	0.56891	0.2016	M	0.86268	2.805	0.49582	D	0.999803	D	0.71674	0.998	D	0.63703	0.917	T	0.59674	-0.7410	10	0.59425	D	0.04	-30.9894	6.5262	0.22303	0.6213:0.1184:0.0:0.2603	.	203	P35367	HRH1_HUMAN	P	203	ENSP00000406705:T203P;ENSP00000397028:T203P;ENSP00000380247:T203P	ENSP00000380247:T203P	T	+	1	0	HRH1	11276330	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.503000	0.66962	1.035000	0.39972	0.533000	0.62120	ACC	HRH1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196639		0.537	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	167	0.00	0	A			11301330	11301330	+1	no_errors	ENST00000397056	ensembl	human	known	69_37n	missense	127	17.83	28	SNP	1.000	C
HRNR	388697	genome.wustl.edu	37	1	152187862	152187862	+	Silent	SNP	A	A	G	rs374237661		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:152187862A>G	ENST00000368801.2	-	3	6318	c.6243T>C	c.(6241-6243)taT>taC	p.Y2081Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2081					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTCGGCCATAGCTGGGAG	0.622																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6243T>C	1.37:g.152187862A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Y2081	ENST00000368801.2	37	c.6243	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.622	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	86	0.00	0	A	XM_373868		152187862	152187862	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	76	17.02	16	SNP	0.000	G
HS3ST5	222537	genome.wustl.edu	37	6	114379169	114379169	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:114379169A>C	ENST00000312719.5	-	5	1481	c.293T>G	c.(292-294)gTg>gGg	p.V98G	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.V98G|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	98					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTTTCCTCACCCCAATGAT	0.532																																						dbGAP											0													74.0	72.0	73.0					6																	114379169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.293T>G	6.37:g.114379169A>C	ENSP00000427888:p.Val98Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.V98G	ENST00000312719.5	37	c.293	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	A	17.05	3.289569	0.59976	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.83335	-1.71;-1.71	5.62	5.62	0.85841	Sulfotransferase domain (1);	0.061993	0.64402	D	0.000004	D	0.91379	0.7280	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93022	0.6441	10	0.87932	D	0	.	16.1189	0.81329	1.0:0.0:0.0:0.0	.	98	Q8IZT8	HS3S5_HUMAN	G	98	ENSP00000427888:V98G;ENSP00000440332:V98G	ENSP00000427888:V98G	V	-	2	0	HS3ST5	114485862	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	GTG	HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.532	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	145	0.00	0	A	NM_153612		114379169	114379169	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	missense	98	17.50	21	SNP	1.000	C
HSD17B2	3294	genome.wustl.edu	37	16	82101888	82101888	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:82101888A>C	ENST00000199936.4	+	2	572	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	127					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						ATTGCGAAGAACCTGCTCTCC	0.522																																						dbGAP											0													94.0	76.0	82.0					16																	82101888		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.379A>C	16.37:g.82101888A>C	ENSP00000199936:p.Thr127Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.T127P	ENST00000199936.4	37	c.379	CCDS10936.1	16	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358680	0.24598	.	.	ENSG00000086696	ENST00000199936	D	0.87729	-2.29	5.33	1.54	0.23209	NAD(P)-binding domain (1);	0.902957	0.09719	N	0.764662	D	0.82834	0.5123	L	0.33339	1.005	0.09310	N	1	P	0.45531	0.86	P	0.51550	0.673	T	0.69320	-0.5176	10	0.33141	T	0.24	.	2.0535	0.03576	0.4237:0.257:0.071:0.2483	.	127	P37059	DHB2_HUMAN	P	127	ENSP00000199936:T127P	ENSP00000199936:T127P	T	+	1	0	HSD17B2	80659389	0.008000	0.16893	0.011000	0.14972	0.023000	0.10783	0.676000	0.25247	-0.029000	0.13827	0.529000	0.55759	ACC	HSD17B2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000086696		0.522	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B2	HGNC	protein_coding	OTTHUMT00000269057.2	133	0.00	0	A	NM_002153		82101888	82101888	+1	no_errors	ENST00000199936	ensembl	human	known	69_37n	missense	118	13.77	19	SNP	0.000	C
HSPA1L	3305	genome.wustl.edu	37	6	31779258	31779258	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31779258A>C	ENST00000375654.4	-	2	681	c.492T>G	c.(490-492)ggT>ggG	p.G164G	HSPA1L_ENST00000417199.3_Silent_p.G164G	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	164					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGCAATCACACCTGCATCCT	0.493																																						dbGAP											0													116.0	100.0	105.0					6																	31779258		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.492T>G	6.37:g.31779258A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G164	ENST00000375654.4	37	c.492	CCDS34413.1	6																																																																																			HSPA1L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	ENSG00000204390		0.493	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	87	0.00	0	A			31779258	31779258	-1	no_errors	ENST00000375654	ensembl	human	known	69_37n	silent	68	16.87	14	SNP	0.934	C
HTR1F	3355	genome.wustl.edu	37	3	88040063	88040063	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:88040063A>C	ENST00000319595.4	+	1	218	c.164A>C	c.(163-165)cAc>cCc	p.H55P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	55					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CGGAAGCTGCACCATCCAGCC	0.468																																						dbGAP											0													140.0	133.0	135.0					3																	88040063		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.164A>C	3.37:g.88040063A>C	ENSP00000322924:p.His55Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.H55P	ENST00000319595.4	37	c.164	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378741	0.61735	.	.	ENSG00000179097	ENST00000319595	T	0.41400	1.0	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	H	0.95884	3.735	0.45477	D	0.998444	D	0.89917	1.0	D	0.91635	0.999	T	0.82950	-0.0203	10	0.72032	D	0.01	.	13.5477	0.61713	1.0:0.0:0.0:0.0	.	55	P30939	5HT1F_HUMAN	P	55	ENSP00000322924:H55P	ENSP00000322924:H55P	H	+	2	0	HTR1F	88122753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.535000	0.82014	2.100000	0.63781	0.477000	0.44152	CAC	HTR1F	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179097		0.468	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	173	0.57	1	A	NM_000866		88040063	88040063	+1	no_errors	ENST00000319595	ensembl	human	known	69_37n	missense	131	22.94	39	SNP	1.000	C
HTR2C	3358	genome.wustl.edu	37	X	114082647	114082647	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:114082647A>C	ENST00000276198.1	+	5	1159	c.431A>C	c.(430-432)cAc>cCc	p.H144P	HTR2C_ENST00000371950.3_Missense_Mutation_p.H144P|HTR2C_ENST00000371951.1_Missense_Mutation_p.H144P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	144					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCCATCATGCACCTCTGCGCT	0.428																																						dbGAP											0													201.0	167.0	179.0					X																	114082647		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.431A>C	X.37:g.114082647A>C	ENSP00000276198:p.His144Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.H144P	ENST00000276198.1	37	c.431	CCDS14564.1	X	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135406	0.77662	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.37411	2.14;2.14;1.2	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.79242	-0.1884	10	0.66056	D	0.02	.	10.7471	0.46187	1.0:0.0:0.0:0.0	.	144;144	B1AMW4;P28335	.;5HT2C_HUMAN	P	144	ENSP00000276198:H144P;ENSP00000361019:H144P;ENSP00000361018:H144P	ENSP00000276198:H144P	H	+	2	0	HTR2C	113988903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.178000	0.94855	1.427000	0.47276	0.441000	0.28932	CAC	HTR2C	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000147246		0.428	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	286	0.69	2	A	NM_000868		114082647	114082647	+1	no_errors	ENST00000276198	ensembl	human	known	69_37n	missense	175	14.15	29	SNP	1.000	C
HTR3A	3359	genome.wustl.edu	37	11	113853925	113853925	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:113853925T>G	ENST00000504030.2	+	5	903	c.458T>G	c.(457-459)gTg>gGg	p.V153G	HTR3A_ENST00000375498.2_Missense_Mutation_p.V159G|HTR3A_ENST00000299961.5_Missense_Mutation_p.V138G|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.V153G|HTR3A_ENST00000355556.2_Missense_Mutation_p.V159G			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	153					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCCTTCAGGTGGTGACTGCC	0.547																																						dbGAP											0													205.0	183.0	190.0					11																	113853925		2201	4296	6497	-	-	-	SO:0001583	missense	0			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.458T>G	11.37:g.113853925T>G	ENSP00000424189:p.Val153Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V159G	ENST00000504030.2	37	c.476		11	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547701	0.86022	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.39	5.39	0.77823	.	0.059245	0.64402	D	0.000003	D	0.91408	0.7289	M	0.91561	3.22	0.80722	D	1	D;D;D	0.63880	0.982;0.99;0.993	D;D;D	0.70487	0.95;0.959;0.969	D	0.93330	0.6700	10	0.87932	D	0	-19.8174	15.4143	0.74952	0.0:0.0:0.0:1.0	.	138;159;159	B4DSY6;G5E986;Q7KZM7	.;.;.	G	153;159;159;153;138	ENSP00000424189:V153G;ENSP00000347754:V159G;ENSP00000364648:V159G;ENSP00000424776:V153G;ENSP00000299961:V138G	ENSP00000299961:V138G	V	+	2	0	HTR3A	113359135	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.993000	0.88291	2.048000	0.60808	0.454000	0.30748	GTG	HTR3A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000166736		0.547	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	254	0.00	0	T	NM_000869		113853925	113853925	+1	no_errors	ENST00000355556	ensembl	human	known	69_37n	missense	207	10.73	25	SNP	1.000	G
HTR3D	200909	genome.wustl.edu	37	3	183756198	183756198	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:183756198T>G	ENST00000382489.3	+	7	921	c.921T>G	c.(919-921)ggT>ggG	p.G307G	HTR3D_ENST00000334128.2_Splice_Site_p.G132G|HTR3D_ENST00000428798.2_Splice_Site_p.G257G|HTR3D_ENST00000453435.1_Splice_Site_p.G86G	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	307					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TGCCTGCAGGTGTCTACTTCG	0.587																																						dbGAP											0													76.0	73.0	74.0					3																	183756198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.921T>G	3.37:g.183756198T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.G307	ENST00000382489.3	37	c.921	CCDS54685.1	3																																																																																			HTR3D	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000186090		0.587	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	161	0.00	0	T	NM_182537		183756198	183756198	+1	no_errors	ENST00000382489	ensembl	human	known	69_37n	silent	154	14.44	26	SNP	1.000	G
HUNK	30811	genome.wustl.edu	37	21	33371431	33371431	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:33371431A>C	ENST00000270112.2	+	11	2439	c.2079A>C	c.(2077-2079)ccA>ccC	p.P693P		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	693					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCTGCCCCCACTGCAGCCCC	0.597																																						dbGAP											0													60.0	68.0	65.0					21																	33371431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2079A>C	21.37:g.33371431A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P693	ENST00000270112.2	37	c.2079	CCDS13610.1	21																																																																																			HUNK	-	NULL	ENSG00000142149		0.597	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	97	0.00	0	A	NM_014586		33371431	33371431	+1	no_errors	ENST00000270112	ensembl	human	known	69_37n	silent	82	14.58	14	SNP	0.152	C
HUWE1	10075	genome.wustl.edu	37	X	53596651	53596651	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:53596651A>C	ENST00000342160.3	-	47	6906	c.6449T>G	c.(6448-6450)gTg>gGg	p.V2150G	HUWE1_ENST00000262854.6_Missense_Mutation_p.V2150G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2150					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CACTAGGGCCACCTGGGCATC	0.577																																						dbGAP											0													118.0	106.0	110.0					X																	53596651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6449T>G	X.37:g.53596651A>C	ENSP00000340648:p.Val2150Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.V2150G	ENST00000342160.3	37	c.6449	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942393	0.34283	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.35973	1.28;1.28	5.15	5.15	0.70609	Armadillo-like helical (1);	0.000000	0.64402	D	0.000002	T	0.20170	0.0485	N	0.12182	0.205	0.80722	D	1	B;B	0.34015	0.435;0.386	B;B	0.31191	0.111;0.125	T	0.08638	-1.0712	10	0.21014	T	0.42	.	13.009	0.58722	1.0:0.0:0.0:0.0	.	2150;2150	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2150	ENSP00000340648:V2150G;ENSP00000262854:V2150G	ENSP00000262854:V2150G	V	-	2	0	HUWE1	53613376	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.894000	0.69806	1.712000	0.51347	0.417000	0.27973	GTG	HUWE1	-	NULL	ENSG00000086758		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	190	0.00	0	A	XM_497119		53596651	53596651	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	174	16.27	34	SNP	1.000	C
ICK	22858	genome.wustl.edu	37	6	52876621	52876621	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:52876621T>G	ENST00000350082.5	-	11	1784	c.1438A>C	c.(1438-1440)Acc>Ccc	p.T480P	ICK_ENST00000356971.3_Missense_Mutation_p.T480P	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	480					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GATCTCAGGGTGGGCGTGTCT	0.488																																						dbGAP											0													107.0	110.0	109.0					6																	52876621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1438A>C	6.37:g.52876621T>G	ENSP00000263043:p.Thr480Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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,pfscan_Prot_kinase_cat_dom	p.T480P	ENST00000350082.5	37	c.1438	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629371	0.46944	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72615	-0.67;-0.67	5.66	5.66	0.87406	.	0.112873	0.64402	D	0.000008	T	0.57784	0.2077	L	0.60455	1.87	0.49299	D	0.999779	B	0.16603	0.018	B	0.15052	0.012	T	0.61773	-0.6994	10	0.66056	D	0.02	-0.3381	15.8895	0.79286	0.0:0.0:0.0:1.0	.	480	Q9UPZ9	ICK_HUMAN	P	480	ENSP00000263043:T480P;ENSP00000349458:T480P	ENSP00000263043:T480P	T	-	1	0	ICK	52984580	0.999000	0.42202	0.713000	0.30519	0.500000	0.33767	3.795000	0.55499	2.153000	0.67306	0.459000	0.35465	ACC	ICK	-	NULL	ENSG00000112144		0.488	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	116	0.00	0	T	NM_016513		52876621	52876621	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	0.955	G
ICK	22858	genome.wustl.edu	37	6	52883234	52883234	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:52883234A>C	ENST00000350082.5	-	7	903	c.557T>G	c.(556-558)gTg>gGg	p.V186G	ICK_ENST00000356971.3_Missense_Mutation_p.V186G	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GATGCAGCCCACCGCCCAGAC	0.512																																						dbGAP											0													123.0	118.0	119.0					6																	52883234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.557T>G	6.37:g.52883234A>C	ENSP00000263043:p.Val186Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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,pfscan_Prot_kinase_cat_dom	p.V186G	ENST00000350082.5	37	c.557	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582520	0.86748	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.67865	-0.29;-0.29	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.47716	1.5	0.80722	D	1	D;D	0.56746	0.977;0.967	P;P	0.62885	0.908;0.892	T	0.74262	-0.3722	10	0.87932	D	0	-11.7195	15.2599	0.73613	1.0:0.0:0.0:0.0	.	186;186	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	G	186	ENSP00000263043:V186G;ENSP00000349458:V186G	ENSP00000263043:V186G	V	-	2	0	ICK	52991193	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	9.127000	0.94417	2.173000	0.68751	0.454000	0.30748	GTG	ICK	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000112144		0.512	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	224	0.00	0	A	NM_016513		52883234	52883234	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	missense	254	15.28	46	SNP	1.000	C
ID3	3399	genome.wustl.edu	37	1	23885718	23885718	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23885718A>C	ENST00000374561.5	-	1	567	c.200T>G	c.(199-201)gTg>gGg	p.V67G	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	67	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TAGGATTTCCACCTGGCTAAG	0.632																																						dbGAP											0													58.0	62.0	61.0					1																	23885718		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.200T>G	1.37:g.23885718A>C	ENSP00000363689:p.Val67Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T8|O75641	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.V67G	ENST00000374561.5	37	c.200	CCDS237.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535502	0.85812	.	.	ENSG00000117318	ENST00000374561	D	0.98044	-4.68	5.6	5.6	0.85130	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.99751	1.1018	10	0.87932	D	0	0.4442	14.6048	0.68469	1.0:0.0:0.0:0.0	.	67	Q02535	ID3_HUMAN	G	67	ENSP00000363689:V67G	ENSP00000363689:V67G	V	-	2	0	ID3	23758305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.126000	0.65437	0.482000	0.46254	GTG	ID3	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000117318		0.632	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID3	HGNC	protein_coding	OTTHUMT00000008904.1	48	0.00	0	A	NM_002167		23885718	23885718	-1	no_errors	ENST00000374561	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	1.000	C
IDE	3416	genome.wustl.edu	37	10	94267956	94267956	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:94267956A>C	ENST00000265986.6	-	8	1123	c.1067T>G	c.(1066-1068)gTt>gGt	p.V356G		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	356					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AAGAGTATTAACCCAGCCTGC	0.358																																						dbGAP											0													131.0	139.0	136.0					10																	94267956		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1067T>G	10.37:g.94267956A>C	ENSP00000265986:p.Val356Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.V356G	ENST00000265986.6	37	c.1067	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816612	0.50633	.	.	ENSG00000119912	ENST00000265986	T	0.07908	3.15	5.24	5.24	0.73138	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.55481	1.735	0.80722	D	1	P	0.38110	0.618	P	0.49301	0.606	T	0.00724	-1.1593	10	0.42905	T	0.14	-14.2038	15.4411	0.75184	1.0:0.0:0.0:0.0	.	356	P14735	IDE_HUMAN	G	356	ENSP00000265986:V356G	ENSP00000265986:V356G	V	-	2	0	IDE	94257936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.118000	0.94355	2.114000	0.64651	0.455000	0.32223	GTT	IDE	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000119912		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	256	0.39	1	A	NM_004969		94267956	94267956	-1	no_errors	ENST00000265986	ensembl	human	known	69_37n	missense	230	14.76	40	SNP	1.000	C
IFI16	3428	genome.wustl.edu	37	1	158986469	158986469	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:158986469A>C	ENST00000295809.7	+	4	783	c.528A>C	c.(526-528)ccA>ccC	p.P176P	IFI16_ENST00000368131.4_Silent_p.P176P|IFI16_ENST00000359709.3_Intron|IFI16_ENST00000430894.2_Intron|IFI16_ENST00000340979.6_Silent_p.P176P|IFI16_ENST00000368132.3_Silent_p.P176P|IFI16_ENST00000448393.2_Silent_p.P176P			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	176					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGTCAGCTCCACCCAACAGTT	0.502																																						dbGAP											0													144.0	128.0	133.0					1																	158986469		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.528A>C	1.37:g.158986469A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.P176	ENST00000295809.7	37	c.528		1																																																																																			IFI16	-	NULL	ENSG00000163565		0.502	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	163	0.00	0	A	NM_005531		158986469	158986469	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	silent	285	11.96	39	SNP	0.001	C
IFI35	3430	genome.wustl.edu	37	17	41165193	41165193	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:41165193A>C	ENST00000415816.2	+	3	473	c.250A>C	c.(250-252)Acc>Ccc	p.T84P	IFI35_ENST00000438323.2_Missense_Mutation_p.T84P	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	84					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TGCTCTGATCACCTTTGATGA	0.577																																						dbGAP											0													104.0	107.0	106.0					17																	41165193		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.250A>C	17.37:g.41165193A>C	ENSP00000394579:p.Thr84Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.T84P	ENST00000415816.2	37	c.250		17	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451556	0.63290	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.58797	0.31;0.31	5.23	4.1	0.47936	Nmi/IFP 35 (1);	0.276068	0.40222	N	0.001155	T	0.72495	0.3467	M	0.87456	2.885	0.42021	D	0.990984	D	0.53462	0.96	P	0.57776	0.827	T	0.77496	-0.2566	10	0.87932	D	0	.	9.3899	0.38367	0.8422:0.0:0.0:0.1578	.	84	P80217	IN35_HUMAN	P	84	ENSP00000394579:T84P;ENSP00000395590:T84P	ENSP00000394579:T84P	T	+	1	0	IFI35	38418719	0.982000	0.34865	0.888000	0.34837	0.796000	0.44982	3.778000	0.55371	2.200000	0.70718	0.459000	0.35465	ACC	IFI35	-	pfam_Nmi/IFP35	ENSG00000068079		0.577	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	HGNC	protein_coding	OTTHUMT00000395851.1	105	0.94	1	A	NM_005533		41165193	41165193	+1	no_errors	ENST00000438323	ensembl	human	known	69_37n	missense	98	20.33	25	SNP	0.878	C
IFIT1	3434	genome.wustl.edu	37	10	91162394	91162394	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:91162394T>G	ENST00000371804.3	+	2	529	c.362T>G	c.(361-363)gTg>gGg	p.V121G	IFIT1_ENST00000546318.1_Missense_Mutation_p.V90G|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	121					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGACAAGGTGGAGAACATT	0.498																																						dbGAP											0													49.0	50.0	49.0					10																	91162394		2203	4300	6503	-	-	-	SO:0001583	missense	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.362T>G	10.37:g.91162394T>G	ENSP00000360869:p.Val121Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V121G	ENST00000371804.3	37	c.362	CCDS31243.1	10	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136520	0.77662	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	D;D	0.94457	-3.43;-3.43	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.070022	0.56097	D	0.000028	D	0.97592	0.9211	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98225	1.0480	10	0.59425	D	0.04	.	14.8143	0.70020	0.0:0.0:0.0:1.0	.	121;121	Q5T7J1;P09914	.;IFIT1_HUMAN	G	121;90	ENSP00000360869:V121G;ENSP00000441968:V90G	ENSP00000360869:V121G	V	+	2	0	IFIT1	91152374	1.000000	0.71417	0.996000	0.52242	0.719000	0.41307	4.272000	0.58908	2.138000	0.66242	0.460000	0.39030	GTG	IFIT1	-	smart_TPR_repeat	ENSG00000185745		0.498	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	187	0.00	0	T	NM_001548		91162394	91162394	+1	no_errors	ENST00000371804	ensembl	human	known	69_37n	missense	160	15.54	30	SNP	1.000	G
IFNA21	3452	genome.wustl.edu	37	9	21166226	21166226	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:21166226A>C	ENST00000380225.1	-	1	433	c.386T>G	c.(385-387)gTg>gGg	p.V129G		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGTCTCTTCCACCCCAACCTC	0.463																																						dbGAP											0													189.0	193.0	191.0					9																	21166226		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.386T>G	9.37:g.21166226A>C	ENSP00000369574:p.Val129Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.V129G	ENST00000380225.1	37	c.386	CCDS6497.1	9	.	.	.	.	.	.	.	.	.	.	N	14.08	2.428434	0.43122	.	.	ENSG00000137080	ENST00000380225	T	0.03413	3.94	4.02	-5.27	0.02763	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.507550	0.03550	N	0.225260	T	0.15998	0.0385	M	0.87900	2.915	0.09310	N	0.999997	P	0.42161	0.772	P	0.57911	0.829	T	0.47407	-0.9120	10	0.87932	D	0	.	6.8354	0.23933	0.3293:0.1149:0.0:0.5557	.	129	P01568	IFN21_HUMAN	G	129	ENSP00000369574:V129G	ENSP00000369574:V129G	V	-	2	0	IFNA21	21156226	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.919000	0.01572	-0.560000	0.06102	0.524000	0.50904	GTG	IFNA21	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000137080		0.463	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA21	HGNC	protein_coding	OTTHUMT00000051882.1	515	0.77	4	A	NM_002175		21166226	21166226	-1	no_errors	ENST00000380225	ensembl	human	known	69_37n	missense	420	12.29	59	SNP	0.000	C
IFNA14	3448	genome.wustl.edu	37	9	21239549	21239549	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:21239549A>C	ENST00000380222.2	-	1	429	c.386T>G	c.(385-387)gTg>gGg	p.V129G		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGTCTCTTCCACCCCAACCTC	0.448																																						dbGAP											0													178.0	183.0	181.0					9																	21239549		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.386T>G	9.37:g.21239549A>C	ENSP00000369571:p.Val129Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ56|Q7M4S1	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.V129G	ENST00000380222.2	37	c.386	CCDS6501.1	9	.	.	.	.	.	.	.	.	.	.	-	11.07	1.531641	0.27387	.	.	ENSG00000228083	ENST00000380222	T	0.03413	3.94	3.38	-6.76	0.01732	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.507700	0.03549	N	0.225206	T	0.14485	0.0350	M	0.88377	2.95	0.09310	N	0.999997	P	0.47484	0.896	D	0.62955	0.909	T	0.44452	-0.9327	10	0.87932	D	0	.	0.3986	0.00422	0.1974:0.2047:0.2618:0.3361	.	129	P01570	IFN14_HUMAN	G	129	ENSP00000369571:V129G	ENSP00000369571:V129G	V	-	2	0	IFNA14	21229549	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.653000	0.00856	-2.803000	0.00351	0.327000	0.21459	GTG	IFNA14	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000228083		0.448	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA14	HGNC	protein_coding	OTTHUMT00000051894.1	466	0.42	2	A	NM_002172		21239549	21239549	-1	no_errors	ENST00000380222	ensembl	human	known	69_37n	missense	475	16.64	95	SNP	0.000	C
IFNA6	3443	genome.wustl.edu	37	9	21350852	21350852	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:21350852A>C	ENST00000380210.1	-	1	525	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	12					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCTGAGCACCACCAGGGCCAT	0.527																																						dbGAP											0													96.0	94.0	95.0					9																	21350852		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.35T>G	9.37:g.21350852A>C	ENSP00000369558:p.Val12Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYQ1	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.V12G	ENST00000380210.1	37	c.35	CCDS6504.1	9	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805240	0.31961	.	.	ENSG00000120235	ENST00000380210	T	0.04551	3.6	3.78	2.62	0.31277	.	0.864502	0.09749	N	0.760883	T	0.14614	0.0353	M	0.92604	3.325	0.37879	D	0.93031	P	0.37985	0.613	B	0.42282	0.382	T	0.02275	-1.1184	10	0.87932	D	0	.	5.7506	0.18144	0.7693:0.0:0.2307:0.0	.	12	P05013	IFNA6_HUMAN	G	12	ENSP00000369558:V12G	ENSP00000369558:V12G	V	-	2	0	IFNA6	21340852	0.002000	0.14202	0.158000	0.22627	0.090000	0.18270	1.138000	0.31491	0.432000	0.26286	-0.332000	0.08345	GTG	IFNA6	-	pfam_Interferon_alpha/beta/delta	ENSG00000120235		0.527	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA6	HGNC	protein_coding	OTTHUMT00000051905.1	202	0.00	0	A	NM_021002		21350852	21350852	-1	no_errors	ENST00000380210	ensembl	human	known	69_37n	missense	154	14.84	27	SNP	0.719	C
IFNA8	3445	genome.wustl.edu	37	9	21409555	21409555	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:21409555T>G	ENST00000380205.1	+	1	410	c.380T>G	c.(379-381)gTg>gGg	p.V127G		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	127					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATGCAGGAAGTGGGGGTGATA	0.473																																						dbGAP											0													135.0	134.0	134.0					9																	21409555		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.380T>G	9.37:g.21409555T>G	ENSP00000369553:p.Val127Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.V127G	ENST00000380205.1	37	c.380	CCDS6507.1	9	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372996	0.24857	.	.	ENSG00000120242	ENST00000380205	T	0.03524	3.9	3.31	-2.51	0.06365	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.186920	0.05947	N	0.638150	T	0.08223	0.0205	M	0.76328	2.33	0.09310	N	0.999997	B	0.28760	0.221	B	0.41236	0.351	T	0.47799	-0.9089	10	0.54805	T	0.06	.	2.9861	0.05969	0.3273:0.3183:0.0:0.3544	.	127	P32881	IFNA8_HUMAN	G	127	ENSP00000369553:V127G	ENSP00000369553:V127G	V	+	2	0	IFNA8	21399555	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.909000	0.04058	-0.634000	0.05538	0.260000	0.18958	GTG	IFNA8	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000120242		0.473	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	HGNC	protein_coding	OTTHUMT00000051906.1	290	0.34	1	T	NM_002170		21409555	21409555	+1	no_errors	ENST00000380205	ensembl	human	known	69_37n	missense	312	12.57	45	SNP	0.000	G
IFT172	26160	genome.wustl.edu	37	2	27700150	27700150	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27700150A>C	ENST00000260570.3	-	13	1362	c.1259T>G	c.(1258-1260)gTg>gGg	p.V420G	IFT172_ENST00000416524.2_Missense_Mutation_p.V399G|IFT172_ENST00000359466.6_Missense_Mutation_p.V420G|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	420					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCCATATTCCACCAGGGTTAG	0.463																																						dbGAP											0													136.0	139.0	138.0					2																	27700150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1259T>G	2.37:g.27700150A>C	ENSP00000260570:p.Val420Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.V420G	ENST00000260570.3	37	c.1259	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273311	0.59649	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.27104	3.31;1.69;1.69	5.83	4.65	0.58169	WD40 repeat-like-containing domain (1);	0.055848	0.64402	N	0.000001	T	0.42131	0.1189	M	0.76574	2.34	0.80722	D	1	B;P;B;P	0.48911	0.054;0.917;0.096;0.688	B;P;B;P	0.52823	0.053;0.71;0.077;0.603	T	0.39143	-0.9628	10	0.87932	D	0	-16.8484	11.9458	0.52928	0.8544:0.1456:0.0:0.0	.	420;420;394;420	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	G	420;420;399	ENSP00000260570:V420G;ENSP00000352443:V420G;ENSP00000407408:V399G	ENSP00000260570:V420G	V	-	2	0	IFT172	27553654	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.566000	0.90734	0.997000	0.38969	0.455000	0.32223	GTG	IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.463	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	276	0.00	0	A	NM_015662		27700150	27700150	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	278	10.86	34	SNP	1.000	C
IFT172	26160	genome.wustl.edu	37	2	27700950	27700950	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27700950A>C	ENST00000260570.3	-	11	1182	c.1079T>G	c.(1078-1080)gTg>gGg	p.V360G	IFT172_ENST00000416524.2_Missense_Mutation_p.V339G|IFT172_ENST00000359466.6_Missense_Mutation_p.V360G|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	360					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TAGGATTTTCACCTCTTCCAC	0.493																																						dbGAP											0													263.0	229.0	240.0					2																	27700950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1079T>G	2.37:g.27700950A>C	ENSP00000260570:p.Val360Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.V360G	ENST00000260570.3	37	c.1079	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989573	0.74589	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.96554	3.25;-4.05;-4.05	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.88105	2.93	0.80722	D	1	B;B;B;B	0.29805	0.159;0.202;0.159;0.257	B;B;B;B	0.30105	0.111;0.019;0.111;0.032	D	0.95662	0.8716	10	0.87932	D	0	-17.108	15.2724	0.73712	1.0:0.0:0.0:0.0	.	360;360;334;360	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	G	360;360;339	ENSP00000260570:V360G;ENSP00000352443:V360G;ENSP00000407408:V339G	ENSP00000260570:V360G	V	-	2	0	IFT172	27554454	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.879000	0.92398	2.289000	0.77006	0.528000	0.53228	GTG	IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	424	0.93	4	A	NM_015662		27700950	27700950	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	341	17.23	71	SNP	1.000	C
IFT172	26160	genome.wustl.edu	37	2	27700959	27700959	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27700959A>C	ENST00000260570.3	-	11	1173	c.1070T>G	c.(1069-1071)gTg>gGg	p.V357G	IFT172_ENST00000416524.2_Missense_Mutation_p.V336G|IFT172_ENST00000359466.6_Missense_Mutation_p.V357G|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	357					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACCTCTTCCACCTCATAGCC	0.498																																						dbGAP											0													250.0	218.0	229.0					2																	27700959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1070T>G	2.37:g.27700959A>C	ENSP00000260570:p.Val357Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.V357G	ENST00000260570.3	37	c.1070	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089613	0.76756	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.96913	3.01;-4.17;-4.17	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.166295	0.51477	D	0.000100	D	0.96800	0.8955	L	0.48642	1.525	0.80722	D	1	P;P;D;P	0.64830	0.849;0.677;0.994;0.54	B;B;P;B	0.61328	0.288;0.203;0.887;0.405	D	0.97365	0.9972	10	0.87932	D	0	-16.7099	15.2724	0.73712	1.0:0.0:0.0:0.0	.	357;357;331;357	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	G	357;357;336	ENSP00000260570:V357G;ENSP00000352443:V357G;ENSP00000407408:V336G	ENSP00000260570:V357G	V	-	2	0	IFT172	27554463	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.879000	0.92398	2.289000	0.77006	0.528000	0.53228	GTG	IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	432	0.69	3	A	NM_015662		27700959	27700959	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	323	19.05	76	SNP	1.000	C
IFT172	26160	genome.wustl.edu	37	2	27707130	27707130	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27707130A>C	ENST00000260570.3	-	4	403	c.300T>G	c.(298-300)ggT>ggG	p.G100G	IFT172_ENST00000416524.2_Silent_p.G79G|IFT172_ENST00000359466.6_Silent_p.G100G	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	100					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTTTCTTGTCACCCCTGCCAA	0.473																																						dbGAP											0													107.0	105.0	106.0					2																	27707130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.300T>G	2.37:g.27707130A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.G100	ENST00000260570.3	37	c.300	CCDS1755.1	2																																																																																			IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.473	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	138	0.00	0	A	NM_015662		27707130	27707130	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	silent	90	15.09	16	SNP	1.000	C
IGF2BP3	10643	genome.wustl.edu	37	7	23357301	23357301	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:23357301A>C	ENST00000258729.3	-	12	1708	c.1352T>G	c.(1351-1353)gTg>gGg	p.V451G		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	451	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CACCATCCTCACTTTAGCATC	0.468																																						dbGAP											0													237.0	181.0	200.0					7																	23357301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1352T>G	7.37:g.23357301A>C	ENSP00000258729:p.Val451Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.V451G	ENST00000258729.3	37	c.1352	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802754	0.50315	.	.	ENSG00000136231	ENST00000258729	T	0.26957	1.7	5.63	4.41	0.53225	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.255087	0.39759	N	0.001267	T	0.22513	0.0543	N	0.21194	0.64	0.50171	D	0.999851	B	0.31009	0.303	B	0.39379	0.298	T	0.08973	-1.0696	10	0.46703	T	0.11	-4.4168	12.5458	0.56199	0.8756:0.0:0.0:0.1244	.	451	O00425	IF2B3_HUMAN	G	451	ENSP00000258729:V451G	ENSP00000258729:V451G	V	-	2	0	IGF2BP3	23323826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.502000	0.53332	2.281000	0.76405	0.533000	0.62120	GTG	IGF2BP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000136231		0.468	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	110	0.00	0	A	NM_006547		23357301	23357301	-1	no_errors	ENST00000258729	ensembl	human	known	69_37n	missense	103	15.57	19	SNP	1.000	C
IGFL2	147920	genome.wustl.edu	37	19	46664008	46664008	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:46664008A>C	ENST00000377693.4	+	3	247	c.211A>C	c.(211-213)Acc>Ccc	p.T71P	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000434646.2_Missense_Mutation_p.T82P|IGFL2_ENST00000600243.1_3'UTR	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	71						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCCCCCCTGCACCTTCTGGCC	0.542																																						dbGAP											0													214.0	224.0	220.0					19																	46664008		2199	4300	6499	-	-	-	SO:0001583	missense	0			AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.211A>C	19.37:g.46664008A>C	ENSP00000366922:p.Thr71Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAV1|Q6B9Z3	Missense_Mutation	SNP	NULL	p.T82P	ENST00000377693.4	37	c.244	CCDS46121.1	19	.	.	.	.	.	.	.	.	.	.	A	7.923	0.738956	0.15642	.	.	ENSG00000204866	ENST00000434646;ENST00000377693	T;T	0.29397	1.57;1.57	2.83	0.48	0.16804	.	.	.	.	.	T	0.27697	0.0681	L	0.52905	1.665	0.09310	N	1	B;B	0.25272	0.122;0.058	B;B	0.28139	0.086;0.04	T	0.29488	-1.0010	9	0.52906	T	0.07	-2.5559	6.8716	0.24123	0.5132:0.4868:0.0:0.0	.	71;82	Q6UWQ7;Q6UWQ7-2	IGFL2_HUMAN;.	P	82;71	ENSP00000395219:T82P;ENSP00000366922:T71P	ENSP00000366922:T71P	T	+	1	0	IGFL2	51355848	0.002000	0.14202	0.028000	0.17463	0.030000	0.12068	0.316000	0.19469	0.031000	0.15407	-0.842000	0.03052	ACC	IGFL2	-	NULL	ENSG00000204866		0.542	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGFL2	HGNC	protein_coding	OTTHUMT00000461705.1	269	0.00	0	A	NM_001002915		46664008	46664008	+1	no_errors	ENST00000434646	ensembl	human	known	69_37n	missense	330	14.14	55	SNP	0.040	C
IGHV1-24	28467	genome.wustl.edu	37	14	106733406	106733406	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106733406A>C	ENST00000390610.2	-	0	148									immunoglobulin heavy variable 1-24																		AGGCTTCTTCACCTCAGCCCC	0.582																																						dbGAP											0													126.0	121.0	122.0					14																	106733406		1946	4131	6077	-	-	-			0			M99642		14q32.33	2012-02-08			ENSG00000211950	ENSG00000211950		"""Immunoglobulins / IGH locus"""	5551	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152095		14.37:g.106733406A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V30G	ENST00000390610.2	37	c.89		14																																																																																			IGHV1-24	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211950		0.582	IGHV1-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-24	HGNC	IG_V_gene	OTTHUMT00000325192.1	276	0.71	2	A	NG_001019		106733406	106733406	-1	no_stop_codon	ENST00000390610	ensembl	human	known	69_37n	missense	226	15.56	42	SNP	0.648	C
IGHV1-69	28461	genome.wustl.edu	37	14	107170211	107170211	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:107170211A>C	ENST00000390633.2	-	0	131									immunoglobulin heavy variable 1-69																		CCCAGACTGCACCAGCTGCAC	0.557																																						dbGAP											0													105.0	82.0	89.0					14																	107170211		1931	4136	6067	-	-	-			0			L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107170211A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000390633.2	37	c.71		14																																																																																			IGHV1-69	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211973		0.557	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-69	HGNC	IG_V_gene	OTTHUMT00000324207.1	261	0.38	1	A	NG_001019		107170211	107170211	-1	no_stop_codon	ENST00000390633	ensembl	human	known	69_37n	missense	178	15.57	33	SNP	0.071	C
IGHV1-8	28472	genome.wustl.edu	37	14	106539341	106539341	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106539341A>C	ENST00000390599.2	-	0	150									immunoglobulin heavy variable 1-8																		AGGCTTCTTCACCTCAGCCCC	0.552																																						dbGAP											0													85.0	66.0	72.0					14																	106539341		1789	3452	5241	-	-	-			0			M99637		14q32.33	2012-02-08			ENSG00000211939			"""Immunoglobulins / IGH locus"""	5559	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152284		14.37:g.106539341A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V30G	ENST00000390599.2	37	c.89		14																																																																																			IGHV1-8	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211939		0.552	IGHV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-8	HGNC	IG_V_gene	OTTHUMT00000325672.1	464	0.64	3	A	NG_001019		106539341	106539341	-1	no_stop_codon	ENST00000390599	ensembl	human	known	69_37n	missense	230	16.36	45	SNP	0.000	C
IGHV3-21	28444	genome.wustl.edu	37	14	106691953	106691953	+	RNA	SNP	A	A	C	rs553128632		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106691953A>C	ENST00000390607.2	-	0	149									immunoglobulin heavy variable 3-21																		CCCAGACTCCACCAGCTGCAC	0.547																																						dbGAP											0													117.0	109.0	112.0					14																	106691953		1900	4128	6028	-	-	-			0			Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691953A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000390607.2	37	c.71		14																																																																																			IGHV3-21	-	NULL	ENSG00000211947		0.547	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-21	HGNC	IG_V_gene	OTTHUMT00000325667.1	372	0.80	3	A	NG_001019		106691953	106691953	-1	no_stop_codon	ENST00000390607	ensembl	human	known	69_37n	missense	292	13.57	46	SNP	0.989	C
IGHV3-38	28429	genome.wustl.edu	37	14	106866706	106866706	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106866706A>C	ENST00000390618.2	-	0	125									immunoglobulin heavy variable 3-38 (non-functional)																		CACACTGGACACCTGCAAACA	0.537																																						dbGAP											0													161.0	119.0	133.0					14																	106866706		2014	4126	6140	-	-	-			0			M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866706A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G16	ENST00000390618.2	37	c.48		14																																																																																			IGHV3-38	-	NULL	ENSG00000211958		0.537	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-38	HGNC	IG_V_gene	OTTHUMT00000325190.1	513	0.77	4	A	NG_001019		106866706	106866706	-1	no_stop_codon	ENST00000390618	ensembl	human	known	69_37n	silent	394	10.66	47	SNP	1.000	C
IGHV3-43	28426	genome.wustl.edu	37	14	106926471	106926471	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106926471A>C	ENST00000434710.1	-	0	150									immunoglobulin heavy variable 3-43																		CCCAGACTCCACCAGCTGCAC	0.542																																						dbGAP											0													171.0	110.0	130.0					14																	106926471		2011	4145	6156	-	-	-			0			M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926471A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000434710.1	37	c.71		14																																																																																			IGHV3-43	-	pfam_Ig_V-set	ENSG00000232216		0.542	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-43	HGNC	IG_V_gene	OTTHUMT00000325191.1	765	0.52	4	A	NG_001019		106926471	106926471	-1	no_stop_codon	ENST00000434710	ensembl	human	known	69_37n	missense	459	12.36	65	SNP	0.981	C
IGHV3-49	28423	genome.wustl.edu	37	14	107013224	107013224	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:107013224A>C	ENST00000390625.2	-	0	150									immunoglobulin heavy variable 3-49																		CCCAGACTCCACCAGCTGCAC	0.532																																						dbGAP											0													82.0	77.0	78.0					14																	107013224		1924	4131	6055	-	-	-			0			M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013224A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000390625.2	37	c.71		14																																																																																			IGHV3-49	-	NULL	ENSG00000211965		0.532	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-49	HGNC	IG_V_gene	OTTHUMT00000324613.1	383	0.78	3	A	NG_001019		107013224	107013224	-1	no_stop_codon	ENST00000390625	ensembl	human	known	69_37n	missense	211	14.80	37	SNP	0.819	C
IGHV1-69	28461	genome.wustl.edu	37	14	107170220	107170220	+	RNA	SNP	A	A	C	rs567093946		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:107170220A>C	ENST00000390633.2	-	0	122									immunoglobulin heavy variable 1-69																		CACCAGCTGCACCTGGGACTG	0.552													.|||	1	0.000199681	0.0	0.0014	5008	,	,		26031	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													99.0	78.0	85.0					14																	107170220		1926	4131	6057	-	-	-			0			L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107170220A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V21G	ENST00000390633.2	37	c.62		14																																																																																			IGHV1-69	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211973		0.552	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-69	HGNC	IG_V_gene	OTTHUMT00000324207.1	257	0.39	1	A	NG_001019		107170220	107170220	-1	no_stop_codon	ENST00000390633	ensembl	human	known	69_37n	missense	183	11.48	24	SNP	0.001	C
IGHV3-73	28409	genome.wustl.edu	37	14	107211150	107211150	+	RNA	SNP	T	T	G	rs562494074	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:107211150T>G	ENST00000390636.2	-	0	218									immunoglobulin heavy variable 3-73																		CCACTGAAGGTGAACCCAGAG	0.607																																						dbGAP											0													80.0	80.0	80.0					14																	107211150		1886	4112	5998	-	-	-			0			Z27508		14q32.33	2012-02-08			ENSG00000211976	ENSG00000211976		"""Immunoglobulins / IGH locus"""	5623	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151867		14.37:g.107211150T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T47P	ENST00000390636.2	37	c.139		14																																																																																			IGHV3-73	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211976		0.607	IGHV3-73-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-73	HGNC	IG_V_gene	OTTHUMT00000324212.1	273	0.00	0	T	NG_001019		107211150	107211150	-1	no_stop_codon	ENST00000390636	ensembl	human	known	69_37n	missense	196	11.61	26	SNP	0.878	G
IGHV3-9	28451	genome.wustl.edu	37	14	106552568	106552568	+	RNA	SNP	A	A	C	rs587754611	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106552568A>C	ENST00000390600.2	-	0	150									immunoglobulin heavy variable 3-9																		CCCAGACTCCACCAGCTGCAC	0.537																																						dbGAP											0													96.0	70.0	78.0					14																	106552568		1847	3543	5390	-	-	-			0			M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552568A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000390600.2	37	c.71		14																																																																																			IGHV3-9	-	NULL	ENSG00000211940		0.537	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-9	HGNC	IG_V_gene	OTTHUMT00000325679.1	423	0.93	4	A	NG_001019		106552568	106552568	-1	no_stop_codon	ENST00000390600	ensembl	human	known	69_37n	missense	342	12.08	47	SNP	0.915	C
IGHV4-28	28400	genome.wustl.edu	37	14	106780704	106780704	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:106780704A>C	ENST00000390612.2	-	0	231									immunoglobulin heavy variable 4-28																		ATCCAGCCCCACCAGTTACTA	0.592																																						dbGAP											0													84.0	84.0	84.0					14																	106780704		1914	4120	6034	-	-	-			0			X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780704A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.W54G	ENST00000390612.2	37	c.160		14																																																																																			IGHV4-28	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211952		0.592	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV4-28	HGNC	IG_V_gene	OTTHUMT00000325156.1	232	0.00	0	A	NG_001019		106780704	106780704	-1	no_stop_codon	ENST00000390612	ensembl	human	known	69_37n	missense	157	15.59	29	SNP	0.000	C
IGHV3-74	28408	genome.wustl.edu	37	14	107218956	107218956	+	RNA	SNP	A	A	C	rs62621888		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:107218956A>C	ENST00000424969.2	-	0	306									immunoglobulin heavy variable 3-74																		CCCGGACTCCACCAGCTGCAC	0.567																																						dbGAP											0													104.0	107.0	106.0					14																	107218956		1929	4129	6058	-	-	-			0			Z12353		14q32.33	2012-02-08			ENSG00000224650	ENSG00000224650		"""Immunoglobulins / IGH locus"""	5624	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151860		14.37:g.107218956A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000424969.2	37	c.71		14																																																																																			IGHV3-74	-	NULL	ENSG00000224650		0.567	IGHV3-74-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-74	HGNC	IG_V_gene	OTTHUMT00000324205.1	339	0.87	3	A	NG_001019		107218956	107218956	-1	no_stop_codon	ENST00000424969	ensembl	human	known	69_37n	missense	212	14.80	37	SNP	0.057	C
IGHV7-81	28378	genome.wustl.edu	37	14	107283072	107283072	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:107283072A>C	ENST00000390639.2	-	0	124									immunoglobulin heavy variable 7-81 (non-functional)																		GCCAGACTGCACCAGCTGCAC	0.577																																						dbGAP											0													121.0	130.0	127.0					14																	107283072		1982	4162	6144	-	-	-			0			Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107283072A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V24G	ENST00000390639.2	37	c.71		14																																																																																			IGHV7-81	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211979		0.577	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV7-81	HGNC	IG_V_gene	OTTHUMT00000323700.2	216	0.00	0	A	NG_001019		107283072	107283072	-1	no_stop_codon	ENST00000390639	ensembl	human	known	69_37n	missense	157	13.19	24	SNP	0.979	C
IGKV6D-41	28869	genome.wustl.edu	37	2	90108795	90108795	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:90108795T>G	ENST00000390271.2	+	0	86									immunoglobulin kappa variable 6D-41 (non-functional)																		CCTCCAGGGGTGATGTTGTGA	0.453																																						dbGAP											0													40.0	41.0	41.0					2																	90108795		1964	4153	6117	-	-	-			0			X12688		2p11.2	2012-02-10	2008-09-10		ENSG00000211626	ENSG00000211626		"""Immunoglobulins / IGK locus"""	5838	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-41"""				Standard	NG_000833		Approved				OTTHUMG00000151621		2.37:g.90108795T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G20	ENST00000390271.2	37	c.60		2																																																																																			IGKV6D-41	-	pfscan_Ig-like	ENSG00000211626		0.453	IGKV6D-41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV6D-41	HGNC	IG_V_gene	OTTHUMT00000323293.1	114	0.00	0	T	NG_000833		90108795	90108795	+1	no_stop_codon	ENST00000390271	ensembl	human	known	69_37n	silent	66	21.18	18	SNP	0.001	G
IGKV1D-43	28891	genome.wustl.edu	37	2	90249330	90249330	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:90249330A>C	ENST00000468879.1	+	0	467									immunoglobulin kappa variable 1D-43																		TTACACTCTCACCATCAGCAG	0.478																																						dbGAP											0													178.0	167.0	171.0					2																	90249330		1900	4116	6016	-	-	-			0			X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249330A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T96P	ENST00000468879.1	37	c.286		2																																																																																			IGKV1D-43	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000242580		0.478	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-43	HGNC	IG_V_gene	OTTHUMT00000323147.2	448	0.44	2	A	NG_000833		90249330	90249330	+1	no_stop_codon	ENST00000468879	ensembl	human	known	69_37n	missense	376	12.47	54	SNP	1.000	C
IGLV1-50	28821	genome.wustl.edu	37	22	22682086	22682086	+	RNA	SNP	A	A	C	rs539397324	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:22682086A>C	ENST00000390291.2	+	0	319									immunoglobulin lambda variable 1-50 (non-functional)																		CAAGTCTGGCACCTCAGCCTC	0.547																																						dbGAP											0													131.0	132.0	131.0					22																	22682086		1919	4144	6063	-	-	-			0			M94112		22q11.2	2012-02-08	2008-09-15		ENSG00000211645	ENSG00000211645		"""Immunoglobulins / IGL locus"""	5881	other	immunoglobulin gene			"""immunoglobulin lambda variable 1-50"""				Standard	NG_000002		Approved				OTTHUMG00000151051		22.37:g.22682086A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T90P	ENST00000390291.2	37	c.268		22																																																																																			IGLV1-50	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211645		0.547	IGLV1-50-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV1-50	HGNC	IG_V_gene	OTTHUMT00000321111.3	296	0.67	2	A	NG_000002		22682086	22682086	+1	no_stop_codon	ENST00000390291	ensembl	human	known	69_37n	missense	176	19.27	42	SNP	0.003	C
IGSF1	3547	genome.wustl.edu	37	X	130409514	130409514	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:130409514T>G	ENST00000361420.3	-	16	3201	c.3122A>C	c.(3121-3123)cAc>cCc	p.H1041P	IGSF1_ENST00000370903.3_Missense_Mutation_p.H1046P|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.H1032P|IGSF1_ENST00000370910.1_Missense_Mutation_p.H1032P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1041	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGTCAGGGTGGTAGCAGCA	0.527																																						dbGAP											0													159.0	133.0	142.0					X																	130409514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3122A>C	X.37:g.130409514T>G	ENSP00000355010:p.His1041Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H1046P	ENST00000361420.3	37	c.3137	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525013	0.44969	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.32	5.32	0.75619	Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000145	T	0.27454	0.0674	L	0.47016	1.485	0.30378	N	0.782261	B;D;D	0.67145	0.234;0.984;0.996	B;P;D	0.78314	0.405;0.89;0.991	T	0.07404	-1.0774	10	0.33940	T	0.23	.	10.9266	0.47195	0.0:0.0:0.0:1.0	.	1032;485;1041	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	P	1032;1041;1032;1046	ENSP00000359947:H1032P;ENSP00000355010:H1041P;ENSP00000359941:H1032P;ENSP00000359940:H1046P	ENSP00000355010:H1041P	H	-	2	0	IGSF1	130237195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.834000	0.55798	2.045000	0.60652	0.486000	0.48141	CAC	IGSF1	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000147255		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	310	0.32	1	T			130409514	130409514	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	246	13.99	40	SNP	1.000	G
IGSF1	3547	genome.wustl.edu	37	X	130411005	130411005	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:130411005A>C	ENST00000361420.3	-	14	2595	c.2516T>G	c.(2515-2517)gTg>gGg	p.V839G	IGSF1_ENST00000370903.3_Missense_Mutation_p.V844G|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370904.1_Missense_Mutation_p.V830G|IGSF1_ENST00000370910.1_Missense_Mutation_p.V830G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	839	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAATGCCCACCGAAATGAT	0.498																																						dbGAP											0													180.0	185.0	183.0					X																	130411005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2516T>G	X.37:g.130411005A>C	ENSP00000355010:p.Val839Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V844G	ENST00000361420.3	37	c.2531	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	A	13.44	2.237811	0.39598	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.39	2.83	0.33086	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.590783	0.16431	N	0.214739	T	0.31009	0.0783	H	0.94222	3.51	0.53688	D	0.999972	B;B;B	0.31752	0.024;0.146;0.338	B;B;B	0.36464	0.225;0.143;0.171	T	0.16689	-1.0394	10	0.87932	D	0	.	4.4113	0.11434	0.7238:0.0:0.1006:0.1756	.	830;283;839	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	G	830;839;830;844	ENSP00000359947:V830G;ENSP00000355010:V839G;ENSP00000359941:V830G;ENSP00000359940:V844G	ENSP00000355010:V839G	V	-	2	0	IGSF1	130238686	0.025000	0.19082	0.973000	0.42090	0.406000	0.30931	0.686000	0.25392	0.787000	0.33731	-0.314000	0.08810	GTG	IGSF1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147255		0.498	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	509	0.97	5	A			130411005	130411005	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	495	10.43	58	SNP	0.633	C
IGSF10	285313	genome.wustl.edu	37	3	151161597	151161597	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:151161597A>C	ENST00000282466.3	-	5	5137	c.5138T>G	c.(5137-5139)gTg>gGg	p.V1713G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1713	Ig-like C2-type 3.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAATTTCCACCCTCTGGAT	0.468																																						dbGAP											0													77.0	69.0	72.0					3																	151161597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5138T>G	3.37:g.151161597A>C	ENSP00000282466:p.Val1713Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V1713G	ENST00000282466.3	37	c.5138	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153707	0.57259	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.72394	-0.65	5.25	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327600	0.22016	N	0.065792	D	0.84696	0.5529	M	0.91818	3.245	0.51482	D	0.999926	D	0.64830	0.994	D	0.66979	0.948	D	0.86808	0.1996	9	.	.	.	.	9.5044	0.39037	0.8581:0.0:0.1419:0.0	.	1713	Q6WRI0	IGS10_HUMAN	G	1713;340	ENSP00000282466:V1713G	.	V	-	2	0	IGSF10	152644287	0.992000	0.36948	0.999000	0.59377	0.973000	0.67179	2.831000	0.48144	1.989000	0.58080	0.477000	0.44152	GTG	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000152580		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	75	0.00	0	A	NM_178822		151161597	151161597	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	60	25.00	20	SNP	0.987	C
IGSF10	285313	genome.wustl.edu	37	3	151166299	151166299	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:151166299A>C	ENST00000282466.3	-	4	1469	c.1470T>G	c.(1468-1470)ggT>ggG	p.G490G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	490	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAACGGTTCCACCTACCAAGA	0.483																																						dbGAP											0													236.0	222.0	226.0					3																	151166299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1470T>G	3.37:g.151166299A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G490	ENST00000282466.3	37	c.1470	CCDS3160.1	3																																																																																			IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000152580		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	469	0.42	2	A	NM_178822		151166299	151166299	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	silent	391	19.01	92	SNP	0.994	C
IGSF22	283284	genome.wustl.edu	37	11	18738505	18738505	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:18738505A>C	ENST00000513874.1	-	10	1155	c.1016T>G	c.(1015-1017)gTg>gGg	p.V339G	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	339										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCGCTCTGTCACCTTCACAGG	0.537																																						dbGAP											0													152.0	152.0	152.0					11																	18738505		2081	4217	6298	-	-	-	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1016T>G	11.37:g.18738505A>C	ENSP00000421191:p.Val339Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V339G	ENST00000513874.1	37	c.1016	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627552	0.66901	.	.	ENSG00000179057	ENST00000513874	T	0.72282	-0.64	5.03	5.03	0.67393	.	0.000000	0.32935	U	0.005464	T	0.80539	0.4642	M	0.72353	2.195	0.46981	D	0.999273	D	0.65815	0.995	P	0.62014	0.897	T	0.80903	-0.1174	10	0.42905	T	0.14	.	13.3325	0.60497	1.0:0.0:0.0:0.0	.	339	D6RGV7	.	G	339	ENSP00000421191:V339G	ENSP00000322422:V339G	V	-	2	0	IGSF22	18695081	0.997000	0.39634	0.996000	0.52242	0.932000	0.56968	2.710000	0.47169	1.885000	0.54596	0.533000	0.62120	GTG	IGSF22	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000179057		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	126	0.00	0	A	NM_173588		18738505	18738505	-1	no_errors	ENST00000513874	ensembl	human	known	69_37n	missense	191	19.17	46	SNP	1.000	C
IGSF8	93185	genome.wustl.edu	37	1	160064670	160064670	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:160064670A>C	ENST00000368086.1	-	2	647	c.431T>G	c.(430-432)gTg>gGg	p.V144G	IGSF8_ENST00000314485.7_Missense_Mutation_p.V144G|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	144	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCAGCTCCACCTTGCCGCT	0.607																																						dbGAP											0													29.0	31.0	30.0					1																	160064670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.431T>G	1.37:g.160064670A>C	ENSP00000357065:p.Val144Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.V144G	ENST00000368086.1	37	c.431	CCDS1195.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199309	0.79015	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.12465	3.23;3.23;2.68	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.096294	0.40554	N	0.001070	T	0.25082	0.0609	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.01484	-1.1343	10	0.54805	T	0.06	-15.066	13.7902	0.63135	1.0:0.0:0.0:0.0	.	144	Q969P0	IGSF8_HUMAN	G	144	ENSP00000316664:V144G;ENSP00000357065:V144G;ENSP00000397464:V144G	ENSP00000316664:V144G	V	-	2	0	IGSF8	158331294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.383000	0.59600	1.948000	0.56530	0.460000	0.39030	GTG	IGSF8	-	smart_Ig_sub	ENSG00000162729		0.607	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	82	0.00	0	A	NM_052868		160064670	160064670	-1	no_errors	ENST00000314485	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	C
IKBKAP	8518	genome.wustl.edu	37	9	111662598	111662598	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:111662598A>C	ENST00000374647.5	-	19	2379	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	IKBKAP_ENST00000537196.1_Missense_Mutation_p.V342G	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	691					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACCCCTCTCCACTTTCCGCAG	0.448																																						dbGAP											0													157.0	119.0	132.0					9																	111662598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2072T>G	9.37:g.111662598A>C	ENSP00000363779:p.Val691Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.V691G	ENST00000374647.5	37	c.2072	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381895	0.82792	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.37411	1.2;1.2	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74084	-0.3779	10	0.87932	D	0	-16.5614	13.3973	0.60861	1.0:0.0:0.0:0.0	.	691	O95163	ELP1_HUMAN	G	691;342	ENSP00000363779:V691G;ENSP00000439367:V342G	ENSP00000363779:V691G	V	-	2	0	IKBKAP	110702419	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.472000	0.90407	2.108000	0.64289	0.533000	0.62120	GTG	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.448	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	285	0.00	0	A			111662598	111662598	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	170	16.18	33	SNP	1.000	C
IKBKAP	8518	genome.wustl.edu	37	9	111663934	111663934	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:111663934A>C	ENST00000374647.5	-	17	2189	c.1882T>G	c.(1882-1884)Tgt>Ggt	p.C628G	IKBKAP_ENST00000537196.1_Missense_Mutation_p.C279G	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	628					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAAAAGCGACACCTGTCAGTC	0.393																																						dbGAP											0													150.0	133.0	139.0					9																	111663934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1882T>G	9.37:g.111663934A>C	ENSP00000363779:p.Cys628Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.C628G	ENST00000374647.5	37	c.1882	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	A	12.67	2.006862	0.35415	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.21543	2.0;2.0	5.94	5.94	0.96194	.	0.100856	0.64402	D	0.000001	T	0.10337	0.0253	N	0.10972	0.075	0.37845	D	0.929202	P	0.37781	0.608	B	0.30716	0.119	T	0.33803	-0.9854	10	0.22706	T	0.39	-4.8061	12.7916	0.57537	1.0:0.0:0.0:0.0	.	628	O95163	ELP1_HUMAN	G	628;279	ENSP00000363779:C628G;ENSP00000439367:C279G	ENSP00000363779:C628G	C	-	1	0	IKBKAP	110703755	0.980000	0.34600	0.953000	0.39169	0.930000	0.56654	4.697000	0.61782	2.275000	0.75901	0.528000	0.53228	TGT	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.393	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	319	0.31	1	A			111663934	111663934	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	236	12.27	33	SNP	0.994	C
IKZF4	64375	genome.wustl.edu	37	12	56428522	56428522	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56428522A>C	ENST00000262032.5	+	12	1532	c.1165A>C	c.(1165-1167)Acc>Ccc	p.T389P	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Missense_Mutation_p.T287P|IKZF4_ENST00000547791.1_Missense_Mutation_p.T344P|IKZF4_ENST00000547167.1_Missense_Mutation_p.T389P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	389					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTTCCACCCACCAATTGCAT	0.597																																						dbGAP											0													108.0	107.0	107.0					12																	56428522		2052	4220	6272	-	-	-	SO:0001583	missense	0			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1165A>C	12.37:g.56428522A>C	ENSP00000262032:p.Thr389Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JP3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T389P	ENST00000262032.5	37	c.1165	CCDS44917.1	12	.	.	.	.	.	.	.	.	.	.	A	0.048	-1.260846	0.01445	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.06294	3.35;3.32;3.35;3.34	4.61	3.49	0.39957	.	0.130000	0.35349	N	0.003275	T	0.02156	0.0067	N	0.01257	-0.925	0.38116	D	0.937722	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.49523	-0.8931	10	0.19590	T	0.45	-9.7872	9.6389	0.39826	0.911:0.0:0.089:0.0	.	287;344;348;389	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	P	389;287;389;344	ENSP00000262032:T389P;ENSP00000412101:T287P;ENSP00000448419:T389P;ENSP00000450020:T344P	ENSP00000262032:T389P	T	+	1	0	IKZF4	54714789	0.018000	0.18449	1.000000	0.80357	0.984000	0.73092	0.279000	0.18771	2.063000	0.61619	0.379000	0.24179	ACC	IKZF4	-	NULL	ENSG00000123411		0.597	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF4	HGNC	protein_coding	OTTHUMT00000407590.1	115	0.00	0	A	NM_022465		56428522	56428522	+1	no_errors	ENST00000262032	ensembl	human	known	69_37n	missense	225	17.22	47	SNP	0.973	C
IL17A	3605	genome.wustl.edu	37	6	52052584	52052584	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:52052584A>C	ENST00000340057.1	+	2	256	c.211A>C	c.(211-213)Acc>Ccc	p.T71P		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	71					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CAACCGATCCACCTCACCTTG	0.448																																						dbGAP											0													133.0	120.0	124.0					6																	52052584		2203	4300	6503	-	-	-	SO:0001583	missense	0			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.211A>C	6.37:g.52052584A>C	ENSP00000344192:p.Thr71Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2P0	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.T71P	ENST00000340057.1	37	c.211	CCDS4937.1	6	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984933	0.53934	.	.	ENSG00000112115	ENST00000340057	T	0.56776	0.44	5.7	4.54	0.55810	.	0.230177	0.36200	N	0.002721	T	0.53883	0.1824	M	0.62723	1.935	0.34433	D	0.698768	D	0.89917	1.0	D	0.81914	0.995	T	0.62081	-0.6929	10	0.59425	D	0.04	-34.5463	6.8675	0.24102	0.689:0.1688:0.0:0.1422	.	71	Q16552	IL17_HUMAN	P	71	ENSP00000344192:T71P	ENSP00000344192:T71P	T	+	1	0	IL17A	52160543	0.690000	0.27699	0.978000	0.43139	0.959000	0.62525	1.928000	0.40104	0.978000	0.38470	-0.309000	0.09137	ACC	IL17A	-	pfam_Interleukin-17	ENSG00000112115		0.448	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17A	HGNC	protein_coding	OTTHUMT00000040892.1	429	0.23	1	A	NM_002190		52052584	52052584	+1	no_errors	ENST00000340057	ensembl	human	known	69_37n	missense	298	17.17	62	SNP	0.967	C
IL17A	3605	genome.wustl.edu	37	6	52052589	52052589	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:52052589A>C	ENST00000340057.1	+	2	261	c.216A>C	c.(214-216)tcA>tcC	p.S72S		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	72					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GATCCACCTCACCTTGGAATC	0.438																																						dbGAP											0													126.0	115.0	119.0					6																	52052589		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.216A>C	6.37:g.52052589A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2P0	Silent	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.S72	ENST00000340057.1	37	c.216	CCDS4937.1	6																																																																																			IL17A	-	pfam_Interleukin-17,prints_Interleukin-17_chordata	ENSG00000112115		0.438	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17A	HGNC	protein_coding	OTTHUMT00000040892.1	427	0.47	2	A	NM_002190		52052589	52052589	+1	no_errors	ENST00000340057	ensembl	human	known	69_37n	silent	287	19.94	72	SNP	0.996	C
IL18BP	10068	genome.wustl.edu	37	11	71711525	71711525	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:71711525T>C	ENST00000393703.4	+	3	694	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P	IL18BP_ENST00000337131.5_Missense_Mutation_p.S53P|IL18BP_ENST00000531053.1_Missense_Mutation_p.S53P|IL18BP_ENST00000393705.4_Missense_Mutation_p.S53P|IL18BP_ENST00000404792.1_Missense_Mutation_p.S53P|IL18BP_ENST00000497194.2_Missense_Mutation_p.S53P|IL18BP_ENST00000393707.4_Missense_Mutation_p.S53P|IL18BP_ENST00000260049.5_Missense_Mutation_p.S53P	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	53					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCCTGCCCCTCCCAGCCCCC	0.602																																						dbGAP											0													75.0	86.0	82.0					11																	71711525		2082	4217	6299	-	-	-	SO:0001583	missense	0			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.157T>C	11.37:g.71711525T>C	ENSP00000377306:p.Ser53Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	pfscan_Ig-like	p.S53P	ENST00000393703.4	37	c.157	CCDS8206.2	11	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837604	0.32513	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049;ENST00000393707	T;T;T;T;T;T;T	0.34859	1.36;1.34;1.36;1.36;1.34;1.36;1.36	3.53	2.41	0.29592	.	0.655678	0.13526	N	0.381299	T	0.32971	0.0847	M	0.63428	1.95	0.09310	N	1	B;B;B	0.14805	0.009;0.011;0.004	B;B;B	0.17433	0.018;0.007;0.004	T	0.34030	-0.9845	10	0.66056	D	0.02	-4.7534	5.4363	0.16484	0.0:0.1278:0.0:0.8722	.	53;53;53	O95998-3;G3V1C5;O95998	.;.;I18BP_HUMAN	P	53	ENSP00000377306:S53P;ENSP00000434717:S53P;ENSP00000377308:S53P;ENSP00000338723:S53P;ENSP00000434835:S53P;ENSP00000384212:S53P;ENSP00000260049:S53P	ENSP00000260049:S53P	S	+	1	0	IL18BP	71389173	0.000000	0.05858	0.006000	0.13384	0.403000	0.30841	0.271000	0.18626	0.741000	0.32674	0.459000	0.35465	TCC	IL18BP	-	NULL	ENSG00000137496		0.602	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL18BP	HGNC	protein_coding	OTTHUMT00000258012.2	127	0.78	1	T	NM_173042		71711525	71711525	+1	no_errors	ENST00000260049	ensembl	human	known	69_37n	missense	140	12.50	20	SNP	0.006	C
IL1A	3552	genome.wustl.edu	37	2	113539285	113539285	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:113539285A>C	ENST00000263339.3	-	4	370	c.215T>G	c.(214-216)gTg>gGg	p.V72G		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	72					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TGCTACTACCACCATGCTCTC	0.483																																						dbGAP											0													196.0	177.0	184.0					2																	113539285		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.215T>G	2.37:g.113539285A>C	ENSP00000263339:p.Val72Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QF9|Q7RU02	Missense_Mutation	SNP	pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1	p.V72G	ENST00000263339.3	37	c.215	CCDS2101.1	2	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961614	0.53400	.	.	ENSG00000115008	ENST00000263339	T	0.53640	0.61	5.78	2.08	0.27032	Interleukin-1 propeptide (1);	0.565066	0.16067	N	0.231182	T	0.56062	0.1960	M	0.80183	2.485	0.09310	N	0.999994	P	0.45176	0.852	P	0.50825	0.651	T	0.49495	-0.8934	10	0.66056	D	0.02	-32.6097	5.9723	0.19359	0.597:0.0:0.403:0.0	.	72	P01583	IL1A_HUMAN	G	72	ENSP00000263339:V72G	ENSP00000263339:V72G	V	-	2	0	IL1A	113255756	0.011000	0.17503	0.002000	0.10522	0.014000	0.08584	1.188000	0.32102	0.547000	0.28938	0.533000	0.62120	GTG	IL1A	-	pfam_IL1_propep,prints_InterleukinIL1AB	ENSG00000115008		0.483	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	174	0.56	1	A	NM_000575		113539285	113539285	-1	no_errors	ENST00000263339	ensembl	human	known	69_37n	missense	187	11.27	24	SNP	0.002	C
IL1R2	7850	genome.wustl.edu	37	2	102632475	102632475	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:102632475A>C	ENST00000332549.3	+	4	704	c.475A>C	c.(475-477)Acc>Ccc	p.T159P	IL1R2_ENST00000441002.1_Missense_Mutation_p.T159P|IL1R2_ENST00000393414.2_Missense_Mutation_p.T159P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	159	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GAGTGAATTCACCCGTGACAA	0.383																																					Pancreas(106;189 1628 2302 5133 12295)	dbGAP											0													71.0	67.0	68.0					2																	102632475		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.475A>C	2.37:g.102632475A>C	ENSP00000330959:p.Thr159Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.T159P	ENST00000332549.3	37	c.475	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500379	0.64298	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.53	1.79	0.24919	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.819360	0.11373	N	0.570680	T	0.56963	0.2021	N	0.11673	0.155	0.09310	N	1	P	0.38597	0.639	B	0.36378	0.223	T	0.42749	-0.9433	10	0.34782	T	0.22	.	7.897	0.29712	0.7587:0.0:0.2413:0.0	.	159	P27930	IL1R2_HUMAN	P	159	ENSP00000330959:T159P;ENSP00000377066:T159P;ENSP00000408415:T159P;ENSP00000414611:T159P	ENSP00000330959:T159P	T	+	1	0	IL1R2	101998907	0.005000	0.15991	0.007000	0.13788	0.970000	0.65996	0.375000	0.20518	0.063000	0.16370	0.533000	0.62120	ACC	IL1R2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II	ENSG00000115590		0.383	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	106	0.00	0	A	NM_004633		102632475	102632475	+1	no_errors	ENST00000332549	ensembl	human	known	69_37n	missense	94	16.81	19	SNP	0.045	C
IL1RL1	9173	genome.wustl.edu	37	2	102959639	102959639	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:102959639T>G	ENST00000233954.1	+	7	1095		c.e7+2		IL1RL1_ENST00000409584.1_Splice_Site|IL1RL1_ENST00000311734.2_Splice_Site|IL1RL1_ENST00000404917.2_Splice_Site	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAATCAAAGGTATTTTTATAT	0.408																																						dbGAP											0													92.0	96.0	95.0					2																	102959639		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.824+2T>G	2.37:g.102959639T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Splice_Site	SNP	-	e6+2	ENST00000233954.1	37	c.824+2	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	t	12.01	1.809544	0.31961	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	.	.	.	5.19	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.922	0.24393	0.0:0.1043:0.0:0.8957	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RL1	102326071	1.000000	0.71417	0.975000	0.42487	0.421000	0.31385	0.951000	0.29135	1.009000	0.39289	0.477000	0.44152	.	IL1RL1	-	-	ENSG00000115602		0.408	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	405	0.73	3	T	NM_016232	Intron	102959639	102959639	+1	no_errors	ENST00000233954	ensembl	human	known	69_37n	splice_site	247	12.06	34	SNP	0.987	G
IL1F10	84639	genome.wustl.edu	37	2	113832338	113832338	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:113832338A>C	ENST00000393197.2	+	3	578	c.157A>C	c.(157-159)Acc>Ccc	p.T53P	IL1F10_ENST00000341010.2_Missense_Mutation_p.T53P|IL1F10_ENST00000337569.3_Missense_Mutation_p.T53P	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	53						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						CTTGGCCCGCACCAAGGTCCC	0.582																																						dbGAP											0													85.0	87.0	86.0					2																	113832338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.157A>C	2.37:g.113832338A>C	ENSP00000376893:p.Thr53Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1B	p.T53P	ENST00000393197.2	37	c.157	CCDS2112.1	2	.	.	.	.	.	.	.	.	.	.	A	16.47	3.132420	0.56828	.	.	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.09538	2.97;2.97;2.97	5.1	-4.19	0.03835	.	0.749345	0.13295	N	0.398702	T	0.10680	0.0261	L	0.51422	1.61	0.22803	N	0.998713	P;P	0.47677	0.899;0.771	P;B	0.48227	0.571;0.329	T	0.05131	-1.0904	10	0.49607	T	0.09	-24.5735	3.4625	0.07537	0.3531:0.0:0.2377:0.4092	.	53;53	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	P	53	ENSP00000341794:T53P;ENSP00000338418:T53P;ENSP00000376893:T53P	ENSP00000338418:T53P	T	+	1	0	IL1F10	113548809	0.015000	0.18098	0.743000	0.31040	0.829000	0.46940	0.090000	0.15025	-0.966000	0.03587	-0.256000	0.11100	ACC	IL1F10	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1	ENSG00000136697		0.582	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	IL1F10	HGNC	protein_coding	OTTHUMT00000330725.1	139	0.00	0	A	NM_173161		113832338	113832338	+1	no_errors	ENST00000337569	ensembl	human	known	69_37n	missense	94	14.41	16	SNP	0.679	C
IL21	59067	genome.wustl.edu	37	4	123536876	123536876	+	Silent	SNP	T	T	G	rs201703387		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:123536876T>G	ENST00000264497.3	-	3	378	c.321A>C	c.(319-321)ccA>ccC	p.P107P		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	100					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TTGTGGAAGGTGGTTTCCTCT	0.353																																						dbGAP											0													225.0	216.0	219.0					4																	123536876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.321A>C	4.37:g.123536876T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5J0L4	Silent	SNP	pfam_Interleukin_15-like	p.P107	ENST00000264497.3	37	c.321	CCDS3727.1	4																																																																																			IL21	-	pfam_Interleukin_15-like	ENSG00000138684		0.353	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21	HGNC	protein_coding	OTTHUMT00000256713.1	183	0.00	0	T	NM_021803		123536876	123536876	-1	no_errors	ENST00000264497	ensembl	human	known	69_37n	silent	110	18.98	26	SNP	0.424	G
IL6R	3570	genome.wustl.edu	37	1	154401795	154401795	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154401795A>C	ENST00000368485.3	+	2	646	c.209A>C	c.(208-210)cAc>cCc	p.H70P	IL6R_ENST00000344086.4_Missense_Mutation_p.H70P	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	70	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GCAGGCTCCCACCCCAGCAGA	0.642																																						dbGAP											0													44.0	45.0	45.0					1																	154401795		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.209A>C	1.37:g.154401795A>C	ENSP00000357470:p.His70Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H70P	ENST00000368485.3	37	c.209	CCDS1067.1	1	.	.	.	.	.	.	.	.	.	.	A	8.049	0.765638	0.15983	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.14766	2.48;2.83;2.83	4.63	-9.26	0.00662	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.350280	0.00559	N	0.000271	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19192	-1.0313	10	0.51188	T	0.08	-0.1148	1.235	0.01951	0.1981:0.3553:0.2331:0.2135	.	70;70	P08887-2;P08887	.;IL6RA_HUMAN	P	70	ENSP00000357470:H70P;ENSP00000340589:H70P;ENSP00000423184:H70P	ENSP00000340589:H70P	H	+	2	0	IL6R	152668419	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.619000	0.05572	-2.636000	0.00432	0.459000	0.35465	CAC	IL6R	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000160712		0.642	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	52	0.00	0	A	NM_000565		154401795	154401795	+1	no_errors	ENST00000368485	ensembl	human	known	69_37n	missense	52	29.33	22	SNP	0.000	C
ILK	3611	genome.wustl.edu	37	11	6631244	6631244	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6631244A>C	ENST00000396751.2	+	10	1512	c.1056A>C	c.(1054-1056)gcA>gcC	p.A352A	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Silent_p.A352A|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000420936.2_Silent_p.A352A|ILK_ENST00000537806.1_Silent_p.A218A|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000528995.1_Silent_p.A291A	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	352	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GCATGTATGCACCTGCCTGGG	0.507																																						dbGAP											0													96.0	97.0	96.0					11																	6631244		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1056A>C	11.37:g.6631244A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.A352	ENST00000396751.2	37	c.1056	CCDS7768.1	11																																																																																			ILK	-	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,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000166333		0.507	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	62	0.00	0	A	NM_004517		6631244	6631244	+1	no_errors	ENST00000299421	ensembl	human	known	69_37n	silent	51	20.00	13	SNP	0.959	C
ILKAP	80895	genome.wustl.edu	37	2	239079291	239079292	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:239079291_239079292CC>TT	ENST00000254654.3	-	12	1239_1240	c.1064_1065GG>AA	c.(1063-1065)gGG>gAA	p.G355E		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	355	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGCGGACTTCCCTTCCCGGGT	0.604																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1064_1065delinsTT	2.37:g.239079291_239079292delinsTT	ENSP00000254654:p.Gly355Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM39	Silent|Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.G355|p.G355E	ENST00000254654.3	37	c.1065|c.1064	CCDS2526.1	2																																																																																			ILKAP	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000132323		0.604	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	37|38	0.00	0	C	NM_030768		239079291|239079292	239079291|239079292	-1	no_errors	ENST00000254654	ensembl	human	known	69_37n	silent|missense	38|39	17.39|17.02	8	SNP	1.000	T
ILKAP	80895	genome.wustl.edu	37	2	239079514	239079514	+	Intron	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:239079514C>T	ENST00000254654.3	-	11	1214					NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase						protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		AATGGGGTCTCAGAACTTCTA	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1038+69G>A	2.37:g.239079514C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM39	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E187K	ENST00000254654.3	37	c.559	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	C	9.191	1.026108	0.19512	.	.	ENSG00000132323	ENST00000450411	T	0.45668	0.89	3.92	-1.02	0.10135	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29058	-1.0024	6	0.33141	T	0.24	.	4.9342	0.13932	0.5537:0.332:0.0:0.1142	.	.	.	.	K	187	ENSP00000406254:E187K	ENSP00000406254:E187K	E	-	1	0	ILKAP	238744253	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.267000	0.01170	-0.118000	0.11851	0.655000	0.94253	GAG	ILKAP	-	NULL	ENSG00000132323		0.507	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	105	0.00	0	C	NM_030768		239079514	239079514	-1	no_start_codon	ENST00000450411	ensembl	human	putative	69_37n	missense	81	13.83	13	SNP	0.000	T
ILKAP	80895	genome.wustl.edu	37	2	239079528	239079528	+	Intron	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:239079528C>T	ENST00000254654.3	-	11	1214					NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase						protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ACTTCTACTTCTCTGAAAACT	0.493																																						dbGAP											0													36.0	39.0	38.0					2																	239079528		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1038+55G>A	2.37:g.239079528C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM39	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R182K	ENST00000254654.3	37	c.545	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789062	0.16258	.	.	ENSG00000132323	ENST00000450411	T	0.42131	0.98	3.32	0.0975	0.14494	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25257	-1.0137	6	0.27785	T	0.31	.	4.3691	0.11239	0.0:0.5769:0.1834:0.2397	.	.	.	.	K	182	ENSP00000406254:R182K	ENSP00000406254:R182K	R	-	2	0	ILKAP	238744267	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.352000	0.07701	-0.054000	0.13266	0.655000	0.94253	AGA	ILKAP	-	NULL	ENSG00000132323		0.493	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	128	0.00	0	C	NM_030768		239079528	239079528	-1	no_start_codon	ENST00000450411	ensembl	human	putative	69_37n	missense	90	14.29	15	SNP	0.002	T
ILKAP	80895	genome.wustl.edu	37	2	239079558	239079558	+	Intron	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:239079558C>T	ENST00000254654.3	-	11	1214					NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase						protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGGGACAACCACCACCCCCG	0.493																																						dbGAP											0													116.0	128.0	124.0					2																	239079558		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1038+25G>A	2.37:g.239079558C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM39	Nonsense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.W172*	ENST00000254654.3	37	c.515	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	C	9.260	1.042937	0.19748	.	.	ENSG00000132323	ENST00000450411	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	3.5596	0.07877	0.0875:0.1679:0.3498:0.3947	.	.	.	.	X	172	.	ENSP00000406254:W172X	W	-	2	0	ILKAP	238744297	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.769000	0.00780	-2.573000	0.00466	-0.140000	0.14226	TGG	ILKAP	-	smart_PP2C-like	ENSG00000132323		0.493	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	149	0.00	0	C	NM_030768		239079558	239079558	-1	no_start_codon	ENST00000450411	ensembl	human	putative	69_37n	nonsense	131	13.82	21	SNP	0.000	T
ILKAP	80895	genome.wustl.edu	37	2	239098525	239098525	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:239098525A>C	ENST00000254654.3	-	4	442	c.267T>G	c.(265-267)agT>agG	p.S89R		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	89					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CAAGCTCTTCACTGCCATTCT	0.373																																						dbGAP											0													131.0	131.0	131.0					2																	239098525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.267T>G	2.37:g.239098525A>C	ENSP00000254654:p.Ser89Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM39	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S89R	ENST00000254654.3	37	c.267	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473908	0.43942	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.46063	1.93;0.88	5.85	-1.06	0.10002	Protein phosphatase 2C-like (1);	0.892455	0.10134	N	0.711759	T	0.18215	0.0437	N	0.03608	-0.345	0.31533	N	0.660919	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	10	0.46703	T	0.11	.	6.7353	0.23405	0.5346:0.1247:0.3407:0.0	.	89	Q9H0C8	ILKAP_HUMAN	R	89	ENSP00000254654:S89R;ENSP00000395301:S89R	ENSP00000254654:S89R	S	-	3	2	ILKAP	238763264	0.038000	0.19896	0.997000	0.53966	0.998000	0.95712	-0.262000	0.08682	-0.114000	0.11936	0.477000	0.44152	AGT	ILKAP	-	superfamily_PP2C-like	ENSG00000132323		0.373	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	85	0.00	0	A	NM_030768		239098525	239098525	-1	no_errors	ENST00000254654	ensembl	human	known	69_37n	missense	106	11.67	14	SNP	0.992	C
IMPA2	3613	genome.wustl.edu	37	18	12028879	12028879	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:12028879A>C	ENST00000269159.3	+	7	880	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RP11-703I16.1_ENST00000587619.1_RNA|IMPA2_ENST00000588927.1_Missense_Mutation_p.H24P|IMPA2_ENST00000589238.1_Missense_Mutation_p.H24P	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	213					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCACTCTGCCACCTGGCCTCA	0.612																																						dbGAP											0													93.0	89.0	91.0					18																	12028879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.638A>C	18.37:g.12028879A>C	ENSP00000269159:p.His213Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ29|Q9UJT3	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.H213P	ENST00000269159.3	37	c.638	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992098	0.54041	.	.	ENSG00000141401	ENST00000269159	T	0.51071	0.72	5.75	1.8	0.24995	.	0.235945	0.43110	D	0.000615	T	0.64702	0.2622	M	0.82323	2.585	0.44302	D	0.997174	P;B	0.45396	0.857;0.057	P;B	0.58928	0.848;0.319	T	0.64719	-0.6341	10	0.59425	D	0.04	-6.4478	10.7605	0.46261	0.6358:0.0:0.0:0.3642	.	186;213	O14732-2;O14732	.;IMPA2_HUMAN	P	213	ENSP00000269159:H213P	ENSP00000269159:H213P	H	+	2	0	IMPA2	12018879	0.999000	0.42202	0.997000	0.53966	0.882000	0.50991	1.859000	0.39418	0.056000	0.16144	0.533000	0.62120	CAC	IMPA2	-	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase	ENSG00000141401		0.612	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	71	0.00	0	A			12028879	12028879	+1	no_errors	ENST00000269159	ensembl	human	known	69_37n	missense	79	22.55	23	SNP	1.000	C
IMPG2	50939	genome.wustl.edu	37	3	100964821	100964821	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:100964821A>C	ENST00000193391.7	-	12	1555	c.1368T>G	c.(1366-1368)ggT>ggG	p.G456G		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	456					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACACTAAATCACCCAAAGGAC	0.493																																						dbGAP											0													107.0	113.0	111.0					3																	100964821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1368T>G	3.37:g.100964821A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.G456	ENST00000193391.7	37	c.1368	CCDS2940.1	3																																																																																			IMPG2	-	NULL	ENSG00000081148		0.493	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	258	0.00	0	A			100964821	100964821	-1	no_errors	ENST00000193391	ensembl	human	known	69_37n	silent	149	11.31	19	SNP	0.553	C
ING4	51147	genome.wustl.edu	37	12	6761496	6761496	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6761496T>G	ENST00000396807.4	-	6	627	c.589A>C	c.(589-591)Acc>Ccc	p.T197P	ING4_ENST00000446105.2_Missense_Mutation_p.T193P|ING4_ENST00000486287.1_Intron|ING4_ENST00000412586.2_Missense_Mutation_p.T194P|ING4_ENST00000444704.2_Missense_Mutation_p.T173P|ING4_ENST00000423703.2_Intron|ING4_ENST00000341550.4_Missense_Mutation_p.T196P	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	197					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						AGGCAATAGGTGGGTTCGTTG	0.527																																						dbGAP											0													195.0	165.0	175.0					12																	6761496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.589A>C	12.37:g.6761496T>G	ENSP00000380024:p.Thr197Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T197P	ENST00000396807.4	37	c.589	CCDS44813.1	12	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188090	0.78789	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000412586	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	4.9	4.9	0.64082	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.115517	0.64402	D	0.000017	D	0.91523	0.7323	M	0.74647	2.275	0.80722	D	1	D;P;D;D;P	0.62365	0.957;0.729;0.991;0.985;0.61	D;B;D;P;B	0.72625	0.937;0.264;0.978;0.864;0.205	D	0.92635	0.6119	10	0.87932	D	0	-4.3222	14.6988	0.69142	0.0:0.0:0.0:1.0	.	173;193;194;197;196	Q9UNL4-3;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;ING4_HUMAN;.	P	196;197;193;173;194	ENSP00000343396:T196P;ENSP00000380024:T197P;ENSP00000415903:T193P;ENSP00000397343:T173P;ENSP00000412705:T194P	ENSP00000343396:T196P	T	-	1	0	ING4	6631757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.064000	0.61679	0.459000	0.35465	ACC	ING4	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger	ENSG00000111653		0.527	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	HGNC	protein_coding	OTTHUMT00000280467.2	185	0.54	1	T	NM_198287		6761496	6761496	-1	no_errors	ENST00000396807	ensembl	human	known	69_37n	missense	194	14.16	32	SNP	1.000	G
INHA	3623	genome.wustl.edu	37	2	220440174	220440174	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:220440174A>C	ENST00000243786.2	+	2	1207	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	343					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGTCCGCACCACCTCGGATGG	0.602																																						dbGAP											0													135.0	141.0	139.0					2																	220440174		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.1027A>C	2.37:g.220440174A>C	ENSP00000243786:p.Thr343Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.T343P	ENST00000243786.2	37	c.1027	CCDS2444.1	2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407320	0.83230	.	.	ENSG00000123999	ENST00000243786	D	0.84370	-1.84	5.52	5.52	0.82312	Transforming growth factor-beta, C-terminal (3);	0.051844	0.85682	D	0.000000	D	0.92603	0.7650	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93097	0.6505	9	.	.	.	-30.4639	15.6485	0.77073	1.0:0.0:0.0:0.0	.	343	P05111	INHA_HUMAN	P	343	ENSP00000243786:T343P	.	T	+	1	0	INHA	220148418	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.285000	0.89914	2.091000	0.63221	0.533000	0.62120	ACC	INHA	-	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr	ENSG00000123999		0.602	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	HGNC	protein_coding	OTTHUMT00000131425.1	138	0.00	0	A			220440174	220440174	+1	no_errors	ENST00000243786	ensembl	human	known	69_37n	missense	86	16.50	17	SNP	1.000	C
INHBA	3624	genome.wustl.edu	37	7	41739809	41739809	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:41739809A>C	ENST00000242208.4	-	2	410	c.164T>G	c.(163-165)gTg>gGg	p.V55G	INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.V55G	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	55					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACGGCCTCCACCATCTCTGG	0.617										TSP Lung(11;0.080)																												dbGAP											0													201.0	215.0	210.0					7																	41739809		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.164T>G	7.37:g.41739809A>C	ENSP00000242208:p.Val55Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.V55G	ENST00000242208.4	37	c.164	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695055	0.68386	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.65178	-0.14;-0.14	5.49	4.32	0.51571	Transforming growth factor-beta, N-terminal (1);	0.066691	0.64402	N	0.000014	T	0.74658	0.3745	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76200	-0.3046	10	0.87932	D	0	-21.2377	12.6449	0.56729	0.8617:0.1383:0.0:0.0	.	55	P08476	INHBA_HUMAN	G	55	ENSP00000242208:V55G;ENSP00000397197:V55G	ENSP00000242208:V55G	V	-	2	0	INHBA	41706334	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.217000	0.95160	0.896000	0.36366	-0.316000	0.08728	GTG	INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.617	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	194	0.00	0	A			41739809	41739809	-1	no_errors	ENST00000242208	ensembl	human	known	69_37n	missense	188	11.63	25	SNP	1.000	C
INHBE	83729	genome.wustl.edu	37	12	57850426	57850426	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57850426A>C	ENST00000266646.2	+	2	1064	c.848A>C	c.(847-849)cAc>cCc	p.H283P	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	283					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGCCCTCCCCACCTGGCTGGC	0.587											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	dbGAP											0													86.0	71.0	76.0					12																	57850426		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.848A>C	12.37:g.57850426A>C	ENSP00000266646:p.His283Pro	Somatic	1026	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.H283P	ENST00000266646.2	37	c.848	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569142	0.65765	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.60672	0.17;0.17	4.79	4.79	0.61399	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	N	0.11560	0.145	0.80722	D	1	B	0.20887	0.049	B	0.24701	0.055	T	0.22977	-1.0201	10	0.25106	T	0.35	-15.028	13.7584	0.62950	1.0:0.0:0.0:0.0	.	283	P58166	INHBE_HUMAN	P	228;283	ENSP00000450212:H228P;ENSP00000266646:H283P	ENSP00000266646:H283P	H	+	2	0	INHBE	56136693	1.000000	0.71417	0.977000	0.42913	0.500000	0.33767	9.094000	0.94168	2.144000	0.66660	0.533000	0.62120	CAC	INHBE	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000139269		0.587	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	82	0.00	0	A	NM_031479		57850426	57850426	+1	no_errors	ENST00000266646	ensembl	human	known	69_37n	missense	51	26.09	18	SNP	1.000	C
INPP1	3628	genome.wustl.edu	37	2	191235676	191235676	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:191235676A>C	ENST00000322522.4	+	6	1204	c.748A>C	c.(748-750)Acc>Ccc	p.T250P	INPP1_ENST00000541441.1_Missense_Mutation_p.T250P|INPP1_ENST00000392329.2_Missense_Mutation_p.T250P	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	250					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			CACTGGAAACACCGGCTCTGA	0.483																																					Melanoma(130;184 1743 2185 19805 38428)	dbGAP											0													161.0	162.0	162.0					2																	191235676		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.748A>C	2.37:g.191235676A>C	ENSP00000325423:p.Thr250Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.T250P	ENST00000322522.4	37	c.748	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	A	10.42	1.346132	0.24426	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.34072	1.38;1.38;1.38	4.97	-6.63	0.01807	.	1.153190	0.06009	N	0.649225	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15954	-1.0419	10	0.30078	T	0.28	-0.0017	2.7151	0.05185	0.2892:0.2366:0.3662:0.108	.	250	P49441	INPP_HUMAN	P	250	ENSP00000376142:T250P;ENSP00000325423:T250P;ENSP00000440650:T250P	ENSP00000325423:T250P	T	+	1	0	INPP1	190943921	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.764000	0.04735	-1.081000	0.03105	0.369000	0.22263	ACC	INPP1	-	pfam_Inositol_monophosphatase	ENSG00000151689		0.483	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	346	0.86	3	A			191235676	191235676	+1	no_errors	ENST00000322522	ensembl	human	known	69_37n	missense	365	10.10	41	SNP	0.000	C
INPPL1	3636	genome.wustl.edu	37	11	71946992	71946992	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:71946992A>C	ENST00000298229.2	+	25	3045	c.2841A>C	c.(2839-2841)ccA>ccC	p.P947P	INPPL1_ENST00000538751.1_Silent_p.P705P|INPPL1_ENST00000541756.1_Silent_p.P705P	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	947	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCCCAGCCCCACCCCGAGCAG	0.662																																						dbGAP											0													15.0	19.0	18.0					11																	71946992		2176	4254	6430	-	-	-	SO:0001819	synonymous_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2841A>C	11.37:g.71946992A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.P947	ENST00000298229.2	37	c.2841	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.662	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	25	0.00	0	A	NM_001567		71946992	71946992	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	0.977	C
INSIG2	51141	genome.wustl.edu	37	2	118854309	118854309	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:118854309A>C	ENST00000245787.4	+	2	383	c.177A>C	c.(175-177)ccA>ccC	p.P59P	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	59					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CGCTCTTTCCACCTGATGTGA	0.403																																						dbGAP											0													176.0	159.0	165.0					2																	118854309		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.177A>C	2.37:g.118854309A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W8|Q8TBI8	Silent	SNP	pfam_INSIG_fam	p.P59	ENST00000245787.4	37	c.177	CCDS2122.1	2																																																																																			INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.403	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	439	0.00	0	A	NM_016133		118854309	118854309	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	silent	296	10.71	36	SNP	0.998	C
INTS3	65123	genome.wustl.edu	37	1	153737515	153737515	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:153737515A>C	ENST00000318967.2	+	20	2634	c.2066A>C	c.(2065-2067)cAc>cCc	p.H689P	INTS3_ENST00000512605.1_Missense_Mutation_p.H483P|INTS3_ENST00000456435.1_Missense_Mutation_p.H483P|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.H689P	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	690					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTGGCTACCACCTGCTCTAC	0.527																																						dbGAP											0													221.0	213.0	216.0					1																	153737515		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2066A>C	1.37:g.153737515A>C	ENSP00000318641:p.His689Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Integrator_3	p.H689P	ENST00000318967.2	37	c.2066	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241493	0.79912	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	L	0.48642	1.525	0.58432	D	0.999993	D;D;D	0.69078	0.997;0.98;0.988	D;D;D	0.80764	0.994;0.924;0.965	T	0.64757	-0.6332	9	0.62326	D	0.03	.	10.8551	0.46794	1.0:0.0:0.0:0.0	.	483;690;689	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	P	689;483;689;483	.	ENSP00000318641:H689P	H	+	2	0	INTS3	152004139	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.352000	0.90075	2.054000	0.61138	0.460000	0.39030	CAC	INTS3	-	NULL	ENSG00000143624		0.527	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	277	0.00	0	A	NM_023015		153737515	153737515	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	missense	390	14.22	65	SNP	1.000	C
INTS5	80789	genome.wustl.edu	37	11	62414522	62414522	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62414522T>G	ENST00000330574.2	-	2	3082	c.3030A>C	c.(3028-3030)tcA>tcC	p.S1010S	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	1010					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAGTGGACGGTGAAGGTGCCT	0.597																																						dbGAP											0													82.0	69.0	73.0					11																	62414522		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.3030A>C	11.37:g.62414522T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W5|Q9C0G5	Silent	SNP	NULL	p.S1010	ENST00000330574.2	37	c.3030	CCDS8027.1	11																																																																																			INTS5	-	NULL	ENSG00000185085		0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	66	0.00	0	T	NM_030628		62414522	62414522	-1	no_errors	ENST00000330574	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	0.411	G
INTS6	26512	genome.wustl.edu	37	13	51948402	51948402	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:51948402T>G	ENST00000311234.4	-	15	2518	c.2046A>C	c.(2044-2046)ccA>ccC	p.P682P	INTS6_ENST00000425000.1_Silent_p.P250P|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Silent_p.P669P|INTS6_ENST00000497989.1_Silent_p.P504P|INTS6_ENST00000490542.1_Silent_p.P366P	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	682					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TAGGTGCAGGTGGTCCTTTTC	0.398																																						dbGAP											0													186.0	174.0	178.0					13																	51948402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2046A>C	13.37:g.51948402T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	pfam_VWF_A,pfscan_VWF_A	p.P682	ENST00000311234.4	37	c.2046	CCDS9428.1	13																																																																																			INTS6	-	NULL	ENSG00000102786		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	267	0.37	1	T	NM_012141		51948402	51948402	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	silent	214	17.05	44	SNP	1.000	G
INTS9	55756	genome.wustl.edu	37	8	28671028	28671028	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:28671028A>C	ENST00000521022.1	-	7	671	c.590T>G	c.(589-591)gTg>gGg	p.V197G	INTS9_ENST00000397363.4_Missense_Mutation_p.V91G|INTS9_ENST00000416984.2_Missense_Mutation_p.V176G|INTS9_ENST00000521777.1_Missense_Mutation_p.V173G	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	197					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGAATATCCCACCAGCTGGAT	0.383																																						dbGAP											0													147.0	142.0	144.0					8																	28671028		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.590T>G	8.37:g.28671028A>C	ENSP00000429065:p.Val197Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	pfam_Beta_Casp	p.V197G	ENST00000521022.1	37	c.590	CCDS34873.1	8	.	.	.	.	.	.	.	.	.	.	A	23.1	4.381191	0.82792	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.56611	0.46;0.46;0.45;0.47;0.75	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.79693	2.465	0.80722	D	1	D;D;D	0.67145	0.968;0.996;0.994	P;D;P	0.68483	0.825;0.958;0.862	T	0.77643	-0.2511	10	0.87932	D	0	-24.8789	16.2316	0.82347	1.0:0.0:0.0:0.0	.	176;197;197	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	G	197;176;41;173;91;197	ENSP00000429065:V197G;ENSP00000398208:V176G;ENSP00000430943:V173G;ENSP00000380520:V91G;ENSP00000427789:V197G	ENSP00000380520:V91G	V	-	2	0	INTS9	28726947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.826000	0.92034	2.308000	0.77769	0.533000	0.62120	GTG	INTS9	-	NULL	ENSG00000104299		0.383	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	HGNC	protein_coding	OTTHUMT00000376846.1	325	0.61	2	A	NM_018250		28671028	28671028	-1	no_errors	ENST00000521022	ensembl	human	known	69_37n	missense	365	12.97	55	SNP	1.000	C
IQCF3	401067	genome.wustl.edu	37	3	51864453	51864453	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:51864453T>G	ENST00000456080.1	+	8	1266	c.101T>G	c.(100-102)gTg>gGg	p.V34G	IQCF3_ENST00000437810.2_Missense_Mutation_p.V34G|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Missense_Mutation_p.V34G|IQCF3_ENST00000446775.1_Missense_Mutation_p.V34G			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	34										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAAAAGGGTGAAGGCAGCT	0.567																																						dbGAP											0													58.0	64.0	62.0					3																	51864453		2135	4253	6388	-	-	-	SO:0001583	missense	0			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.101T>G	3.37:g.51864453T>G	ENSP00000415609:p.Val34Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUV0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.V34G	ENST00000456080.1	37	c.101	CCDS46837.1	3	.	.	.	.	.	.	.	.	.	.	T	8.717	0.913541	0.17907	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.41	-8.82	0.00810	.	.	.	.	.	T	0.12475	0.0303	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18335	-1.0340	9	0.23302	T	0.38	.	2.7026	0.05153	0.2266:0.4299:0.1508:0.1926	.	34	P0C7M6	IQCF3_HUMAN	G	34	ENSP00000415609:V34G;ENSP00000409373:V34G;ENSP00000401767:V34G;ENSP00000402012:V34G	ENSP00000409373:V34G	V	+	2	0	IQCF3	51839493	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-2.187000	0.01250	-2.186000	0.00760	0.533000	0.62120	GTG	IQCF3	-	smart_IQ_motif_EF-hand-BS	ENSG00000229972		0.567	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF3	HGNC	protein_coding	OTTHUMT00000346579.2	80	0.00	0	T	NM_001085479		51864453	51864453	+1	no_errors	ENST00000437810	ensembl	human	known	69_37n	missense	104	14.75	18	SNP	0.000	G
IQSEC2	23096	genome.wustl.edu	37	X	53280313	53280313	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:53280313T>G	ENST00000375368.5	-	4	1615	c.1415A>C	c.(1414-1416)cAc>cCc	p.H472P	IQSEC2_ENST00000396435.3_Missense_Mutation_p.H482P|IQSEC2_ENST00000375365.2_Missense_Mutation_p.H277P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	472					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCCTGACGGGTGGCAGTTCAG	0.557																																						dbGAP											0													48.0	50.0	49.0					X																	53280313		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1415A>C	X.37:g.53280313T>G	ENSP00000364517:p.His472Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.H482P	ENST00000375368.5	37	c.1445		X	.	.	.	.	.	.	.	.	.	.	t	14.34	2.504791	0.44558	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.46451	0.87;0.87;0.87	5.18	5.18	0.71444	.	0.531661	0.13717	U	0.367697	T	0.33381	0.0861	L	0.29908	0.895	0.35498	D	0.799565	P;P	0.49447	0.924;0.924	B;B	0.44044	0.439;0.439	T	0.40232	-0.9574	10	0.45353	T	0.12	.	7.9313	0.29904	0.0:0.0955:0.0:0.9045	.	482;277	Q5JU85-2;Q5JU85-3	.;.	P	482;472;277	ENSP00000379712:H482P;ENSP00000364517:H472P;ENSP00000364514:H277P	ENSP00000364514:H277P	H	-	2	0	IQSEC2	53297038	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.481000	0.60250	1.719000	0.51432	0.483000	0.47432	CAC	IQSEC2	-	NULL	ENSG00000124313		0.557	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		135	0.74	1	T	XM_291345		53280313	53280313	-1	no_errors	ENST00000396435	ensembl	human	known	69_37n	missense	106	10.08	12	SNP	1.000	G
IRAK2	3656	genome.wustl.edu	37	3	10280615	10280615	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:10280615A>C	ENST00000256458.4	+	12	1747	c.1657A>C	c.(1657-1659)Acc>Ccc	p.T553P		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	553					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGGGGCTGCCACCCCACTTCT	0.612																																						dbGAP											0													60.0	57.0	58.0					3																	10280615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1657A>C	3.37:g.10280615A>C	ENSP00000256458:p.Thr553Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T553P	ENST00000256458.4	37	c.1657	CCDS33697.1	3	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857777	0.32791	.	.	ENSG00000134070	ENST00000256458	T	0.51817	0.69	5.02	-4.6	0.03390	.	0.982100	0.08302	N	0.966683	T	0.24044	0.0582	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.15052	0.012	T	0.16512	-1.0400	10	0.37606	T	0.19	-2.9188	6.087	0.19973	0.1875:0.0:0.3012:0.5113	.	553	O43187	IRAK2_HUMAN	P	553	ENSP00000256458:T553P	ENSP00000256458:T553P	T	+	1	0	IRAK2	10255615	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	-0.630000	0.05567	-0.313000	0.08912	ACC	IRAK2	-	NULL	ENSG00000134070		0.612	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	65	0.00	0	A			10280615	10280615	+1	no_errors	ENST00000256458	ensembl	human	known	69_37n	missense	82	23.36	25	SNP	0.000	C
IRS4	8471	genome.wustl.edu	37	X	107977787	107977787	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107977787A>C	ENST00000372129.2	-	1	1864	c.1788T>G	c.(1786-1788)agT>agG	p.S596R	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	596					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATCCTTTCCCACTTCCTGAGC	0.537																																						dbGAP											0													200.0	200.0	200.0					X																	107977787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1788T>G	X.37:g.107977787A>C	ENSP00000361202:p.Ser596Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.S596R	ENST00000372129.2	37	c.1788	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	A	6.236	0.411589	0.11812	.	.	ENSG00000133124	ENST00000372129	T	0.36878	1.23	4.6	4.6	0.57074	.	0.293602	0.24917	N	0.034579	T	0.29061	0.0722	L	0.47716	1.5	0.20307	N	0.999918	B	0.10296	0.003	B	0.12156	0.007	T	0.13629	-1.0502	10	0.21540	T	0.41	-3.3324	9.3524	0.38147	1.0:0.0:0.0:0.0	.	596	O14654	IRS4_HUMAN	R	596	ENSP00000361202:S596R	ENSP00000361202:S596R	S	-	3	2	IRS4	107864443	0.999000	0.42202	1.000000	0.80357	0.430000	0.31655	2.392000	0.44433	1.807000	0.52817	0.486000	0.48141	AGT	IRS4	-	NULL	ENSG00000133124		0.537	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	214	0.00	0	A	NM_003604		107977787	107977787	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	missense	133	13.07	20	SNP	1.000	C
IRS4	8471	genome.wustl.edu	37	X	107977913	107977913	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107977913A>C	ENST00000372129.2	-	1	1738	c.1662T>G	c.(1660-1662)ggT>ggG	p.G554G	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	554					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AACCGTGCCCACCTGCGGTGC	0.637																																						dbGAP											0													118.0	120.0	119.0					X																	107977913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1662T>G	X.37:g.107977913A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G554	ENST00000372129.2	37	c.1662	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	166	0.60	1	A	NM_003604		107977913	107977913	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	silent	84	19.23	20	SNP	0.994	C
IRS4	8471	genome.wustl.edu	37	X	107978066	107978066	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107978066A>C	ENST00000372129.2	-	1	1585	c.1509T>G	c.(1507-1509)ggT>ggG	p.G503G	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	503					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCCCTGGCCACCTCCTGAGC	0.582																																						dbGAP											0													116.0	112.0	113.0					X																	107978066		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1509T>G	X.37:g.107978066A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G503	ENST00000372129.2	37	c.1509	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.582	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	149	0.67	1	A	NM_003604		107978066	107978066	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	silent	50	28.57	20	SNP	1.000	C
ISX	91464	genome.wustl.edu	37	22	35481649	35481649	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:35481649A>C	ENST00000308700.6	+	4	1653	c.701A>C	c.(700-702)cAc>cCc	p.H234P	ISX_ENST00000404699.2_Missense_Mutation_p.H234P	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	234					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCACCTCCACACCCCAAATGG	0.542																																						dbGAP											0													182.0	123.0	143.0					22																	35481649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.701A>C	22.37:g.35481649A>C	ENSP00000311492:p.His234Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DJ5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H234P	ENST00000308700.6	37	c.701	CCDS33640.1	22	.	.	.	.	.	.	.	.	.	.	A	6.984	0.551711	0.13374	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.89196	-2.48;-2.48	5.14	4.08	0.47627	.	0.405345	0.21001	N	0.081862	D	0.84174	0.5414	L	0.50333	1.59	0.09310	N	0.999998	B	0.17038	0.02	B	0.17433	0.018	T	0.71636	-0.4533	10	0.33940	T	0.23	.	8.8717	0.35320	0.8106:0.1894:0.0:0.0	.	234	Q2M1V0	ISX_HUMAN	P	234	ENSP00000311492:H234P;ENSP00000386037:H234P	ENSP00000311492:H234P	H	+	2	0	ISX	33811649	0.067000	0.21026	0.119000	0.21687	0.226000	0.24999	2.480000	0.45206	0.762000	0.33152	0.533000	0.62120	CAC	ISX	-	NULL	ENSG00000175329		0.542	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1	188	0.52	1	A	NM_001008494		35481649	35481649	+1	no_errors	ENST00000308700	ensembl	human	known	69_37n	missense	151	22.05	43	SNP	0.429	C
ITFG3	83986	genome.wustl.edu	37	16	309556	309556	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:309556A>C	ENST00000399932.3	+	4	794	c.343A>C	c.(343-345)Acc>Ccc	p.T115P	ITFG3_ENST00000301678.3_Missense_Mutation_p.T115P|ITFG3_ENST00000600536.1_Missense_Mutation_p.T115P|ITFG3_ENST00000442458.2_Missense_Mutation_p.T115P|ITFG3_ENST00000301679.2_Missense_Mutation_p.T115P|ITFG3_ENST00000450082.2_Missense_Mutation_p.T115P	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	115						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TTATAAAAACACCAACAGCAG	0.393																																						dbGAP											0													141.0	144.0	143.0					16																	309556		1860	4097	5957	-	-	-	SO:0001583	missense	0			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.343A>C	16.37:g.309556A>C	ENSP00000382814:p.Thr115Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.T115P	ENST00000399932.3	37	c.343	CCDS10402.1	16	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716713	0.30413	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000438220;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.35	-3.73	0.04398	Quinonprotein alcohol dehydrogenase-like (1);	0.816077	0.11461	N	0.561764	T	0.48021	0.1477	M	0.65975	2.015	0.09310	N	1	D;D	0.53151	0.958;0.958	P;P	0.47981	0.563;0.563	T	0.44097	-0.9350	10	0.30854	T	0.27	-13.7062	5.6128	0.17414	0.3504:0.0:0.4198:0.2298	.	115;115	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	P	115	ENSP00000382814:T115P;ENSP00000301679:T115P;ENSP00000399150:T115P;ENSP00000397477:T115P;ENSP00000407669:T115P;ENSP00000398433:T115P;ENSP00000301678:T115P;ENSP00000411394:T115P	ENSP00000301678:T115P	T	+	1	0	ITFG3	249557	0.000000	0.05858	0.002000	0.10522	0.305000	0.27757	-0.083000	0.11286	-0.557000	0.06126	0.533000	0.62120	ACC	ITFG3	-	superfamily_Quinonprotein_ADH-like	ENSG00000167930		0.393	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	108	0.00	0	A	NM_032039		309556	309556	+1	no_errors	ENST00000301678	ensembl	human	known	69_37n	missense	74	20.43	19	SNP	0.000	C
ITGA10	8515	genome.wustl.edu	37	1	145537756	145537756	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:145537756T>G	ENST00000369304.3	+	21	2769	c.2594T>G	c.(2593-2595)gTg>gGg	p.V865G	ITGA10_ENST00000538811.1_Missense_Mutation_p.V734G|ITGA10_ENST00000539363.1_Missense_Mutation_p.V722G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	865					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAATAAAGGTGGAATGTGCC	0.577																																						dbGAP											0													62.0	66.0	65.0					1																	145537756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2594T>G	1.37:g.145537756T>G	ENSP00000358310:p.Val865Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V865G	ENST00000369304.3	37	c.2594	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728246	0.48833	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.48201	0.82;0.82;0.82	5.71	4.59	0.56863	Integrin alpha-2 (1);	0.438574	0.23935	N	0.043119	T	0.30039	0.0752	L	0.34521	1.04	0.58432	D	0.999998	P;P;P;B	0.41673	0.584;0.584;0.759;0.408	B;B;B;P	0.46975	0.419;0.322;0.38;0.533	T	0.19811	-1.0294	10	0.87932	D	0	.	9.652	0.39904	0.0:0.0823:0.0:0.9177	.	831;734;722;865	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	G	865;831;722;734	ENSP00000358310:V865G;ENSP00000439894:V722G;ENSP00000440011:V734G	ENSP00000358310:V865G	V	+	2	0	ITGA10	144249113	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.637000	0.74304	1.005000	0.39183	0.533000	0.62120	GTG	ITGA10	-	pfam_Integrin_alpha-2	ENSG00000143127		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	168	0.00	0	T	NM_003637		145537756	145537756	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	missense	199	17.70	43	SNP	1.000	G
ITGA10	8515	genome.wustl.edu	37	1	145538292	145538292	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:145538292A>C	ENST00000369304.3	+	23	2994	c.2819A>C	c.(2818-2820)cAc>cCc	p.H940P	ITGA10_ENST00000538811.1_Missense_Mutation_p.H809P|ITGA10_ENST00000539363.1_Missense_Mutation_p.H797P	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	940					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TATGAGCCCCACCTCCTGTTC	0.552																																						dbGAP											0													154.0	125.0	135.0					1																	145538292		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2819A>C	1.37:g.145538292A>C	ENSP00000358310:p.His940Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H940P	ENST00000369304.3	37	c.2819	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	7.029	0.560327	0.13498	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.44482	0.92;0.92;0.92	5.8	4.67	0.58626	Integrin alpha-2 (1);	0.287888	0.33110	N	0.005279	T	0.15522	0.0374	L	0.29908	0.895	0.35683	D	0.814267	B;B;P;B	0.37122	0.253;0.253;0.583;0.143	B;B;B;B	0.36808	0.225;0.15;0.13;0.233	T	0.05566	-1.0877	10	0.41790	T	0.15	.	8.7304	0.34496	0.9141:0.0:0.0859:0.0	.	906;809;797;940	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	P	940;906;797;809	ENSP00000358310:H940P;ENSP00000439894:H797P;ENSP00000440011:H809P	ENSP00000358310:H940P	H	+	2	0	ITGA10	144249649	1.000000	0.71417	0.824000	0.32777	0.063000	0.16089	4.676000	0.61627	1.024000	0.39682	0.533000	0.62120	CAC	ITGA10	-	pfam_Integrin_alpha-2	ENSG00000143127		0.552	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	224	0.88	2	A	NM_003637		145538292	145538292	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	missense	296	14.86	52	SNP	0.850	C
ITGA4	3676	genome.wustl.edu	37	2	182374434	182374434	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:182374434A>C	ENST00000397033.2	+	16	2175	c.1745A>C	c.(1744-1746)cAc>cCc	p.H582P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	582					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCTGCTTACCACCTTGGTCCT	0.388																																						dbGAP											0													129.0	114.0	119.0					2																	182374434		1876	4107	5983	-	-	-	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1745A>C	2.37:g.182374434A>C	ENSP00000380227:p.His582Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.H582P	ENST00000397033.2	37	c.1745	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	A	10.44	1.349641	0.24426	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.44881	0.91;0.91	6.02	2.22	0.28083	Integrin alpha-2 (1);	0.479888	0.26939	N	0.021727	T	0.33990	0.0882	L	0.54323	1.7	0.38379	D	0.945098	B;B	0.34349	0.243;0.45	B;B	0.35278	0.199;0.199	T	0.11060	-1.0603	10	0.41790	T	0.15	.	5.7637	0.18215	0.6528:0.1304:0.2167:0.0	.	404;582	Q59H74;P13612	.;ITA4_HUMAN	P	582	ENSP00000380227:H582P;ENSP00000233573:H582P	ENSP00000233573:H582P	H	+	2	0	ITGA4	182082679	0.986000	0.35501	1.000000	0.80357	0.398000	0.30690	1.076000	0.30729	0.133000	0.18654	0.528000	0.53228	CAC	ITGA4	-	pfam_Integrin_alpha-2,prints_Integrin_alpha	ENSG00000115232		0.388	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	212	0.47	1	A			182374434	182374434	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	missense	154	12.50	22	SNP	1.000	C
ITGA7	3679	genome.wustl.edu	37	12	56091782	56091782	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56091782A>C	ENST00000555728.1	-	9	1381	c.1353T>G	c.(1351-1353)ggT>ggG	p.G451G	ITGA7_ENST00000257880.7_Silent_p.G451G|ITGA7_ENST00000452168.2_Silent_p.G314G|ITGA7_ENST00000394229.2_Silent_p.G407G|ITGA7_ENST00000553804.1_Silent_p.G411G|ITGA7_ENST00000394230.2_Silent_p.G411G|ITGA7_ENST00000257879.6_Silent_p.G407G|ITGA7_ENST00000347027.6_Silent_p.G407G			Q13683	ITA7_HUMAN	integrin, alpha 7	451					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTTCCCATCACCATCAAAGG	0.597																																						dbGAP											0													129.0	126.0	127.0					12																	56091782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1353T>G	12.37:g.56091782A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G451	ENST00000555728.1	37	c.1353		12																																																																																			ITGA7	-	pfam_FG-GAP,smart_Int_alpha_beta-p	ENSG00000135424		0.597	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	252	0.00	0	A	NM_002206		56091782	56091782	-1	no_errors	ENST00000555728	ensembl	human	known	69_37n	silent	196	16.74	40	SNP	0.425	C
ITGAV	3685	genome.wustl.edu	37	2	187511546	187511546	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:187511546A>C	ENST00000261023.3	+	13	1567	c.1293A>C	c.(1291-1293)ccA>ccC	p.P431P	ITGAV_ENST00000433736.2_Silent_p.P385P|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.P395P	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	431					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GAAGCATGCCACCAAGCTTTG	0.413																																					Melanoma(58;108 1995 6081)	dbGAP											0													52.0	52.0	52.0					2																	187511546		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1293A>C	2.37:g.187511546A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P431	ENST00000261023.3	37	c.1293	CCDS2292.1	2																																																																																			ITGAV	-	smart_Int_alpha_beta-p	ENSG00000138448		0.413	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	162	0.00	0	A	NM_002210		187511546	187511546	+1	no_errors	ENST00000261023	ensembl	human	known	69_37n	silent	89	16.82	18	SNP	0.529	C
ITGB1	3688	genome.wustl.edu	37	10	33212631	33212631	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:33212631A>C	ENST00000396033.2	-	7	959	c.824T>G	c.(823-825)gTg>gGg	p.V275G	ITGB1_ENST00000423113.1_Missense_Mutation_p.V275G|ITGB1_ENST00000302278.3_Missense_Mutation_p.V275G|ITGB1_ENST00000374956.4_Missense_Mutation_p.V275G|ITGB1_ENST00000484088.1_5'Flank	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	275	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGTGGAAAACACCAGCAGCCG	0.383																																						dbGAP											0													53.0	49.0	51.0					10																	33212631		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.824T>G	10.37:g.33212631A>C	ENSP00000379350:p.Val275Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.V275G	ENST00000396033.2	37	c.824	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410588	0.83340	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.57	4.39	0.52855	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.992;0.999	D	0.98338	1.0537	10	0.87932	D	0	.	12.8156	0.57663	0.864:0.136:0.0:0.0	.	275;275;275;275;275	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	G	275	ENSP00000379350:V275G;ENSP00000388694:V275G;ENSP00000303351:V275G;ENSP00000364094:V275G	ENSP00000303351:V275G	V	-	2	0	ITGB1	33252637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.134000	0.65973	0.533000	0.62120	GTG	ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000150093		0.383	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	92	0.00	0	A	NM_002211		33212631	33212631	-1	no_errors	ENST00000374956	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	1.000	C
ITGB3	3690	genome.wustl.edu	37	17	45362032	45362032	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45362032A>C	ENST00000559488.1	+	4	601	c.585A>C	c.(583-585)ccA>ccC	p.P195P	ITGB3_ENST00000571680.1_Silent_p.P195P|ITGB3_ENST00000560629.1_Missense_Mutation_p.T184P|ITGB3_ENST00000435993.2_Silent_p.P148P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	195	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ATATCTCCCCACCAGAGGCCC	0.557																																						dbGAP											0													130.0	138.0	135.0					17																	45362032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.585A>C	17.37:g.45362032A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.P195	ENST00000559488.1	37	c.585	CCDS11511.1	17																																																																																			ITGB3	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000259207		0.557	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	217	0.46	1	A	NM_000212		45362032	45362032	+1	no_errors	ENST00000262017	ensembl	human	known	69_37n	silent	284	12.84	42	SNP	0.983	C
ITGBL1	9358	genome.wustl.edu	37	13	102227836	102227836	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:102227836T>G	ENST00000376180.3	+	4	744	c.525T>G	c.(523-525)ggT>ggG	p.G175G	ITGBL1_ENST00000376162.3_Silent_p.G82G|ITGBL1_ENST00000545560.2_Silent_p.G34G	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	175	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTGTATGGTAAATTTTGTG	0.358																																						dbGAP											0													273.0	250.0	258.0					13																	102227836		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.525T>G	13.37:g.102227836T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	pfam_EGF_extracell,smart_EGF-like	p.G175	ENST00000376180.3	37	c.525	CCDS9499.1	13																																																																																			ITGBL1	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000198542		0.358	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	260	0.38	1	T	NM_004791		102227836	102227836	+1	no_errors	ENST00000376180	ensembl	human	known	69_37n	silent	214	13.71	34	SNP	0.998	G
ITGBL1	9358	genome.wustl.edu	37	13	102345100	102345100	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:102345100A>C	ENST00000376180.3	+	8	1351				ITGBL1_ENST00000376162.3_Intron|ITGBL1_ENST00000545560.2_Intron	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)						cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACTTGCTTTACCTGCCTTTG	0.393																																						dbGAP											0													165.0	135.0	145.0					13																	102345100		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1132+49A>C	13.37:g.102345100A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	RNA	SNP	-	NULL	ENST00000376180.3	37	NULL	CCDS9499.1	13																																																																																			ITGBL1	-	-	ENSG00000198542		0.393	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	194	0.51	1	A	NM_004791		102345100	102345100	+1	no_errors	ENST00000474233	ensembl	human	known	69_37n	rna	111	17.04	23	SNP	0.000	C
ITLN2	142683	genome.wustl.edu	37	1	160921010	160921010	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:160921010A>C	ENST00000368029.3	-	4	321	c.264T>G	c.(262-264)ggT>ggG	p.G88G	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	88	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAGCCGCCACCCCCAGAAG	0.577																																						dbGAP											0													81.0	75.0	77.0					1																	160921010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.264T>G	1.37:g.160921010A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RR2|Q5VYI0	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C	p.G88	ENST00000368029.3	37	c.264	CCDS1212.1	1																																																																																			ITLN2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C	ENSG00000158764		0.577	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN2	HGNC	protein_coding	OTTHUMT00000071465.1	69	0.00	0	A	NM_080878		160921010	160921010	-1	no_errors	ENST00000368029	ensembl	human	known	69_37n	silent	122	19.21	29	SNP	0.993	C
ITPR2	3709	genome.wustl.edu	37	12	26749941	26749941	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:26749941T>G	ENST00000381340.3	-	31	4545	c.4129A>C	c.(4129-4131)Acc>Ccc	p.T1377P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1377					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCCACCAGGGTGATGTGGTAG	0.483																																						dbGAP											0													106.0	107.0	107.0					12																	26749941		2010	4170	6180	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4129A>C	12.37:g.26749941T>G	ENSP00000370744:p.Thr1377Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1377P	ENST00000381340.3	37	c.4129	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098369	0.37048	.	.	ENSG00000123104	ENST00000381340	D	0.91521	-2.86	4.44	3.2	0.36748	.	0.215061	0.47852	D	0.000214	T	0.81828	0.4905	N	0.19112	0.55	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.77627	-0.2517	10	0.36615	T	0.2	.	10.7758	0.46348	0.0:0.0:0.2696:0.7304	.	1377	Q14571	ITPR2_HUMAN	P	1377	ENSP00000370744:T1377P	ENSP00000370744:T1377P	T	-	1	0	ITPR2	26641208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.118000	0.50414	1.975000	0.57531	0.528000	0.53228	ACC	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.483	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	297	0.66	2	T	NM_002223		26749941	26749941	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	229	18.15	51	SNP	1.000	G
ITPR2	3709	genome.wustl.edu	37	12	26774129	26774129	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:26774129A>C	ENST00000381340.3	-	26	3805	c.3389T>G	c.(3388-3390)gTg>gGg	p.V1130G	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1130					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCTCTTCTCCACCCATAGCTC	0.418																																						dbGAP											0													356.0	331.0	339.0					12																	26774129		1896	4131	6027	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3389T>G	12.37:g.26774129A>C	ENSP00000370744:p.Val1130Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.V1130G	ENST00000381340.3	37	c.3389	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660595	0.88154	.	.	ENSG00000123104	ENST00000381340	D	0.93906	-3.31	4.82	4.82	0.62117	.	0.066225	0.64402	D	0.000011	D	0.96303	0.8794	M	0.84219	2.685	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	D	0.96781	0.9575	10	0.66056	D	0.02	.	14.5562	0.68101	1.0:0.0:0.0:0.0	.	1130	Q14571	ITPR2_HUMAN	G	1130	ENSP00000370744:V1130G	ENSP00000370744:V1130G	V	-	2	0	ITPR2	26665396	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	9.087000	0.94110	2.024000	0.59613	0.528000	0.53228	GTG	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	456	0.22	1	A	NM_002223		26774129	26774129	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	405	11.18	51	SNP	1.000	C
ITSN1	6453	genome.wustl.edu	37	21	35138278	35138278	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:35138278A>C	ENST00000381318.3	+	10	1176	c.888A>C	c.(886-888)ccA>ccC	p.P296P	ITSN1_ENST00000399338.4_Silent_p.P296P|ITSN1_ENST00000399326.3_Silent_p.P296P|ITSN1_ENST00000381285.4_Silent_p.P296P|ITSN1_ENST00000399353.1_Silent_p.P259P|ITSN1_ENST00000381291.4_Silent_p.P296P|ITSN1_ENST00000379960.5_Silent_p.P296P|ITSN1_ENST00000399355.2_Silent_p.P296P|ITSN1_ENST00000437442.2_Silent_p.P296P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Silent_p.P296P|ITSN1_ENST00000399349.1_Silent_p.P296P|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Silent_p.P296P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	296	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACCACTGCCACCTGTCCTGC	0.438																																						dbGAP											0													107.0	86.0	93.0					21																	35138278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.888A>C	21.37:g.35138278A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.P296	ENST00000381318.3	37	c.888	CCDS33545.1	21																																																																																			ITSN1	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000205726		0.438	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	82	0.00	0	A	NM_003024		35138278	35138278	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	silent	83	20.19	21	SNP	0.128	C
ITSN1	6453	genome.wustl.edu	37	21	35190573	35190573	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:35190573T>G	ENST00000381318.3	+	23	3018	c.2730T>G	c.(2728-2730)ggT>ggG	p.G910G	ITSN1_ENST00000399326.3_Silent_p.G905G|ITSN1_ENST00000381285.4_Silent_p.G910G|ITSN1_ENST00000399353.1_Silent_p.G868G|ITSN1_ENST00000381291.4_Silent_p.G910G|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399355.2_Silent_p.G910G|ITSN1_ENST00000437442.2_Silent_p.G905G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Silent_p.G905G|ITSN1_ENST00000399349.1_Silent_p.G905G|ITSN1_ENST00000399367.3_Silent_p.G905G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	910					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CACACAAGGGTGAAAAGGTGG	0.458																																						dbGAP											0													79.0	71.0	73.0					21																	35190573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2730T>G	21.37:g.35190573T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G910	ENST00000381318.3	37	c.2730	CCDS33545.1	21																																																																																			ITSN1	-	superfamily_SH3_domain	ENSG00000205726		0.458	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	136	0.00	0	T	NM_003024		35190573	35190573	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	silent	154	24.76	51	SNP	0.984	G
ITSN1	6453	genome.wustl.edu	37	21	35190581	35190581	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:35190581T>G	ENST00000381318.3	+	23	3026	c.2738T>G	c.(2737-2739)gTg>gGg	p.V913G	ITSN1_ENST00000399326.3_Missense_Mutation_p.V908G|ITSN1_ENST00000381285.4_Missense_Mutation_p.V913G|ITSN1_ENST00000399353.1_Missense_Mutation_p.V871G|ITSN1_ENST00000381291.4_Missense_Mutation_p.V913G|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.V913G|ITSN1_ENST00000437442.2_Missense_Mutation_p.V908G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.V908G|ITSN1_ENST00000399349.1_Missense_Mutation_p.V908G|ITSN1_ENST00000399367.3_Missense_Mutation_p.V908G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	913	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGTGAAAAGGTGGAGGGGCTA	0.443																																						dbGAP											0													84.0	76.0	79.0					21																	35190581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2738T>G	21.37:g.35190581T>G	ENSP00000370719:p.Val913Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V913G	ENST00000381318.3	37	c.2738	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978607	0.74360	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	T;T;T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.75	4.57	0.56435	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	L	0.29908	0.895	0.80722	D	1	P;D;B;D;D;D;D;B;D	0.89917	0.76;1.0;0.029;1.0;0.999;1.0;1.0;0.126;1.0	B;D;B;D;D;D;D;B;D	0.87578	0.343;0.998;0.023;0.997;0.995;0.997;0.997;0.113;0.995	T	0.02226	-1.1192	10	0.62326	D	0.03	.	12.8483	0.57842	0.0:0.0:0.1363:0.8637	.	876;876;871;908;913;908;913;908;871	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	G	871;913;913;913;913;908;908;908;913;908;908;908	ENSP00000382290:V871G;ENSP00000370719:V913G;ENSP00000370691:V913G;ENSP00000370685:V913G;ENSP00000382301:V908G;ENSP00000382289:V908G;ENSP00000382292:V913G;ENSP00000382286:V908G;ENSP00000387377:V908G;ENSP00000382265:V908G	ENSP00000370685:V913G	V	+	2	0	ITSN1	34112451	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.671000	0.83941	0.960000	0.38005	0.374000	0.22700	GTG	ITSN1	-	superfamily_SH3_domain,pfscan_SH3_domain	ENSG00000205726		0.443	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	140	0.70	1	T	NM_003024		35190581	35190581	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	160	22.33	46	SNP	1.000	G
JAG1	182	genome.wustl.edu	37	20	10626028	10626028	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:10626028A>C	ENST00000254958.5	-	16	2604	c.2089T>G	c.(2089-2091)Tgg>Ggg	p.W697G	JAG1_ENST00000423891.2_Missense_Mutation_p.W538G|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	697	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTCCTTTCCACCCATTTTTA	0.522									Alagille Syndrome																													dbGAP											0													146.0	140.0	142.0					20																	10626028		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2089T>G	20.37:g.10626028A>C	ENSP00000254958:p.Trp697Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.W697G	ENST00000254958.5	37	c.2089	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518236	0.64634	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.92099	-2.97;-2.97	5.63	5.63	0.86233	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97204	0.9086	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98319	1.0527	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	697	P78504	JAG1_HUMAN	G	697;538	ENSP00000254958:W697G;ENSP00000389519:W538G	ENSP00000254958:W697G	W	-	1	0	JAG1	10574028	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	9.339000	0.96797	2.145000	0.66743	0.533000	0.62120	TGG	JAG1	-	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000101384		0.522	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		83	0.00	0	A	NM_000214		10626028	10626028	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	missense	92	20.51	24	SNP	1.000	C
JAG1	182	genome.wustl.edu	37	20	10626844	10626844	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:10626844A>C	ENST00000254958.5	-	15	2401				JAG1_ENST00000423891.2_Intron|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1						angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGCACCTCCACCTGCTACCC	0.493									Alagille Syndrome																													dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1886-112T>G	20.37:g.10626844A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	RNA	SNP	-	NULL	ENST00000254958.5	37	NULL	CCDS13112.1	20																																																																																			JAG1	-	-	ENSG00000101384		0.493	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		35	0.00	0	A	NM_000214		10626844	10626844	-1	no_errors	ENST00000488480	ensembl	human	known	69_37n	rna	23	36.11	13	SNP	0.000	C
JAK1	3716	genome.wustl.edu	37	1	65325612	65325612	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:65325612T>G	ENST00000342505.4	-	9	1583					NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAGAGGATGGTAGGAGATTAC	0.507			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0																																										-	-	-	SO:0001627	intron_variant	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1334+175A>C	1.37:g.65325612T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GQ2|Q9UD26	RNA	SNP	-	NULL	ENST00000342505.4	37	NULL	CCDS41346.1	1																																																																																			JAK1	-	-	ENSG00000162434		0.507	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	30	0.00	0	T	NM_002227		65325612	65325612	-1	no_errors	ENST00000494904	ensembl	human	putative	69_37n	rna	16	23.81	5	SNP	0.000	G
JAK1	3716	genome.wustl.edu	37	1	65332736	65332736	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:65332736A>C	ENST00000342505.4	-	7	1051	c.803T>G	c.(802-804)gTg>gGg	p.V268G		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAAGTATTTCACCTTCAGGTC	0.388			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													206.0	190.0	195.0					1																	65332736		1899	4131	6030	-	-	-	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.803T>G	1.37:g.65332736A>C	ENSP00000343204:p.Val268Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.V268G	ENST00000342505.4	37	c.803	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856686	0.91433	.	.	ENSG00000162434	ENST00000342505	T	0.57752	0.38	5.55	5.55	0.83447	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.54062	0.1835	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	P	0.54544	0.755	T	0.54029	-0.8354	9	0.37606	T	0.19	-6.29	16.0621	0.80843	1.0:0.0:0.0:0.0	.	268	P23458	JAK1_HUMAN	G	268	ENSP00000343204:V268G	ENSP00000343204:V268G	V	-	2	0	JAK1	65105324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.252000	0.74401	0.529000	0.55759	GTG	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000162434		0.388	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	314	0.32	1	A	NM_002227		65332736	65332736	-1	no_errors	ENST00000342505	ensembl	human	known	69_37n	missense	225	12.79	33	SNP	1.000	C
JAKMIP2	9832	genome.wustl.edu	37	5	147040935	147040935	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:147040935A>C	ENST00000265272.5	-	3	670	c.203T>G	c.(202-204)gTg>gGg	p.V68G	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.V68G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.V26G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	68						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCACCAGCACCGTGTGCTT	0.493																																						dbGAP											0													145.0	134.0	138.0					5																	147040935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.203T>G	5.37:g.147040935A>C	ENSP00000265272:p.Val68Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.V68G	ENST00000265272.5	37	c.203	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104163	0.37145	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.36699	1.24;1.24;1.24	4.53	4.53	0.55603	.	0.060680	0.64402	D	0.000003	T	0.34048	0.0884	L	0.57536	1.79	0.80722	D	1	B;P;P;P	0.36909	0.073;0.573;0.573;0.573	B;B;B;B	0.30401	0.037;0.115;0.115;0.115	T	0.38067	-0.9678	10	0.72032	D	0.01	.	14.5663	0.68179	1.0:0.0:0.0:0.0	.	26;68;68;68	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	G	68;68;26;68	ENSP00000421398:V68G;ENSP00000265272:V68G;ENSP00000328989:V26G	ENSP00000265272:V68G	V	-	2	0	JAKMIP2	147021128	1.000000	0.71417	0.993000	0.49108	0.641000	0.38312	4.866000	0.63005	1.991000	0.58162	0.379000	0.24179	GTG	JAKMIP2	-	NULL	ENSG00000176049		0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	281	0.00	0	A	NM_014790		147040935	147040935	-1	no_errors	ENST00000265272	ensembl	human	known	69_37n	missense	292	13.02	44	SNP	1.000	C
KAL1	3730	genome.wustl.edu	37	X	8503572	8503572	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:8503572T>G	ENST00000262648.3	-	12	1992				KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CCTCTGAAGGTCAGTAAAAAG	0.428																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1842+59A>C	X.37:g.8503572T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPF8	RNA	SNP	-	NULL	ENST00000262648.3	37	NULL	CCDS14130.1	X																																																																																			KAL1	-	-	ENSG00000011201		0.428	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1	41	0.00	0	T	NM_000216		8503572	8503572	-1	no_errors	ENST00000481896	ensembl	human	known	69_37n	rna	33	17.50	7	SNP	0.000	G
KALRN	8997	genome.wustl.edu	37	3	124385449	124385449	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:124385449A>C	ENST00000291478.5	+	13	1568	c.1405A>C	c.(1405-1407)Acc>Ccc	p.T469P	KALRN_ENST00000360013.3_Missense_Mutation_p.T2166P|KALRN_ENST00000459915.1_Missense_Mutation_p.T258P|KALRN_ENST00000428018.2_Missense_Mutation_p.T437P|KALRN_ENST00000393496.1_Missense_Mutation_p.T507P	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2165					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGATCCCTCACCCCTGGCTA	0.542																																						dbGAP											0													75.0	69.0	71.0					3																	124385449		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1405A>C	3.37:g.124385449A>C	ENSP00000291478:p.Thr469Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T2166P	ENST00000291478.5	37	c.6496	CCDS3028.1	3	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931397	0.73442	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.60845	1.875	0.40855	D	0.983789	P;D;D;D	0.89917	0.93;1.0;1.0;0.978	P;D;D;P	0.76575	0.658;0.972;0.988;0.497	T	0.04840	-1.0923	10	0.52906	T	0.07	.	14.9419	0.71000	1.0:0.0:0.0:0.0	.	258;469;507;2165	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	P	2166;507;469;437;258	ENSP00000353109:T2166P;ENSP00000377134:T507P;ENSP00000291478:T469P;ENSP00000402419:T437P;ENSP00000420318:T258P	ENSP00000291478:T469P	T	+	1	0	KALRN	125868139	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.881000	0.69706	2.123000	0.65237	0.460000	0.39030	ACC	KALRN	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000160145		0.542	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	56	0.00	0	A	NM_003947		124385449	124385449	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	56	21.92	16	SNP	1.000	C
KANSL3	55683	genome.wustl.edu	37	2	97277974	97277974	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:97277974T>G	ENST00000431828.1	-	9	1163				KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Intron|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000599854.1_Intron			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											tgattaGTGGTATTCCATCCC	0.388																																						dbGAP											0													48.0	45.0	46.0					2																	97277974		1903	4132	6035	-	-	-	SO:0001627	intron_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1086+44A>C	2.37:g.97277974T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.I171	ENST00000431828.1	37	c.513	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.388	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	108	0.00	0	T	NM_017991		97277974	97277974	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000448075	ensembl	human	putative	69_37n	silent	80	21.57	22	SNP	0.000	G
KARS	3735	genome.wustl.edu	37	16	75665399	75665399	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:75665399T>G	ENST00000302445.3	-	9	1206	c.1167A>C	c.(1165-1167)ccA>ccC	p.P389P	KARS_ENST00000319410.5_Silent_p.P417P|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	389					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GCCGGAAGGGTGGGGTGAAGT	0.512																																						dbGAP											0													118.0	113.0	114.0					16																	75665399		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1167A>C	16.37:g.75665399T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-synth_II	p.P417	ENST00000302445.3	37	c.1251	CCDS10923.1	16																																																																																			KARS	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-synth_II	ENSG00000065427		0.512	KARS-001	KNOWN	basic|CCDS	protein_coding	KARS	HGNC	protein_coding	OTTHUMT00000269023.1	78	0.00	0	T	NM_005548		75665399	75665399	-1	no_errors	ENST00000319410	ensembl	human	known	69_37n	silent	74	15.91	14	SNP	0.909	G
KAT2B	8850	genome.wustl.edu	37	3	20189800	20189800	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:20189800T>G	ENST00000263754.4	+	16	2675		c.e16+2			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAGGTGAAGGTGGGTGTCCTC	0.418																																						dbGAP											0													67.0	71.0	70.0					3																	20189800		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2220+2T>G	3.37:g.20189800T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSK1	Splice_Site	SNP	-	e16+2	ENST00000263754.4	37	c.2220+2	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	T	12.21	1.871048	0.33069	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT2B	20164804	1.000000	0.71417	0.999000	0.59377	0.121000	0.20230	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	.	KAT2B	-	-	ENSG00000114166		0.418	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	192	0.00	0	T	NM_003884	Intron	20189800	20189800	+1	no_errors	ENST00000263754	ensembl	human	known	69_37n	splice_site	197	12.78	29	SNP	1.000	G
KAT6B	23522	genome.wustl.edu	37	10	76788734	76788734	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:76788734T>G	ENST00000287239.4	+	18	4641	c.4152T>G	c.(4150-4152)ggT>ggG	p.G1384G	KAT6B_ENST00000372714.1_Silent_p.G1092G|KAT6B_ENST00000372724.1_Silent_p.G1092G|KAT6B_ENST00000372711.1_Silent_p.G1201G|KAT6B_ENST00000372725.1_Silent_p.G1092G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1384					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										aTCCAGATGGTGCTAAAAGCC	0.468																																						dbGAP											0													61.0	60.0	60.0					10																	76788734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4152T>G	10.37:g.76788734T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G1384	ENST00000287239.4	37	c.4152	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.468	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	238	0.41	1	T	NM_012330		76788734	76788734	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	silent	176	12.81	26	SNP	0.203	G
KBTBD6	89890	genome.wustl.edu	37	13	41705646	41705646	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:41705646T>G	ENST00000379485.1	-	1	1236	c.1002A>C	c.(1000-1002)ccA>ccC	p.P334P	KBTBD6_ENST00000499385.2_Silent_p.P268P	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	334										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTCTCTGGGGTGGATTTTCTG	0.522																																						dbGAP											0													46.0	58.0	54.0					13																	41705646		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1002A>C	13.37:g.41705646T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P334	ENST00000379485.1	37	c.1002	CCDS9376.1	13																																																																																			KBTBD6	-	NULL	ENSG00000165572		0.522	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	181	0.00	0	T	NM_152903		41705646	41705646	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	silent	157	16.93	32	SNP	0.158	G
KBTBD8	84541	genome.wustl.edu	37	3	67054597	67054597	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:67054597T>G	ENST00000417314.2	+	3	1255	c.1206T>G	c.(1204-1206)ggT>ggG	p.G402G	KBTBD8_ENST00000295568.4_Silent_p.G376G|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	402						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTTATGAAGGTGATGGGAGAA	0.438																																						dbGAP											0													194.0	183.0	187.0					3																	67054597		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1206T>G	3.37:g.67054597T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW6|Q96JI5	Silent	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,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.G402	ENST00000417314.2	37	c.1206	CCDS2906.2	3																																																																																			KBTBD8	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000163376		0.438	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	214	0.47	1	T	NM_032505		67054597	67054597	+1	no_errors	ENST00000417314	ensembl	human	known	69_37n	silent	159	15.87	30	SNP	0.891	G
KCNA1	3736	genome.wustl.edu	37	12	5021756	5021756	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:5021756A>C	ENST00000382545.3	+	2	2319	c.1212A>C	c.(1210-1212)gtA>gtC	p.V404V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	404			V -> I (in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters). {ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:9600245}.		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCCTGCCCGTACCTGTCATTG	0.522																																						dbGAP											0													316.0	308.0	311.0					12																	5021756		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1212A>C	12.37:g.5021756A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM83|Q3MIQ9	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.V404	ENST00000382545.3	37	c.1212	CCDS8535.1	12																																																																																			KCNA1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000111262		0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	290	0.34	1	A	NM_000217		5021756	5021756	+1	no_errors	ENST00000382545	ensembl	human	known	69_37n	silent	228	11.20	29	SNP	1.000	C
KCNA10	3744	genome.wustl.edu	37	1	111060119	111060119	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:111060119T>G	ENST00000369771.2	-	1	1678	c.1291A>C	c.(1291-1293)Acc>Ccc	p.T431P		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	431					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CCCCCTGGGGTGGTCGGGCAC	0.552																																						dbGAP											0													65.0	56.0	59.0					1																	111060119		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1291A>C	1.37:g.111060119T>G	ENSP00000358786:p.Thr431Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.T431P	ENST00000369771.2	37	c.1291	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283371	0.59867	.	.	ENSG00000143105	ENST00000369771	D	0.98221	-4.8	5.54	4.38	0.52667	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.99815	4.805	0.48236	D	0.999617	D	0.76494	0.999	D	0.87578	0.998	D	0.98030	1.0376	10	0.87932	D	0	.	10.7802	0.46374	0.1422:0.0:0.0:0.8578	.	431	Q16322	KCA10_HUMAN	P	431	ENSP00000358786:T431P	ENSP00000358786:T431P	T	-	1	0	KCNA10	110861642	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.260000	0.72502	0.896000	0.36366	0.379000	0.24179	ACC	KCNA10	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PKD1_2_channel	ENSG00000143105		0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA10	HGNC	protein_coding	OTTHUMT00000059081.1	99	0.00	0	T	NM_005549		111060119	111060119	-1	no_errors	ENST00000369771	ensembl	human	known	69_37n	missense	72	18.89	17	SNP	1.000	G
KCNA4	3739	genome.wustl.edu	37	11	30032939	30032939	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:30032939A>C	ENST00000328224.6	-	2	2520	c.1287T>G	c.(1285-1287)ggT>ggG	p.G429G	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACCATTGCCACCCCCCTGTT	0.498																																						dbGAP											0													70.0	68.0	69.0					11																	30032939		2072	4233	6305	-	-	-	SO:0001819	synonymous_variant	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1287T>G	11.37:g.30032939A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G429	ENST00000328224.6	37	c.1287	CCDS41629.1	11																																																																																			KCNA4	-	pfam_Ion_trans_dom	ENSG00000182255		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	187	0.00	0	A	NM_002233		30032939	30032939	-1	no_errors	ENST00000328224	ensembl	human	known	69_37n	silent	256	10.76	31	SNP	0.996	C
KCND2	3751	genome.wustl.edu	37	7	120382628	120382628	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:120382628A>C	ENST00000331113.4	+	4	2404	c.1439A>C	c.(1438-1440)cAc>cCc	p.H480P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	480	Mediates dendritic targeting. {ECO:0000250}.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGCACCACCACCTGCTTCAC	0.458																																						dbGAP											0													125.0	119.0	121.0					7																	120382628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1439A>C	7.37:g.120382628A>C	ENSP00000333496:p.His480Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.H480P	ENST00000331113.4	37	c.1439	CCDS5776.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.539602|4.539602	0.85917|0.85917	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000331113|ENST00000425288	D|.	0.91351|.	-2.83|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Potassium channel, voltage dependent, Kv4, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75027|0.75027	0.3794|0.3794	M|M	0.76170|0.76170	2.325|2.325	0.52099|0.52099	D|D	0.999944|0.999944	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75900|0.75900	-0.3154|-0.3154	9|5	.|.	.|.	.|.	.|.	15.7345|15.7345	0.77831|0.77831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	480|.	Q9NZV8|.	KCND2_HUMAN|.	P|P	480|66	ENSP00000333496:H480P|.	.|.	H|T	+|+	2|1	0|0	KCND2|KCND2	120169864|120169864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.625000|8.625000	0.90965|0.90965	2.170000|2.170000	0.68504|0.68504	0.455000|0.455000	0.32223|0.32223	CAC|ACC	KCND2	-	pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4	ENSG00000184408		0.458	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	136	0.72	1	A	NM_012281		120382628	120382628	+1	no_errors	ENST00000331113	ensembl	human	known	69_37n	missense	117	13.87	19	SNP	1.000	C
KCND3	3752	genome.wustl.edu	37	1	112319781	112319781	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:112319781T>G	ENST00000315987.2	-	7	2112	c.1633A>C	c.(1633-1635)Acc>Ccc	p.T545P	KCND3_ENST00000369697.1_Missense_Mutation_p.T526P|KCND3_ENST00000302127.4_Missense_Mutation_p.T526P	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	545					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GAGCAGCAGGTGGTAGTGAGG	0.542																																						dbGAP											0													241.0	218.0	226.0					1																	112319781		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1633A>C	1.37:g.112319781T>G	ENSP00000319591:p.Thr545Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.T545P	ENST00000315987.2	37	c.1633	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.227179	0.58668	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.85258	-1.96;-1.96;-1.96	5.32	4.15	0.48705	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.210305	0.49916	D	0.000127	T	0.76969	0.4062	L	0.55481	1.735	0.50632	D	0.999882	B;B	0.29671	0.029;0.254	B;B	0.39840	0.094;0.311	T	0.78521	-0.2172	10	0.49607	T	0.09	.	7.9519	0.30019	0.4095:0.0:0.0:0.5905	.	526;545	Q14D71;Q9UK17	.;KCND3_HUMAN	P	526;545;526	ENSP00000358711:T526P;ENSP00000319591:T545P;ENSP00000306923:T526P	ENSP00000306923:T526P	T	-	1	0	KCND3	112121304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.229000	0.58625	2.008000	0.58898	0.528000	0.53228	ACC	KCND3	-	pfam_K_chnl_volt-dep_Kv4_C	ENSG00000171385		0.542	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	126	0.79	1	T	NM_172198		112319781	112319781	-1	no_errors	ENST00000315987	ensembl	human	known	69_37n	missense	77	21.43	21	SNP	1.000	G
KCNH7	90134	genome.wustl.edu	37	2	163256808	163256808	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:163256808T>G	ENST00000332142.5	-	10	2397	c.2298A>C	c.(2296-2298)gcA>gcC	p.A766A		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	766					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTCCTGGAGGTGCATGGGTGG	0.473																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													154.0	155.0	155.0					2																	163256808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2298A>C	2.37:g.163256808T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.A766	ENST00000332142.5	37	c.2298	CCDS2219.1	2																																																																																			KCNH7	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom	ENSG00000184611		0.473	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	266	0.00	0	T	NM_033272		163256808	163256808	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	silent	146	18.44	33	SNP	0.987	G
KCNH8	131096	genome.wustl.edu	37	3	19575395	19575395	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:19575395A>C	ENST00000328405.2	+	16	3394	c.3128A>C	c.(3127-3129)cAc>cCc	p.H1043P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1043	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACATCTTTGCACCTAGTTCTC	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0													116.0	112.0	113.0					3																	19575395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3128A>C	3.37:g.19575395A>C	ENSP00000328813:p.His1043Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.H1043P	ENST00000328405.2	37	c.3128	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955203	0.53293	.	.	ENSG00000183960	ENST00000328405	D	0.98822	-5.16	5.5	5.5	0.81552	.	0.000000	0.33235	U	0.005124	D	0.98614	0.9536	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.99379	1.0922	9	.	.	.	.	15.5965	0.76587	1.0:0.0:0.0:0.0	.	1043	Q96L42	KCNH8_HUMAN	P	1043	ENSP00000328813:H1043P	.	H	+	2	0	KCNH8	19550399	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.778000	0.75043	2.094000	0.63399	0.533000	0.62120	CAC	KCNH8	-	NULL	ENSG00000183960		0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	281	0.00	0	A	NM_144633		19575395	19575395	+1	no_errors	ENST00000328405	ensembl	human	known	69_37n	missense	202	12.50	29	SNP	1.000	C
KCNJ10	3766	genome.wustl.edu	37	1	160011387	160011387	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:160011387T>G	ENST00000368089.3	-	2	1162	c.936A>C	c.(934-936)acA>acC	p.T312T	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	312					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	AGATGGCAGGTGTGAACTCGT	0.537																																					GBM(167;1368 2014 14817 36425 43215)	dbGAP											0													93.0	82.0	86.0					1																	160011387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.936A>C	1.37:g.160011387T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME7|Q5VUT9|Q8N4I7|Q92808	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.T312	ENST00000368089.3	37	c.936	CCDS1193.1	1																																																																																			KCNJ10	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	ENSG00000177807		0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	172	0.58	1	T	NM_002241		160011387	160011387	-1	no_errors	ENST00000368089	ensembl	human	known	69_37n	silent	189	21.49	52	SNP	0.904	G
KCNJ10	3766	genome.wustl.edu	37	1	160012303	160012303	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:160012303A>C	ENST00000368089.3	-	2	246	c.20T>G	c.(19-21)gTg>gGg	p.V7G	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	7					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	ACTGTAATACACCTTGGCAAC	0.542																																					GBM(167;1368 2014 14817 36425 43215)	dbGAP											0													67.0	60.0	62.0					1																	160012303		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.20T>G	1.37:g.160012303A>C	ENSP00000357068:p.Val7Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.V7G	ENST00000368089.3	37	c.20	CCDS1193.1	1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582789	0.65992	.	.	ENSG00000177807	ENST00000368089	D	0.89746	-2.56	5.17	5.17	0.71159	.	0.266072	0.37483	N	0.002066	D	0.84515	0.5489	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.89411	0.3703	10	0.87932	D	0	.	13.0029	0.58687	1.0:0.0:0.0:0.0	.	7	P78508	IRK10_HUMAN	G	7	ENSP00000357068:V7G	ENSP00000357068:V7G	V	-	2	0	KCNJ10	158278927	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.119000	0.89579	2.171000	0.68590	0.482000	0.46254	GTG	KCNJ10	-	prints_K_chnl_inward-rec_Kir1.2	ENSG00000177807		0.542	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	214	0.00	0	A	NM_002241		160012303	160012303	-1	no_errors	ENST00000368089	ensembl	human	known	69_37n	missense	295	12.68	43	SNP	1.000	C
KCNJ2	3759	genome.wustl.edu	37	17	68172085	68172085	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:68172085T>G	ENST00000243457.3	+	2	1288	c.905T>G	c.(904-906)gTg>gGg	p.V302G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V302G	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	302			V -> M (in LQT7). {ECO:0000269|PubMed:12163457}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GAAGGCATGGTGGAAGCCACT	0.458																																						dbGAP											0													63.0	65.0	65.0					17																	68172085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.905T>G	17.37:g.68172085T>G	ENSP00000243457:p.Val302Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.V302G	ENST00000243457.3	37	c.905	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448866	0.63178	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95788	-3.81;-3.81	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98648	1.0678	9	.	.	.	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	302	P63252	IRK2_HUMAN	G	302	ENSP00000441848:V302G;ENSP00000243457:V302G	.	V	+	2	0	KCNJ2	65683680	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	GTG	KCNJ2	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000123700		0.458	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	118	0.84	1	T	NM_000891		68172085	68172085	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	missense	91	14.15	15	SNP	1.000	G
KCNJ6	3763	genome.wustl.edu	37	21	39086841	39086841	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:39086841T>G	ENST00000609713.1	-	3	1208	c.619A>C	c.(619-621)Acc>Ccc	p.T207P	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T207P|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	207					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTGCATGGGTGGAAAAGACC	0.507																																					Pancreas(48;379 1118 2936 19024 28214)	dbGAP											0													57.0	56.0	57.0					21																	39086841		1943	4163	6106	-	-	-	SO:0001583	missense	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.619A>C	21.37:g.39086841T>G	ENSP00000477437:p.Thr207Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2	p.T207P	ENST00000609713.1	37	c.619	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007890	0.54361	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91464	-2.85;-2.85	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	N	0.12569	0.235	0.58432	D	0.999997	P	0.41475	0.751	B	0.41946	0.371	D	0.86705	0.1932	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	207	P48051	IRK6_HUMAN	P	207	ENSP00000383330:T207P;ENSP00000288309:T207P	ENSP00000288309:T207P	T	-	1	0	KCNJ6	38008711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.062000	0.57492	2.371000	0.80710	0.533000	0.62120	ACC	KCNJ6	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000157542		0.507	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	101	0.00	0	T	NM_002240		39086841	39086841	-1	no_errors	ENST00000288309	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	1.000	G
KCNJ8	3764	genome.wustl.edu	37	12	21919227	21919227	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:21919227T>G	ENST00000240662.2	-	3	1050	c.705A>C	c.(703-705)acA>acC	p.T235T	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	235					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CCCCTTCAGGTGTAGTTGTTT	0.483																																						dbGAP											0													126.0	116.0	119.0					12																	21919227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.705A>C	12.37:g.21919227T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00657	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.1	p.T235	ENST00000240662.2	37	c.705	CCDS8692.1	12																																																																																			KCNJ8	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000121361		0.483	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	254	0.39	1	T	NM_004982		21919227	21919227	-1	no_errors	ENST00000240662	ensembl	human	known	69_37n	silent	177	12.20	25	SNP	0.100	G
KCNK16	83795	genome.wustl.edu	37	6	39290284	39290284	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:39290284A>C	ENST00000373229.5	-	1	46	c.33T>G	c.(31-33)ggT>ggG	p.G11G	KCNK16_ENST00000425054.2_Silent_p.G11G|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Silent_p.G11G|KCNK16_ENST00000373227.4_Silent_p.G11G	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	11					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCACCCGGCCACCCCAGCAGC	0.672																																						dbGAP											0													19.0	18.0	18.0					6																	39290284		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.33T>G	6.37:g.39290284A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.G11	ENST00000373229.5	37	c.33	CCDS4843.1	6																																																																																			KCNK16	-	NULL	ENSG00000095981		0.672	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	23	0.00	0	A	NM_032115		39290284	39290284	-1	no_errors	ENST00000425054	ensembl	human	known	69_37n	silent	7	50.00	7	SNP	0.558	C
KCNMB2	10242	genome.wustl.edu	37	3	178546070	178546070	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:178546070A>C	ENST00000432997.1	+	4	684	c.332A>C	c.(331-333)tAc>tCc	p.Y111S	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y111S|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y111S|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y111S	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	123					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	CTTTCTCAGTACCCCTGCCTC	0.478																																						dbGAP											0													115.0	97.0	103.0					3																	178546070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.332A>C	3.37:g.178546070A>C	ENSP00000407592:p.Tyr111Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.Y111S	ENST00000432997.1	37	c.332	CCDS3223.1	3	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009879	0.93346	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	M	0.76727	2.345	0.80722	D	1	P	0.52577	0.954	P	0.57057	0.812	T	0.17198	-1.0377	10	0.66056	D	0.02	-26.6747	16.4781	0.84144	1.0:0.0:0.0:0.0	.	111	Q9Y691	KCMB2_HUMAN	S	111;111;111;111;111;92	ENSP00000395807:Y111S;ENSP00000408252:Y111S;ENSP00000397483:Y111S;ENSP00000407592:Y111S;ENSP00000351068:Y111S	ENSP00000351068:Y111S	Y	+	2	0	KCNMB2	180028764	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.859000	0.92264	2.288000	0.76882	0.528000	0.53228	TAC	KCNMB2	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000197584		0.478	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	84	0.00	0	A	NM_181361		178546070	178546070	+1	no_errors	ENST00000358316	ensembl	human	known	69_37n	missense	75	21.65	21	SNP	1.000	C
KCNQ5	56479	genome.wustl.edu	37	6	73815081	73815081	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:73815081A>C	ENST00000370398.1	+	6	1129	c.1020A>C	c.(1018-1020)gcA>gcC	p.A340A	KCNQ5_ENST00000355194.4_Silent_p.A340A|KCNQ5_ENST00000342056.2_Silent_p.A340A|KCNQ5_ENST00000402622.2_Silent_p.A340A|KCNQ5_ENST00000370392.1_Silent_p.A340A|KCNQ5_ENST00000355635.3_Silent_p.A340A|KCNQ5_ENST00000414165.2_Silent_p.A340A|KCNQ5_ENST00000403813.2_Silent_p.A340A	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	340					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTTCTTTGCACTTCCTGCCG	0.408																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													192.0	188.0	189.0					6																	73815081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1020A>C	6.37:g.73815081A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.A340	ENST00000370398.1	37	c.1020	CCDS4976.1	6																																																																																			KCNQ5	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl	ENSG00000185760		0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	448	0.66	3	A	NM_019842		73815081	73815081	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	silent	325	13.72	52	SNP	0.997	C
KCNQ5	56479	genome.wustl.edu	37	6	73843278	73843278	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:73843278T>G	ENST00000370398.1	+	10	1491	c.1382T>G	c.(1381-1383)gTg>gGg	p.V461G	KCNQ5_ENST00000355194.4_Missense_Mutation_p.V461G|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V480G|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V471G|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V462G|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V452G|KCNQ5-AS1_ENST00000429832.1_RNA	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	461					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CCCACCAAAGTGCAGAAGAGC	0.577																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													106.0	104.0	105.0					6																	73843278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1382T>G	6.37:g.73843278T>G	ENSP00000359425:p.Val461Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.V471G	ENST00000370398.1	37	c.1412	CCDS4976.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.1|24.1	4.488923|4.488923	0.84962|0.84962	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000427928|ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	.|D;D;D;D;D;D	.|0.99719	.|-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99432|0.99432	0.9799|0.9799	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.63880	.|0.566;0.993;0.511;0.917	.|B;P;B;P	.|0.62089	.|0.198;0.898;0.187;0.783	D|D	0.98383|0.98383	1.0559|1.0559	5|10	.|0.66056	.|D	.|0.02	.|.	14.6356|14.6356	0.68686|0.68686	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|471;480;452;461	.|Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.|.;.;.;KCNQ5_HUMAN	R|G	52|480;480;461;461;471;462;452	.|ENSP00000345055:V480G;ENSP00000347326:V461G;ENSP00000359425:V461G;ENSP00000385501:V471G;ENSP00000347853:V462G;ENSP00000384453:V452G	.|ENSP00000345055:V480G	S|V	+|+	3|2	2|0	KCNQ5|KCNQ5	73899999|73899999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.655000|7.655000	0.83696|0.83696	2.257000|2.257000	0.74773|0.74773	0.460000|0.460000	0.39030|0.39030	AGT|GTG	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000185760		0.577	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	114	0.00	0	T	NM_019842		73843278	73843278	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	84	13.40	13	SNP	1.000	G
KCNS3	3790	genome.wustl.edu	37	2	18113138	18113138	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:18113138T>G	ENST00000403915.1	+	3	1314	c.863T>G	c.(862-864)gTg>gGg	p.V288G	KCNS3_ENST00000304101.4_Missense_Mutation_p.V288G|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	288					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATGGGCAAGGTGGTCCAGATC	0.488																																						dbGAP											0													119.0	114.0	116.0					2																	18113138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.863T>G	2.37:g.18113138T>G	ENSP00000385968:p.Val288Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.V288G	ENST00000403915.1	37	c.863	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852344	0.71719	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98835	-5.17;-5.17	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.95260	3.645	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98492	1.0610	10	0.87932	D	0	.	16.255	0.82510	0.0:0.0:0.0:1.0	.	288	Q9BQ31	KCNS3_HUMAN	G	288	ENSP00000385968:V288G;ENSP00000305824:V288G	ENSP00000305824:V288G	V	+	2	0	KCNS3	17976619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.240000	0.73641	0.533000	0.62120	GTG	KCNS3	-	pfam_Ion_trans_dom	ENSG00000170745		0.488	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	252	0.79	2	T	NM_002252		18113138	18113138	+1	no_errors	ENST00000304101	ensembl	human	known	69_37n	missense	198	12.39	28	SNP	1.000	G
KCTD19	146212	genome.wustl.edu	37	16	67327854	67327854	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67327854T>G	ENST00000304372.5	-	12	1866	c.1811A>C	c.(1810-1812)cAc>cCc	p.H604P		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	604					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCTCTCAGGGTGGCTCCCCCA	0.542																																						dbGAP											0													138.0	143.0	142.0					16																	67327854		1922	4133	6055	-	-	-	SO:0001583	missense	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1811A>C	16.37:g.67327854T>G	ENSP00000305702:p.His604Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.H604P	ENST00000304372.5	37	c.1811	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	T	10.61	1.397998	0.25205	.	.	ENSG00000168676	ENST00000304372	T	0.59083	0.29	5.63	1.86	0.25419	.	0.185563	0.38111	N	0.001806	T	0.40886	0.1135	L	0.27053	0.805	0.29980	N	0.817755	B	0.27068	0.167	B	0.28011	0.085	T	0.39663	-0.9603	10	0.62326	D	0.03	-4.8102	7.5647	0.27872	0.0:0.2739:0.0:0.7261	.	604	Q17RG1	KCD19_HUMAN	P	604	ENSP00000305702:H604P	ENSP00000305702:H604P	H	-	2	0	KCTD19	65885355	0.993000	0.37304	0.802000	0.32245	0.392000	0.30506	0.842000	0.27627	0.324000	0.23333	0.459000	0.35465	CAC	KCTD19	-	NULL	ENSG00000168676		0.542	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	114	0.87	1	T	XM_085367		67327854	67327854	-1	no_errors	ENST00000304372	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	0.842	G
KCTD19	146212	genome.wustl.edu	37	16	67335712	67335712	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67335712A>C	ENST00000304372.5	-	5	812	c.757T>G	c.(757-759)Tgg>Ggg	p.W253G	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	253					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATCCGGTACCACCTTACGGCT	0.473																																						dbGAP											0													181.0	184.0	183.0					16																	67335712		1916	4129	6045	-	-	-	SO:0001583	missense	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.757T>G	16.37:g.67335712A>C	ENSP00000305702:p.Trp253Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.W253G	ENST00000304372.5	37	c.757	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319711	0.23994	.	.	ENSG00000168676	ENST00000304372	T	0.56941	0.43	6.17	-8.34	0.00988	BTB/POZ fold (2);	0.644464	0.14546	N	0.312962	T	0.20820	0.0501	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	10	0.20046	T	0.44	-2.7262	7.2942	0.26383	0.1673:0.2052:0.5335:0.0939	.	253	Q17RG1	KCD19_HUMAN	G	253	ENSP00000305702:W253G	ENSP00000305702:W253G	W	-	1	0	KCTD19	65893213	0.002000	0.14202	0.016000	0.15963	0.689000	0.40095	-0.431000	0.06965	-1.081000	0.03105	-0.256000	0.11100	TGG	KCTD19	-	superfamily_BTB/POZ_fold	ENSG00000168676		0.473	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	135	0.00	0	A	XM_085367		67335712	67335712	-1	no_errors	ENST00000304372	ensembl	human	known	69_37n	missense	126	11.81	17	SNP	0.006	C
KDM1A	23028	genome.wustl.edu	37	1	23405610	23405610	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23405610A>C	ENST00000356634.3	+	15	2072	c.1923A>C	c.(1921-1923)ccA>ccC	p.P641P	KDM1A_ENST00000400181.4_Silent_p.P665P|KDM1A_ENST00000542151.1_Silent_p.P665P|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	641	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTTTGTGCCACCTCTCCCTG	0.502																																						dbGAP											0													100.0	99.0	99.0					1																	23405610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1923A>C	1.37:g.23405610A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.P665	ENST00000356634.3	37	c.1995	CCDS30627.1	1																																																																																			KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease	ENSG00000004487		0.502	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	241	0.41	1	A	NM_015013		23405610	23405610	+1	no_errors	ENST00000542151	ensembl	human	known	69_37n	silent	203	13.98	33	SNP	0.010	C
KDM2A	22992	genome.wustl.edu	37	11	67012672	67012672	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:67012672A>C	ENST00000529006.2	+	14	2022	c.1576A>C	c.(1576-1578)Act>Cct	p.T526P	KDM2A_ENST00000398645.2_Missense_Mutation_p.T526P|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_5'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.T87P	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	526					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TAAATTCCCCACTCGGCCAAA	0.502																																						dbGAP											0													153.0	157.0	156.0					11																	67012672		1909	4099	6008	-	-	-	SO:0001583	missense	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1576A>C	11.37:g.67012672A>C	ENSP00000432786:p.Thr526Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.T526P	ENST00000529006.2	37	c.1576	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217524	0.22373	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134	T;T;T	0.42513	0.97;2.3;1.96	5.36	-1.46	0.08800	.	0.254865	0.40385	N	0.001101	T	0.20861	0.0502	N	0.14661	0.345	0.20873	N	0.999836	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.25751	T	0.34	-0.5141	9.7275	0.40342	0.3673:0.1185:0.5142:0.0	.	526	Q9Y2K7	KDM2A_HUMAN	P	526;526;87;87	ENSP00000381640:T526P;ENSP00000432786:T526P;ENSP00000435776:T87P	ENSP00000381640:T526P	T	+	1	0	KDM2A	66769248	0.000000	0.05858	0.064000	0.19789	0.985000	0.73830	-1.371000	0.02573	-0.420000	0.07427	0.528000	0.53228	ACT	KDM2A	-	NULL	ENSG00000173120		0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	229	0.00	0	A	NM_012308		67012672	67012672	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	missense	207	13.39	32	SNP	0.002	C
KDM4C	23081	genome.wustl.edu	37	9	6849509	6849509	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:6849509T>G	ENST00000381309.3	+	5	1003	c.438T>G	c.(436-438)ggT>ggG	p.G146G	KDM4C_ENST00000535193.1_Silent_p.G168G|KDM4C_ENST00000543771.1_Silent_p.G146G|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000381306.3_Silent_p.G146G|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_5'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	146	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CATTCCAGGGTGTGGATGAAT	0.368																																						dbGAP											0													140.0	126.0	131.0					9																	6849509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.438T>G	9.37:g.6849509T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.G146	ENST00000381309.3	37	c.438	CCDS6471.1	9																																																																																			KDM4C	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000107077		0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	236	0.00	0	T	NM_015061		6849509	6849509	+1	no_errors	ENST00000381309	ensembl	human	known	69_37n	silent	258	12.20	36	SNP	1.000	G
KDM5A	5927	genome.wustl.edu	37	12	404772	404772	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:404772T>G	ENST00000399788.2	-	26	4784	c.4422A>C	c.(4420-4422)ccA>ccC	p.P1474P	KDM5A_ENST00000540838.1_5'Flank|KDM5A_ENST00000382815.4_Silent_p.P1474P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1474					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCAGAGGGTGGGTGTGTGG	0.428			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													181.0	173.0	176.0					12																	404772		1925	4133	6058	-	-	-	SO:0001819	synonymous_variant	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4422A>C	12.37:g.404772T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.P1474	ENST00000399788.2	37	c.4422	CCDS41736.1	12																																																																																			KDM5A	-	NULL	ENSG00000073614		0.428	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	492	0.00	0	T	NM_005056		404772	404772	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	silent	398	13.26	61	SNP	0.998	G
KDM6A	7403	genome.wustl.edu	37	X	44949989	44949989	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:44949989T>G	ENST00000377967.4	+	26	3799	c.3758T>G	c.(3757-3759)gTg>gGg	p.V1253G	KDM6A_ENST00000382899.4_Missense_Mutation_p.V1260G|KDM6A_ENST00000543216.1_Missense_Mutation_p.V1174G|KDM6A_ENST00000536777.1_Missense_Mutation_p.V1208G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1253	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAATTGGCAGTGGAACGGTAC	0.393			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											137.0	114.0	122.0					X																	44949989		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3758T>G	X.37:g.44949989T>G	ENSP00000367203:p.Val1253Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1260G	ENST00000377967.4	37	c.3779	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.50|19.50	3.838518|3.838518	0.71373|0.71373	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.72615	.|-0.67;-0.67;-0.67;-0.67	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81138|0.81138	0.4760|0.4760	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;0.999;0.995;0.992;1.0	.|D;D;D;D;D	.|0.85130	.|0.987;0.994;0.964;0.922;0.997	T|T	0.83078|0.83078	-0.0139|-0.0139	5|10	.|0.87932	.|D	.|0	-9.6365|-9.6365	14.8446|14.8446	0.70251|0.70251	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|892;1260;1208;1305;1253	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	R|G	850;895|950;1253;1208;1260;1174	.|ENSP00000367203:V1253G;ENSP00000437405:V1208G;ENSP00000372355:V1260G;ENSP00000443078:V1174G	.|ENSP00000334340:V950G	S|V	+|+	3|2	2|0	KDM6A|KDM6A	44834933|44834933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	1.887000|1.887000	0.54652|0.54652	0.430000|0.430000	0.28490|0.28490	AGT|GTG	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.393	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	101	0.97	1	T	NM_021140		44949989	44949989	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	missense	105	18.60	24	SNP	1.000	G
KEL	3792	genome.wustl.edu	37	7	142658954	142658954	+	Silent	SNP	A	A	C	rs8175960	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142658954A>C	ENST00000355265.2	-	2	483	c.9T>G	c.(7-9)ggT>ggG	p.G3G	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	3					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G3G(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTTGGTCCCCACCTTCCTGAA	0.547																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											183.0	156.0	165.0					7																	142658954		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.9T>G	7.37:g.142658954A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N	p.W14G	ENST00000355265.2	37	c.40	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	A	2.553	-0.303672	0.05495	.	.	ENSG00000197993	ENST00000460479	.	.	.	4.51	0.681	0.17986	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-0.3547	5.1562	0.15036	0.5226:0.3776:0.0997:0.0	.	.	.	.	G	14	.	.	W	-	1	0	KEL	142369076	0.087000	0.21565	0.001000	0.08648	0.002000	0.02628	0.255000	0.18333	-0.026000	0.13895	-1.221000	0.01599	TGG	KEL	-	NULL	ENSG00000197993		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2	357	0.28	1	A	NM_000420		142658954	142658954	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000460479	ensembl	human	novel	69_37n	missense	614	15.54	113	SNP	0.015	C
KHDRBS3	10656	genome.wustl.edu	37	8	136594200	136594200	+	Missense_Mutation	SNP	A	A	C	rs201184278		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:136594200A>C	ENST00000355849.5	+	6	1101	c.691A>C	c.(691-693)Acc>Ccc	p.T231P	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	231	Interaction with SIAH1.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGTCCTGTCCACCCGAGGGCC	0.602																																						dbGAP											0													66.0	65.0	66.0					8																	136594200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.691A>C	8.37:g.136594200A>C	ENSP00000348108:p.Thr231Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUL8|Q9UPA8	Missense_Mutation	SNP	smart_KH_dom	p.T231P	ENST00000355849.5	37	c.691	CCDS6374.1	8	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484126	0.26598	.	.	ENSG00000131773	ENST00000355849;ENST00000524199	T	0.44482	0.92	6.07	4.9	0.64082	.	0.595579	0.12772	U	0.440417	T	0.26991	0.0661	N	0.24115	0.695	0.58432	D	0.999999	B;B	0.26258	0.039;0.145	B;B	0.25884	0.059;0.064	T	0.06499	-1.0823	10	0.24483	T	0.36	-11.7327	6.0737	0.19903	0.7652:0.0:0.0753:0.1595	.	231;231	O75525-2;O75525	.;KHDR3_HUMAN	P	231;203	ENSP00000348108:T231P	ENSP00000348108:T231P	T	+	1	0	KHDRBS3	136663382	0.031000	0.19500	0.908000	0.35775	0.364000	0.29643	1.467000	0.35321	1.089000	0.41292	0.528000	0.53228	ACC	KHDRBS3	-	NULL	ENSG00000131773		0.602	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	79	0.00	0	A			136594200	136594200	+1	no_errors	ENST00000355849	ensembl	human	known	69_37n	missense	67	23.86	21	SNP	0.820	C
KHK	3795	genome.wustl.edu	37	2	27322065	27322065	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27322065T>G	ENST00000260599.6	+	6	1079	c.566T>G	c.(565-567)gTg>gGg	p.V189G	KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000260598.5_Splice_Site_p.V189G	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	189					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACAGGTGTTTGTCAGC	0.552											OREG0014514	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													112.0	114.0	113.0					2																	27322065		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.565-1T>G	2.37:g.27322065T>G		Somatic	793	WXS	Illumina GAIIx	Phase_IV	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	pfam_PfkB	p.V189G	ENST00000260599.6	37	c.566	CCDS1734.1	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606951	0.87157	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.80123	-1.34;-1.34;-0.31	5.47	5.47	0.80525	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.996;1.0;0.984;1.0	D	0.93034	0.6451	10	0.87932	D	0	.	13.5012	0.61457	0.0:0.0:0.0:1.0	.	189;189;189;189	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	G	189;189;234	ENSP00000260599:V189G;ENSP00000260598:V189G;ENSP00000404741:V234G	ENSP00000260598:V189G	V	+	2	0	KHK	27175569	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.367000	0.79558	2.067000	0.61834	0.459000	0.35465	GTG	KHK	-	pfam_PfkB	ENSG00000138030		0.552	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	40	0.00	0	T		Missense_Mutation	27322065	27322065	+1	no_errors	ENST00000260598	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	1.000	G
KIAA0020	9933	genome.wustl.edu	37	9	2837292	2837292	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:2837292A>C	ENST00000397885.2	-	3	398	c.192T>G	c.(190-192)ggT>ggG	p.G64G		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	64						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACTGCTTTACACCCTTTTTCC	0.388																																						dbGAP											0													267.0	245.0	252.0					9																	2837292		1840	4102	5942	-	-	-	SO:0001819	synonymous_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.192T>G	9.37:g.2837292A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.G64	ENST00000397885.2	37	c.192	CCDS6448.2	9																																																																																			KIAA0020	-	NULL	ENSG00000080608		0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	345	0.29	1	A	NM_014878		2837292	2837292	-1	no_errors	ENST00000397885	ensembl	human	known	69_37n	silent	281	10.69	34	SNP	0.991	C
KIAA0100	9703	genome.wustl.edu	37	17	26943634	26943634	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:26943634A>C	ENST00000528896.2	-	35	6232		c.e35+1		RP11-192H23.4_ENST00000534850.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000389003.3_Splice_Site|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000544884.1_Splice_Site|RP11-192H23.4_ENST00000577790.1_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAAAGTTCTCACCAGTAGTCA	0.463																																						dbGAP											0													171.0	176.0	174.0					17																	26943634		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6157+1T>G	17.37:g.26943634A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Splice_Site	SNP	-	e35+2	ENST00000528896.2	37	c.6157+2	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759800	0.69763	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6847	0.77400	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0100	23967761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.809000	0.91944	2.343000	0.79666	0.533000	0.62120	.	KIAA0100	-	-	ENSG00000007202		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	255	0.00	0	A	NM_014680	Intron	26943634	26943634	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	splice_site	221	11.24	28	SNP	1.000	C
KIAA0141	9812	genome.wustl.edu	37	5	141309165	141309165	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:141309165T>C	ENST00000432126.2	+	5	565	c.431T>C	c.(430-432)cTc>cCc	p.L144P	KIAA0141_ENST00000194118.4_Missense_Mutation_p.L144P	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	144					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACACATCCTCCCCAGCCCC	0.617																																						dbGAP											0													69.0	72.0	71.0					5																	141309165		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.431T>C	5.37:g.141309165T>C	ENSP00000396225:p.Leu144Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969R4|Q96EU9	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.L144P	ENST00000432126.2	37	c.431	CCDS4268.1	5	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089793	0.36855	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.30981	2.01;2.01;1.51	4.34	4.34	0.51931	.	0.406179	0.20186	N	0.097410	T	0.50463	0.1617	M	0.66939	2.045	0.58432	D	0.999994	D	0.71674	0.998	D	0.81914	0.995	T	0.51957	-0.8639	10	0.72032	D	0.01	-14.9216	9.8165	0.40856	0.0:0.0:0.0:1.0	.	144	Q14154	DELE_HUMAN	P	144	ENSP00000396225:L144P;ENSP00000194118:L144P;ENSP00000422686:L144P	ENSP00000194118:L144P	L	+	2	0	KIAA0141	141289349	0.577000	0.26708	0.983000	0.44433	0.115000	0.19883	2.956000	0.49129	1.820000	0.53075	0.254000	0.18369	CTC	KIAA0141	-	NULL	ENSG00000081791		0.617	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2	34	0.00	0	T	NM_014773		141309165	141309165	+1	no_errors	ENST00000194118	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.994	C
KIAA0141	9812	genome.wustl.edu	37	5	141318278	141318278	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:141318278A>C	ENST00000432126.2	+	12	1636	c.1502A>C	c.(1501-1503)cAc>cCc	p.H501P	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H501P	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	501					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCCCCACACCCCTACCCA	0.587																																						dbGAP											0													83.0	85.0	84.0					5																	141318278		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1502A>C	5.37:g.141318278A>C	ENSP00000396225:p.His501Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969R4|Q96EU9	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.H501P	ENST00000432126.2	37	c.1502	CCDS4268.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.245|3.245	-0.154533|-0.154533	0.06544|0.06544	.|.	.|.	ENSG00000081791|ENSG00000081791	ENST00000432126;ENST00000194118|ENST00000507481	T;T|.	0.11712|.	2.75;2.75|.	3.56|3.56	-0.352|-0.352	0.12598|0.12598	.|.	0.870346|.	0.10052|.	N|.	0.722157|.	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.22706|.	T|.	0.39|.	.|.	1.3005|1.3005	0.02078|0.02078	0.5263:0.1806:0.1203:0.1728|0.5263:0.1806:0.1203:0.1728	.|.	501|.	Q14154|.	DELE_HUMAN|.	P|P	501|203	ENSP00000396225:H501P;ENSP00000194118:H501P|.	ENSP00000194118:H501P|.	H|T	+|+	2|1	0|0	KIAA0141|KIAA0141	141298462|141298462	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.061000|-0.061000	0.11693|0.11693	-0.272000|-0.272000	0.09259|0.09259	-1.256000|-1.256000	0.01477|0.01477	CAC|ACC	KIAA0141	-	NULL	ENSG00000081791		0.587	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2	250	0.40	1	A	NM_014773		141318278	141318278	+1	no_errors	ENST00000194118	ensembl	human	known	69_37n	missense	174	17.14	36	SNP	0.000	C
KIAA0226L	80183	genome.wustl.edu	37	13	46942904	46942904	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:46942904T>G	ENST00000429979.1	-	4	1186	c.582A>C	c.(580-582)tcA>tcC	p.S194S	KIAA0226L_ENST00000378781.3_Silent_p.S194S|KIAA0226L_ENST00000389908.3_Silent_p.S194S|KIAA0226L_ENST00000378797.2_Silent_p.S194S|KIAA0226L_ENST00000322896.6_Silent_p.S37S|KIAA0226L_ENST00000409879.2_Silent_p.S37S|KIAA0226L_ENST00000378784.4_Silent_p.S127S|KIAA0226L_ENST00000378787.3_Silent_p.S194S|KIAA0226L_ENST00000534925.1_Silent_p.S59S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	194										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATACCTCTGGTGAGAAGGAAT	0.363																																						dbGAP											0													142.0	144.0	143.0					13																	46942904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.582A>C	13.37:g.46942904T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.S194	ENST00000429979.1	37	c.582	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL	ENSG00000102445		0.363	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	227	0.00	0	T	NM_025113		46942904	46942904	-1	no_errors	ENST00000389908	ensembl	human	known	69_37n	silent	176	13.30	27	SNP	0.112	G
KIAA0247	9766	genome.wustl.edu	37	14	70125403	70125403	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:70125403A>C	ENST00000342745.4	+	2	407	c.94A>C	c.(94-96)Acc>Ccc	p.T32P		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	32						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GATCCTTTGCACCCTGCTTGG	0.507																																						dbGAP											0													243.0	186.0	205.0					14																	70125403		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.94A>C	14.37:g.70125403A>C	ENSP00000344424:p.Thr32Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T32P	ENST00000342745.4	37	c.94	CCDS9796.1	14	.	.	.	.	.	.	.	.	.	.	A	12.67	2.009039	0.35415	.	.	ENSG00000100647	ENST00000342745	T	0.65916	-0.18	6.06	2.28	0.28536	.	0.617130	0.17356	N	0.177220	T	0.39860	0.1094	N	0.14661	0.345	0.21184	N	0.999766	B	0.32968	0.392	B	0.34991	0.193	T	0.20107	-1.0285	10	0.35671	T	0.21	-5.9848	4.4475	0.11604	0.6983:0.0:0.1577:0.144	.	32	Q92537	K0247_HUMAN	P	32	ENSP00000344424:T32P	ENSP00000344424:T32P	T	+	1	0	KIAA0247	69195156	0.953000	0.32496	0.996000	0.52242	0.757000	0.42996	1.294000	0.33365	0.139000	0.18822	-0.341000	0.08007	ACC	KIAA0247	-	NULL	ENSG00000100647		0.507	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0247	HGNC	protein_coding	OTTHUMT00000412453.1	151	0.00	0	A	NM_014734		70125403	70125403	+1	no_errors	ENST00000342745	ensembl	human	known	69_37n	missense	100	16.53	20	SNP	1.000	C
AREL1	9870	genome.wustl.edu	37	14	75142442	75142442	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75142442A>C	ENST00000356357.4	-	8	1555	c.1040T>G	c.(1039-1041)gTg>gGg	p.V347G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	347					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGGTTTCTTCACCTTCTCAGG	0.522																																						dbGAP											0													242.0	247.0	246.0					14																	75142442		2036	4204	6240	-	-	-	SO:0001583	missense	0			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1040T>G	14.37:g.75142442A>C	ENSP00000348714:p.Val347Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Splice_Site	SNP	-	e2+2	ENST00000356357.4	37	c.281+2	CCDS41971.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.271010|4.271010	0.80469|0.80469	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.46063	.|0.88;0.88	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.113577	.|0.64402	.|D	.|0.000012	.|T	.|0.51007	.|0.1649	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;B	.|0.69078	.|0.997;0.339	.|P;B	.|0.59288	.|0.855;0.048	.|T	.|0.39143	.|-0.9628	.|10	.|0.27082	.|T	.|0.32	.|.	16.3593|16.3593	0.83251|0.83251	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|347;347	.|O15033-2;O15033	.|.;K0317_HUMAN	.|G	-1|347;186;186	.|ENSP00000348714:V347G;ENSP00000452101:V186G	.|ENSP00000348714:V347G	.|V	-|-	.|2	.|0	KIAA0317|KIAA0317	74212195|74212195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.062000|9.062000	0.93920|0.93920	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	.|GTG	KIAA0317	-	-	ENSG00000119682		0.522	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	352	0.28	1	A	NM_014821		75142442	75142442	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000490805	ensembl	human	novel	69_37n	splice_site	250	11.62	33	SNP	1.000	C
AREL1	9870	genome.wustl.edu	37	14	75142455	75142455	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75142455T>G	ENST00000356357.4	-	8	1542	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	343					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTCAGGGGTGTGGCACTCA	0.547																																						dbGAP											0													217.0	225.0	222.0					14																	75142455		2062	4214	6276	-	-	-	SO:0001583	missense	0			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1027A>C	14.37:g.75142455T>G	ENSP00000348714:p.Thr343Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.T343P	ENST00000356357.4	37	c.1027	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364789	0.82463	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.50277	0.75;0.75	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	L	0.40543	1.245	0.54753	D	0.999989	D;P	0.69078	0.997;0.666	D;B	0.75484	0.986;0.13	T	0.53215	-0.8470	10	0.22706	T	0.39	.	16.3593	0.83251	0.0:0.0:0.0:1.0	.	343;343	O15033-2;O15033	.;K0317_HUMAN	P	343;182;182	ENSP00000348714:T343P;ENSP00000452101:T182P	ENSP00000348714:T343P	T	-	1	0	KIAA0317	74212208	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.099000	0.57755	2.267000	0.75376	0.383000	0.25322	ACC	KIAA0317	-	NULL	ENSG00000119682		0.547	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	326	0.00	0	T	NM_014821		75142455	75142455	-1	no_errors	ENST00000356357	ensembl	human	known	69_37n	missense	233	12.73	34	SNP	1.000	G
KIAA0319L	79932	genome.wustl.edu	37	1	35972493	35972493	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:35972493A>C	ENST00000325722.3	-	3	620	c.386T>G	c.(385-387)gTg>gGg	p.V129G		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	129						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTAAAAACACCAGCATGGA	0.493																																						dbGAP											0													66.0	74.0	72.0					1																	35972493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.386T>G	1.37:g.35972493A>C	ENSP00000318406:p.Val129Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.V129G	ENST00000325722.3	37	c.386	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	A	9.877	1.200525	0.22121	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948	T;T;T;T;T	0.51817	3.09;3.09;2.55;1.3;0.69	5.78	3.36	0.38483	.	0.368944	0.22633	N	0.057553	T	0.30634	0.0771	N	0.19112	0.55	0.46336	D	0.998993	B;B;B	0.23249	0.082;0.049;0.0	B;B;B	0.25140	0.058;0.018;0.001	T	0.14420	-1.0473	10	0.87932	D	0	-3.3259	6.4486	0.21890	0.763:0.1574:0.0797:0.0	.	129;129;129	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	G	129	ENSP00000318406:V129G;ENSP00000395883:V129G;ENSP00000407576:V129G;ENSP00000362355:V129G;ENSP00000419396:V129G	ENSP00000318406:V129G	V	-	2	0	KIAA0319L	35745080	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	3.068000	0.50018	1.022000	0.39626	0.533000	0.62120	GTG	KIAA0319L	-	NULL	ENSG00000142687		0.493	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	141	0.70	1	A	NM_024874		35972493	35972493	-1	no_errors	ENST00000325722	ensembl	human	known	69_37n	missense	89	17.59	19	SNP	1.000	C
KIAA0368	23392	genome.wustl.edu	37	9	114159317	114159317	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:114159317T>G	ENST00000338205.5	-	24	2988	c.2769A>C	c.(2767-2769)ccA>ccC	p.P923P	KIAA0368_ENST00000259335.4_Silent_p.P1101P|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	929					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TACCAGCAGGTGGAGTATATT	0.398																																						dbGAP											0													125.0	123.0	124.0					9																	114159317		1885	4106	5991	-	-	-	SO:0001819	synonymous_variant	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2769A>C	9.37:g.114159317T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Silent	SNP	superfamily_ARM-type_fold	p.P1101	ENST00000338205.5	37	c.3303		9																																																																																			KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	146	0.68	1	T	NM_014686		114159317	114159317	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	silent	86	20.18	22	SNP	0.950	G
KIAA0368	23392	genome.wustl.edu	37	9	114173368	114173368	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:114173368A>C	ENST00000338205.5	-	21	2488	c.2269T>G	c.(2269-2271)Tat>Gat	p.Y757D	KIAA0368_ENST00000259335.4_Missense_Mutation_p.Y935D|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000374378.3_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	763					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTAGCCAAATACCTTCCCACC	0.443																																						dbGAP											0													270.0	255.0	260.0					9																	114173368		1922	4134	6056	-	-	-	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2269T>G	9.37:g.114173368A>C	ENSP00000339889:p.Tyr757Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y935D	ENST00000338205.5	37	c.2803		9	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241852	0.58995	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.64991	-0.13	5.08	5.08	0.68730	.	0.152170	0.46442	D	0.000291	T	0.61464	0.2349	M	0.68317	2.08	0.80722	D	1	B	0.23058	0.079	B	0.24006	0.05	T	0.59804	-0.7385	10	0.36615	T	0.2	-9.2629	14.8372	0.70192	1.0:0.0:0.0:0.0	.	232	B3KXF2	.	D	757;935;232	ENSP00000259335:Y935D	ENSP00000259335:Y935D	Y	-	1	0	KIAA0368	113213189	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.089000	0.64492	1.898000	0.54952	0.459000	0.35465	TAT	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.443	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	497	0.40	2	A	NM_014686		114173368	114173368	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	missense	363	14.49	62	SNP	1.000	C
KIAA0368	23392	genome.wustl.edu	37	9	114173376	114173376	+	Missense_Mutation	SNP	A	A	C	rs557447183		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:114173376A>C	ENST00000338205.5	-	21	2480	c.2261T>G	c.(2260-2262)gTg>gGg	p.V754G	KIAA0368_ENST00000259335.4_Missense_Mutation_p.V932G|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000374378.3_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	760					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATACCTTCCCACCGTGAATCC	0.443													A|||	0	0.0	0.0	0.0	5008	,	,		19371	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													260.0	246.0	251.0					9																	114173376		1916	4129	6045	-	-	-	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2261T>G	9.37:g.114173376A>C	ENSP00000339889:p.Val754Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V932G	ENST00000338205.5	37	c.2795		9	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476030	0.84640	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.68624	-0.34	5.3	5.3	0.74995	.	0.073236	0.56097	D	0.000037	T	0.70141	0.3190	M	0.64997	1.995	0.80722	D	1	B	0.32543	0.375	B	0.40565	0.333	T	0.73100	-0.4089	10	0.72032	D	0.01	-7.661	15.2357	0.73430	1.0:0.0:0.0:0.0	.	229	B3KXF2	.	G	754;932;229	ENSP00000259335:V932G	ENSP00000259335:V932G	V	-	2	0	KIAA0368	113213197	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.192000	0.89718	1.992000	0.58205	0.459000	0.35465	GTG	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.443	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	502	0.00	0	A	NM_014686		114173376	114173376	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	missense	380	10.56	45	SNP	1.000	C
KIAA0430	9665	genome.wustl.edu	37	16	15729751	15729751	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:15729751T>G	ENST00000396368.3	-	3	799	c.593A>C	c.(592-594)cAc>cCc	p.H198P	KIAA0430_ENST00000551742.1_Missense_Mutation_p.H198P|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H198P|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H198P|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H20P|KIAA0430_ENST00000602337.1_Missense_Mutation_p.H198P	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	198					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGACTGGAAGTGGAGTTTTCC	0.502																																						dbGAP											0													98.0	100.0	99.0					16																	15729751		2042	4194	6236	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.593A>C	16.37:g.15729751T>G	ENSP00000379654:p.His198Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H198P	ENST00000396368.3	37	c.593	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	T	17.48	3.401318	0.62288	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.62853	0.2462	L	0.29908	0.895	0.32639	N	0.520944	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998	D;D;D;D;D	0.83275	0.974;0.996;0.996;0.996;0.991	T	0.72364	-0.4316	9	0.87932	D	0	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	197;197;198;197;197	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	P	198;198;197;20;198;198;198	.	ENSP00000315718:H197P	H	-	2	0	KIAA0430	15637252	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.884000	0.56175	2.164000	0.68074	0.533000	0.62120	CAC	KIAA0430	-	NULL	ENSG00000166783		0.502	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	127	0.78	1	T	NM_014647		15729751	15729751	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	126	12.41	18	SNP	1.000	G
KIAA0430	9665	genome.wustl.edu	37	16	15729775	15729775	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:15729775T>G	ENST00000396368.3	-	3	775	c.569A>C	c.(568-570)cAc>cCc	p.H190P	KIAA0430_ENST00000551742.1_Missense_Mutation_p.H190P|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H190P|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H190P|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H12P|KIAA0430_ENST00000602337.1_Missense_Mutation_p.H190P	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	190					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACAGGGCAGGTGTTTGCAGGA	0.507																																						dbGAP											0													110.0	110.0	110.0					16																	15729775		2041	4198	6239	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.569A>C	16.37:g.15729775T>G	ENSP00000379654:p.His190Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H190P	ENST00000396368.3	37	c.569	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402432	0.25291	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.20577	0.0495	N	0.17082	0.46	0.24876	N	0.992256	B;B;B;B;B	0.33637	0.42;0.004;0.004;0.004;0.002	B;B;B;B;B	0.25506	0.061;0.013;0.013;0.013;0.006	T	0.16808	-1.0390	9	0.44086	T	0.13	.	10.2805	0.43537	0.0:0.0731:0.0:0.9269	.	189;189;190;189;189	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	P	190;190;189;12;190;190;190	.	ENSP00000315718:H189P	H	-	2	0	KIAA0430	15637276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.099000	0.50267	2.164000	0.68074	0.533000	0.62120	CAC	KIAA0430	-	NULL	ENSG00000166783		0.507	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	137	0.72	1	T	NM_014647		15729775	15729775	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	124	18.71	29	SNP	1.000	G
C2CD5	9847	genome.wustl.edu	37	12	22670987	22670987	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:22670987T>G	ENST00000333957.4	-	8	1140	c.885A>C	c.(883-885)tcA>tcC	p.S295S	C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000542676.1_Silent_p.S295S|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000446597.1_Silent_p.S295S|C2CD5_ENST00000540703.1_5'Flank	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	295					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACTTGGAAGGTGAAAAGGAAT	0.448																																						dbGAP											0													234.0	226.0	228.0					12																	22670987		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.885A>C	12.37:g.22670987T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	NULL	p.H98P	ENST00000333957.4	37	c.293	CCDS31758.1	12																																																																																			KIAA0528	-	NULL	ENSG00000111731		0.448	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0528	HGNC	protein_coding	OTTHUMT00000402257.1	219	0.00	0	T	NM_014802		22670987	22670987	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000542683	ensembl	human	known	69_37n	missense	167	12.95	25	SNP	1.000	G
C2CD5	9847	genome.wustl.edu	37	12	22697065	22697065	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:22697065A>C	ENST00000333957.4	-	2	275	c.20T>G	c.(19-21)gTg>gGg	p.V7G	C2CD5_ENST00000396028.2_Missense_Mutation_p.V7G|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.V7G|C2CD5_ENST00000545552.1_Missense_Mutation_p.V7G|C2CD5_ENST00000536386.1_Missense_Mutation_p.V7G|C2CD5_ENST00000446597.1_Missense_Mutation_p.V7G	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CACGATTTTCACCTTCAGCTT	0.612																																						dbGAP											0													161.0	122.0	136.0					12																	22697065		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.20T>G	12.37:g.22697065A>C	ENSP00000334229:p.Val7Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V7G	ENST00000333957.4	37	c.20	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057775	0.76074	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	4.17	2.98	0.34508	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.197620	0.43747	D	0.000538	T	0.81230	0.4779	H	0.97415	4	0.80722	D	1	D;D;D;P;D	0.63046	0.972;0.985;0.992;0.649;0.972	P;P;D;B;D	0.65874	0.844;0.905;0.938;0.234;0.939	D	0.83977	0.0330	10	0.87932	D	0	-11.1819	9.7729	0.40601	0.8452:0.0:0.0:0.1548	.	7;7;7;7;7	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	G	7	ENSP00000334229:V7G;ENSP00000388756:V7G;ENSP00000439392:V7G;ENSP00000379345:V7G;ENSP00000441951:V7G;ENSP00000443204:V7G	ENSP00000334229:V7G	V	-	2	0	KIAA0528	22588332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.534000	0.73833	0.718000	0.32166	0.482000	0.46254	GTG	KIAA0528	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000111731		0.612	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0528	HGNC	protein_coding	OTTHUMT00000402257.1	49	0.00	0	A	NM_014802		22697065	22697065	-1	no_errors	ENST00000333957	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	C
KIAA0586	9786	genome.wustl.edu	37	14	58965602	58965602	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:58965602A>C	ENST00000556134.1	+	28	4321	c.4047A>C	c.(4045-4047)ccA>ccC	p.P1349P	KIAA0586_ENST00000423743.3_Silent_p.P1320P|KIAA0586_ENST00000261244.5_Silent_p.P1288P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.P1417P	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1349					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATATGCAGCCACCTGTCACTA	0.413																																						dbGAP											0													81.0	73.0	76.0					14																	58965602		1902	4139	6041	-	-	-	SO:0001819	synonymous_variant	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4047A>C	14.37:g.58965602A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	NULL	p.P1349	ENST00000556134.1	37	c.4047	CCDS58321.1	14																																																																																			KIAA0586	-	NULL	ENSG00000100578		0.413	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1	59	0.00	0	A	NM_014749		58965602	58965602	+1	no_errors	ENST00000556134	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.297	C
KIAA0586	9786	genome.wustl.edu	37	14	59014500	59014500	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:59014500T>G	ENST00000556134.1	+	32	4726	c.4452T>G	c.(4450-4452)ggT>ggG	p.G1484G	KIAA0586_ENST00000423743.3_Splice_Site_p.G1455G|KIAA0586_ENST00000354386.6_Splice_Site_p.W1581G|KIAA0586_ENST00000261244.5_Splice_Site_p.G1423G	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1484					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTGTGCAGGTGGGAAAGCAG	0.532																																						dbGAP											0													77.0	78.0	78.0					14																	59014500		2053	4207	6260	-	-	-	SO:0001630	splice_region_variant	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4451-1T>G	14.37:g.59014500T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	NULL	p.W1581G	ENST00000556134.1	37	c.4741	CCDS58321.1	14	.	.	.	.	.	.	.	.	.	.	T	17.45	3.391581	0.62066	.	.	ENSG00000100578	ENST00000354386	T	0.47177	0.85	5.84	-4.61	0.03380	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.25222	-1.0138	7	.	.	.	.	0.4211	0.00456	0.2655:0.1471:0.2022:0.3852	.	1581	E7EWM8	.	G	1581	ENSP00000346359:W1581G	.	W	+	1	0	KIAA0586	58084253	0.841000	0.29509	0.671000	0.29857	0.138000	0.21146	-0.276000	0.08514	-0.436000	0.07254	0.397000	0.26171	TGG	KIAA0586	-	NULL	ENSG00000100578		0.532	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1	70	0.00	0	T	NM_014749	Silent	59014500	59014500	+1	no_errors	ENST00000354386	ensembl	human	putative	69_37n	missense	80	19.19	19	SNP	0.674	G
KIAA0753	9851	genome.wustl.edu	37	17	6483151	6483151	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6483151A>C	ENST00000361413.3	-	19	3178	c.2820T>G	c.(2818-2820)ggT>ggG	p.G940G	KIAA0753_ENST00000589033.1_Silent_p.G396G|KIAA0753_ENST00000572370.1_Silent_p.G641G|KIAA0753_ENST00000542606.1_Silent_p.G641G	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	940						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CAGCCACAGCACCCAGAGCTT	0.493																																						dbGAP											0													104.0	100.0	102.0					17																	6483151		1993	4185	6178	-	-	-	SO:0001819	synonymous_variant	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2820T>G	17.37:g.6483151A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	NULL	p.G940	ENST00000361413.3	37	c.2820	CCDS42247.1	17																																																																																			KIAA0753	-	NULL	ENSG00000198920		0.493	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	260	0.00	0	A	NM_014804		6483151	6483151	-1	no_errors	ENST00000361413	ensembl	human	known	69_37n	silent	226	12.36	32	SNP	0.031	C
KIAA0753	9851	genome.wustl.edu	37	17	6511767	6511767	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6511767A>C	ENST00000361413.3	-	10	2088	c.1730T>G	c.(1729-1731)gTg>gGg	p.V577G	KIAA0753_ENST00000589033.1_Missense_Mutation_p.V33G|KIAA0753_ENST00000575027.1_5'Flank|KIAA0753_ENST00000572370.1_Missense_Mutation_p.V278G|KIAA0753_ENST00000542606.1_Missense_Mutation_p.V278G	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	577						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTAGTTTTCACCTTTAGCCA	0.478																																						dbGAP											0													220.0	212.0	215.0					17																	6511767		1941	4143	6084	-	-	-	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1730T>G	17.37:g.6511767A>C	ENSP00000355250:p.Val577Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.V577G	ENST00000361413.3	37	c.1730	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	A	5.872	0.344975	0.11126	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.86865	-2.18;-2.18	5.06	-3.95	0.04118	.	1.094020	0.06882	N	0.802736	T	0.78553	0.4301	L	0.46157	1.445	0.35645	D	0.811299	B	0.13594	0.008	B	0.14578	0.011	T	0.61038	-0.7143	10	0.15952	T	0.53	-0.708	5.8917	0.18917	0.3863:0.3746:0.2391:0.0	.	577	Q2KHM9	K0753_HUMAN	G	577;278;33	ENSP00000355250:V577G;ENSP00000444634:V278G	ENSP00000355250:V577G	V	-	2	0	KIAA0753	6452491	0.729000	0.28090	0.208000	0.23602	0.228000	0.25075	0.029000	0.13666	-0.562000	0.06086	0.383000	0.25322	GTG	KIAA0753	-	NULL	ENSG00000198920		0.478	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	282	0.35	1	A	NM_014804		6511767	6511767	-1	no_errors	ENST00000361413	ensembl	human	known	69_37n	missense	201	18.55	46	SNP	0.231	C
KIAA0753	9851	genome.wustl.edu	37	17	6531850	6531850	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6531850T>G	ENST00000361413.3	-	3	663	c.305A>C	c.(304-306)cAc>cCc	p.H102P	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	102						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCTGGCTAGGTGGACAGCATA	0.413																																						dbGAP											0													126.0	115.0	119.0					17																	6531850		1900	4135	6035	-	-	-	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.305A>C	17.37:g.6531850T>G	ENSP00000355250:p.His102Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.H102P	ENST00000361413.3	37	c.305	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597390	0.66332	.	.	ENSG00000198920	ENST00000361413	T	0.09350	2.99	5.18	5.18	0.71444	.	0.272209	0.38436	N	0.001692	T	0.26991	0.0661	M	0.73962	2.25	0.80722	D	1	P	0.52061	0.95	P	0.55455	0.776	T	0.01114	-1.1447	10	0.62326	D	0.03	-9.1652	13.6312	0.62196	0.0:0.0:0.0:1.0	.	102	Q2KHM9	K0753_HUMAN	P	102	ENSP00000355250:H102P	ENSP00000355250:H102P	H	-	2	0	KIAA0753	6472574	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.419000	0.44671	2.259000	0.74868	0.528000	0.53228	CAC	KIAA0753	-	NULL	ENSG00000198920		0.413	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	177	0.00	0	T	NM_014804		6531850	6531850	-1	no_errors	ENST00000361413	ensembl	human	known	69_37n	missense	117	13.14	18	SNP	1.000	G
KIAA0895L	653319	genome.wustl.edu	37	16	67210838	67210838	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:67210838A>C	ENST00000290881.7	-	8	2218	c.1292T>G	c.(1291-1293)gTg>gGg	p.V431G	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V431G|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561621.1_3'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	431										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						ATTATCCAGCACCCCATGGGG	0.632																																						dbGAP											0													73.0	79.0	77.0					16																	67210838		2038	4211	6249	-	-	-	SO:0001583	missense	0			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1292T>G	16.37:g.67210838A>C	ENSP00000290881:p.Val431Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	pfam_DUF1704	p.V431G	ENST00000290881.7	37	c.1292	CCDS42177.1	16	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607149	0.66558	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.59	3.43	0.39272	.	0.258488	0.37348	N	0.002138	T	0.61248	0.2332	M	0.71581	2.175	0.80722	D	1	P;P	0.50528	0.661;0.936	P;P	0.53401	0.579;0.725	T	0.58769	-0.7578	9	0.25106	T	0.35	-20.7734	6.8536	0.24028	0.6869:0.0:0.0:0.3131	.	431;276	Q68EN5;Q68EN5-3	K895L_HUMAN;.	G	431	.	ENSP00000290881:V431G	V	-	2	0	KIAA0895L	65768339	0.918000	0.31147	1.000000	0.80357	0.998000	0.95712	3.137000	0.50562	1.937000	0.56155	0.454000	0.30748	GTG	KIAA0895L	-	pfam_DUF1704	ENSG00000196123		0.632	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0895L	HGNC	protein_coding	OTTHUMT00000421193.4	134	0.73	1	A	NM_001040715		67210838	67210838	-1	no_errors	ENST00000290881	ensembl	human	known	69_37n	missense	72	21.28	20	SNP	0.992	C
ZSWIM8	23053	genome.wustl.edu	37	10	75557188	75557188	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:75557188A>C	ENST00000605216.1	+	18	3689	c.3472A>C	c.(3472-3474)Acc>Ccc	p.T1158P	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T1158P|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.T1163P|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T1163P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T1125P|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1158	Ser-rich.						zinc ion binding (GO:0008270)										TAGTTCCCCCACCTTAAGCCG	0.587																																						dbGAP											0													68.0	71.0	70.0					10																	75557188		2003	4164	6167	-	-	-	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3472A>C	10.37:g.75557188A>C	ENSP00000474748:p.Thr1158Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.T1163P	ENST00000605216.1	37	c.3487		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.15|16.15	3.040712|3.040712	0.55003|0.55003	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.50001	.|0.76	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.327366	.|0.26742	.|U	.|0.022734	T|T	0.65575|0.65575	0.2704|0.2704	M|M	0.64997|0.64997	1.995|1.995	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.999;0.999	.|D;D;D;D	.|0.78314	.|0.991;0.973;0.991;0.991	T|T	0.64871|0.64871	-0.6305|-0.6305	5|10	.|0.40728	.|T	.|0.16	-8.4508|-8.4508	15.5129|15.5129	0.75798|0.75798	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1158;1170;1158;1163	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	P|P	873|1163	.|ENSP00000381693:T1163P	.|ENSP00000381693:T1163P	H|T	+|+	2|1	0|0	KIAA0913|KIAA0913	75227194|75227194	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.444000|0.444000	0.32077|0.32077	8.763000|8.763000	0.91715|0.91715	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	CAC|ACC	KIAA0913	-	NULL	ENSG00000214655		0.587	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	65	0.00	0	A	NM_001242487		75557188	75557188	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	missense	67	20.24	17	SNP	0.998	C
ICE1	23379	genome.wustl.edu	37	5	5461350	5461350	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:5461350A>C	ENST00000296564.7	+	13	2125	c.1903A>C	c.(1903-1905)Acc>Ccc	p.T635P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		635					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCCTCTTCTACCTTGGTAGC	0.413																																						dbGAP											0													100.0	100.0	100.0					5																	5461350		1893	4126	6019	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.1903A>C	5.37:g.5461350A>C	ENSP00000296564:p.Thr635Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.T635P	ENST00000296564.7	37	c.1903	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562548	0.27915	.	.	ENSG00000164151	ENST00000296564	T	0.10763	2.84	4.94	-9.88	0.00467	.	1.666080	0.02899	N	0.135161	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	10	0.34782	T	0.22	-0.1576	1.5833	0.02638	0.329:0.352:0.1606:0.1585	.	635	Q9Y2F5	K0947_HUMAN	P	635	ENSP00000296564:T635P	ENSP00000296564:T635P	T	+	1	0	KIAA0947	5514350	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.408000	0.07169	-1.785000	0.01271	-0.756000	0.03474	ACC	KIAA0947	-	NULL	ENSG00000164151		0.413	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	166	0.60	1	A			5461350	5461350	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	193	18.91	45	SNP	0.001	C
KIAA1024	23251	genome.wustl.edu	37	15	79750602	79750602	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:79750602A>C	ENST00000305428.3	+	2	2188	c.2113A>C	c.(2113-2115)Acc>Ccc	p.T705P		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	705						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAGCCTCTTCACCAGGCCATC	0.537																																						dbGAP											0													109.0	105.0	107.0					15																	79750602		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2113A>C	15.37:g.79750602A>C	ENSP00000307461:p.Thr705Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.T705P	ENST00000305428.3	37	c.2113	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	7.594	0.671329	0.14776	.	.	ENSG00000169330	ENST00000305428	T	0.33865	1.39	5.68	-3.55	0.04639	.	0.355080	0.32671	N	0.005795	T	0.27278	0.0669	M	0.65975	2.015	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17471	-1.0368	9	.	.	.	.	6.2034	0.20590	0.4395:0.3444:0.2161:0.0	.	705	Q9UPX6	K1024_HUMAN	P	705	ENSP00000307461:T705P	.	T	+	1	0	KIAA1024	77537657	0.390000	0.25213	0.120000	0.21714	0.541000	0.35023	1.237000	0.32695	-0.964000	0.03595	-0.290000	0.09829	ACC	KIAA1024	-	NULL	ENSG00000169330		0.537	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	191	0.52	1	A	NM_015206		79750602	79750602	+1	no_errors	ENST00000305428	ensembl	human	known	69_37n	missense	182	12.50	26	SNP	0.001	C
KIAA1109	84162	genome.wustl.edu	37	4	123255664	123255664	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:123255664A>C	ENST00000264501.4	+	69	12185	c.11812A>C	c.(11812-11814)Acc>Ccc	p.T3938P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T3938P			Q2LD37	K1109_HUMAN	KIAA1109	3938					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAGACTAACACCTTACTTCC	0.398																																						dbGAP											0													133.0	133.0	133.0					4																	123255664		1939	4121	6060	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11812A>C	4.37:g.123255664A>C	ENSP00000264501:p.Thr3938Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.T3938P	ENST00000264501.4	37	c.11812	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472859	0.43942	.	.	ENSG00000138688	ENST00000264501;ENST00000388738	T;T	0.15139	2.45;2.45	5.34	4.11	0.48088	.	0.187454	0.36101	N	0.002793	T	0.12603	0.0306	N	0.22421	0.69	0.80722	D	1	B	0.32693	0.38	B	0.34991	0.193	T	0.08126	-1.0737	10	0.72032	D	0.01	.	9.533	0.39205	0.5964:0.0:0.0:0.4036	.	3938	Q2LD37	K1109_HUMAN	P	3938	ENSP00000264501:T3938P;ENSP00000373390:T3938P	ENSP00000264501:T3938P	T	+	1	0	KIAA1109	123475114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.463000	0.60128	0.915000	0.36847	0.528000	0.53228	ACC	KIAA1109	-	NULL	ENSG00000138688		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	156	0.00	0	A	NM_020797		123255664	123255664	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	107	18.94	25	SNP	1.000	C
KIAA1210	57481	genome.wustl.edu	37	X	118221102	118221102	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:118221102T>G	ENST00000402510.2	-	11	4090	c.4091A>C	c.(4090-4092)cAc>cCc	p.H1364P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1364										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAAGGCAGGTGCTTCTCACC	0.463																																						dbGAP											0													179.0	172.0	174.0					X																	118221102		1971	4137	6108	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4091A>C	X.37:g.118221102T>G	ENSP00000384670:p.His1364Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.H1364P	ENST00000402510.2	37	c.4091	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	T	9.027	0.986362	0.18889	.	.	ENSG00000250423	ENST00000402510	T	0.14893	2.47	4.1	-3.21	0.05140	.	.	.	.	.	T	0.08223	0.0205	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.33369	-0.9871	9	0.35671	T	0.21	.	3.0229	0.06082	0.1486:0.1:0.4894:0.262	.	1364	Q9ULL0	K1210_HUMAN	P	1364	ENSP00000384670:H1364P	ENSP00000384670:H1364P	H	-	2	0	RP13-347D8.6	118105130	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.961000	0.01516	-0.746000	0.04766	0.356000	0.21956	CAC	KIAA1210	-	NULL	ENSG00000250423		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	516	0.39	2	T	NM_020721		118221102	118221102	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	276	14.24	46	SNP	0.000	G
KIAA1211L	343990	genome.wustl.edu	37	2	99449368	99449368	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:99449368A>C	ENST00000397899.2	-	4	663	c.332T>G	c.(331-333)gTg>gGg	p.V111G	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	111																	TTGGGAAAACACCCGCACAGG	0.517																																						dbGAP											0													182.0	191.0	188.0					2																	99449368		1913	4140	6053	-	-	-	SO:0001583	missense	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.332T>G	2.37:g.99449368A>C	ENSP00000380996:p.Val111Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V111G	ENST00000397899.2	37	c.332	CCDS42720.1	2	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610324	0.46527	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.47528	0.84	4.82	4.82	0.62117	.	0.000000	0.42548	D	0.000695	T	0.59555	0.2202	L	0.41236	1.265	0.48288	D	0.999627	D	0.89917	1.0	D	0.91635	0.999	T	0.62937	-0.6748	10	0.72032	D	0.01	-17.4012	13.7272	0.62765	1.0:0.0:0.0:0.0	.	111	Q6NV74	CB055_HUMAN	G	111;139;125;125	ENSP00000380996:V111G	ENSP00000380996:V111G	V	-	2	0	C2orf55	98815800	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	6.576000	0.74023	2.013000	0.59113	0.459000	0.35465	GTG	KIAA1211L	-	NULL	ENSG00000196872		0.517	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	231	0.00	0	A	NM_207362		99449368	99449368	-1	no_errors	ENST00000397899	ensembl	human	known	69_37n	missense	174	23.01	52	SNP	0.998	C
KIAA1211L	343990	genome.wustl.edu	37	2	99463247	99463247	+	Missense_Mutation	SNP	A	A	C	rs201132952		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:99463247A>C	ENST00000397899.2	-	2	348	c.17T>G	c.(16-18)gTg>gGg	p.V6G	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	6																	AATGTCCATCACCCTTGTGGA	0.488																																						dbGAP											0													99.0	98.0	98.0					2																	99463247		1979	4157	6136	-	-	-	SO:0001583	missense	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.17T>G	2.37:g.99463247A>C	ENSP00000380996:p.Val6Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V6G	ENST00000397899.2	37	c.17	CCDS42720.1	2	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098822	0.37048	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261;ENST00000420294	T	0.50001	0.76	5.41	5.41	0.78517	.	.	.	.	.	T	0.59432	0.2193	L	0.44542	1.39	0.43942	D	0.996607	D	0.89917	1.0	D	0.76575	0.988	T	0.62153	-0.6914	9	0.87932	D	0	-17.4412	11.7487	0.51837	1.0:0.0:0.0:0.0	.	6	Q6NV74	CB055_HUMAN	G	6;34;20;20;20	ENSP00000380996:V6G	ENSP00000380996:V6G	V	-	2	0	C2orf55	98829679	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.053000	0.41326	2.276000	0.75962	0.454000	0.30748	GTG	KIAA1211L	-	NULL	ENSG00000196872		0.488	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	100	0.00	0	A	NM_207362		99463247	99463247	-1	no_errors	ENST00000397899	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	1.000	C
KIAA1217	56243	genome.wustl.edu	37	10	24834959	24834959	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:24834959A>C	ENST00000376454.3	+	21	5568	c.5538A>C	c.(5536-5538)ccA>ccC	p.P1846P	KIAA1217_ENST00000376452.3_Silent_p.P1277P|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.P1252P|KIAA1217_ENST00000376462.1_Silent_p.P1167P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1846	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAACAGGACCACCTGCTCACT	0.498																																						dbGAP											0													192.0	198.0	196.0					10																	24834959		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5538A>C	10.37:g.24834959A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.P1846	ENST00000376454.3	37	c.5538	CCDS31165.1	10																																																																																			KIAA1217	-	NULL	ENSG00000120549		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	335	0.89	3	A	NM_019590		24834959	24834959	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	silent	310	20.51	80	SNP	0.012	C
KIAA1324	57535	genome.wustl.edu	37	1	109740604	109740604	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109740604T>G	ENST00000369939.3	+	17	2489	c.2306T>G	c.(2305-2307)gTg>gGg	p.V769G	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.V682G	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	769					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TTGGCAGGGGTGACAACAGAT	0.448																																						dbGAP											0													96.0	95.0	95.0					1																	109740604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2306T>G	1.37:g.109740604T>G	ENSP00000358955:p.Val769Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.V769G	ENST00000369939.3	37	c.2306	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319277	0.81469	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.04015	3.73;3.73;3.73	5.93	5.93	0.95920	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.989;0.989	D;D;P;P	0.72625	0.941;0.978;0.907;0.907	T	0.00389	-1.1770	10	0.87932	D	0	-14.636	13.903	0.63817	0.0:0.0:0.0:1.0	.	769;682;769;769	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	G	769;719;682	ENSP00000358955:V769G;ENSP00000393964:V719G;ENSP00000434595:V682G	ENSP00000358955:V769G	V	+	2	0	KIAA1324	109542127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	2.271000	0.75665	0.533000	0.62120	GTG	KIAA1324	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000116299		0.448	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	102	0.97	1	T	NM_020775		109740604	109740604	+1	no_errors	ENST00000369939	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	1.000	G
KIAA1324L	222223	genome.wustl.edu	37	7	86548595	86548595	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:86548595A>C	ENST00000450689.2	-	11	1616	c.1431T>G	c.(1429-1431)agT>agG	p.S477R	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S310R|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S237R|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S477R	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	477						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTCCAGCCCCACTCTGGATAT	0.333																																						dbGAP											0													69.0	68.0	69.0					7																	86548595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1431T>G	7.37:g.86548595A>C	ENSP00000413445:p.Ser477Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.S477R	ENST00000450689.2	37	c.1431	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.65|19.65	3.867433|3.867433	0.72065|0.72065	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75635|0.75635	0.3876|0.3876	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.996;0.999;0.999|.	D;D;D|.	0.68192|.	0.953;0.956;0.956|.	T|T	0.75701|0.75701	-0.3226|-0.3226	10|5	0.46703|.	T|.	0.11|.	.|.	15.8241|15.8241	0.78683|0.78683	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	477;237;310|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	R|G	477;237;477;310|438	ENSP00000413445:S477R;ENSP00000297222:S237R;ENSP00000397377:S477R;ENSP00000402390:S310R|.	ENSP00000297222:S237R|.	S|W	-|-	3|1	2|0	KIAA1324L|KIAA1324L	86386531|86386531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.458000|2.458000	0.45014|0.45014	2.330000|2.330000	0.79161|0.79161	0.533000|0.533000	0.62120|0.62120	AGT|TGG	KIAA1324L	-	superfamily_Growth_fac_rcpt	ENSG00000164659		0.333	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	210	0.47	1	A	NM_152748		86548595	86548595	-1	no_errors	ENST00000450689	ensembl	human	known	69_37n	missense	157	11.80	21	SNP	1.000	C
KIAA1328	57536	genome.wustl.edu	37	18	34753007	34753007	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:34753007A>C	ENST00000280020.5	+	9	1508	c.1486A>C	c.(1486-1488)Acc>Ccc	p.T496P	KIAA1328_ENST00000543923.1_Missense_Mutation_p.T388P|KIAA1328_ENST00000586135.1_Missense_Mutation_p.T248P|KIAA1328_ENST00000591619.1_Missense_Mutation_p.T492P|KIAA1328_ENST00000435985.2_Missense_Mutation_p.T248P	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	496										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGATTTTGTCACCACAGCCTC	0.383																																						dbGAP											0													143.0	151.0	149.0					18																	34753007		2043	4202	6245	-	-	-	SO:0001583	missense	0			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1486A>C	18.37:g.34753007A>C	ENSP00000280020:p.Thr496Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	NULL	p.T496P	ENST00000280020.5	37	c.1486	CCDS45855.1	18	.	.	.	.	.	.	.	.	.	.	A	9.958	1.221890	0.22457	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.54479	0.81;0.86;0.57	5.5	-1.31	0.09230	.	0.614025	0.16718	N	0.202394	T	0.36717	0.0977	L	0.48642	1.525	0.09310	N	1	B;B;B	0.24368	0.102;0.102;0.007	B;B;B	0.24155	0.051;0.051;0.027	T	0.28202	-1.0051	10	0.59425	D	0.04	.	1.7784	0.03026	0.5483:0.127:0.2029:0.1218	.	496;248;496	A8K8C3;Q86T90-3;Q86T90	.;.;K1328_HUMAN	P	388;496;496;248	ENSP00000441359:T388P;ENSP00000280020:T496P;ENSP00000390515:T248P	ENSP00000280020:T496P	T	+	1	0	KIAA1328	33007005	0.002000	0.14202	0.000000	0.03702	0.036000	0.12997	1.747000	0.38298	-0.342000	0.08363	-0.250000	0.11733	ACC	KIAA1328	-	NULL	ENSG00000150477		0.383	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1328	HGNC	protein_coding	OTTHUMT00000440455.1	374	0.00	0	A	NM_020776		34753007	34753007	+1	no_errors	ENST00000280020	ensembl	human	known	69_37n	missense	255	12.37	36	SNP	0.000	C
RIC1	57589	genome.wustl.edu	37	9	5757375	5757375	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:5757375A>C	ENST00000414202.2	+	17	2107	c.1916A>C	c.(1915-1917)cAc>cCc	p.H639P	KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560P|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639P|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560P|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523P	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TACATTCCTCACCCTTTCCTG	0.428																																						dbGAP											0													293.0	263.0	273.0					9																	5757375		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000414202.2:c.1916A>C	9.37:g.5757375A>C	ENSP00000416696:p.His639Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.H560P	ENST00000414202.2	37	c.1679	CCDS34982.2	9	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626454	0.87560	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74674	0.942;0.963;0.973;0.984	T	0.77838	-0.2439	9	0.44086	T	0.13	-18.035	16.6406	0.85098	1.0:0.0:0.0:0.0	.	523;560;639;639	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	P	639;639;560;560;523	.	ENSP00000251879:H639P	H	+	2	0	KIAA1432	5747375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.879000	0.92398	2.326000	0.78906	0.533000	0.62120	CAC	KIAA1432	-	NULL	ENSG00000107036		0.428	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	317	0.93	3	A			5757375	5757375	+1	no_errors	ENST00000418622	ensembl	human	known	69_37n	missense	253	15.05	45	SNP	1.000	C
KIAA1462	57608	genome.wustl.edu	37	10	30315897	30315897	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:30315897A>C	ENST00000375377.1	-	3	3281	c.3180T>G	c.(3178-3180)ggT>ggG	p.G1060G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1060					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTCACTGGCACCCTGTTCTT	0.597																																						dbGAP											0													148.0	147.0	147.0					10																	30315897		1921	4122	6043	-	-	-	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3180T>G	10.37:g.30315897A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.G1060	ENST00000375377.1	37	c.3180	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	205	0.00	0	A	NM_020848		30315897	30315897	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	silent	200	13.36	31	SNP	0.000	C
KIAA1462	57608	genome.wustl.edu	37	10	30318312	30318312	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:30318312T>G	ENST00000375377.1	-	3	866	c.765A>C	c.(763-765)tcA>tcC	p.S255S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	255	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCATTTTAGGTGAATGTCTTT	0.493																																						dbGAP											0													122.0	124.0	123.0					10																	30318312		1959	4147	6106	-	-	-	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.765A>C	10.37:g.30318312T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.S255	ENST00000375377.1	37	c.765	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.493	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	166	0.00	0	T	NM_020848		30318312	30318312	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	silent	110	16.03	21	SNP	0.000	G
KIAA1549L	25758	genome.wustl.edu	37	11	33564682	33564682	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:33564682A>C	ENST00000321505.4	+	1	862	c.682A>C	c.(682-684)Act>Cct	p.T228P	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228P|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	228						integral component of membrane (GO:0016021)											AGAAATGCCCACTCTTCCAGC	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													80.0	79.0	79.0					11																	33564682		1943	4141	6084	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.682A>C	11.37:g.33564682A>C	ENSP00000315295:p.Thr228Pro	Somatic	841	WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.T228P	ENST00000321505.4	37	c.682	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787951	0.31593	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.51	-7.43	0.01383	.	2.000870	0.02534	N	0.093895	T	0.32071	0.0817	N	0.24115	0.695	0.09310	N	1	P;D	0.57571	0.856;0.98	B;P	0.56700	0.282;0.804	T	0.49862	-0.8894	9	0.54805	T	0.06	8.1797	3.1041	0.06336	0.2649:0.1093:0.4123:0.2135	.	228;228	E9PAT2;Q6ZVL6-2	.;.	P	228;228;228;68	.	ENSP00000265654:T228P	T	+	1	0	C11orf41	33521258	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.299000	0.02754	-1.897000	0.01101	-0.451000	0.05528	ACT	KIAA1549L	-	NULL	ENSG00000110427		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	283	0.35	1	A	NM_012194		33564682	33564682	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	389	13.11	59	SNP	0.000	C
CIPC	85457	genome.wustl.edu	37	14	77579857	77579857	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:77579857A>C	ENST00000361786.2	+	4	713	c.396A>C	c.(394-396)ccA>ccC	p.P132P	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_3'UTR|KIAA1737_ENST00000555611.1_3'UTR	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		132					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCCTTCATCCACCTGTACCAT	0.507																																						dbGAP											0													149.0	130.0	136.0					14																	77579857		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000361786.2:c.396A>C	14.37:g.77579857A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	NULL	p.P132	ENST00000361786.2	37	c.396	CCDS9855.1	14																																																																																			KIAA1737	-	NULL	ENSG00000198894		0.507	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1737	HGNC	protein_coding	OTTHUMT00000414278.1	98	0.00	0	A			77579857	77579857	+1	no_errors	ENST00000361786	ensembl	human	known	69_37n	silent	58	14.71	10	SNP	0.524	C
KIAA1755	85449	genome.wustl.edu	37	20	36869781	36869781	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:36869781A>C	ENST00000279024.4	-	3	1023	c.752T>G	c.(751-753)gTg>gGg	p.V251G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	251										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTTGCTCCACCTTGATGAG	0.587																																						dbGAP											0													145.0	127.0	133.0					20																	36869781		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.752T>G	20.37:g.36869781A>C	ENSP00000279024:p.Val251Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.V251G	ENST00000279024.4	37	c.752	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227247	0.58668	.	.	ENSG00000149633	ENST00000279024	T	0.08896	3.04	5.31	5.31	0.75309	.	0.000000	0.45361	D	0.000369	T	0.27349	0.0671	M	0.71581	2.175	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.00677	-1.1614	10	0.59425	D	0.04	.	13.1433	0.59446	1.0:0.0:0.0:0.0	.	251	Q5JYT7	K1755_HUMAN	G	251	ENSP00000279024:V251G	ENSP00000279024:V251G	V	-	2	0	KIAA1755	36303195	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	3.458000	0.53014	2.231000	0.72958	0.533000	0.62120	GTG	KIAA1755	-	NULL	ENSG00000149633		0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	211	0.93	2	A	NM_001029864		36869781	36869781	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	missense	121	18.79	28	SNP	1.000	C
KIAA2018	205717	genome.wustl.edu	37	3	113378848	113378848	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:113378848T>G	ENST00000478658.1	-	5	1698	c.1681A>C	c.(1681-1683)Acc>Ccc	p.T561P	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.T561P			Q68DE3	K2018_HUMAN	KIAA2018	561						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGGCATGGGGTGGTGCTAGGT	0.448																																						dbGAP											0													180.0	178.0	179.0					3																	113378848		1981	4152	6133	-	-	-	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1681A>C	3.37:g.113378848T>G	ENSP00000420721:p.Thr561Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T561P	ENST00000478658.1	37	c.1681	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	T	6.932	0.541741	0.13250	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.09	1.42	0.22433	.	0.295857	0.34484	N	0.003928	T	0.08447	0.0210	N	0.24115	0.695	0.36483	D	0.867963	P	0.43169	0.8	B	0.32289	0.143	T	0.28235	-1.0050	10	0.51188	T	0.08	-2.0865	8.6573	0.34071	0.0:0.3193:0.0:0.6807	.	561	Q68DE3	K2018_HUMAN	P	561	ENSP00000320794:T561P;ENSP00000420721:T561P	ENSP00000320794:T561P	T	-	1	0	KIAA2018	114861538	0.891000	0.30450	0.973000	0.42090	0.741000	0.42261	1.685000	0.37659	0.269000	0.21961	0.455000	0.32223	ACC	KIAA2018	-	NULL	ENSG00000176542		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	238	0.00	0	T	NM_001009899		113378848	113378848	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	missense	222	13.28	34	SNP	0.946	G
KIAA2026	158358	genome.wustl.edu	37	9	5920350	5920350	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:5920350T>G	ENST00000399933.3	-	8	5645	c.5646A>C	c.(5644-5646)acA>acC	p.T1882T	KIAA2026_ENST00000381461.2_Silent_p.T1852T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1882										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTGCCAAAGGTGTACTGGTAT	0.448																																						dbGAP											0													169.0	168.0	168.0					9																	5920350		1949	4158	6107	-	-	-	SO:0001819	synonymous_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5646A>C	9.37:g.5920350T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.T1882	ENST00000399933.3	37	c.5646		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.448	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	461	0.65	3	T	NM_001017969		5920350	5920350	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	silent	310	11.86	42	SNP	0.982	G
KIAA2026	158358	genome.wustl.edu	37	9	5921650	5921650	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:5921650T>G	ENST00000399933.3	-	8	4345	c.4346A>C	c.(4345-4347)tAc>tCc	p.Y1449S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.Y1419S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1449										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTAACAGGGTAACTTTTTGT	0.363																																						dbGAP											0													176.0	164.0	168.0					9																	5921650		1929	4148	6077	-	-	-	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4346A>C	9.37:g.5921650T>G	ENSP00000382815:p.Tyr1449Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.Y1449S	ENST00000399933.3	37	c.4346		9	.	.	.	.	.	.	.	.	.	.	t	6.628	0.484237	0.12641	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.53	0.823	0.18812	.	0.624215	0.14941	N	0.289499	T	0.17789	0.0427	N	0.19112	0.55	0.20403	N	0.999902	B	0.19200	0.034	B	0.16289	0.015	T	0.18745	-1.0327	9	0.23302	T	0.38	3.4936	3.4	0.07320	0.2843:0.1577:0.0:0.558	.	1449	Q5HYC2	K2026_HUMAN	S	1449;1419	.	ENSP00000370870:Y1419S	Y	-	2	0	KIAA2026	5911650	0.372000	0.25064	0.984000	0.44739	0.920000	0.55202	1.509000	0.35780	-0.011000	0.14247	-0.433000	0.05886	TAC	KIAA2026	-	NULL	ENSG00000183354		0.363	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	223	0.00	0	T	NM_001017969		5921650	5921650	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	missense	157	10.73	19	SNP	0.686	G
KIDINS220	57498	genome.wustl.edu	37	2	8926448	8926448	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:8926448A>C	ENST00000256707.3	-	16	2008	c.1827T>G	c.(1825-1827)ggT>ggG	p.G609G	KIDINS220_ENST00000473731.1_Silent_p.G609G|KIDINS220_ENST00000418530.1_Silent_p.G567G|KIDINS220_ENST00000319688.5_Silent_p.G610G|KIDINS220_ENST00000427284.1_Silent_p.G609G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	609	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGTTTCTCCACCTACACTGG	0.363																																						dbGAP											0													148.0	139.0	142.0					2																	8926448		1848	4093	5941	-	-	-	SO:0001819	synonymous_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1827T>G	2.37:g.8926448A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G609	ENST00000256707.3	37	c.1827	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	786	0.25	2	A	NM_020738		8926448	8926448	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	silent	506	11.38	65	SNP	0.601	C
KIDINS220	57498	genome.wustl.edu	37	2	8930118	8930118	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:8930118T>G	ENST00000256707.3	-	14	1694	c.1513A>C	c.(1513-1515)Acc>Ccc	p.T505P	KIDINS220_ENST00000473731.1_Missense_Mutation_p.T505P|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T463P|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T506P|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T505P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	505	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGTAGCAGGGTAAGAAACACT	0.423																																						dbGAP											0													124.0	119.0	120.0					2																	8930118		1848	4098	5946	-	-	-	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1513A>C	2.37:g.8930118T>G	ENSP00000256707:p.Thr505Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T505P	ENST00000256707.3	37	c.1513	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	18.44	3.623903	0.66901	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.67171	0.89;-0.25;-0.22;-0.15;-0.22;-0.17;-0.16	4.46	4.46	0.54185	KAP P-loop (1);	0.261573	0.43110	D	0.000609	T	0.69314	0.3097	L	0.44542	1.39	0.49483	D	0.999791	D;B;P;B	0.56287	0.975;0.408;0.699;0.445	P;B;P;B	0.54815	0.761;0.393;0.602;0.445	T	0.69431	-0.5147	10	0.39692	T	0.17	.	14.1935	0.65654	0.0:0.0:0.0:1.0	.	506;506;463;505	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	P	252;189;505;505;463;505;506;506	ENSP00000420364:T252P;ENSP00000256707:T505P;ENSP00000411849:T505P;ENSP00000414923:T463P;ENSP00000418974:T505P;ENSP00000419964:T506P;ENSP00000319947:T506P	ENSP00000256707:T505P	T	-	1	0	KIDINS220	8847569	1.000000	0.71417	0.912000	0.35992	0.835000	0.47333	3.740000	0.55082	1.998000	0.58463	0.482000	0.46254	ACC	KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.423	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	616	0.32	2	T	NM_020738		8930118	8930118	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	missense	341	12.76	50	SNP	0.997	G
KIDINS220	57498	genome.wustl.edu	37	2	8940593	8940593	+	Silent	SNP	A	A	C	rs202122176		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:8940593A>C	ENST00000256707.3	-	9	1018	c.837T>G	c.(835-837)ggT>ggG	p.G279G	KIDINS220_ENST00000473731.1_Silent_p.G279G|KIDINS220_ENST00000418530.1_Silent_p.G237G|KIDINS220_ENST00000319688.5_Silent_p.G280G|KIDINS220_ENST00000427284.1_Silent_p.G279G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	279					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAACATGACCACCTCTGACAG	0.373																																						dbGAP											0													190.0	193.0	192.0					2																	8940593		1911	4124	6035	-	-	-	SO:0001819	synonymous_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.837T>G	2.37:g.8940593A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G279	ENST00000256707.3	37	c.837	CCDS42650.1	2																																																																																			KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134313		0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	375	0.00	0	A	NM_020738		8940593	8940593	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	silent	252	17.65	54	SNP	0.996	C
KIF13A	63971	genome.wustl.edu	37	6	17800249	17800249	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:17800249A>C	ENST00000259711.6	-	21	2655	c.2550T>G	c.(2548-2550)agT>agG	p.S850R	KIF13A_ENST00000378814.5_Missense_Mutation_p.S850R|KIF13A_ENST00000378843.2_Missense_Mutation_p.S850R|KIF13A_ENST00000378826.2_Missense_Mutation_p.S850R|KIF13A_ENST00000378816.5_Missense_Mutation_p.S850R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	850					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAAGGCTCCCACTTTCACTGG	0.532																																						dbGAP											0													153.0	152.0	152.0					6																	17800249		2031	4188	6219	-	-	-	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2550T>G	6.37:g.17800249A>C	ENSP00000259711:p.Ser850Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S850R	ENST00000259711.6	37	c.2550	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.73|19.73	3.882512|3.882512	0.72294|0.72294	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816|ENST00000358380	T;T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61;-0.61|.	5.23|5.23	-3.57|-3.57	0.04612|0.04612	.|.	0.040789|.	0.85682|.	D|.	0.000000|.	T|T	0.51483|0.51483	0.1677|0.1677	L|L	0.61218|0.61218	1.895|1.895	0.53688|0.53688	D|D	0.999977|0.999977	B;D;B;D|.	0.54772|.	0.321;0.968;0.04;0.96|.	B;P;B;P|.	0.55345|.	0.132;0.774;0.027;0.663|.	T|T	0.60900|0.60900	-0.7171|-0.7171	10|5	0.56958|.	D|.	0.05|.	.|.	12.5661|12.5661	0.56310|0.56310	0.4869:0.0:0.5131:0.0|0.4869:0.0:0.5131:0.0	.|.	850;850;850;850|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	R|G	850|244	ENSP00000368091:S850R;ENSP00000259711:S850R;ENSP00000368103:S850R;ENSP00000368120:S850R;ENSP00000368093:S850R|.	ENSP00000259711:S850R|.	S|V	-|-	3|2	2|0	KIF13A|KIF13A	17908228|17908228	0.171000|0.171000	0.23029|0.23029	0.971000|0.971000	0.41717|0.41717	0.987000|0.987000	0.75469|0.75469	-0.230000|-0.230000	0.09083|0.09083	-0.654000|-0.654000	0.05394|0.05394	0.482000|0.482000	0.46254|0.46254	AGT|GTG	KIF13A	-	NULL	ENSG00000137177		0.532	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	185	0.54	1	A			17800249	17800249	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	missense	205	13.08	31	SNP	0.994	C
KIF14	9928	genome.wustl.edu	37	1	200571175	200571175	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:200571175A>C	ENST00000367350.4	-	11	2439	c.2001T>G	c.(1999-2001)ggT>ggG	p.G667G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	667	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGAATTTCCACCCAGACTTT	0.353																																						dbGAP											0													92.0	88.0	89.0					1																	200571175		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2001T>G	1.37:g.200571175A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G667	ENST00000367350.4	37	c.2001	CCDS30963.1	1																																																																																			KIF14	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000118193		0.353	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	71	0.00	0	A	NM_014875		200571175	200571175	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	silent	78	17.71	17	SNP	1.000	C
KIF16B	55614	genome.wustl.edu	37	20	16407783	16407783	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:16407783A>C	ENST00000354981.2	-	15	1735	c.1578T>G	c.(1576-1578)ggT>ggG	p.G526G	KIF16B_ENST00000355755.3_Silent_p.G526G|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.G526G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	526	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGATCTGAACACCATTCACAG	0.438																																						dbGAP											0													133.0	141.0	138.0					20																	16407783		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1578T>G	20.37:g.16407783A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G526	ENST00000354981.2	37	c.1578	CCDS13122.1	20																																																																																			KIF16B	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain	ENSG00000089177		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	660	0.60	4	A	NM_017683		16407783	16407783	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	silent	352	12.41	50	SNP	0.986	C
KIF16B	55614	genome.wustl.edu	37	20	16488620	16488620	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:16488620T>G	ENST00000354981.2	-	7	839	c.682A>C	c.(682-684)Acc>Ccc	p.T228P	KIF16B_ENST00000355755.3_Missense_Mutation_p.T228P|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.T228P	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	228	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AACTTGATGGTGAAGATGGCA	0.522																																						dbGAP											0													212.0	172.0	185.0					20																	16488620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.682A>C	20.37:g.16488620T>G	ENSP00000347076:p.Thr228Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T228P	ENST00000354981.2	37	c.682	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799734	0.90538	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74947	-0.89;-0.89;-0.89	5.84	5.84	0.93424	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94903	0.8058	10	0.87932	D	0	.	16.2109	0.82158	0.0:0.0:0.0:1.0	.	228;228;228;228	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	P	228	ENSP00000347076:T228P;ENSP00000347995:T228P;ENSP00000384164:T228P	ENSP00000347076:T228P	T	-	1	0	KIF16B	16436620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.230000	0.72887	0.455000	0.32223	ACC	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000089177		0.522	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	210	0.00	0	T	NM_017683		16488620	16488620	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	155	12.43	22	SNP	1.000	G
KIF19	124602	genome.wustl.edu	37	17	72347013	72347013	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:72347013T>G	ENST00000389916.4	+	12	1694	c.1556T>G	c.(1555-1557)gTg>gGg	p.V519G	AC103809.2_ENST00000599136.1_Missense_Mutation_p.T100P	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	519					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGCCCTGGTGGACGAGCAG	0.607																																						dbGAP											0													110.0	110.0	110.0					17																	72347013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1556T>G	17.37:g.72347013T>G	ENSP00000374566:p.Val519Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V519G	ENST00000389916.4	37	c.1556	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	T	3.263	-0.150807	0.06585	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74002	-0.8;-0.56	5.62	4.53	0.55603	.	.	.	.	.	T	0.67126	0.2860	L	0.47716	1.5	0.09310	N	0.999991	B;B;B;B	0.33266	0.078;0.404;0.404;0.404	B;B;B;B	0.38755	0.126;0.264;0.281;0.135	T	0.55166	-0.8183	9	0.22706	T	0.39	.	6.3003	0.21109	0.1404:0.0768:0.0:0.7829	.	519;477;477;519	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	G	477;519	ENSP00000449134:V477G;ENSP00000374566:V519G	ENSP00000374566:V519G	V	+	2	0	KIF19	69858608	1.000000	0.71417	0.359000	0.25824	0.001000	0.01503	3.207000	0.51106	0.949000	0.37715	0.529000	0.55759	GTG	KIF19	-	NULL	ENSG00000196169		0.607	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	30	0.00	0	T	NM_153209		72347013	72347013	+1	no_errors	ENST00000389916	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.052	G
KIF21A	55605	genome.wustl.edu	37	12	39726826	39726826	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:39726826T>G	ENST00000361418.5	-	19	2586	c.2571A>C	c.(2569-2571)gcA>gcC	p.A857A	KIF21A_ENST00000395670.3_Silent_p.A857A|KIF21A_ENST00000544797.2_Silent_p.A844A|KIF21A_ENST00000541463.2_Silent_p.A821A|KIF21A_ENST00000361961.3_Silent_p.A844A			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	857					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTGAGCAGGTGCATCAGATG	0.512																																						dbGAP											0													92.0	85.0	88.0					12																	39726826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2571A>C	12.37:g.39726826T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	superfamily_Prefoldin	p.H115P	ENST00000361418.5	37	c.344	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	0.218	-1.030636	0.02045	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.16	-3.74	0.04385	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	7.3715	0.26804	0.5726:0.0:0.2278:0.1996	.	.	.	.	P	205	.	.	H	-	2	0	KIF21A	38013093	0.001000	0.12720	0.000000	0.03702	0.070000	0.16714	-0.067000	0.11579	-1.364000	0.02161	-0.998000	0.02512	CAC	KIF21A	-	NULL	ENSG00000139116		0.512	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	146	0.00	0	T	NM_017641		39726826	39726826	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000547108	ensembl	human	known	69_37n	missense	105	14.63	18	SNP	0.000	G
KIF21B	23046	genome.wustl.edu	37	1	200972805	200972805	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:200972805A>C	ENST00000422435.2	-	8	1437	c.1121T>G	c.(1120-1122)gTg>gGg	p.V374G	KIF21B_ENST00000461742.2_Missense_Mutation_p.V374G|KIF21B_ENST00000332129.2_Missense_Mutation_p.V374G|KIF21B_ENST00000360529.5_Missense_Mutation_p.V374G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	374					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTTCACTACCACCTTGTTCTT	0.537																																						dbGAP											0													194.0	149.0	164.0					1																	200972805		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1121T>G	1.37:g.200972805A>C	ENSP00000411831:p.Val374Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.V374G	ENST00000422435.2	37	c.1121	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.983881	0.74474	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.19	5.19	0.71726	Kinesin, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.87682	2.9	0.80722	D	1	P;P;D;P	0.71674	0.89;0.89;0.998;0.933	B;B;D;P	0.76071	0.395;0.395;0.987;0.599	D	0.89797	0.3972	10	0.72032	D	0.01	.	15.0683	0.72014	1.0:0.0:0.0:0.0	.	374;374;374;374	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	374	ENSP00000328494:V374G;ENSP00000353724:V374G;ENSP00000433808:V374G;ENSP00000411831:V374G	ENSP00000328494:V374G	V	-	2	0	KIF21B	199239428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.294000	0.96088	1.959000	0.56917	0.524000	0.50904	GTG	KIF21B	-	smart_Kinesin_motor_dom	ENSG00000116852		0.537	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	48	0.00	0	A	XM_371332		200972805	200972805	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	59	17.81	13	SNP	1.000	C
KIF24	347240	genome.wustl.edu	37	9	34257302	34257302	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:34257302T>G	ENST00000402558.2	-	10	2327	c.2303A>C	c.(2302-2304)cAc>cCc	p.H768P	KIF24_ENST00000379166.2_Missense_Mutation_p.H768P|KIF24_ENST00000345050.2_Missense_Mutation_p.H634P|KIF24_ENST00000379174.3_Missense_Mutation_p.H634P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	768					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAACTGCTGGTGATAGAAACG	0.547																																						dbGAP											0													141.0	139.0	140.0					9																	34257302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2303A>C	9.37:g.34257302T>G	ENSP00000384433:p.His768Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H768P	ENST00000402558.2	37	c.2303	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226455	0.79576	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.73	5.73	0.89815	.	0.000000	0.46442	D	0.000288	T	0.55242	0.1908	M	0.68952	2.095	0.50171	D	0.999852	D	0.76494	0.999	D	0.87578	0.998	T	0.58405	-0.7642	10	0.87932	D	0	.	16.0225	0.80509	0.0:0.0:0.0:1.0	.	768	Q5T7B8	KIF24_HUMAN	P	768;634;768;634;768	ENSP00000384433:H768P;ENSP00000368472:H634P;ENSP00000368464:H768P;ENSP00000340179:H634P	ENSP00000340179:H634P	H	-	2	0	KIF24	34247302	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.291000	0.59025	2.198000	0.70561	0.533000	0.62120	CAC	KIF24	-	NULL	ENSG00000186638		0.547	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	143	0.00	0	T			34257302	34257302	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	missense	106	14.52	18	SNP	1.000	G
KIF24	347240	genome.wustl.edu	37	9	34259647	34259647	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:34259647T>G	ENST00000402558.2	-	9	1596	c.1572A>C	c.(1570-1572)tcA>tcC	p.S524S	KIF24_ENST00000379166.2_Silent_p.S524S|KIF24_ENST00000345050.2_Silent_p.S390S|KIF24_ENST00000379174.3_Silent_p.S390S			Q5T7B8	KIF24_HUMAN	kinesin family member 24	524	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGTGGCTTGGTGAGATGTTGG	0.502																																						dbGAP											0													423.0	302.0	343.0					9																	34259647		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1572A>C	9.37:g.34259647T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S524	ENST00000402558.2	37	c.1572	CCDS6551.2	9																																																																																			KIF24	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000186638		0.502	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	95	0.00	0	T			34259647	34259647	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	silent	93	19.13	22	SNP	0.995	G
KIF3A	11127	genome.wustl.edu	37	5	132052056	132052056	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:132052056T>G	ENST00000378746.4	-	7	1053	c.835A>C	c.(835-837)Acc>Ccc	p.T279P	KIF3A_ENST00000403231.1_Missense_Mutation_p.T279P|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.T279P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	279	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACCAAGGGTGGAAAGTGAA	0.418																																						dbGAP											0													126.0	122.0	123.0					5																	132052056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.835A>C	5.37:g.132052056T>G	ENSP00000368020:p.Thr279Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T279P	ENST00000378746.4	37	c.835	CCDS34235.1	5	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827126	0.90955	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.77489	-1.1;-1.1;-1.1	5.58	5.58	0.84498	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.81914	0.995;0.995;0.99;0.917	D	0.93261	0.6643	10	0.87932	D	0	.	16.0556	0.80801	0.0:0.0:0.0:1.0	.	279;279;279;279	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	P	279;279;279;279;249	ENSP00000368020:T279P;ENSP00000368009:T279P;ENSP00000385808:T279P	ENSP00000368009:T279P	T	-	1	0	KIF3A	132079955	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	7.997000	0.88414	2.239000	0.73571	0.533000	0.62120	ACC	KIF3A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000131437		0.418	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	146	0.00	0	T	NM_007054		132052056	132052056	-1	no_errors	ENST00000378735	ensembl	human	known	69_37n	missense	147	13.29	23	SNP	1.000	G
KIF6	221458	genome.wustl.edu	37	6	39313492	39313492	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:39313492T>G	ENST00000287152.7	-	21	2399	c.2305A>C	c.(2305-2307)Acc>Ccc	p.T769P	KIF6_ENST00000373215.3_Missense_Mutation_p.T752P|KIF6_ENST00000394362.1_Missense_Mutation_p.T203P|KIF6_ENST00000373213.4_Missense_Mutation_p.T608P|KIF6_ENST00000541946.1_Missense_Mutation_p.T220P|KIF6_ENST00000229913.5_Missense_Mutation_p.T220P|KIF6_ENST00000373216.3_Missense_Mutation_p.T752P|KIF6_ENST00000538893.1_Missense_Mutation_p.T713P	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	769					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCAGTGGGGTGCTGGTGCTG	0.547																																						dbGAP											0													126.0	109.0	115.0					6																	39313492		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.2305A>C	6.37:g.39313492T>G	ENSP00000287152:p.Thr769Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T769P	ENST00000287152.7	37	c.2305	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	T	9.367	1.069565	0.20147	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946	T;T;T;T;T;T;T;T	0.72282	-0.57;1.48;-0.59;-0.39;1.48;-0.58;-0.64;1.45	4.12	-3.73	0.04398	.	.	.	.	.	T	0.25232	0.0613	N	0.14661	0.345	0.09310	N	1	B;B;P;B	0.36249	0.255;0.255;0.545;0.165	B;B;B;B	0.36289	0.075;0.047;0.221;0.034	T	0.15263	-1.0443	9	0.31617	T	0.26	.	5.0378	0.14443	0.1454:0.4258:0.0:0.4287	.	752;713;752;769	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	P	769;203;752;608;220;752;713;220	ENSP00000287152:T769P;ENSP00000377889:T203P;ENSP00000362312:T752P;ENSP00000362309:T608P;ENSP00000229913:T220P;ENSP00000362311:T752P;ENSP00000441435:T713P;ENSP00000439064:T220P	ENSP00000229913:T220P	T	-	1	0	KIF6	39421470	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.362000	0.02595	-0.576000	0.05974	0.460000	0.39030	ACC	KIF6	-	NULL	ENSG00000164627		0.547	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	20	0.00	0	T	NM_145027		39313492	39313492	-1	no_errors	ENST00000287152	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.000	G
KIF6	221458	genome.wustl.edu	37	6	39507921	39507921	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:39507921A>C	ENST00000287152.7	-	13	1597	c.1503T>G	c.(1501-1503)cgT>cgG	p.R501R	KIF6_ENST00000373215.3_Silent_p.R501R|KIF6_ENST00000373213.4_Silent_p.R340R|KIF6_ENST00000373216.3_Silent_p.R501R|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	501					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCTGAATTCACGTCTATCCA	0.473																																						dbGAP											0													183.0	184.0	184.0					6																	39507921		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1503T>G	6.37:g.39507921A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V393G	ENST00000287152.7	37	c.1178	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285739	0.23478	.	.	ENSG00000164627	ENST00000458470	.	.	.	6.04	-0.653	0.11447	.	.	.	.	.	T	0.08223	0.0205	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34329	-0.9833	4	.	.	.	.	2.9121	0.05740	0.4446:0.0:0.2553:0.3001	.	.	.	.	G	393	.	.	V	-	2	0	KIF6	39615899	0.000000	0.05858	0.025000	0.17156	0.478000	0.33099	0.035000	0.13797	0.169000	0.19679	0.460000	0.39030	GTG	KIF6	-	NULL	ENSG00000164627		0.473	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	353	0.56	2	A	NM_145027		39507921	39507921	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000458470	ensembl	human	known	69_37n	missense	237	10.86	29	SNP	0.003	C
KIF7	374654	genome.wustl.edu	37	15	90189238	90189238	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:90189238T>C	ENST00000394412.3	-	8	1884	c.1808A>G	c.(1807-1809)gAg>gGg	p.E603G		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	603	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGCTCCAGCCTCCCTGCCATT	0.592																																						dbGAP											0													177.0	147.0	157.0					15																	90189238		2200	4299	6499	-	-	-	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1808A>G	15.37:g.90189238T>C	ENSP00000377934:p.Glu603Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E603G	ENST00000394412.3	37	c.1808	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	t	15.78	2.935848	0.52972	.	.	ENSG00000166813	ENST00000394412	T	0.71103	-0.54	4.05	2.79	0.32731	.	1.560920	0.03208	N	0.175720	T	0.60792	0.2296	L	0.40543	1.245	0.27122	N	0.962115	B;B	0.33694	0.288;0.421	B;B	0.26969	0.075;0.05	T	0.55939	-0.8061	10	0.56958	D	0.05	.	6.0782	0.19927	0.2283:0.0:0.0:0.7717	.	90;603	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	G	603	ENSP00000377934:E603G	ENSP00000377934:E603G	E	-	2	0	KIF7	87990242	0.022000	0.18835	0.413000	0.26509	0.563000	0.35712	0.946000	0.29069	1.778000	0.52293	0.456000	0.33151	GAG	KIF7	-	NULL	ENSG00000166813		0.592	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	152	0.00	0	T	NM_198525		90189238	90189238	-1	no_errors	ENST00000394412	ensembl	human	known	69_37n	missense	83	16.16	16	SNP	0.917	C
KLF11	8462	genome.wustl.edu	37	2	10188218	10188218	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:10188218T>G	ENST00000305883.1	+	3	916	c.754T>G	c.(754-756)Tgg>Ggg	p.W252G	KLF11_ENST00000540845.1_Missense_Mutation_p.W235G|KLF11_ENST00000535335.1_Missense_Mutation_p.W235G	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	252					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCAGGCAGGGTGGCCTGGTGC	0.547																																					Melanoma(56;431 1507 23687 50789)	dbGAP											0													94.0	93.0	93.0					2																	10188218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.754T>G	2.37:g.10188218T>G	ENSP00000307023:p.Trp252Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE7|Q9EPF4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W252G	ENST00000305883.1	37	c.754	CCDS1668.1	2	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.323645	0.01309	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.13307	2.61;2.6;2.6	5.07	1.32	0.21799	.	0.756908	0.12944	N	0.426383	T	0.13457	0.0326	M	0.67953	2.075	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30297	-0.9983	9	.	.	.	.	4.9522	0.14021	0.0:0.3241:0.3034:0.3725	.	252	O14901	KLF11_HUMAN	G	252;235;235	ENSP00000307023:W252G;ENSP00000444690:W235G;ENSP00000442722:W235G	.	W	+	1	0	KLF11	10105669	0.048000	0.20356	0.051000	0.19133	0.110000	0.19582	0.341000	0.19909	-0.013000	0.14199	-0.817000	0.03123	TGG	KLF11	-	NULL	ENSG00000172059		0.547	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3	63	0.00	0	T	NM_003597		10188218	10188218	+1	no_errors	ENST00000305883	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	0.114	G
KLHL1	57626	genome.wustl.edu	37	13	70314611	70314611	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:70314611A>C	ENST00000377844.4	-	8	2476	c.1717T>G	c.(1717-1719)Tgg>Ggg	p.W573G	KLHL1_ENST00000545028.1_Missense_Mutation_p.W380G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	573					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTGGATCCCACCTTTCCACT	0.413																																						dbGAP											0													112.0	98.0	103.0					13																	70314611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1717T>G	13.37:g.70314611A>C	ENSP00000367075:p.Trp573Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.W573G	ENST00000377844.4	37	c.1717	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138019	0.77775	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.78246	-1.16;-1.16	4.94	4.94	0.65067	Galactose oxidase, beta-propeller (1);	0.000000	0.53938	D	0.000049	D	0.88481	0.6448	M	0.82193	2.58	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90380	0.4387	10	0.87932	D	0	.	14.8879	0.70584	1.0:0.0:0.0:0.0	.	573;573	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	G	573;380	ENSP00000367075:W573G;ENSP00000439602:W380G	ENSP00000367075:W573G	W	-	1	0	KLHL1	69212612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.191000	0.94940	1.989000	0.58080	0.482000	0.46254	TGG	KLHL1	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000150361		0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	115	0.86	1	A	NM_020866		70314611	70314611	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	missense	82	21.90	23	SNP	1.000	C
KLHL13	90293	genome.wustl.edu	37	X	117033137	117033137	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:117033137T>G	ENST00000262820.3	-	7	2611	c.1702A>C	c.(1702-1704)Acc>Ccc	p.T568P	KLHL13_ENST00000371882.1_Missense_Mutation_p.T517P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T552P|KLHL13_ENST00000545703.1_Missense_Mutation_p.T526P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T517P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T571P|KLHL13_ENST00000540167.1_Missense_Mutation_p.T552P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T517P|KLHL13_ENST00000371876.1_Missense_Mutation_p.T517P	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	568					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCAATTGGGGTCCACTGGTCA	0.438																																						dbGAP											0													178.0	160.0	166.0					X																	117033137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1702A>C	X.37:g.117033137T>G	ENSP00000262820:p.Thr568Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T571P	ENST00000262820.3	37	c.1711	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535112	0.64972	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.90974	0.7162	H	0.95260	3.645	0.80722	D	1	D;D;D;D	0.71674	0.991;0.998;0.997;0.997	D;D;P;D	0.70016	0.937;0.967;0.906;0.944	D	0.93333	0.6703	10	0.66056	D	0.02	.	14.2106	0.65762	0.0:0.0:0.0:1.0	.	552;571;562;568	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	P	517;517;517;517;552;552;571;568;526;517	ENSP00000360949:T517P;ENSP00000360943:T517P;ENSP00000360945:T517P;ENSP00000412640:T517P;ENSP00000444450:T552P;ENSP00000441029:T552P;ENSP00000443191:T571P;ENSP00000262820:T568P;ENSP00000440707:T526P;ENSP00000419803:T517P	ENSP00000262820:T568P	T	-	1	0	KLHL13	116917165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.931000	0.55961	0.486000	0.48141	ACC	KLHL13	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.438	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		407	0.49	2	T	NM_033495		117033137	117033137	-1	no_errors	ENST00000539496	ensembl	human	known	69_37n	missense	329	12.66	48	SNP	1.000	G
KLHL38	340359	genome.wustl.edu	37	8	124664670	124664670	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:124664670A>C	ENST00000325995.7	-	1	520	c.497T>G	c.(496-498)gTg>gGg	p.V166G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	166	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGATGCGGCCACCTCTGGGAA	0.572																																						dbGAP											0													52.0	54.0	53.0					8																	124664670		1961	4135	6096	-	-	-	SO:0001583	missense	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.497T>G	8.37:g.124664670A>C	ENSP00000321475:p.Val166Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V166G	ENST00000325995.7	37	c.497	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904950	0.33628	.	.	ENSG00000175946	ENST00000325995	T	0.78126	-1.15	5.29	4.1	0.47936	BTB/Kelch-associated (2);	0.055580	0.64402	D	0.000001	D	0.91074	0.7191	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92382	0.5914	10	0.87932	D	0	.	12.2439	0.54560	0.8575:0.1425:0.0:0.0	.	166	Q2WGJ6	KLH38_HUMAN	G	166	ENSP00000321475:V166G	ENSP00000321475:V166G	V	-	2	0	KLHL38	124733851	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	9.243000	0.95416	0.829000	0.34733	-0.619000	0.04042	GTG	KLHL38	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.572	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	165	0.00	0	A			124664670	124664670	-1	no_errors	ENST00000325995	ensembl	human	known	69_37n	missense	82	20.19	21	SNP	1.000	C
KLHL6	89857	genome.wustl.edu	37	3	183226052	183226052	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:183226052A>C	ENST00000341319.3	-	3	739	c.704T>G	c.(703-705)gTg>gGg	p.V235G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	235	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGTCTCAAACACCTGagcctc	0.552																																						dbGAP											0													132.0	111.0	118.0					3																	183226052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.704T>G	3.37:g.183226052A>C	ENSP00000341342:p.Val235Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB31|D3DNS8|Q8N5I1|Q8N892	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.V235G	ENST00000341319.3	37	c.704	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702265	0.88924	.	.	ENSG00000172578	ENST00000341319	T	0.74947	-0.89	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94217	0.7464	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	235	Q8WZ60	KLHL6_HUMAN	G	235	ENSP00000341342:V235G	ENSP00000341342:V235G	V	-	2	0	KLHL6	184708746	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	GTG	KLHL6	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000172578		0.552	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	137	0.00	0	A	NM_130446		183226052	183226052	-1	no_errors	ENST00000341319	ensembl	human	known	69_37n	missense	146	15.03	26	SNP	1.000	C
KLHL7	55975	genome.wustl.edu	37	7	23213710	23213710	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:23213710T>G	ENST00000339077.5	+	11	1797	c.1554T>G	c.(1552-1554)ggT>ggG	p.G518G	KLHL7_ENST00000542558.1_Silent_p.G293G|KLHL7_ENST00000409689.1_Silent_p.G470G|KLHL7_ENST00000539124.1_Silent_p.G442G|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000545443.1_Silent_p.G496G|KLHL7_ENST00000322231.7_Silent_p.G496G	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	518					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATGGAAGGGTGTAACAGTGA	0.398																																						dbGAP											0													287.0	247.0	261.0					7																	23213710		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1554T>G	7.37:g.23213710T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	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.G518	ENST00000339077.5	37	c.1554	CCDS34609.1	7																																																																																			KLHL7	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.398	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	183	0.54	1	T	NM_018846		23213710	23213710	+1	no_errors	ENST00000339077	ensembl	human	known	69_37n	silent	145	13.61	23	SNP	1.000	G
KLHL8	57563	genome.wustl.edu	37	4	88085134	88085134	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:88085134A>C	ENST00000273963.5	-	9	1976	c.1635T>G	c.(1633-1635)ggT>ggG	p.G545G	KLHL8_ENST00000425278.2_Silent_p.G362G|KLHL8_ENST00000545252.1_Silent_p.G194G|KLHL8_ENST00000512111.1_Silent_p.G545G|KLHL8_ENST00000498875.2_Silent_p.G469G	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	545					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTCCCACTCCACCTCTGGGAG	0.458																																						dbGAP											0													137.0	135.0	136.0					4																	88085134		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1635T>G	4.37:g.88085134A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XA3|Q6N018	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G545	ENST00000273963.5	37	c.1635	CCDS3617.1	4																																																																																			KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.458	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	286	0.69	2	A			88085134	88085134	-1	no_errors	ENST00000273963	ensembl	human	known	69_37n	silent	135	18.56	31	SNP	0.437	C
KLKB1	3818	genome.wustl.edu	37	4	187171492	187171492	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:187171492A>C	ENST00000264690.6	+	7	881	c.694A>C	c.(694-696)Acc>Ccc	p.T232P	KLKB1_ENST00000513864.1_Missense_Mutation_p.T232P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	232	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GACCATCTGCACCTATCACCC	0.468																																						dbGAP											0													217.0	184.0	195.0					4																	187171492		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.694A>C	4.37:g.187171492A>C	ENSP00000264690:p.Thr232Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A	p.T232P	ENST00000264690.6	37	c.694	CCDS34120.1	4	.	.	.	.	.	.	.	.	.	.	a	15.78	2.933642	0.52866	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.89552	-2.53;-2.53	5.21	5.21	0.72293	Apple domain (3);PAN-1 domain (1);Apple-like (1);	0.000000	0.64402	D	0.000001	D	0.95494	0.8536	M	0.90870	3.155	0.46260	D	0.998959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96443	0.9328	10	0.87932	D	0	.	15.2509	0.73545	1.0:0.0:0.0:0.0	.	194;232	E7EQA8;P03952	.;KLKB1_HUMAN	P	232;232;194	ENSP00000264690:T232P;ENSP00000424469:T232P	ENSP00000264690:T232P	T	+	1	0	KLKB1	187408486	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	5.832000	0.69337	2.191000	0.70037	0.449000	0.29647	ACC	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple	ENSG00000164344		0.468	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	308	0.65	2	A	NM_000892		187171492	187171492	+1	no_errors	ENST00000264690	ensembl	human	known	69_37n	missense	244	11.87	33	SNP	1.000	C
KRT10	3858	genome.wustl.edu	37	17	38978706	38978706	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:38978706A>C	ENST00000269576.5	-	1	141	c.132T>G	c.(130-132)ggT>ggG	p.G44G	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	44	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAAATCCTCCACCAAGGGAGC	0.577																																						dbGAP											0													68.0	67.0	67.0					17																	38978706		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.132T>G	17.37:g.38978706A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14664|Q8N175	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G44	ENST00000269576.5	37	c.132	CCDS11377.1	17																																																																																			KRT10	-	NULL	ENSG00000186395		0.577	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	144	0.00	0	A	NM_000421		38978706	38978706	-1	no_errors	ENST00000269576	ensembl	human	known	69_37n	silent	104	18.46	24	SNP	0.996	C
KRT13	3860	genome.wustl.edu	37	17	39661749	39661749	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:39661749A>C	ENST00000246635.3	-	1	100	c.54T>G	c.(52-54)ggT>ggG	p.G18G	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Silent_p.G18G|KRT13_ENST00000336861.3_Silent_p.G18G	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	18	Gly-rich.|Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGCAAGAGCCACCCCCGAAAC	0.617																																						dbGAP											0													71.0	82.0	78.0					17																	39661749		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.54T>G	17.37:g.39661749A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G18	ENST00000246635.3	37	c.54	CCDS11396.1	17																																																																																			KRT13	-	NULL	ENSG00000171401		0.617	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	56	0.00	0	A	NM_153490		39661749	39661749	-1	no_errors	ENST00000246635	ensembl	human	known	69_37n	silent	42	34.38	22	SNP	1.000	C
KRT24	192666	genome.wustl.edu	37	17	38859682	38859682	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:38859682A>C	ENST00000264651.2	-	1	320	c.264T>G	c.(262-264)ggT>ggG	p.G88G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	88	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TAGAACCCCCACCAAATCCTG	0.572																																					GBM(61;380 1051 14702 23642 31441)	dbGAP											0													78.0	99.0	92.0					17																	38859682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.264T>G	17.37:g.38859682A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NXG7	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G88	ENST00000264651.2	37	c.264	CCDS11372.1	17																																																																																			KRT24	-	NULL	ENSG00000167916		0.572	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	242	0.82	2	A	NM_019016		38859682	38859682	-1	no_errors	ENST00000264651	ensembl	human	known	69_37n	silent	336	20.75	88	SNP	0.002	C
KRT28	162605	genome.wustl.edu	37	17	38955996	38955996	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:38955996T>C	ENST00000306658.7	-	1	215	c.150A>G	c.(148-150)ggA>ggG	p.G50G		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCAAGCCCCCTCCCAAGGCAC	0.577																																					Melanoma(19;789 869 15380 26882 39836)	dbGAP											0													72.0	77.0	75.0					17																	38955996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.150A>G	17.37:g.38955996T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G50	ENST00000306658.7	37	c.150	CCDS11376.1	17																																																																																			KRT28	-	NULL	ENSG00000173908		0.577	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	99	1.00	1	T	NM_181535		38955996	38955996	-1	no_errors	ENST00000306658	ensembl	human	known	69_37n	silent	163	15.10	29	SNP	0.991	C
KRT28	162605	genome.wustl.edu	37	17	38956017	38956017	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:38956017A>C	ENST00000306658.7	-	1	194	c.129T>G	c.(127-129)agT>agG	p.S43R		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGGAAAATTCACTTCCAGCAA	0.557																																					Melanoma(19;789 869 15380 26882 39836)	dbGAP											0													80.0	86.0	84.0					17																	38956017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.129T>G	17.37:g.38956017A>C	ENSP00000305263:p.Ser43Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S43R	ENST00000306658.7	37	c.129	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	A	11.36	1.616860	0.28801	.	.	ENSG00000173908	ENST00000306658	T	0.78816	-1.21	5.6	3.39	0.38822	.	0.295586	0.29522	N	0.011903	T	0.73410	0.3583	L	0.42245	1.32	0.28659	N	0.906222	P	0.42556	0.783	P	0.46758	0.526	T	0.66720	-0.5852	10	0.54805	T	0.06	.	7.821	0.29288	0.743:0.118:0.139:0.0	.	43	Q7Z3Y7	K1C28_HUMAN	R	43	ENSP00000305263:S43R	ENSP00000305263:S43R	S	-	3	2	KRT28	36209543	0.000000	0.05858	0.934000	0.37439	0.057000	0.15508	-0.795000	0.04580	0.148000	0.19059	-1.162000	0.01777	AGT	KRT28	-	NULL	ENSG00000173908		0.557	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	101	0.00	0	A	NM_181535		38956017	38956017	-1	no_errors	ENST00000306658	ensembl	human	known	69_37n	missense	161	12.50	23	SNP	0.998	C
KRT16	3868	genome.wustl.edu	37	17	39768585	39768585	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:39768585A>C	ENST00000301653.4	-	1	420	c.356T>G	c.(355-357)gTg>gGg	p.V119G		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	119	Coil 1A.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CTGCATGGTCACCTTCTCACT	0.602																																						dbGAP											0													151.0	148.0	149.0					17																	39768585		2203	4297	6500	-	-	-	SO:0001583	missense	0			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.356T>G	17.37:g.39768585A>C	ENSP00000301653:p.Val119Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.V119G	ENST00000301653.4	37	c.356	CCDS11401.1	17	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496891	0.26861	.	.	ENSG00000186832	ENST00000301653	D	0.88741	-2.42	4.43	4.43	0.53597	Filament (1);	1.486920	0.04378	N	0.360231	D	0.87857	0.6283	L	0.45470	1.425	0.19300	N	0.999979	P	0.37015	0.578	B	0.43018	0.405	T	0.76881	-0.2795	10	0.62326	D	0.03	.	4.2236	0.10570	0.5779:0.0:0.092:0.3301	.	119	P08779	K1C16_HUMAN	G	119	ENSP00000301653:V119G	ENSP00000301653:V119G	V	-	2	0	KRT16	37022111	0.002000	0.14202	0.753000	0.31225	0.885000	0.51271	1.266000	0.33039	1.991000	0.58162	0.379000	0.24179	GTG	KRT16	-	pfam_F	ENSG00000186832		0.602	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT16	HGNC	protein_coding	OTTHUMT00000257408.1	215	0.92	2	A	NM_005557		39768585	39768585	-1	no_errors	ENST00000301653	ensembl	human	known	69_37n	missense	144	12.73	21	SNP	0.044	C
KRT3	3850	genome.wustl.edu	37	12	53186544	53186544	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53186544A>C	ENST00000417996.2	-	4	1048	c.974T>G	c.(973-975)gTg>gGg	p.V325G	KRT3_ENST00000309505.3_Missense_Mutation_p.V325G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	325	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAAGGCATCCACTTTGGCCTG	0.463																																						dbGAP											0													196.0	200.0	199.0					12																	53186544		2128	4273	6401	-	-	-	SO:0001583	missense	0				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.974T>G	12.37:g.53186544A>C	ENSP00000413479:p.Val325Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIS2|Q701L8	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.V325G	ENST00000417996.2	37	c.974	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	A	12.42	1.933165	0.34096	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.79454	-1.27;-1.27	4.39	0.703	0.18116	Filament (1);	1.391800	0.05015	N	0.471608	D	0.85894	0.5803	M	0.93978	3.48	0.46376	D	0.999019	P	0.46457	0.878	P	0.46510	0.519	T	0.78914	-0.2016	10	0.87932	D	0	.	9.0485	0.36360	0.6948:0.0:0.3052:0.0	.	325	P12035	K2C3_HUMAN	G	325	ENSP00000413479:V325G;ENSP00000312206:V325G	ENSP00000312206:V325G	V	-	2	0	KRT3	51472811	0.018000	0.18449	0.566000	0.28421	0.571000	0.35966	2.969000	0.49232	0.032000	0.15435	0.402000	0.26972	GTG	KRT3	-	pfam_F,superfamily_Prefoldin	ENSG00000186442		0.463	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	244	0.41	1	A	NM_057088		53186544	53186544	-1	no_errors	ENST00000309505	ensembl	human	known	69_37n	missense	148	11.90	20	SNP	0.839	C
KRT3	3850	genome.wustl.edu	37	12	53186562	53186562	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53186562A>C	ENST00000417996.2	-	4	1030	c.956T>G	c.(955-957)gTg>gGg	p.V319G	KRT3_ENST00000309505.3_Missense_Mutation_p.V319G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	319	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGAAGCTCCACCTTGTTCAT	0.458																																						dbGAP											0													185.0	190.0	188.0					12																	53186562		2129	4271	6400	-	-	-	SO:0001583	missense	0				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.956T>G	12.37:g.53186562A>C	ENSP00000413479:p.Val319Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIS2|Q701L8	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.V319G	ENST00000417996.2	37	c.956	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627496	0.66901	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90504	-2.68;-2.68	4.39	4.39	0.52855	Filament (1);	0.000000	0.41294	D	0.000902	D	0.92967	0.7762	M	0.92923	3.36	0.53688	D	0.999974	P	0.46457	0.878	P	0.46510	0.519	D	0.93591	0.6921	10	0.87932	D	0	.	8.7401	0.34552	0.9134:0.0:0.0866:0.0	.	319	P12035	K2C3_HUMAN	G	319	ENSP00000413479:V319G;ENSP00000312206:V319G	ENSP00000312206:V319G	V	-	2	0	KRT3	51472829	0.009000	0.17119	1.000000	0.80357	0.945000	0.59286	2.553000	0.45837	1.976000	0.57569	0.402000	0.26972	GTG	KRT3	-	pfam_F,prints_Keratin_I	ENSG00000186442		0.458	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	233	0.00	0	A	NM_057088		53186562	53186562	-1	no_errors	ENST00000309505	ensembl	human	known	69_37n	missense	142	14.29	24	SNP	1.000	C
KRT3	3850	genome.wustl.edu	37	12	53189593	53189593	+	Silent	SNP	T	T	C	rs202183688	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53189593T>C	ENST00000417996.2	-	1	308	c.234A>G	c.(232-234)ggA>ggG	p.G78G	KRT3_ENST00000309505.3_Silent_p.G78G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	78	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCCCAAAGCCTCCAGCCCGGG	0.647													T|||	5	0.000998403	0.0015	0.0	5008	,	,		14762	0.002		0.001	False		,,,				2504	0.0					dbGAP											0													85.0	115.0	105.0					12																	53189593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.234A>G	12.37:g.53189593T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIS2|Q701L8	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G78	ENST00000417996.2	37	c.234	CCDS44895.1	12																																																																																			KRT3	-	NULL	ENSG00000186442		0.647	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	68	0.00	0	T	NM_057088		53189593	53189593	-1	no_errors	ENST00000309505	ensembl	human	known	69_37n	silent	49	23.08	15	SNP	0.386	C
KRT85	3891	genome.wustl.edu	37	12	52756741	52756741	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:52756741A>C	ENST00000257901.3	-	6	1049	c.974T>G	c.(973-975)gTg>gGg	p.V325G	KRT85_ENST00000544265.1_Missense_Mutation_p.V113G	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	325	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGCCTGATCACCGTGGCCTT	0.582																																						dbGAP											0													114.0	92.0	99.0					12																	52756741		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.974T>G	12.37:g.52756741A>C	ENSP00000257901:p.Val325Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V325G	ENST00000257901.3	37	c.974	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561561	0.65538	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.89810	-2.57;-1.2	4.65	4.65	0.58169	Filament (1);	0.000000	0.53938	D	0.000052	D	0.92057	0.7483	H	0.95151	3.63	0.51767	D	0.99993	B	0.21753	0.06	B	0.33750	0.169	D	0.91234	0.5016	10	0.87932	D	0	.	6.7509	0.23487	0.7774:0.0:0.2226:0.0	.	325	P78386	KRT85_HUMAN	G	325;113	ENSP00000257901:V325G;ENSP00000440240:V113G	ENSP00000257901:V325G	V	-	2	0	KRT85	51043008	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	6.911000	0.75746	1.958000	0.56883	0.454000	0.30748	GTG	KRT85	-	pfam_F,prints_Keratin_II	ENSG00000135443		0.582	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	166	0.00	0	A	NM_002283		52756741	52756741	-1	no_errors	ENST00000257901	ensembl	human	known	69_37n	missense	97	21.14	26	SNP	0.996	C
KRT6B	3854	genome.wustl.edu	37	12	52841596	52841596	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:52841596T>G	ENST00000252252.3	-	7	1437	c.1390A>C	c.(1390-1392)Acc>Ccc	p.T464P		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	464	Coil 2.|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)		TTGCGGTAGGTGGCGATCTCC	0.602																																						dbGAP											0													127.0	115.0	119.0					12																	52841596		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.1390A>C	12.37:g.52841596T>G	ENSP00000252252:p.Thr464Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T464P	ENST00000252252.3	37	c.1390	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289818	0.40494	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91945	-2.94	2.65	1.48	0.22813	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.64402	D	0.000010	D	0.97046	0.9035	H	0.98646	4.29	0.42659	D	0.993474	D	0.89917	1.0	D	0.91635	0.999	D	0.95339	0.8436	10	0.87932	D	0	.	8.0282	0.30448	0.0:0.1044:0.0:0.8956	.	464	P04259	K2C6B_HUMAN	P	464;424	ENSP00000252252:T464P	ENSP00000252252:T464P	T	-	1	0	KRT6B	51127863	1.000000	0.71417	0.754000	0.31244	0.163000	0.22366	5.790000	0.69038	0.438000	0.26450	0.254000	0.18369	ACC	KRT6B	-	pfam_F	ENSG00000185479		0.602	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	289	0.69	2	T	NM_005555		52841596	52841596	-1	no_errors	ENST00000252252	ensembl	human	known	69_37n	missense	206	16.19	40	SNP	1.000	G
KRT72	140807	genome.wustl.edu	37	12	52981449	52981449	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:52981449T>G	ENST00000537672.2	-	7	1286	c.1276A>C	c.(1276-1278)Acc>Ccc	p.T426P	KRT72_ENST00000354310.4_Missense_Mutation_p.T384P|KRT72_ENST00000293745.2_Missense_Mutation_p.T426P|KRT72_ENST00000398066.3_Missense_Mutation_p.T238P	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	426	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGCGGTAGGTGGCGATCTCC	0.627																																						dbGAP											0													110.0	100.0	103.0					12																	52981449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1276A>C	12.37:g.52981449T>G	ENSP00000441160:p.Thr426Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T426P	ENST00000537672.2	37	c.1276	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835701	0.91117	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.92	4.92	0.64577	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.53938	D	0.000056	D	0.97776	0.9270	H	0.98901	4.365	0.48975	D	0.999739	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.99425	1.0934	10	0.87932	D	0	.	15.2878	0.73843	0.0:0.0:0.0:1.0	.	384;426	B4DEI8;Q14CN4	.;K2C72_HUMAN	P	426;426;384;238	ENSP00000441160:T426P;ENSP00000293745:T426P;ENSP00000346269:T384P;ENSP00000446151:T238P	ENSP00000293745:T426P	T	-	1	0	KRT72	51267716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.207000	0.72159	2.143000	0.66587	0.528000	0.53228	ACC	KRT72	-	pfam_F	ENSG00000170486		0.627	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	214	0.93	2	T	NM_080747		52981449	52981449	-1	no_errors	ENST00000293745	ensembl	human	known	69_37n	missense	163	16.24	32	SNP	1.000	G
KRT4	3851	genome.wustl.edu	37	12	53203216	53203216	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53203216A>C	ENST00000551956.1	-	4	1277	c.785T>G	c.(784-786)gTg>gGg	p.V262G	KRT4_ENST00000293774.4_Missense_Mutation_p.V336G|KRT4_ENST00000458244.2_Missense_Mutation_p.V242G			P19013	K2C4_HUMAN	keratin 4	276	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AAGACTGTCCACCTTGGCCTC	0.542																																					Pancreas(190;284 2995 41444 45903)	dbGAP											0													128.0	136.0	133.0					12																	53203216		2189	4298	6487	-	-	-	SO:0001583	missense	0				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.785T>G	12.37:g.53203216A>C	ENSP00000448220:p.Val262Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.V336G	ENST00000551956.1	37	c.1007	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823719	0.71143	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.90385	-2.66;-1.27;-2.66	5.7	5.7	0.88788	Filament (1);	0.155597	0.30374	N	0.009776	D	0.95306	0.8477	H	0.95982	3.75	0.58432	D	0.999993	P	0.45634	0.863	P	0.48770	0.589	D	0.96432	0.9320	10	0.87932	D	0	.	15.1176	0.72416	1.0:0.0:0.0:0.0	.	276	P19013	K2C4_HUMAN	G	262;336;242	ENSP00000448220:V262G;ENSP00000293774:V336G;ENSP00000387904:V242G	ENSP00000293774:V336G	V	-	2	0	KRT4	51489483	0.242000	0.23868	1.000000	0.80357	0.760000	0.43138	3.118000	0.50414	2.308000	0.77769	0.533000	0.62120	GTG	KRT4	-	pfam_F	ENSG00000170477		0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	90	0.00	0	A	NM_002272		53203216	53203216	-1	no_errors	ENST00000293774	ensembl	human	known	69_37n	missense	84	20.00	21	SNP	1.000	C
KRTAP10-5	386680	genome.wustl.edu	37	21	45999867	45999867	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:45999867T>G	ENST00000400372.1	-	1	614	c.589A>C	c.(589-591)Act>Cct	p.T197P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	197	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGCATGAAGTGGAAGCCCCA	0.627																																						dbGAP											0													172.0	179.0	177.0					21																	45999867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.589A>C	21.37:g.45999867T>G	ENSP00000383223:p.Thr197Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.T197P	ENST00000400372.1	37	c.589	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	a	3.421	-0.118064	0.06838	.	.	ENSG00000241123	ENST00000400372	T	0.00691	5.84	2.8	-5.61	0.02489	.	.	.	.	.	T	0.00468	0.0015	N	0.02247	-0.625	0.09310	N	1	B	0.20780	0.048	B	0.37091	0.241	T	0.46020	-0.9221	9	0.25751	T	0.34	.	3.9707	0.09452	0.1707:0.0:0.3154:0.5139	.	197	P60370	KR105_HUMAN	P	197	ENSP00000383223:T197P	ENSP00000383223:T197P	T	-	1	0	KRTAP10-5	44824295	0.076000	0.21285	0.001000	0.08648	0.420000	0.31355	0.199000	0.17237	-1.324000	0.02272	-1.026000	0.02426	ACT	KRTAP10-5	-	NULL	ENSG00000241123		0.627	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	510	0.58	3	T			45999867	45999867	-1	no_errors	ENST00000400372	ensembl	human	known	69_37n	missense	429	11.79	58	SNP	0.135	G
KRTAP10-7	386675	genome.wustl.edu	37	21	46021260	46021260	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:46021260A>C	ENST00000380102.2	+	1	764	c.739A>C	c.(739-741)Acc>Ccc	p.T247P	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	247	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGTGTGCCCACCTGCTCTGA	0.647																																						dbGAP											0													154.0	151.0	152.0					21																	46021260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.739A>C	21.37:g.46021260A>C	ENSP00000369445:p.Thr247Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	NULL	p.T247P	ENST00000380102.2	37	c.739		21	.	.	.	.	.	.	.	.	.	.	a	5.223	0.226694	0.09916	.	.	ENSG00000205441	ENST00000380102	T	0.01438	4.89	3.28	-5.01	0.02991	.	.	.	.	.	T	0.01558	0.0050	M	0.70595	2.14	0.09310	N	1	P	0.42078	0.77	B	0.35813	0.211	T	0.28364	-1.0046	9	0.25106	T	0.35	.	5.2771	0.15655	0.4359:0.1466:0.4175:0.0	.	242	P60409-2	.	P	247	ENSP00000369445:T247P	ENSP00000369445:T247P	T	+	1	0	KRTAP10-7	44845688	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	-0.854000	0.04299	-1.034000	0.03295	0.327000	0.21459	ACC	KRTAP10-7	-	NULL	ENSG00000205441		0.647	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	252	0.00	0	A	NM_198689		46021260	46021260	+1	no_errors	ENST00000380102	ensembl	human	known	69_37n	missense	207	11.06	26	SNP	0.000	C
KRTAP15-1	254950	genome.wustl.edu	37	21	31812820	31812820	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:31812820A>C	ENST00000334067.3	+	1	224	c.175A>C	c.(175-177)Acc>Ccc	p.T59P		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	59						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGTGAGCCCACCAGCTGCCA	0.493																																						dbGAP											0													104.0	98.0	100.0					21																	31812820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.175A>C	21.37:g.31812820A>C	ENSP00000334866:p.Thr59Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3F4	Missense_Mutation	SNP	pfam_PMG	p.T59P	ENST00000334067.3	37	c.175	CCDS13593.1	21	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928838	0.52759	.	.	ENSG00000186970	ENST00000334067	T	0.03553	3.89	4.69	0.488	0.16848	.	0.941704	0.08808	N	0.890676	T	0.07818	0.0196	L	0.41356	1.27	0.09310	N	1	D	0.59767	0.986	P	0.61800	0.894	T	0.37056	-0.9722	10	0.45353	T	0.12	0.6003	3.8543	0.08968	0.4569:0.2809:0.2622:0.0	.	59	Q3LI76	KR151_HUMAN	P	59	ENSP00000334866:T59P	ENSP00000334866:T59P	T	+	1	0	KRTAP15-1	30734691	0.000000	0.05858	0.009000	0.14445	0.172000	0.22775	-0.264000	0.08658	0.063000	0.16370	0.533000	0.62120	ACC	KRTAP15-1	-	pfam_PMG	ENSG00000186970		0.493	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP15-1	HGNC	protein_coding	OTTHUMT00000128236.1	265	0.38	1	A			31812820	31812820	+1	no_errors	ENST00000334067	ensembl	human	known	69_37n	missense	236	13.55	37	SNP	0.010	C
KRTAP15-1	254950	genome.wustl.edu	37	21	31813013	31813013	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:31813013A>C	ENST00000334067.3	+	1	417	c.368A>C	c.(367-369)cAc>cCc	p.H123P		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	123						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCTTCTACCACCCAACTACC	0.463																																						dbGAP											0													135.0	138.0	137.0					21																	31813013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.368A>C	21.37:g.31813013A>C	ENSP00000334866:p.His123Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3F4	Missense_Mutation	SNP	pfam_PMG	p.H123P	ENST00000334067.3	37	c.368	CCDS13593.1	21	.	.	.	.	.	.	.	.	.	.	A	13.11	2.138268	0.37728	.	.	ENSG00000186970	ENST00000334067	T	0.13901	2.55	4.72	-4.64	0.03349	.	0.590254	0.15065	N	0.282556	T	0.08403	0.0209	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18999	-1.0319	10	0.59425	D	0.04	-4.5296	5.9445	0.19211	0.3537:0.3574:0.2889:0.0	.	123	Q3LI76	KR151_HUMAN	P	123	ENSP00000334866:H123P	ENSP00000334866:H123P	H	+	2	0	KRTAP15-1	30734884	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.993000	0.03720	-0.968000	0.03578	-0.363000	0.07495	CAC	KRTAP15-1	-	pfam_PMG	ENSG00000186970		0.463	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP15-1	HGNC	protein_coding	OTTHUMT00000128236.1	198	0.00	0	A			31813013	31813013	+1	no_errors	ENST00000334067	ensembl	human	known	69_37n	missense	161	18.27	36	SNP	0.000	C
KRTAP19-8	728299	genome.wustl.edu	37	21	32410706	32410706	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:32410706A>C	ENST00000382822.2	-	1	89	c.57T>G	c.(55-57)ggT>ggG	p.G19G		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	19						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						AGCCCCAGCCACCAAAGCCTC	0.537																																						dbGAP											0													110.0	127.0	121.0					21																	32410706		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.57T>G	21.37:g.32410706A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_KRTAP	p.G19	ENST00000382822.2	37	c.57	CCDS42917.1	21																																																																																			KRTAP19-8	-	pfam_KRTAP	ENSG00000206102		0.537	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP19-8	HGNC	protein_coding	OTTHUMT00000128239.3	373	0.80	3	A	NM_001099219		32410706	32410706	-1	no_errors	ENST00000382822	ensembl	human	known	69_37n	silent	388	13.36	60	SNP	0.002	C
KRTAP10-8	386681	genome.wustl.edu	37	21	46032120	46032120	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:46032120A>C	ENST00000334662.2	+	1	125	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	35	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTCCCCCAGCACCTGCACTGG	0.637																																						dbGAP											0													98.0	84.0	89.0					21																	46032120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.103A>C	21.37:g.46032120A>C	ENSP00000335565:p.Thr35Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNW4	Missense_Mutation	SNP	pfam_PMG	p.T35P	ENST00000334662.2	37	c.103	CCDS13713.1	21	.	.	.	.	.	.	.	.	.	.	a	1.439	-0.568044	0.03910	.	.	ENSG00000187766	ENST00000334662	T	0.06449	3.3	3.11	-6.22	0.02058	.	.	.	.	.	T	0.05135	0.0137	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37753	-0.9692	9	0.42905	T	0.14	.	1.1078	0.01698	0.2583:0.1085:0.3885:0.2447	.	35	P60410	KR108_HUMAN	P	35	ENSP00000335565:T35P	ENSP00000335565:T35P	T	+	1	0	KRTAP10-8	44856548	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.990000	0.00658	-2.503000	0.00509	-1.304000	0.01323	ACC	KRTAP10-8	-	pfam_PMG	ENSG00000187766		0.637	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-8	HGNC	protein_coding	OTTHUMT00000128035.1	236	0.42	1	A	NM_198695		46032120	46032120	+1	no_errors	ENST00000334662	ensembl	human	known	69_37n	missense	213	17.67	47	SNP	0.000	C
KRTAP3-3	85293	genome.wustl.edu	37	17	39150183	39150183	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:39150183T>G	ENST00000391586.1	-	1	202	c.167A>C	c.(166-168)cAc>cCc	p.H56P		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	56	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				CTGAGGAATGTGGCAGGGTGG	0.622																																						dbGAP											0													112.0	81.0	91.0					17																	39150183		2203	4296	6499	-	-	-	SO:0001583	missense	0			AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.167A>C	17.37:g.39150183T>G	ENSP00000375428:p.His56Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LP0|Q6NTD4	Missense_Mutation	SNP	pfam_Keratin_matx	p.H56P	ENST00000391586.1	37	c.167	CCDS32643.1	17	.	.	.	.	.	.	.	.	.	.	T	16.10	3.028482	0.54790	.	.	ENSG00000212899	ENST00000391586	T	0.23147	1.92	5.89	5.89	0.94794	.	0.198011	0.35407	N	0.003233	T	0.41581	0.1165	.	.	.	0.31870	N	0.61989	P	0.52842	0.956	P	0.59424	0.857	T	0.49380	-0.8946	9	0.31617	T	0.26	.	12.7497	0.57302	0.0:0.0:0.0:1.0	.	56	Q9BYR6	KRA33_HUMAN	P	56	ENSP00000375428:H56P	ENSP00000375428:H56P	H	-	2	0	KRTAP3-3	36403709	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.217000	0.42880	2.260000	0.74910	0.529000	0.55759	CAC	KRTAP3-3	-	pfam_Keratin_matx	ENSG00000212899		0.622	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP3-3	HGNC	protein_coding	OTTHUMT00000257695.1	113	0.00	0	T			39150183	39150183	-1	no_errors	ENST00000391586	ensembl	human	known	69_37n	missense	182	10.34	21	SNP	1.000	G
KRTAP5-1	387264	genome.wustl.edu	37	11	1606198	1606198	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:1606198T>C	ENST00000382171.2	-	1	315	c.282A>G	c.(280-282)ggA>ggG	p.G94G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	94	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGATCCCCCACAAG	0.677																																						dbGAP											0													34.0	50.0	45.0					11																	1606198		2195	4285	6480	-	-	-	SO:0001819	synonymous_variant	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.282A>G	11.37:g.1606198T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.G94	ENST00000382171.2	37	c.282	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1	97	0.99	1	T	NM_001005922		1606198	1606198	-1	no_errors	ENST00000382171	ensembl	human	known	69_37n	silent	129	15.92	25	SNP	0.006	C
KRTAP9-4	85280	genome.wustl.edu	37	17	39406399	39406399	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:39406399A>C	ENST00000334109.2	+	1	461	c.427A>C	c.(427-429)Acc>Ccc	p.T143P		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	143	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTTCCAGCCCACCTGTGTGTC	0.547																																						dbGAP											0													174.0	176.0	175.0					17																	39406399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.427A>C	17.37:g.39406399A>C	ENSP00000334922:p.Thr143Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAE3	Missense_Mutation	SNP	NULL	p.T143P	ENST00000334109.2	37	c.427	CCDS11386.1	17	.	.	.	.	.	.	.	.	.	.	.	15.97	2.990159	0.54041	.	.	ENSG00000241595	ENST00000334109	T	0.01084	5.36	2.33	-4.66	0.03329	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.34030	-0.9845	9	0.56958	D	0.05	.	0.2514	0.00206	0.3157:0.188:0.1389:0.3574	.	143	Q9BYQ2	KRA94_HUMAN	P	143	ENSP00000334922:T143P	ENSP00000334922:T143P	T	+	1	0	KRTAP9-4	36659925	0.381000	0.25140	0.000000	0.03702	0.551000	0.35334	0.039000	0.13884	-1.191000	0.02695	0.155000	0.16302	ACC	KRTAP9-4	-	NULL	ENSG00000241595		0.547	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-4	HGNC	protein_coding	OTTHUMT00000257306.1	447	0.44	2	A			39406399	39406399	+1	no_errors	ENST00000334109	ensembl	human	known	69_37n	missense	465	16.16	90	SNP	0.001	C
KTN1	3895	genome.wustl.edu	37	14	56146398	56146398	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:56146398T>G	ENST00000395314.3	+	43	4132	c.4064T>G	c.(4063-4065)gTg>gGg	p.V1355G	KTN1_ENST00000395311.1_Missense_Mutation_p.V1304G|KTN1_ENST00000395308.1_Missense_Mutation_p.V1304G|KTN1_ENST00000555573.1_Missense_Mutation_p.V332G|KTN1_ENST00000416613.1_Missense_Mutation_p.V1355G|KTN1_ENST00000413890.2_Missense_Mutation_p.V1304G|KTN1_ENST00000395309.3_Missense_Mutation_p.V1355G|KTN1_ENST00000554507.1_Missense_Mutation_p.V593G|KTN1_ENST00000438792.2_Missense_Mutation_p.V1298G	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1355					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CACTACCAGGTGTTAGGTAAG	0.388			T	RET	papillary thryoid																																	dbGAP		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													145.0	146.0	146.0					14																	56146398		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.4064T>G	14.37:g.56146398T>G	ENSP00000378725:p.Val1355Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.V1355G	ENST00000395314.3	37	c.4064	CCDS41957.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.33|12.33	1.905995|1.905995	0.33628|0.33628	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000554294|ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573	.|T;T;T;T;T;T;T;T;T	.|0.52057	.|1.31;1.31;1.32;1.31;1.31;1.31;1.31;0.68;0.72	6.17|6.17	-2.91|-2.91	0.05631|0.05631	.|.	.|1.170570	.|0.06664	.|N	.|0.764933	T|T	0.27169|0.27169	0.0666|0.0666	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.08055	.|0.0;0.0;0.003;0.0;0.0;0.0	T|T	0.30765|0.30765	-0.9967|-0.9967	5|10	.|0.87932	.|D	.|0	6.2216|6.2216	9.4197|9.4197	0.38544|0.38544	0.0:0.1219:0.502:0.376|0.0:0.1219:0.502:0.376	.|.	.|332;1327;593;1298;1304;1355	.|B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.|.;.;.;.;.;KTN1_HUMAN	G|G	126|1304;1355;1298;1355;1304;1304;1355;593;332	.|ENSP00000394992:V1304G;ENSP00000378720:V1355G;ENSP00000391964:V1298G;ENSP00000378725:V1355G;ENSP00000378719:V1304G;ENSP00000378722:V1304G;ENSP00000388807:V1355G;ENSP00000452073:V593G;ENSP00000451698:V332G	.|ENSP00000334083:V150G	C|V	+|+	1|2	0|0	KTN1|KTN1	55216151|55216151	0.023000|0.023000	0.18921|0.18921	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.338000|0.338000	0.19858|0.19858	-0.760000|-0.760000	0.04677|0.04677	-0.331000|-0.331000	0.08364|0.08364	TGT|GTG	KTN1	-	NULL	ENSG00000126777		0.388	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	271	0.36	1	T			56146398	56146398	+1	no_errors	ENST00000395309	ensembl	human	known	69_37n	missense	171	12.24	24	SNP	0.007	G
L3MBTL3	84456	genome.wustl.edu	37	6	130370959	130370959	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:130370959A>C	ENST00000529410.1	+	7	752	c.273A>C	c.(271-273)ccA>ccC	p.P91P	L3MBTL3_ENST00000361794.2_Silent_p.P91P|L3MBTL3_ENST00000533560.1_Intron|L3MBTL3_ENST00000526019.1_Intron|L3MBTL3_ENST00000368139.2_Intron|L3MBTL3_ENST00000368136.2_Silent_p.P91P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	91					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ggacatctccacctggatgtc	0.498																																						dbGAP											0													82.0	75.0	77.0					6																	130370959		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.273A>C	6.37:g.130370959A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.P91	ENST00000529410.1	37	c.273	CCDS34537.1	6																																																																																			L3MBTL3	-	NULL	ENSG00000198945		0.498	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	161	0.00	0	A	XM_027074		130370959	130370959	+1	no_errors	ENST00000361794	ensembl	human	known	69_37n	silent	170	11.92	23	SNP	1.000	C
L3MBTL4	91133	genome.wustl.edu	37	18	6263967	6263967	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:6263967T>G	ENST00000284898.6	-	5	398	c.198A>C	c.(196-198)gcA>gcC	p.A66A	L3MBTL4_ENST00000317931.7_Silent_p.A66A|L3MBTL4_ENST00000400104.3_Silent_p.A66A|L3MBTL4_ENST00000400105.2_Silent_p.A66A	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	66					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCTCAACAGGTGCTGCGACAG	0.443																																					Esophageal Squamous(41;748 902 17366 28959 43175)	dbGAP											0													88.0	90.0	89.0					18																	6263967		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.198A>C	18.37:g.6263967T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.A66	ENST00000284898.6	37	c.198	CCDS11839.2	18																																																																																			L3MBTL4	-	smart_Mbt,pfscan_Mbt	ENSG00000154655		0.443	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	145	0.00	0	T	NM_173464		6263967	6263967	-1	no_errors	ENST00000284898	ensembl	human	known	69_37n	silent	111	18.38	25	SNP	0.449	G
LACTB	114294	genome.wustl.edu	37	15	63433551	63433551	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:63433551T>G	ENST00000261893.4	+	6	1263	c.1191T>G	c.(1189-1191)ggT>ggG	p.G397G	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	397						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AATGGGCTGGTGGTGGATTTC	0.353																																					Melanoma(85;443 1381 6215 27308 35583)	dbGAP											0													158.0	151.0	153.0					15																	63433551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1191T>G	15.37:g.63433551T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P83096	Silent	SNP	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.G397	ENST00000261893.4	37	c.1191	CCDS10182.1	15																																																																																			LACTB	-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	ENSG00000103642		0.353	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	187	0.53	1	T	NM_032857		63433551	63433551	+1	no_errors	ENST00000261893	ensembl	human	known	69_37n	silent	244	13.17	37	SNP	0.990	G
LAMA2	3908	genome.wustl.edu	37	6	129581940	129581940	+	Silent	SNP	A	A	C	rs546362996		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:129581940A>C	ENST00000421865.2	+	15	2230	c.2181A>C	c.(2179-2181)ccA>ccC	p.P727P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	727	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCAGTGCCCACCAGGGTATA	0.438																																						dbGAP											0													190.0	170.0	177.0					6																	129581940		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2181A>C	6.37:g.129581940A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P727	ENST00000421865.2	37	c.2181	CCDS5138.1	6																																																																																			LAMA2	-	pfam_EGF_laminin	ENSG00000196569		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	170	0.58	1	A			129581940	129581940	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	silent	182	11.22	23	SNP	0.972	C
LAMA3	3909	genome.wustl.edu	37	18	21419829	21419829	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:21419829A>C	ENST00000313654.9	+	27	3513	c.3272A>C	c.(3271-3273)cAc>cCc	p.H1091P	LAMA3_ENST00000399516.3_Missense_Mutation_p.H1091P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1091	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTTTCCCTCACCTGCCCCAG	0.478																																						dbGAP											0													106.0	107.0	107.0					18																	21419829		1963	4143	6106	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3272A>C	18.37:g.21419829A>C	ENSP00000324532:p.His1091Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.H1091P	ENST00000313654.9	37	c.3272	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383435	0.25031	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17854	2.26;2.25	5.12	-10.2	0.00374	.	.	.	.	.	T	0.03220	0.0094	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35674	-0.9779	9	0.27082	T	0.32	.	1.689	0.02848	0.3587:0.3153:0.1893:0.1367	.	1091;1091	Q6VU67;Q16787	.;LAMA3_HUMAN	P	1091;1091;1089	ENSP00000324532:H1091P;ENSP00000382432:H1091P	ENSP00000324532:H1091P	H	+	2	0	LAMA3	19673827	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-2.523000	0.00949	-2.295000	0.00662	-0.182000	0.12963	CAC	LAMA3	-	NULL	ENSG00000053747		0.478	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	141	0.70	1	A	NM_000227, NM_198129		21419829	21419829	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	73	25.51	25	SNP	0.000	C
LAMA4	3910	genome.wustl.edu	37	6	112450275	112450275	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:112450275A>C	ENST00000230538.7	-	31	4533	c.4136T>G	c.(4135-4137)gTg>gGg	p.V1379G	LAMA4_ENST00000424408.2_Missense_Mutation_p.V1372G|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1372G|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1372G	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1379	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCTCTATCCACCCTGTGTTT	0.348																																						dbGAP											0													64.0	62.0	62.0					6																	112450275		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4136T>G	6.37:g.112450275A>C	ENSP00000230538:p.Val1379Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.V1379G	ENST00000230538.7	37	c.4136	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394883	0.42512	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.68	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.352416	0.29551	N	0.011840	T	0.18087	0.0434	L	0.29908	0.895	0.80722	D	1	B;B	0.20887	0.049;0.039	B;B	0.23150	0.044;0.026	T	0.06232	-1.0838	10	0.87932	D	0	.	11.7995	0.52118	0.9307:0.0:0.0693:0.0	.	1379;1372	Q16363;Q16363-2	LAMA4_HUMAN;.	G	1379;1372;1372;1372	ENSP00000230538:V1379G;ENSP00000429488:V1372G;ENSP00000374114:V1372G;ENSP00000416470:V1372G	ENSP00000230538:V1379G	V	-	2	0	LAMA4	112556968	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.065000	0.57513	0.959000	0.37980	0.477000	0.44152	GTG	LAMA4	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.348	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	182	0.00	0	A	NM_001105206		112450275	112450275	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	109	21.58	30	SNP	1.000	C
LAMC1	3915	genome.wustl.edu	37	1	183079679	183079679	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:183079679T>G	ENST00000258341.4	+	4	1168	c.911T>G	c.(910-912)gTg>gGg	p.V304G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	304	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GATAAGCTGGTGTGTAATTGC	0.443																																						dbGAP											0													171.0	167.0	168.0					1																	183079679		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.911T>G	1.37:g.183079679T>G	ENSP00000258341:p.Val304Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.V304G	ENST00000258341.4	37	c.911	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892507	0.52121	.	.	ENSG00000135862	ENST00000258341	T	0.64085	-0.08	4.73	3.6	0.41247	EGF-like, laminin (3);	0.122006	0.56097	D	0.000040	T	0.65322	0.2680	M	0.87617	2.895	0.80722	D	1	B	0.18610	0.029	B	0.25884	0.064	T	0.64232	-0.6456	10	0.72032	D	0.01	.	8.1318	0.31031	0.0:0.1664:0.0:0.8336	.	304	P11047	LAMC1_HUMAN	G	304	ENSP00000258341:V304G	ENSP00000258341:V304G	V	+	2	0	LAMC1	181346302	1.000000	0.71417	0.984000	0.44739	0.922000	0.55478	2.985000	0.49362	0.672000	0.31204	0.260000	0.18958	GTG	LAMC1	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000135862		0.443	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	149	0.00	0	T	NM_002293		183079679	183079679	+1	no_errors	ENST00000258341	ensembl	human	known	69_37n	missense	265	12.50	38	SNP	0.998	G
LAMC2	3918	genome.wustl.edu	37	1	183208514	183208514	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:183208514T>G	ENST00000264144.4	+	20	2950	c.2885T>G	c.(2884-2886)gTg>gGg	p.V962G	LAMC2_ENST00000493293.1_Missense_Mutation_p.V962G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	962	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GACCTGCAGGTGGACAACAGA	0.418																																						dbGAP											0													81.0	96.0	91.0					1																	183208514		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2885T>G	1.37:g.183208514T>G	ENSP00000264144:p.Val962Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.V962G	ENST00000264144.4	37	c.2885	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602240	0.66445	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.79653	2.03;-1.29	5.17	5.17	0.71159	.	0.091385	0.46145	D	0.000307	D	0.87450	0.6180	M	0.83483	2.645	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.997	P;P;P	0.59546	0.696;0.859;0.84	D	0.88843	0.3314	10	0.87932	D	0	.	9.8403	0.40996	0.0:0.0874:0.0:0.9126	.	962;962;962	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	G	962	ENSP00000432063:V962G;ENSP00000264144:V962G	ENSP00000264144:V962G	V	+	2	0	LAMC2	181475137	1.000000	0.71417	0.785000	0.31869	0.739000	0.42172	5.234000	0.65343	1.946000	0.56461	0.402000	0.26972	GTG	LAMC2	-	NULL	ENSG00000058085		0.418	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	203	0.00	0	T	NM_005562		183208514	183208514	+1	no_errors	ENST00000264144	ensembl	human	known	69_37n	missense	233	17.89	51	SNP	0.971	G
LAMB3	3914	genome.wustl.edu	37	1	209796405	209796405	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:209796405A>C	ENST00000356082.4	-	17	2612	c.2478T>G	c.(2476-2478)ggT>ggG	p.G826G	LAMB3_ENST00000391911.1_Silent_p.G826G|LAMB3_ENST00000367030.3_Silent_p.G826G|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	826	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGAAGGCCCCACCGGCCCTGG	0.647																																						dbGAP											0													57.0	68.0	64.0					1																	209796405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2478T>G	1.37:g.209796405A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.G826	ENST00000356082.4	37	c.2478	CCDS1487.1	1																																																																																			LAMB3	-	NULL	ENSG00000196878		0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	63	0.00	0	A	NM_000228		209796405	209796405	-1	no_errors	ENST00000356082	ensembl	human	known	69_37n	silent	105	18.94	25	SNP	0.014	C
LARS	51520	genome.wustl.edu	37	5	145562183	145562183	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:145562183A>C	ENST00000394434.2	-	0	40				LARS_ENST00000274562.9_5'Flank|LARS_ENST00000510191.1_5'UTR|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_5'Flank	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CACGCTTCACACCTGCTGAGG	0.587																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.-127T>G	5.37:g.145562183A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	RNA	SNP	-	NULL	ENST00000394434.2	37	NULL	CCDS34265.1	5																																																																																			LARS	-	-	ENSG00000133706		0.587	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	44	0.00	0	A	NM_020117		145562183	145562183	-1	no_errors	ENST00000505223	ensembl	human	known	69_37n	rna	32	21.95	9	SNP	0.000	C
LARS2	23395	genome.wustl.edu	37	3	45518026	45518026	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:45518026A>C	ENST00000415258.1	+	9	1066	c.925A>C	c.(925-927)Acc>Ccc	p.T309P	LARS2_ENST00000414984.1_Missense_Mutation_p.T266P|LARS2_ENST00000265537.3_Missense_Mutation_p.T309P			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	309					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CATTTATGGCACCTCCCACGT	0.562																																						dbGAP											0													93.0	91.0	91.0					3																	45518026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.925A>C	3.37:g.45518026A>C	ENSP00000408576:p.Thr309Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-synth_Ia_bac/mito,tigrfam_Leu-tRNA-synth_Ia_bac/mito	p.T309P	ENST00000415258.1	37	c.925	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489451	0.44249	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.35605	1.3;1.3;1.3	5.45	-4.94	0.03057	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.403646	0.28766	N	0.014203	T	0.18509	0.0444	N	0.17345	0.48	0.09310	N	1	B;B	0.29646	0.253;0.117	B;B	0.29716	0.106;0.106	T	0.13872	-1.0493	10	0.87932	D	0	-2.3856	10.3097	0.43702	0.2731:0.0:0.6098:0.1171	.	266;309	E9PHM2;Q15031	.;SYLM_HUMAN	P	309;309;266	ENSP00000265537:T309P;ENSP00000408576:T309P;ENSP00000412893:T266P	ENSP00000265537:T309P	T	+	1	0	LARS2	45493030	0.963000	0.33076	0.019000	0.16419	0.854000	0.48673	1.034000	0.30204	-0.848000	0.04163	0.460000	0.39030	ACC	LARS2	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_bac/mito	ENSG00000011376		0.562	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	154	0.64	1	A	NM_015340		45518026	45518026	+1	no_errors	ENST00000265537	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	0.158	C
LCE3D	84648	genome.wustl.edu	37	1	152552374	152552374	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:152552374T>G	ENST00000368787.3	-	2	95	c.39A>C	c.(37-39)ccA>ccC	p.P13P		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	13					keratinization (GO:0031424)					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGGGGGTTGGC	0.562																																						dbGAP											0													101.0	109.0	106.0					1																	152552374		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.39A>C	1.37:g.152552374T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL1	Silent	SNP	NULL	p.P13	ENST00000368787.3	37	c.39	CCDS1014.1	1																																																																																			LCE3D	-	NULL	ENSG00000163202		0.562	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3D	HGNC	protein_coding	OTTHUMT00000034504.1	186	0.00	0	T	NM_032563		152552374	152552374	-1	no_errors	ENST00000368787	ensembl	human	known	69_37n	silent	228	15.50	42	SNP	0.996	G
LCLAT1	253558	genome.wustl.edu	37	2	30863242	30863242	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:30863242A>C	ENST00000309052.4	+	7	1211	c.1002A>C	c.(1000-1002)ccA>ccC	p.P334P	LCLAT1_ENST00000379509.3_Silent_p.P296P|LCLAT1_ENST00000540623.1_Silent_p.P296P|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	334					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GTGTCATTCCACCTTGCAAGT	0.453																																						dbGAP											0													146.0	139.0	141.0					2																	30863242		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1002A>C	2.37:g.30863242A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Z7|Q8N1Q7	Silent	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.P334	ENST00000309052.4	37	c.1002	CCDS1772.1	2																																																																																			LCLAT1	-	NULL	ENSG00000172954		0.453	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	265	0.00	0	A	NM_182551		30863242	30863242	+1	no_errors	ENST00000309052	ensembl	human	known	69_37n	silent	216	13.94	35	SNP	0.019	C
LCP1	3936	genome.wustl.edu	37	13	46722523	46722523	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:46722523A>C	ENST00000398576.2	-	12	1330	c.942T>G	c.(940-942)ggT>ggG	p.G314G	LCP1_ENST00000323076.2_Silent_p.G314G			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	314	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CAGCAGGAACACCTTCTTCAT	0.428			T	BCL6	NHL																																	dbGAP		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													263.0	257.0	259.0					13																	46722523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.942T>G	13.37:g.46722523A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R613|B4DUA0|Q5TBN4	Silent	SNP	pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.G314	ENST00000398576.2	37	c.942	CCDS9403.1	13																																																																																			LCP1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000136167		0.428	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	HGNC	protein_coding	OTTHUMT00000044800.3	651	0.76	5	A	NM_002298		46722523	46722523	-1	no_errors	ENST00000323076	ensembl	human	known	69_37n	silent	498	11.52	65	SNP	0.000	C
LELP1	149018	genome.wustl.edu	37	1	153177406	153177406	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:153177406A>C	ENST00000368747.1	+	2	333	c.223A>C	c.(223-225)Acc>Ccc	p.T75P		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	75	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCCCTGCACCAAGCCCTG	0.622																																						dbGAP											0													119.0	94.0	103.0					1																	153177406		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.223A>C	1.37:g.153177406A>C	ENSP00000357736:p.Thr75Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4E1	Missense_Mutation	SNP	NULL	p.T75P	ENST00000368747.1	37	c.223	CCDS30869.1	1	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150354	0.06585	.	.	ENSG00000203784	ENST00000368747	.	.	.	3.39	-6.78	0.01721	.	0.956984	0.08619	N	0.918755	T	0.04543	0.0124	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	8	0.27785	T	0.31	3.0024	0.8835	0.01239	0.3826:0.2752:0.1466:0.1956	.	75	Q5T871	LELP1_HUMAN	P	75	.	ENSP00000357736:T75P	T	+	1	0	LELP1	151444030	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.063000	0.01388	-1.964000	0.01012	-2.216000	0.00297	ACC	LELP1	-	NULL	ENSG00000203784		0.622	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LELP1	HGNC	protein_coding	OTTHUMT00000039104.1	118	0.84	1	A	NM_001010857		153177406	153177406	+1	no_errors	ENST00000368747	ensembl	human	known	69_37n	missense	200	11.30	26	SNP	0.000	C
LEP	3952	genome.wustl.edu	37	7	127894539	127894539	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:127894539A>C	ENST00000308868.4	+	3	278	c.227A>C	c.(226-228)gAc>gCc	p.D76A		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	76					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						TCCAAGATGGACCAGACACTG	0.517																																						dbGAP											0													150.0	142.0	145.0					7																	127894539		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.227A>C	7.37:g.127894539A>C	ENSP00000312652:p.Asp76Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O15158|Q56A88	Missense_Mutation	SNP	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin	p.D76A	ENST00000308868.4	37	c.227	CCDS5800.1	7	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264411	0.39995	.	.	ENSG00000174697	ENST00000308868	T	0.76968	-1.06	5.57	4.39	0.52855	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.192310	0.36482	N	0.002561	D	0.86222	0.5881	M	0.80183	2.485	0.38364	D	0.944691	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.86042	0.1520	10	0.39692	T	0.17	-28.7859	9.4963	0.38991	0.8219:0.1781:0.0:0.0	.	76;76	A4D0Y8;P41159	.;LEP_HUMAN	A	76	ENSP00000312652:D76A	ENSP00000312652:D76A	D	+	2	0	LEP	127681775	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.236000	0.51336	0.911000	0.36747	0.533000	0.62120	GAC	LEP	-	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin	ENSG00000174697		0.517	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEP	HGNC	protein_coding	OTTHUMT00000349174.1	161	0.62	1	A			127894539	127894539	+1	no_errors	ENST00000308868	ensembl	human	known	69_37n	missense	151	14.53	26	SNP	1.000	C
LGALS13	29124	genome.wustl.edu	37	19	40095243	40095243	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:40095243T>G	ENST00000221797.4	+	2	62	c.17T>G	c.(16-18)gTg>gGg	p.V6G		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	6	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTCTGGCAGGTGCCATACAAA	0.493																																						dbGAP											0													151.0	128.0	136.0					19																	40095243		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.16-1T>G	19.37:g.40095243T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C5HZ15	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.V6G	ENST00000221797.4	37	c.17	CCDS33024.1	19	.	.	.	.	.	.	.	.	.	.	.	12.20	1.867690	0.32977	.	.	ENSG00000105198	ENST00000221797	T	0.18174	2.23	0.817	0.817	0.18773	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.42131	0.1189	M	0.92604	3.325	0.09310	N	0.999991	D	0.89917	1.0	D	0.79108	0.992	T	0.20306	-1.0279	9	0.32370	T	0.25	.	3.8905	0.09117	0.0:0.0:0.0:1.0	.	6	Q9UHV8	PP13_HUMAN	G	6	ENSP00000221797:V6G	ENSP00000221797:V6G	V	+	2	0	LGALS13	44787083	0.171000	0.23029	0.027000	0.17364	0.316000	0.28119	1.194000	0.32174	0.595000	0.29777	0.260000	0.18958	GTG	LGALS13	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000105198		0.493	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS13	HGNC	protein_coding	OTTHUMT00000464968.1	122	0.81	1	T	NM_013268	Missense_Mutation	40095243	40095243	+1	no_errors	ENST00000221797	ensembl	human	known	69_37n	missense	108	24.48	35	SNP	0.038	G
LGALS16	148003	genome.wustl.edu	37	19	40148524	40148524	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:40148524T>G	ENST00000392051.3	+	2	85	c.17T>G	c.(16-18)gTg>gGg	p.V6G		NM_001190441.1	NP_001177370.1			lectin, galactoside-binding, soluble, 16																		CCCTGGCAGGTGCCATACAAA	0.498																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS54267.1	19q13.2	2011-08-04			ENSG00000249861	ENSG00000249861		"""Lectins, galactoside-binding"""	40039	protein-coding gene	gene with protein product						19497882	Standard	NM_001190441		Approved		uc021uun.1	A8MUM7		ENST00000392051.3:c.16-1T>G	19.37:g.40148524T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.V6G	ENST00000392051.3	37	c.17	CCDS54267.1	19	.	.	.	.	.	.	.	.	.	.	.	14.27	2.483859	0.44147	.	.	ENSG00000249861	ENST00000392051	T	0.11063	2.81	1.21	1.21	0.21127	.	.	.	.	.	T	0.33381	0.0861	M	0.92026	3.265	0.09310	N	0.999999	D	0.76494	0.999	D	0.70227	0.968	T	0.08066	-1.0740	9	0.66056	D	0.02	.	4.5062	0.11889	0.0:0.0:0.0:1.0	.	6	A8MUM7	LEG16_HUMAN	G	6	ENSP00000375904:V6G	ENSP00000375904:V6G	V	+	2	0	LGALS16	44840364	0.035000	0.19736	0.033000	0.17914	0.612000	0.37316	1.386000	0.34419	0.514000	0.28300	0.163000	0.16589	GTG	LGALS16	-	superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000249861		0.498	LGALS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS16	HGNC	protein_coding	OTTHUMT00000465022.1	121	0.00	0	T		Missense_Mutation	40148524	40148524	+1	no_errors	ENST00000392051	ensembl	human	known	69_37n	missense	101	18.40	23	SNP	0.018	G
LGR5	8549	genome.wustl.edu	37	12	71978451	71978451	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:71978451A>C	ENST00000266674.5	+	18	2972	c.2661A>C	c.(2659-2661)tcA>tcC	p.S887S	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Silent_p.S863S|LGR5_ENST00000536515.1_Silent_p.S815S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	887					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCGTGCCATCACCAGCTTATC	0.453																																						dbGAP											0													138.0	131.0	133.0					12																	71978451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2661A>C	12.37:g.71978451A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.S887	ENST00000266674.5	37	c.2661	CCDS9000.1	12																																																																																			LGR5	-	NULL	ENSG00000139292		0.453	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	244	0.00	0	A	NM_003667		71978451	71978451	+1	no_errors	ENST00000266674	ensembl	human	known	69_37n	silent	217	16.15	42	SNP	0.073	C
LHCGR	3973	genome.wustl.edu	37	2	48914907	48914907	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:48914907T>G	ENST00000294954.7	-	11	2050	c.2029A>C	c.(2029-2031)Acc>Ccc	p.T677P	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.T615P|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.T650P	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	677					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AACTTCAAGGTGGATTGAGAA	0.413																																						dbGAP											0													123.0	119.0	120.0					2																	48914907		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.2029A>C	2.37:g.48914907T>G	ENSP00000294954:p.Thr677Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.T677P	ENST00000294954.7	37	c.2029	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	T	2.231	-0.376057	0.05034	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.77229	-1.08;-0.92;-0.99	5.4	-1.63	0.08345	.	0.836654	0.10921	N	0.619405	T	0.62097	0.2400	L	0.42245	1.32	0.09310	N	1	B	0.33000	0.393	B	0.31614	0.133	T	0.49698	-0.8912	9	.	.	.	.	2.6794	0.05089	0.1235:0.3663:0.1273:0.3828	.	677	P22888	LSHR_HUMAN	P	615;677;650	ENSP00000344301:T615P;ENSP00000294954:T677P;ENSP00000386033:T650P	.	T	-	1	0	LHCGR	48768411	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.287000	0.08388	-0.123000	0.11745	0.477000	0.44152	ACC	LHCGR	-	prints_LSH_rcpt	ENSG00000138039		0.413	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	274	0.00	0	T	NM_000233.3		48914907	48914907	-1	no_errors	ENST00000294954	ensembl	human	known	69_37n	missense	229	17.14	48	SNP	0.000	G
LHX8	431707	genome.wustl.edu	37	1	75622661	75622661	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:75622661A>C	ENST00000294638.5	+	9	1558	c.894A>C	c.(892-894)ccA>ccC	p.P298P	LHX8_ENST00000356261.3_Silent_p.P288P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	298					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGCAGTCCCACCCTCCAGGC	0.502																																						dbGAP											0													264.0	230.0	242.0					1																	75622661		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.894A>C	1.37:g.75622661A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGE3	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.P298	ENST00000294638.5	37	c.894	CCDS30756.1	1																																																																																			LHX8	-	NULL	ENSG00000162624		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	HGNC	protein_coding	OTTHUMT00000026700.1	317	0.00	0	A	NM_001001933		75622661	75622661	+1	no_errors	ENST00000294638	ensembl	human	known	69_37n	silent	198	19.68	49	SNP	1.000	C
LIM2	3982	genome.wustl.edu	37	19	51883785	51883785	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:51883785A>C	ENST00000596399.1	-	4	481	c.434T>G	c.(433-435)gTg>gGg	p.V145G	LIM2_ENST00000221973.3_Missense_Mutation_p.V187G	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	145					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GAGCACTGCCACCCAGCCCAG	0.617																																						dbGAP											0													156.0	155.0	155.0					19																	51883785		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.434T>G	19.37:g.51883785A>C	ENSP00000472090:p.Val145Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.V187G	ENST00000596399.1	37	c.560	CCDS59415.1	19	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842330	0.71488	.	.	ENSG00000105370	ENST00000221973	D	0.91464	-2.85	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93395	0.6755	10	0.52906	T	0.07	-17.8803	12.201	0.54326	1.0:0.0:0.0:0.0	.	145;187	P55344;P55344-2	LMIP_HUMAN;.	G	187	ENSP00000221973:V187G	ENSP00000221973:V187G	V	-	2	0	LIM2	56575597	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.436000	0.73417	1.769000	0.52152	0.533000	0.62120	GTG	LIM2	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20	ENSG00000105370		0.617	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1	93	0.00	0	A	NM_030657		51883785	51883785	-1	no_errors	ENST00000221973	ensembl	human	known	69_37n	missense	139	16.17	27	SNP	1.000	C
LILRB2	10288	genome.wustl.edu	37	19	54782146	54782146	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:54782146T>G	ENST00000391749.4	-	7	1497	c.1226A>C	c.(1225-1227)cAc>cCc	p.H409P	LILRB2_ENST00000391748.1_Missense_Mutation_p.H409P|LILRB2_ENST00000314446.5_Missense_Mutation_p.H409P|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.H409P|LILRB2_ENST00000434421.1_Missense_Mutation_p.H293P	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	409	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCACTGGGGTGAGACAGCAG	0.632																																						dbGAP											0													81.0	76.0	77.0					19																	54782146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1226A>C	19.37:g.54782146T>G	ENSP00000375629:p.His409Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H409P	ENST00000391749.4	37	c.1226	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	T	3.018	-0.202393	0.06219	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82	1.76	-0.987	0.10249	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.151070	0.00827	N	0.001620	T	0.01940	0.0061	M	0.71581	2.175	0.09310	N	1	B;B;P	0.47545	0.002;0.001;0.897	B;B;P	0.49597	0.006;0.006;0.616	T	0.37865	-0.9687	10	0.51188	T	0.08	.	2.389	0.04373	0.2788:0.0:0.2838:0.4374	.	409;426;409	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	P	409;409;409;409;293	ENSP00000375628:H409P;ENSP00000319960:H409P;ENSP00000375629:H409P;ENSP00000375626:H409P;ENSP00000410117:H293P	ENSP00000319960:H409P	H	-	2	0	LILRB2	59473958	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.481000	0.02323	-0.293000	0.08986	0.240000	0.17902	CAC	LILRB2	-	smart_Ig_sub	ENSG00000131042		0.632	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	75	0.00	0	T			54782146	54782146	-1	no_errors	ENST00000391749	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	0.000	G
LILRA2	11027	genome.wustl.edu	37	19	55086285	55086285	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:55086285T>G	ENST00000251377.3	+	5	573	c.440T>G	c.(439-441)gTg>gGg	p.V147G	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Missense_Mutation_p.V147G|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.V135G|LILRA2_ENST00000391738.3_Missense_Mutation_p.V147G|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	147	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTCTCACAGGTGGCATTTGAC	0.572																																						dbGAP											0													175.0	160.0	165.0					19																	55086285		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.440T>G	19.37:g.55086285T>G	ENSP00000251377:p.Val147Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.V147G	ENST00000251377.3	37	c.440	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	T	8.981	0.975381	0.18736	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	2.93	-5.86	0.02304	Immunoglobulin-like fold (1);	2.721750	0.01464	N	0.015994	T	0.06188	0.0160	M	0.67517	2.055	0.09310	N	1	P;B;B;P;D	0.57571	0.774;0.0;0.43;0.552;0.98	B;B;B;B;P	0.57244	0.4;0.001;0.237;0.237;0.816	T	0.36553	-0.9743	10	0.25106	T	0.35	.	4.6974	0.12811	0.6154:0.1112:0.0:0.2734	.	147;147;135;147;147	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	G	147;147;147;147;135	ENSP00000388131:V147G;ENSP00000251377:V147G;ENSP00000375618:V147G;ENSP00000251376:V147G;ENSP00000375617:V135G	ENSP00000251376:V147G	V	+	2	0	LILRA2	59778097	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.431000	0.01023	-1.764000	0.01305	0.416000	0.27883	GTG	LILRA2	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239998		0.572	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	191	0.00	0	T			55086285	55086285	+1	no_errors	ENST00000251377	ensembl	human	known	69_37n	missense	85	19.63	21	SNP	0.000	G
LINGO1	84894	genome.wustl.edu	37	15	77907410	77907410	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:77907410T>G	ENST00000355300.6	-	2	1013	c.839A>C	c.(838-840)tAc>tCc	p.Y280S	LINGO1_ENST00000561030.1_Missense_Mutation_p.Y274S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	280					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GACGGCCAGGTAGGGCACAGC	0.592																																						dbGAP											0													115.0	116.0	115.0					15																	77907410		2192	4287	6479	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.839A>C	15.37:g.77907410T>G	ENSP00000347451:p.Tyr280Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y280S	ENST00000355300.6	37	c.839	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043414	0.36085	.	.	ENSG00000169783	ENST00000355300	T	0.79033	-1.23	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	L	0.48642	1.525	0.80722	D	1	P	0.34662	0.462	B	0.33392	0.163	T	0.66500	-0.5908	10	0.08599	T	0.76	.	15.3193	0.74109	0.0:0.0:0.0:1.0	.	280	Q96FE5	LIGO1_HUMAN	S	280	ENSP00000347451:Y280S	ENSP00000347451:Y280S	Y	-	2	0	LINGO1	75694465	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.040000	0.89188	2.033000	0.60031	0.379000	0.24179	TAC	LINGO1	-	NULL	ENSG00000169783		0.592	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	48	0.00	0	T	NM_032808		77907410	77907410	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	12	45.83	11	SNP	1.000	G
LINGO1	84894	genome.wustl.edu	37	15	77907578	77907578	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:77907578T>G	ENST00000355300.6	-	2	845	c.671A>C	c.(670-672)cAc>cCc	p.H224P	LINGO1_ENST00000561030.1_Missense_Mutation_p.H218P	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	224					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GATGTTGAGGTGCCGGAGCCT	0.597																																						dbGAP											0													112.0	121.0	118.0					15																	77907578		2176	4275	6451	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.671A>C	15.37:g.77907578T>G	ENSP00000347451:p.His224Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H224P	ENST00000355300.6	37	c.671	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	T	11.78	1.739859	0.30865	.	.	ENSG00000169783	ENST00000355300	T	0.80214	-1.35	5.47	5.47	0.80525	.	0.143553	0.64402	D	0.000007	T	0.81866	0.4913	M	0.80422	2.495	0.58432	D	0.999991	B	0.10296	0.003	B	0.15052	0.012	T	0.78966	-0.1995	10	0.45353	T	0.12	.	15.5531	0.76170	0.0:0.0:0.0:1.0	.	224	Q96FE5	LIGO1_HUMAN	P	224	ENSP00000347451:H224P	ENSP00000347451:H224P	H	-	2	0	LINGO1	75694633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.242000	0.72376	2.087000	0.62958	0.459000	0.35465	CAC	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.597	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	85	0.00	0	T	NM_032808		77907578	77907578	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	1.000	G
LINGO4	339398	genome.wustl.edu	37	1	151773670	151773670	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:151773670A>C	ENST00000368820.3	-	2	2448	c.1511T>G	c.(1510-1512)gTg>gGg	p.V504G	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	504						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTGGTTCCACCTGGATGAC	0.572																																						dbGAP											0													188.0	187.0	188.0					1																	151773670		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1511T>G	1.37:g.151773670A>C	ENSP00000357810:p.Val504Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,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.V504G	ENST00000368820.3	37	c.1511	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	A	6.438	0.448953	0.12223	.	.	ENSG00000213171	ENST00000368820	T	0.61742	0.08	5.35	5.35	0.76521	Immunoglobulin-like fold (1);	0.324485	0.22346	N	0.061269	T	0.23210	0.0561	N	0.08118	0	0.43798	D	0.996342	B	0.29378	0.243	B	0.30716	0.119	T	0.14699	-1.0463	10	0.32370	T	0.25	.	13.3363	0.60520	1.0:0.0:0.0:0.0	.	504	Q6UY18	LIGO4_HUMAN	G	504	ENSP00000357810:V504G	ENSP00000357810:V504G	V	-	2	0	LINGO4	150040294	0.137000	0.22531	0.046000	0.18839	0.709000	0.40893	3.135000	0.50546	2.242000	0.73789	0.528000	0.53228	GTG	LINGO4	-	NULL	ENSG00000213171		0.572	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	202	0.00	0	A	XM_291387		151773670	151773670	-1	no_errors	ENST00000368820	ensembl	human	known	69_37n	missense	239	11.72	32	SNP	0.428	C
LIPE	3991	genome.wustl.edu	37	19	42912250	42912250	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:42912250T>G	ENST00000244289.4	-	4	1810	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	512					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CGGCCGCTGGTGAAGAGAGAG	0.627																																						dbGAP											0													71.0	79.0	76.0					19																	42912250		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1534A>C	19.37:g.42912250T>G	ENSP00000244289:p.Thr512Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.T512P	ENST00000244289.4	37	c.1534	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747657	0.69533	.	.	ENSG00000079435	ENST00000244289	T	0.46819	0.86	4.3	1.97	0.26223	Hormone-sensitive lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.62502	0.2433	M	0.78801	2.425	0.41359	D	0.987415	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.60777	-0.7196	10	0.51188	T	0.08	-12.168	5.9829	0.19417	0.0:0.0936:0.1647:0.7417	.	512;512	A8K8W7;Q05469	.;LIPS_HUMAN	P	512	ENSP00000244289:T512P	ENSP00000244289:T512P	T	-	1	0	LIPE	47604090	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	3.038000	0.49783	0.627000	0.30340	0.459000	0.35465	ACC	LIPE	-	pfam_HSL_N	ENSG00000079435		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	105	0.93	1	T	NM_005357		42912250	42912250	-1	no_errors	ENST00000244289	ensembl	human	known	69_37n	missense	62	31.52	29	SNP	1.000	G
LIPE	3991	genome.wustl.edu	37	19	42931008	42931008	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:42931008T>G	ENST00000244289.4	-	1	570	c.294A>C	c.(292-294)tcA>tcC	p.S98S	LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	98					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGATGTAAGGTGATTGCTGTG	0.502																																						dbGAP											0													173.0	178.0	177.0					19																	42931008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.294A>C	19.37:g.42931008T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LRT2|Q6NSL7	Silent	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.S98	ENST00000244289.4	37	c.294	CCDS12607.1	19																																																																																			LIPE	-	NULL	ENSG00000079435		0.502	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	172	0.00	0	T	NM_005357		42931008	42931008	-1	no_errors	ENST00000244289	ensembl	human	known	69_37n	silent	139	13.66	22	SNP	0.857	G
LIPF	8513	genome.wustl.edu	37	10	90431603	90431603	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:90431603A>C	ENST00000238983.4	+	6	596	c.550A>C	c.(550-552)Acc>Ccc	p.T184P	LIPF_ENST00000608620.1_Missense_Mutation_p.T151P|LIPF_ENST00000394375.3_Missense_Mutation_p.T194P|LIPF_ENST00000355843.2_Missense_Mutation_p.T161P	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	184					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TGCCTTTTCCACCAATCCCAG	0.363																																						dbGAP											0													250.0	260.0	256.0					10																	90431603		2203	4300	6503	-	-	-	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.550A>C	10.37:g.90431603A>C	ENSP00000238983:p.Thr184Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.T194P	ENST00000238983.4	37	c.580	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582127	0.46006	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.62364	0.03;0.03;0.03	4.97	4.97	0.65823	Alpha/beta hydrolase fold-1 (1);	0.350522	0.24774	N	0.035701	D	0.84822	0.5557	H	0.95982	3.75	0.44168	D	0.996976	D;D;D;D	0.89917	0.992;1.0;0.992;1.0	D;D;D;D	0.83275	0.962;0.993;0.944;0.996	D	0.88573	0.3131	10	0.52906	T	0.07	-23.3584	13.759	0.62954	1.0:0.0:0.0:0.0	.	151;194;161;184	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	P	194;184;151	ENSP00000377900:T194P;ENSP00000238983:T184P;ENSP00000348101:T151P	ENSP00000238983:T184P	T	+	1	0	LIPF	90421583	0.907000	0.30839	0.971000	0.41717	0.115000	0.19883	5.820000	0.69250	2.088000	0.63022	0.477000	0.44152	ACC	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.363	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	1002	0.50	5	A			90431603	90431603	+1	no_errors	ENST00000394375	ensembl	human	known	69_37n	missense	873	10.74	105	SNP	0.873	C
LIPG	9388	genome.wustl.edu	37	18	47107797	47107797	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:47107797T>G	ENST00000261292.4	+	6	1084	c.806T>G	c.(805-807)gTg>gGg	p.V269G	LIPG_ENST00000577628.1_Missense_Mutation_p.V305G|LIPG_ENST00000580036.1_Missense_Mutation_p.V269G|LIPG_ENST00000427224.2_Missense_Mutation_p.V195G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	269					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ATCACAGAGGTGGTAAAATGT	0.473																																					Pancreas(126;280 1778 12814 26243 34948)	dbGAP											0													84.0	82.0	83.0					18																	47107797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.806T>G	18.37:g.47107797T>G	ENSP00000261292:p.Val269Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep,pfscan_LipOase_LH2	p.V269G	ENST00000261292.4	37	c.806	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796719	0.31777	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91011	-2.77;-2.77	5.49	-4.11	0.03928	Lipase, N-terminal (1);	0.516613	0.21936	N	0.066949	T	0.78742	0.4331	N	0.13198	0.31	0.31611	N	0.651441	B;B;B	0.19935	0.04;0.013;0.008	B;B;B	0.24269	0.052;0.032;0.014	T	0.64415	-0.6413	10	0.62326	D	0.03	-28.5504	9.0417	0.36322	0.0:0.1818:0.5429:0.2752	.	195;269;269	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	G	269;195	ENSP00000261292:V269G;ENSP00000387978:V195G	ENSP00000261292:V269G	V	+	2	0	LIPG	45361795	0.234000	0.23783	0.012000	0.15200	0.781000	0.44180	0.226000	0.17776	-0.844000	0.04184	0.459000	0.35465	GTG	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000101670		0.473	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	154	0.64	1	T	NM_006033		47107797	47107797	+1	no_errors	ENST00000261292	ensembl	human	known	69_37n	missense	125	15.44	23	SNP	0.095	G
LMO3	55885	genome.wustl.edu	37	12	16753638	16753638	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:16753638T>G	ENST00000320122.6	-	2	679	c.157A>C	c.(157-159)Acc>Ccc	p.T53P	LMO3_ENST00000447609.1_Missense_Mutation_p.T53P|LMO3_ENST00000354662.1_Missense_Mutation_p.T53P|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000540848.1_Missense_Mutation_p.T53P|LMO3_ENST00000261169.6_Missense_Mutation_p.T64P|LMO3_ENST00000541846.1_Missense_Mutation_p.T53P|LMO3_ENST00000535535.1_Missense_Mutation_p.T53P|LMO3_ENST00000541295.1_Missense_Mutation_p.T71P|LMO3_ENST00000537304.1_Missense_Mutation_p.T53P|LMO3_ENST00000441439.2_Missense_Mutation_p.T53P|LMO3_ENST00000534946.1_Missense_Mutation_p.T53P	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	53	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GTGTACAGGGTGGAGCCCACC	0.478																																						dbGAP											0													150.0	129.0	136.0					12																	16753638		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.157A>C	12.37:g.16753638T>G	ENSP00000312856:p.Thr53Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T71P	ENST00000320122.6	37	c.211	CCDS8678.1	12	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835962	0.91117	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051;ENST00000545436;ENST00000540590;ENST00000538020	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	1.42;1.42;1.42;1.42;1.4;1.42;1.42;1.42;1.5;1.42;1.42;0.94;0.94;0.94;0.73;-0.14;0.12;0.45;0.99	5.72	5.72	0.89469	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	L	0.39397	1.21	0.80722	D	1	D;P;P	0.57257	0.979;0.708;0.916	P;P;P	0.62885	0.908;0.723;0.811	T	0.72221	-0.4356	10	0.54805	T	0.06	.	16.0022	0.80301	0.0:0.0:0.0:1.0	.	71;53;64	B4DG90;Q8TAP4;Q58A67	.;LMO3_HUMAN;.	P	53;53;53;53;64;53;53;53;71;53;53;53;53;53;53;53;53;53;53	ENSP00000346689:T53P;ENSP00000412479:T53P;ENSP00000413703:T53P;ENSP00000312856:T53P;ENSP00000261169:T64P;ENSP00000445751:T53P;ENSP00000446115:T53P;ENSP00000440099:T53P;ENSP00000446463:T71P;ENSP00000439275:T53P;ENSP00000444393:T53P;ENSP00000443807:T53P;ENSP00000442713:T53P;ENSP00000445193:T53P;ENSP00000441360:T53P;ENSP00000445504:T53P;ENSP00000444269:T53P;ENSP00000439989:T53P;ENSP00000446095:T53P	ENSP00000261169:T64P	T	-	1	0	LMO3	16644905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.035000	0.88872	2.184000	0.69523	0.528000	0.53228	ACC	LMO3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000048540		0.478	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	140	0.00	0	T	NM_018640		16753638	16753638	-1	no_errors	ENST00000541295	ensembl	human	known	69_37n	missense	124	16.00	24	SNP	1.000	G
LMOD1	25802	genome.wustl.edu	37	1	201915329	201915329	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:201915329A>C	ENST00000367288.4	-	1	386	c.140T>G	c.(139-141)gTg>gGg	p.V47G		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	47					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCAGCCCCACGGGAACACT	0.592																																						dbGAP											0													69.0	75.0	73.0					1																	201915329		2003	4168	6171	-	-	-	SO:0001583	missense	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.140T>G	1.37:g.201915329A>C	ENSP00000356257:p.Val47Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.V47G	ENST00000367288.4	37	c.140	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228837	0.79576	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.28895	1.59	5.93	5.93	0.95920	.	0.000000	0.36200	N	0.002722	T	0.35008	0.0917	M	0.78049	2.395	0.80722	D	1	P;P	0.39717	0.684;0.549	B;B	0.37650	0.255;0.255	T	0.37009	-0.9724	10	0.87932	D	0	-37.0321	8.8003	0.34905	0.9171:0.0:0.0829:0.0	.	47;47	B4E3S9;P29536	.;LMOD1_HUMAN	G	47	ENSP00000356257:V47G	ENSP00000356257:V47G	V	-	2	0	LMOD1	200181952	0.997000	0.39634	0.998000	0.56505	0.996000	0.88848	3.661000	0.54503	2.271000	0.75665	0.459000	0.35465	GTG	LMOD1	-	pfam_Tropomodulin	ENSG00000163431		0.592	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	73	0.00	0	A			201915329	201915329	-1	no_errors	ENST00000367288	ensembl	human	known	69_37n	missense	137	10.26	16	SNP	0.997	C
LMTK2	22853	genome.wustl.edu	37	7	97822150	97822150	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:97822150T>G	ENST00000297293.5	+	11	2666	c.2373T>G	c.(2371-2373)ggT>ggG	p.G791G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	791					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCACAAAGGGTGACGATACAG	0.448																																						dbGAP											0													124.0	128.0	127.0					7																	97822150		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2373T>G	7.37:g.97822150T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Silent	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G791	ENST00000297293.5	37	c.2373	CCDS5654.1	7																																																																																			LMTK2	-	NULL	ENSG00000164715		0.448	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	157	0.00	0	T	NM_014916		97822150	97822150	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	silent	103	12.71	15	SNP	0.000	G
LMOD2	442721	genome.wustl.edu	37	7	123302581	123302581	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:123302581T>G	ENST00000458573.2	+	2	1098	c.941T>G	c.(940-942)gTg>gGg	p.V314G	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	314						cytoskeleton (GO:0005856)											GGCAGCCAGGTGGAAATGGAG	0.542																																						dbGAP											0													92.0	90.0	91.0					7																	123302581		2135	4247	6382	-	-	-	SO:0001583	missense	0			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.941T>G	7.37:g.123302581T>G	ENSP00000411932:p.Val314Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.V314G	ENST00000458573.2	37	c.941	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969961	0.74246	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93547	-3.24	5.35	5.35	0.76521	.	.	.	.	.	D	0.92286	0.7553	N	0.05351	-0.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93382	0.6744	9	0.42905	T	0.14	-16.0443	15.6272	0.76870	0.0:0.0:0.0:1.0	.	314	Q6P5Q4	LMOD2_HUMAN	G	314;274;285	ENSP00000411932:V314G	ENSP00000405123:V285G	V	+	2	0	LMOD2	123089817	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.003000	0.63959	2.139000	0.66308	0.482000	0.46254	GTG	LMOD2	-	NULL	ENSG00000170807		0.542	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	254	0.78	2	T			123302581	123302581	+1	no_errors	ENST00000458573	ensembl	human	known	69_37n	missense	279	14.29	47	SNP	1.000	G
LPA	4018	genome.wustl.edu	37	6	161006194	161006194	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:161006194A>C	ENST00000316300.5	-	26	4217	c.4173T>G	c.(4171-4173)ggT>ggG	p.G1391G	LPA_ENST00000447678.1_Silent_p.G1391G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3899	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTGTCCATCACCTCGGTAGC	0.463																																						dbGAP											0													195.0	195.0	195.0					6																	161006194		2182	4295	6477	-	-	-	SO:0001819	synonymous_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4173T>G	6.37:g.161006194A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.G1391	ENST00000316300.5	37	c.4173	CCDS43523.1	6																																																																																			LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	367	0.27	1	A	NM_005577		161006194	161006194	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	silent	275	11.78	37	SNP	0.003	C
LPA	4018	genome.wustl.edu	37	6	161026213	161026213	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:161026213A>C	ENST00000316300.5	-	18	2854	c.2810T>G	c.(2809-2811)gTg>gGg	p.V937G	LPA_ENST00000447678.1_Missense_Mutation_p.V937G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3445	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCACTCCTGCACCCCAGGCCT	0.448																																						dbGAP											0													239.0	247.0	244.0					6																	161026213		2197	4296	6493	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2810T>G	6.37:g.161026213A>C	ENSP00000321334:p.Val937Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.V937G	ENST00000316300.5	37	c.2810	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	a	10.10	1.258505	0.23051	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.16	2.16	0.27623	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.54679	0.1873	L	0.54965	1.715	0.37156	D	0.902379	D	0.55800	0.973	P	0.58172	0.834	T	0.57148	-0.7861	9	0.52906	T	0.07	.	6.2159	0.20656	1.0:0.0:0.0:0.0	.	3445	P08519	APOA_HUMAN	G	937	ENSP00000321334:V937G;ENSP00000395608:V937G	ENSP00000321334:V937G	V	-	2	0	LPA	160946203	0.715000	0.27946	0.972000	0.41901	0.091000	0.18340	0.786000	0.26844	0.999000	0.39023	0.155000	0.16302	GTG	LPA	-	superfamily_Kringle-like	ENSG00000198670		0.448	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	499	0.60	3	A	NM_005577		161026213	161026213	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	530	11.04	66	SNP	0.979	C
LPAR4	2846	genome.wustl.edu	37	X	78010754	78010754	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:78010754A>C	ENST00000435339.3	+	2	774	c.388A>C	c.(388-390)Acc>Ccc	p.T130P		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	130					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GCTCTTTCTCACCTGTATTAG	0.463																																						dbGAP											0													222.0	165.0	184.0					X																	78010754		2203	4299	6502	-	-	-	SO:0001583	missense	0			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.388A>C	X.37:g.78010754A>C	ENSP00000408205:p.Thr130Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor	p.T130P	ENST00000435339.3	37	c.388	CCDS14441.1	X	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135363	0.56828	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.74209	-0.82;-0.82	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	H	0.97340	3.985	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.92330	0.5873	10	0.87932	D	0	.	11.3846	0.49778	1.0:0.0:0.0:0.0	.	130	Q99677	LPAR4_HUMAN	P	130	ENSP00000408205:T130P;ENSP00000362398:T130P	ENSP00000362398:T130P	T	+	1	0	LPAR4	77897410	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	6.896000	0.75665	1.561000	0.49584	0.345000	0.21793	ACC	LPAR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000147145		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR4	HGNC	protein_coding	OTTHUMT00000057322.2	293	0.00	0	A	NM_005296		78010754	78010754	+1	no_errors	ENST00000373301	ensembl	human	known	69_37n	missense	191	16.23	37	SNP	1.000	C
LPCAT4	254531	genome.wustl.edu	37	15	34652394	34652394	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:34652394A>C	ENST00000314891.6	-	12	1337	c.1160T>G	c.(1159-1161)gTg>gGg	p.V387G		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	387					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TCGGAAGTCCACCAAACCCTT	0.572																																						dbGAP											0													85.0	83.0	84.0					15																	34652394		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1160T>G	15.37:g.34652394A>C	ENSP00000317300:p.Val387Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.V387G	ENST00000314891.6	37	c.1160	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008115	0.75046	.	.	ENSG00000176454	ENST00000314891	T	0.70986	-0.53	6.07	4.94	0.65067	EF-hand-like domain (1);	0.060130	0.64402	D	0.000004	T	0.78220	0.4249	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	T	0.79203	-0.1900	10	0.87932	D	0	-13.8142	10.0636	0.42290	0.9231:0.0:0.0769:0.0	.	387	Q643R3	LPCT4_HUMAN	G	387	ENSP00000317300:V387G	ENSP00000317300:V387G	V	-	2	0	LPCAT4	32439686	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.668000	0.54554	1.114000	0.41781	0.533000	0.62120	GTG	LPCAT4	-	NULL	ENSG00000176454		0.572	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	160	0.00	0	A	NM_153613		34652394	34652394	-1	no_errors	ENST00000314891	ensembl	human	known	69_37n	missense	168	12.50	24	SNP	1.000	C
LPHN2	23266	genome.wustl.edu	37	1	82432276	82432276	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:82432276A>C	ENST00000370728.1	+	15	2965	c.2320A>C	c.(2320-2322)Acc>Ccc	p.T774P	LPHN2_ENST00000359929.3_Missense_Mutation_p.T761P|LPHN2_ENST00000370727.1_Missense_Mutation_p.T774P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.T761P|LPHN2_ENST00000335786.5_Missense_Mutation_p.T774P|LPHN2_ENST00000370721.1_Missense_Mutation_p.T699P|LPHN2_ENST00000319517.6_Missense_Mutation_p.T761P|LPHN2_ENST00000370723.1_Missense_Mutation_p.T761P|LPHN2_ENST00000394879.1_Missense_Mutation_p.T761P|LPHN2_ENST00000370725.1_Missense_Mutation_p.T774P|LPHN2_ENST00000370717.2_Missense_Mutation_p.T774P|LPHN2_ENST00000370713.1_Missense_Mutation_p.T761P|LPHN2_ENST00000370730.1_Missense_Mutation_p.T774P|LPHN2_ENST00000271029.4_Missense_Mutation_p.T774P			O95490	LPHN2_HUMAN	latrophilin 2	774					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTGCTTTTTACCCTGCCACA	0.408																																						dbGAP											0													173.0	167.0	169.0					1																	82432276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2320A>C	1.37:g.82432276A>C	ENSP00000359763:p.Thr774Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.T774P	ENST00000370728.1	37	c.2320		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.352139|4.352139	0.82132|0.82132	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.73363	.|-0.69;-0.74;-0.71;-0.66;-0.69;-0.63;-0.66;-0.68;-0.68;-0.66;-0.69;-0.63;-0.66;-0.71	6.17|6.17	5.03|5.03	0.67393|0.67393	.|.	.|0.051078	.|0.85682	.|D	.|0.000000	D|D	0.86569|0.86569	0.5964|0.5964	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.975;0.999	.|D;P;D	.|0.80764	.|0.994;0.826;0.993	D|D	0.89888|0.89888	0.4035|0.4035	5|10	.|0.87932	.|D	.|0	.|.	13.0638|13.0638	0.59022|0.59022	0.8796:0.0:0.0:0.1203|0.8796:0.0:0.0:0.1203	.|.	.|761;761;761	.|O95490-3;O95490-4;O95490-2	.|.;.;.	F|P	641|699;774;774;774;774;761;761;761;761;761;774;761;774;774	.|ENSP00000359756:T699P;ENSP00000359763:T774P;ENSP00000359765:T774P;ENSP00000359762:T774P;ENSP00000359760:T774P;ENSP00000359758:T761P;ENSP00000353006:T761P;ENSP00000359750:T761P;ENSP00000359748:T761P;ENSP00000322270:T761P;ENSP00000359752:T774P;ENSP00000378344:T761P;ENSP00000271029:T774P;ENSP00000337306:T774P	.|ENSP00000271029:T774P	L|T	+|+	3|1	2|0	LPHN2|LPHN2	82204864|82204864	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	7.497000|7.497000	0.81536|0.81536	1.117000|1.117000	0.41842|0.41842	0.533000|0.533000	0.62120|0.62120	TTA|ACC	LPHN2	-	NULL	ENSG00000117114		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	199	0.50	1	A	NM_012302		82432276	82432276	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	missense	154	19.69	38	SNP	1.000	C
LPP	4026	genome.wustl.edu	37	3	188202462	188202462	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:188202462A>C	ENST00000312675.4	+	4	522	c.276A>C	c.(274-276)ccA>ccC	p.P92P	LPP_ENST00000543006.1_Silent_p.P92P|LPP_ENST00000448637.1_Silent_p.P92P	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	92	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTCCTCCACCACCTCTTGATG	0.428			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	dbGAP		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	0													153.0	152.0	153.0					3																	188202462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.276A>C	3.37:g.188202462A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P92	ENST00000312675.4	37	c.276	CCDS3291.1	3																																																																																			LPP	-	NULL	ENSG00000145012		0.428	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	201	0.50	1	A	NM_005578		188202462	188202462	+1	no_errors	ENST00000312675	ensembl	human	known	69_37n	silent	163	15.03	29	SNP	0.295	C
LPPR4	9890	genome.wustl.edu	37	1	99771737	99771737	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:99771737T>G	ENST00000370185.3	+	7	1960	c.1463T>G	c.(1462-1464)gTa>gGa	p.V488G	LPPR4_ENST00000457765.1_Missense_Mutation_p.V430G|LPPR4_ENST00000370184.1_Missense_Mutation_p.V330G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		488					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCATCGAGGGTAGGGGTGAAT	0.532																																						dbGAP											0													123.0	124.0	124.0					1																	99771737		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000370185.3:c.1463T>G	1.37:g.99771737T>G	ENSP00000359204:p.Val488Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.V488G	ENST00000370185.3	37	c.1463	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766875	0.31320	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.24723	2.4;2.4;1.84	5.7	5.7	0.88788	.	0.210699	0.45361	D	0.000378	T	0.28267	0.0698	L	0.34521	1.04	0.80722	D	1	D;B	0.76494	0.999;0.025	D;B	0.68943	0.961;0.01	T	0.02758	-1.1114	9	.	.	.	-18.9958	15.9626	0.79941	0.0:0.0:0.0:1.0	.	430;488	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	G	488;430;488;330	ENSP00000359204:V488G;ENSP00000394913:V430G;ENSP00000359203:V330G	.	V	+	2	0	RP4-788L13.1	99544325	1.000000	0.71417	0.993000	0.49108	0.904000	0.53231	5.885000	0.69736	2.166000	0.68216	0.528000	0.53228	GTA	RP4-788L13.1	-	NULL	ENSG00000117600		0.532	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Clone_based_vega_gene	protein_coding	OTTHUMT00000029670.2	300	0.00	0	T			99771737	99771737	+1	no_errors	ENST00000370185	ensembl	human	known	69_37n	missense	133	16.88	27	SNP	1.000	G
LPPR4	9890	genome.wustl.edu	37	1	99771910	99771910	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:99771910A>C	ENST00000370185.3	+	7	2133	c.1636A>C	c.(1636-1638)Acc>Ccc	p.T546P	LPPR4_ENST00000457765.1_Missense_Mutation_p.T488P|LPPR4_ENST00000370184.1_Missense_Mutation_p.T388P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		546					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAACATAAGCACCTCCCCCAA	0.537																																						dbGAP											0													88.0	93.0	91.0					1																	99771910		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000370185.3:c.1636A>C	1.37:g.99771910A>C	ENSP00000359204:p.Thr546Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.T546P	ENST00000370185.3	37	c.1636	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354168	0.24512	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.23754	2.46;2.46;1.89	5.62	4.42	0.53409	.	0.387168	0.30969	N	0.008509	T	0.10809	0.0264	N	0.14661	0.345	0.43782	D	0.996316	P;B	0.47302	0.893;0.001	P;B	0.48454	0.578;0.002	T	0.07558	-1.0766	9	.	.	.	-16.6343	11.5829	0.50902	0.8665:0.0:0.0:0.1335	.	488;546	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	P	546;488;546;388	ENSP00000359204:T546P;ENSP00000394913:T488P;ENSP00000359203:T388P	.	T	+	1	0	RP4-788L13.1	99544498	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.627000	0.61276	2.131000	0.65755	0.482000	0.46254	ACC	RP4-788L13.1	-	NULL	ENSG00000117600		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Clone_based_vega_gene	protein_coding	OTTHUMT00000029670.2	283	0.35	1	A			99771910	99771910	+1	no_errors	ENST00000370185	ensembl	human	known	69_37n	missense	135	17.68	29	SNP	1.000	C
LPXN	9404	genome.wustl.edu	37	11	58317479	58317479	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:58317479T>G	ENST00000395074.2	-	6	715	c.627A>C	c.(625-627)ccA>ccC	p.P209P	LPXN_ENST00000528489.1_Silent_p.P189P|LPXN_ENST00000528954.1_Silent_p.P214P	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	209	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGCACAGCGTGGAGAAAAAA	0.502																																						dbGAP											0													118.0	113.0	115.0					11																	58317479		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.627A>C	11.37:g.58317479T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.P214	ENST00000395074.2	37	c.642	CCDS7969.1	11																																																																																			LPXN	-	pirsf_Leupaxin,pfscan_Znf_LIM	ENSG00000110031		0.502	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	239	0.00	0	T	NM_004811		58317479	58317479	-1	no_errors	ENST00000528954	ensembl	human	known	69_37n	silent	213	14.11	35	SNP	0.005	G
LRBA	987	genome.wustl.edu	37	4	151749400	151749400	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:151749400T>G	ENST00000357115.3	-	30	5346	c.5103A>C	c.(5101-5103)ccA>ccC	p.P1701P	LRBA_ENST00000507224.1_Silent_p.P1701P|LRBA_ENST00000535741.1_Silent_p.P1701P|LRBA_ENST00000510413.1_Silent_p.P1701P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1701						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCAGGCTGGTGGCAGAAGGG	0.453																																						dbGAP											0													142.0	124.0	130.0					4																	151749400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5103A>C	4.37:g.151749400T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom	p.H354P	ENST00000357115.3	37	c.1061	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389730	0.25118	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.72	-3.07	0.05363	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42649	-0.9439	4	.	.	.	.	5.866	0.18775	0.0:0.2631:0.2413:0.4956	.	.	.	.	P	354	.	.	H	-	2	0	LRBA	151968850	0.172000	0.23043	0.989000	0.46669	0.987000	0.75469	-0.580000	0.05827	-0.378000	0.07918	0.397000	0.26171	CAC	LRBA	-	NULL	ENSG00000198589		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	262	0.75	2	T			151749400	151749400	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509835	ensembl	human	novel	69_37n	missense	226	23.92	72	SNP	0.973	G
LRCH1	23143	genome.wustl.edu	37	13	47315872	47315872	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:47315872A>C	ENST00000389798.3	+	19	2273	c.2076A>C	c.(2074-2076)ccA>ccC	p.P692P	LRCH1_ENST00000389797.3_Silent_p.P727P|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	692										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGAAAGCCCCACCACCAACTT	0.502																																						dbGAP											0													310.0	317.0	315.0					13																	47315872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2076A>C	13.37:g.47315872A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P692	ENST00000389798.3	37	c.2076	CCDS31972.1	13																																																																																			LRCH1	-	NULL	ENSG00000136141		0.502	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	446	0.67	3	A	NM_015116		47315872	47315872	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	silent	330	14.21	55	SNP	1.000	C
LRCH1	23143	genome.wustl.edu	37	13	47315875	47315875	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:47315875A>C	ENST00000389798.3	+	19	2276	c.2079A>C	c.(2077-2079)ccA>ccC	p.P693P	LRCH1_ENST00000389797.3_Silent_p.P728P|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	693										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGCCCCACCACCAACTTCTG	0.507																																						dbGAP											0													308.0	316.0	313.0					13																	47315875		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2079A>C	13.37:g.47315875A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P693	ENST00000389798.3	37	c.2079	CCDS31972.1	13																																																																																			LRCH1	-	NULL	ENSG00000136141		0.507	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	456	0.00	0	A	NM_015116		47315875	47315875	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	silent	324	14.06	53	SNP	1.000	C
LRCH4	4034	genome.wustl.edu	37	7	100173335	100173335	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100173335A>C	ENST00000310300.6	-	17	1899	c.1847T>G	c.(1846-1848)gTg>gGg	p.V616G	LRCH4_ENST00000497245.1_Missense_Mutation_p.V164G|SAP25_ENST00000538735.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	616	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACCTCAGGCACCCCCATTTT	0.537																																						dbGAP											0													184.0	191.0	188.0					7																	100173335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1847T>G	7.37:g.100173335A>C	ENSP00000309689:p.Val616Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.V616G	ENST00000310300.6	37	c.1847	CCDS34706.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.181847|4.181847	0.78677|0.78677	.|.	.|.	ENSG00000077454|ENSG00000077454	ENST00000485554|ENST00000310300;ENST00000422462;ENST00000497245	.|D;D	.|0.95690	.|-3.78;-3.78	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Calponin homology domain (5);	.|0.069140	.|0.56097	.|D	.|0.000025	D|D	0.98049|0.98049	0.9357|0.9357	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.99	D|D	0.98722|0.98722	1.0709|1.0709	5|10	.|0.87932	.|D	.|0	-20.1504|-20.1504	11.9427|11.9427	0.52909|0.52909	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|164;616	.|C9JYK0;O75427	.|.;LRCH4_HUMAN	G|G	141|616;75;164	.|ENSP00000309689:V616G;ENSP00000419870:V164G	.|ENSP00000309689:V616G	C|V	-|-	1|2	0|0	LRCH4|LRCH4	100011271|100011271	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.489000|6.489000	0.73641|0.73641	1.994000|1.994000	0.58287|0.58287	0.454000|0.454000	0.30748|0.30748	TGC|GTG	LRCH4	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077454		0.537	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	122	0.81	1	A	NM_002319		100173335	100173335	-1	no_errors	ENST00000310300	ensembl	human	known	69_37n	missense	82	18.00	18	SNP	1.000	C
LRFN5	145581	genome.wustl.edu	37	14	42356629	42356629	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:42356629A>C	ENST00000298119.4	+	3	1990	c.801A>C	c.(799-801)ccA>ccC	p.P267P	LRFN5_ENST00000554171.1_Silent_p.P267P|LRFN5_ENST00000554120.1_Silent_p.P267P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	267	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTCTCCTCCACTTTTAACTG	0.453										HNSCC(30;0.082)																												dbGAP											0													157.0	156.0	156.0					14																	42356629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.801A>C	14.37:g.42356629A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU78|Q86XL2	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P267	ENST00000298119.4	37	c.801	CCDS9678.1	14																																																																																			LRFN5	-	NULL	ENSG00000165379		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	167	0.00	0	A	NM_152447		42356629	42356629	+1	no_errors	ENST00000298119	ensembl	human	known	69_37n	silent	135	12.34	19	SNP	0.999	C
LRIG3	121227	genome.wustl.edu	37	12	59283813	59283813	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:59283813T>G	ENST00000320743.3	-	5	910	c.624A>C	c.(622-624)ccA>ccC	p.P208P	LRIG3_ENST00000379141.4_Silent_p.P148P	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	208					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACATCTTGGGTGGGATAGCTG	0.438			T	ROS1	NSCLC																																	dbGAP		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													250.0	249.0	249.0					12																	59283813		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.624A>C	12.37:g.59283813T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXL7|Q8NC72	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P208	ENST00000320743.3	37	c.624	CCDS8960.1	12																																																																																			LRIG3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139263		0.438	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	249	0.00	0	T	NM_153377		59283813	59283813	-1	no_errors	ENST00000320743	ensembl	human	known	69_37n	silent	153	12.50	22	SNP	0.111	G
LRP11	84918	genome.wustl.edu	37	6	150164229	150164229	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:150164229T>G	ENST00000239367.2	-	3	808	c.803A>C	c.(802-804)cAc>cCc	p.H268P	LRP11_ENST00000546019.1_Missense_Mutation_p.H13P|LRP11_ENST00000367368.2_Missense_Mutation_p.H268P	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	268	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CTCCTGTAGGTGGGACAGCTT	0.587																																						dbGAP											0													126.0	96.0	106.0					6																	150164229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.803A>C	6.37:g.150164229T>G	ENSP00000239367:p.His268Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYC0|Q96SN6	Missense_Mutation	SNP	pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom	p.H268P	ENST00000239367.2	37	c.803	CCDS5220.1	6	.	.	.	.	.	.	.	.	.	.	T	18.27	3.585892	0.66105	.	.	ENSG00000120256	ENST00000239367;ENST00000546019;ENST00000367368	T;T;T	0.13420	2.59;2.59;2.59	4.9	3.69	0.42338	PKD/Chitinase domain (1);PKD domain (3);	0.494654	0.23512	N	0.047392	T	0.08492	0.0211	L	0.31065	0.9	0.30533	N	0.767271	D;D	0.69078	0.997;0.976	P;P	0.56278	0.795;0.558	T	0.09530	-1.0670	10	0.44086	T	0.13	-19.8959	9.9335	0.41537	0.0:0.084:0.0:0.916	.	268;268	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	P	268;13;268	ENSP00000239367:H268P;ENSP00000440196:H13P;ENSP00000356338:H268P	ENSP00000239367:H268P	H	-	2	0	LRP11	150205922	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	3.288000	0.51739	0.672000	0.31204	0.533000	0.62120	CAC	LRP11	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	ENSG00000120256		0.587	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP11	HGNC	protein_coding	OTTHUMT00000042664.1	67	0.00	0	T	NM_032832		150164229	150164229	-1	no_errors	ENST00000239367	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	G
LRP1B	53353	genome.wustl.edu	37	2	141093364	141093364	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:141093364A>C	ENST00000389484.3	-	78	12907	c.11936T>G	c.(11935-11937)gTg>gGg	p.V3979G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3979					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTCCAGCCACCCAGTCAAC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													123.0	117.0	119.0					2																	141093364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11936T>G	2.37:g.141093364A>C	ENSP00000374135:p.Val3979Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V3979G	ENST00000389484.3	37	c.11936	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.428469|3.428469	0.62844|0.62844	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.93763|.	-3.28|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.447061|.	0.21110|.	N|.	0.080019|.	T|T	0.78091|0.78091	0.4229|0.4229	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.38223|.	0.623|.	B|.	0.41299|.	0.353|.	T|T	0.80061|0.80061	-0.1540|-0.1540	10|5	0.87932|.	D|.	0|.	.|.	15.7866|15.7866	0.78310|0.78310	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3979|.	Q9NZR2|.	LRP1B_HUMAN|.	G|G	3979;3917|211	ENSP00000374135:V3979G|.	ENSP00000374135:V3979G|.	V|W	-|-	2|1	0|0	LRP1B|LRP1B	140809834|140809834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.798000|8.798000	0.91888|0.91888	2.180000|2.180000	0.69256|0.69256	0.528000|0.528000	0.53228|0.53228	GTG|TGG	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt	ENSG00000168702		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	166	0.60	1	A	NM_018557		141093364	141093364	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	149	10.18	17	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141259275	141259275	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:141259275T>G	ENST00000389484.3	-	55	9802	c.8831A>C	c.(8830-8832)gAc>gCc	p.D2944A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2944	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACCGGAAGGTCTTGACAGTC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													112.0	115.0	114.0					2																	141259275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8831A>C	2.37:g.141259275T>G	ENSP00000374135:p.Asp2944Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2944A	ENST00000389484.3	37	c.8831	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407392	0.83230	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88277	-2.36	5.41	5.41	0.78517	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.000000	0.85682	U	0.000000	D	0.94857	0.8338	M	0.86953	2.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.94576	0.7775	10	0.39692	T	0.17	.	15.729	0.77788	0.0:0.0:0.0:1.0	.	2944	Q9NZR2	LRP1B_HUMAN	A	2944;2882	ENSP00000374135:D2944A	ENSP00000374135:D2944A	D	-	2	0	LRP1B	140975745	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.945000	0.87732	2.183000	0.69458	0.477000	0.44152	GAC	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	140	0.00	0	T	NM_018557		141259275	141259275	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	77	18.95	18	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	169989105	169989105	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:169989105T>G	ENST00000263816.3	-	77	13992	c.13707A>C	c.(13705-13707)tcA>tcC	p.S4569S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4569					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAGCAGCTGGTGAAGTTGGGT	0.403																																						dbGAP											0													132.0	127.0	129.0					2																	169989105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13707A>C	2.37:g.169989105T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4569	ENST00000263816.3	37	c.13707	CCDS2232.1	2																																																																																			LRP2	-	NULL	ENSG00000081479		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	392	0.51	2	T	NM_004525		169989105	169989105	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	silent	299	14.33	50	SNP	0.000	G
LRP6	4040	genome.wustl.edu	37	12	12312835	12312835	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:12312835A>C	ENST00000261349.4	-	11	2419	c.2343T>G	c.(2341-2343)agT>agG	p.S781R	LRP6_ENST00000543091.1_Missense_Mutation_p.S781R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	781	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TAGTACGTTCACTTCCATCCA	0.373																																						dbGAP											0													143.0	129.0	134.0					12																	12312835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2343T>G	12.37:g.12312835A>C	ENSP00000261349:p.Ser781Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S781R	ENST00000261349.4	37	c.2343	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	A	16.01	2.999990	0.54147	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91792	-2.91;-2.91	5.47	3.15	0.36227	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.94371	0.8190	M	0.74647	2.275	0.53005	D	0.999969	P;D	0.52996	0.6;0.957	B;D	0.64506	0.143;0.926	D	0.93177	0.6571	10	0.51188	T	0.08	.	9.3158	0.37932	0.8542:0.0:0.1458:0.0	.	781;781	F5H7J9;O75581	.;LRP6_HUMAN	R	781	ENSP00000261349:S781R;ENSP00000442472:S781R	ENSP00000261349:S781R	S	-	3	2	LRP6	12204102	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.158000	0.42329	0.917000	0.36895	-0.379000	0.06801	AGT	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.373	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	198	0.00	0	A			12312835	12312835	-1	no_errors	ENST00000261349	ensembl	human	known	69_37n	missense	158	16.84	32	SNP	1.000	C
LRP8	7804	genome.wustl.edu	37	1	53728124	53728124	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:53728124T>G	ENST00000306052.6	-	11	1869	c.1768A>C	c.(1768-1770)Acc>Ccc	p.T590P	LRP8_ENST00000465675.1_Missense_Mutation_p.T143P|LRP8_ENST00000347547.2_Missense_Mutation_p.T420P|LRP8_ENST00000371454.2_Missense_Mutation_p.T590P|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000354412.3_Missense_Mutation_p.T461P	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	590					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCACCCAGGGTGATTCCGTTG	0.547																																						dbGAP											0													164.0	159.0	161.0					1																	53728124		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1768A>C	1.37:g.53728124T>G	ENSP00000303634:p.Thr590Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T590P	ENST00000306052.6	37	c.1768	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152032	0.78001	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15	5.64	2.12	0.27331	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.98507	0.9502	H	0.97516	4.02	0.53688	D	0.999977	D;D;D;D;P;D	0.64830	0.994;0.992;0.981;0.987;0.566;0.994	D;P;D;P;B;D	0.72075	0.96;0.853;0.976;0.805;0.345;0.97	D	0.97647	1.0152	9	0.87932	D	0	.	9.4641	0.38802	0.0:0.1924:0.0:0.8076	.	143;461;420;590;590;143	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	P	590;590;143;461;420	ENSP00000303634:T590P;ENSP00000360509:T590P;ENSP00000437009:T143P;ENSP00000346391:T461P;ENSP00000334522:T420P	ENSP00000303634:T590P	T	-	1	0	LRP8	53500712	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.923000	0.63412	0.209000	0.20645	-0.297000	0.09499	ACC	LRP8	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000157193		0.547	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	196	0.99	2	T	NM_004631		53728124	53728124	-1	no_errors	ENST00000306052	ensembl	human	known	69_37n	missense	149	21.35	41	SNP	1.000	G
LRRC1	55227	genome.wustl.edu	37	6	53787580	53787580	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:53787580A>C	ENST00000370888.1	+	14	1841	c.1564A>C	c.(1564-1566)Act>Cct	p.T522P	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	522						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CCGAGTGACCACTTCTGTGTA	0.483																																						dbGAP											0													202.0	210.0	207.0					6																	53787580		2006	4179	6185	-	-	-	SO:0001583	missense	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1564A>C	6.37:g.53787580A>C	ENSP00000359925:p.Thr522Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T522P	ENST00000370888.1	37	c.1564	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366488	0.82463	.	.	ENSG00000137269	ENST00000370888	T	0.39406	1.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.51204	-0.8735	10	0.62326	D	0.03	.	15.3195	0.74109	1.0:0.0:0.0:0.0	.	522	Q9BTT6	LRRC1_HUMAN	P	522	ENSP00000359925:T522P	ENSP00000359925:T522P	T	+	1	0	LRRC1	53895539	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.747000	0.91610	2.219000	0.72066	0.533000	0.62120	ACT	LRRC1	-	NULL	ENSG00000137269		0.483	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	306	0.00	0	A	NM_025168		53787580	53787580	+1	no_errors	ENST00000370888	ensembl	human	known	69_37n	missense	234	13.24	36	SNP	1.000	C
LRRC15	131578	genome.wustl.edu	37	3	194080541	194080541	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:194080541T>G	ENST00000347624.3	-	2	1317	c.1232A>C	c.(1231-1233)cAc>cCc	p.H411P	LRRC15_ENST00000439944.2_Missense_Mutation_p.H417P|LRRC15_ENST00000428839.1_Missense_Mutation_p.H417P	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	411					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTTCCCCAGGTGATCGAAGAT	0.572																																						dbGAP											0													47.0	44.0	45.0					3																	194080541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1232A>C	3.37:g.194080541T>G	ENSP00000306276:p.His411Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H417P	ENST00000347624.3	37	c.1250	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	T	9.307	1.054663	0.19907	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.36;0.36	5.2	5.2	0.72013	.	0.587239	0.16570	N	0.208679	T	0.26666	0.0652	N	0.04260	-0.245	0.35834	D	0.825549	B;B	0.14805	0.01;0.011	B;B	0.18263	0.021;0.008	T	0.30208	-0.9986	10	0.17832	T	0.49	.	6.5581	0.22471	0.0:0.0819:0.2839:0.6343	.	411;417	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	P	411;417;417	ENSP00000306276:H411P;ENSP00000389128:H417P;ENSP00000413707:H417P	ENSP00000306276:H411P	H	-	2	0	LRRC15	195561836	0.914000	0.31030	0.998000	0.56505	0.953000	0.61014	1.909000	0.39917	2.104000	0.64026	0.533000	0.62120	CAC	LRRC15	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000172061		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	34	0.00	0	T			194080541	194080541	-1	no_errors	ENST00000439944	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	G
LRRC16A	55604	genome.wustl.edu	37	6	25479371	25479371	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:25479371A>C	ENST00000329474.6	+	12	1242				LRRC16A_ENST00000377969.3_Missense_Mutation_p.T143P	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						gaatgttcccaccgttctcca	0.448																																						dbGAP											0													374.0	357.0	362.0					6																	25479371		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.875-3114A>C	6.37:g.25479371A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	NULL	p.T143P	ENST00000329474.6	37	c.427	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	A	7.410	0.634499	0.14322	.	.	ENSG00000079691	ENST00000377969	.	.	.	1.41	-0.861	0.10676	.	.	.	.	.	T	0.06462	0.0166	.	.	.	0.09310	N	1	B	0.24483	0.104	B	0.11329	0.006	T	0.36578	-0.9742	7	0.26408	T	0.33	.	4.7019	0.12830	0.5465:0.4535:0.0:0.0	.	143	Q5VZK9-4	.	P	143	.	ENSP00000367206:T143P	T	+	1	0	LRRC16A	25587350	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	-0.550000	0.06183	0.329000	0.21502	ACC	LRRC16A	-	NULL	ENSG00000079691		0.448	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	691	0.00	0	A	NM_017640		25479371	25479371	+1	no_errors	ENST00000377969	ensembl	human	known	69_37n	missense	519	10.98	64	SNP	0.000	C
LRRC2	79442	genome.wustl.edu	37	3	46592987	46592987	+	Missense_Mutation	SNP	A	A	C	rs28687398	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:46592987A>C	ENST00000395905.3	-	2	487	c.95T>G	c.(94-96)gTg>gGg	p.V32G	LRRC2_ENST00000296144.3_Missense_Mutation_p.V32G|LRRC2_ENST00000496388.1_Intron|AC104304.2_ENST00000583198.1_RNA	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	32			V -> A (in dbSNP:rs28687398). {ECO:0000269|PubMed:14702039}.							breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AAGCCTTTCCACCTCCTTCTT	0.463																																						dbGAP											0													140.0	139.0	139.0					3																	46592987		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.95T>G	3.37:g.46592987A>C	ENSP00000379241:p.Val32Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDQ7|Q96LT5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V32G	ENST00000395905.3	37	c.95	CCDS2741.1	3	.	.	.	.	.	.	.	.	.	.	G	4.513	0.095121	0.08681	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.17213	2.29;2.29	4.73	1.81	0.25067	.	0.442822	0.20534	N	0.090455	T	0.07638	0.0192	N	0.08118	0	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.28530	T	0.3	.	7.6676	0.28441	0.0811:0.0:0.3235:0.5954	.	32	Q9BYS8	LRRC2_HUMAN	G	32	ENSP00000379241:V32G;ENSP00000296144:V32G	ENSP00000296144:V32G	V	-	2	0	LRRC2	46567991	0.025000	0.19082	0.143000	0.22291	0.502000	0.33828	0.186000	0.16978	0.019000	0.15079	-1.096000	0.02151	GTG	LRRC2	-	NULL	ENSG00000163827		0.463	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC2	HGNC	protein_coding	OTTHUMT00000257375.2	124	0.00	0	A			46592987	46592987	-1	no_errors	ENST00000296144	ensembl	human	known	69_37n	missense	115	15.44	21	SNP	0.131	C
LRRC28	123355	genome.wustl.edu	37	15	99926272	99926272	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:99926272A>C	ENST00000301981.3	+	10	1309	c.1069A>C	c.(1069-1071)Acc>Ccc	p.T357P	LRRC28_ENST00000422500.2_Missense_Mutation_p.T288P|LRRC28_ENST00000447360.2_Silent_p.P303P|LRRC28_ENST00000331450.5_Missense_Mutation_p.T83P|LRRC28_ENST00000558879.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	357										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGCTGCTCCACCCAGTGTCT	0.488																																						dbGAP											0													322.0	326.0	325.0					15																	99926272		2197	4297	6494	-	-	-	SO:0001583	missense	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1069A>C	15.37:g.99926272A>C	ENSP00000304923:p.Thr357Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T357P	ENST00000301981.3	37	c.1069	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773868	0.49786	.	.	ENSG00000168904	ENST00000301981;ENST00000422500;ENST00000331450	T;T;T	0.52295	1.01;1.49;0.67	5.6	4.44	0.53790	.	0.278290	0.44688	D	0.000424	T	0.43122	0.1233	L	0.47716	1.5	0.80722	D	1	B;B;B	0.27068	0.167;0.093;0.079	B;B;B	0.31869	0.092;0.137;0.065	T	0.31806	-0.9930	10	0.49607	T	0.09	.	11.0399	0.47825	0.9264:0.0:0.0736:0.0	.	288;83;357	B4DHL3;Q8WUS2;Q86X40	.;.;LRC28_HUMAN	P	357;288;83	ENSP00000304923:T357P;ENSP00000398606:T288P;ENSP00000332035:T83P	ENSP00000304923:T357P	T	+	1	0	LRRC28	97743795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.233000	0.51311	0.903000	0.36546	0.533000	0.62120	ACC	LRRC28	-	NULL	ENSG00000168904		0.488	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	386	0.26	1	A	NM_144598		99926272	99926272	+1	no_errors	ENST00000301981	ensembl	human	known	69_37n	missense	418	13.07	63	SNP	1.000	C
LRRC37A3	374819	genome.wustl.edu	37	17	62857046	62857046	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:62857046A>C	ENST00000584306.1	-	11	3748	c.3218T>G	c.(3217-3219)gTg>gGg	p.V1073G	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.V191G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.V111G|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.V1073G|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.V50G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1073						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGCTTGTAACACCTTCATGAA	0.478																																						dbGAP											0													170.0	178.0	176.0					17																	62857046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3218T>G	17.37:g.62857046A>C	ENSP00000464535:p.Val1073Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V1073G	ENST00000584306.1	37	c.3218	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	7.316	0.616028	0.14129	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.47528	0.84;0.84;0.84	2.46	-0.841	0.10752	.	.	.	.	.	T	0.51958	0.1705	M	0.68593	2.085	0.09310	N	0.999999	P;D	0.59357	0.454;0.985	B;P	0.53518	0.186;0.728	T	0.45205	-0.9277	9	0.87932	D	0	.	5.4314	0.16456	0.4305:0.0:0.5695:0.0	.	191;1073	B4DG20;O60309	.;L37A3_HUMAN	G	154;111;50;1073	ENSP00000383674:V111G;ENSP00000335617:V50G;ENSP00000325713:V1073G	ENSP00000325713:V1073G	V	-	2	0	LRRC37A3	60287508	0.013000	0.17824	0.666000	0.29783	0.387000	0.30353	0.052000	0.14163	-0.162000	0.10964	0.248000	0.18094	GTG	LRRC37A3	-	NULL	ENSG00000176809		0.478	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	292	0.00	0	A	NM_199340		62857046	62857046	-1	no_errors	ENST00000319651	ensembl	human	known	69_37n	missense	295	14.24	49	SNP	0.067	C
LRRC37A6P	387646	genome.wustl.edu	37	10	27538295	27538295	+	lincRNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:27538295T>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TGTCTGAAGGTGGAAGTGTCA	0.527																																						dbGAP											0													123.0	104.0	110.0					10																	27538295		692	1591	2283	-	-	-			0																															10.37:g.27538295T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.527	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	271	0.00	0	T			27538295	27538295	-1	no_errors	ENST00000284414	ensembl	human	known	69_37n	rna	153	15.00	27	SNP	0.003	G
LRRC55	219527	genome.wustl.edu	37	11	56949383	56949383	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56949383A>C	ENST00000497933.1	+	1	163	c.16A>C	c.(16-18)Acc>Ccc	p.T6P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CAGAAGCCCCACCTTCACAGA	0.597																																						dbGAP											0													72.0	57.0	62.0					11																	56949383		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.16A>C	11.37:g.56949383A>C	ENSP00000419542:p.Thr6Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T6P	ENST00000497933.1	37	c.16	CCDS31539.1	11	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669148	0.29604	.	.	ENSG00000183908	ENST00000497933	T	0.62105	0.05	5.62	2.0	0.26442	.	3.989760	0.00674	N	0.000641	T	0.57446	0.2054	.	.	.	0.25681	N	0.985792	.	.	.	.	.	.	T	0.48614	-0.9020	7	0.87932	D	0	.	3.5426	0.07816	0.6617:0.0:0.1743:0.164	.	.	.	.	P	6	ENSP00000419542:T6P	ENSP00000419542:T6P	T	+	1	0	LRRC55	56705959	0.001000	0.12720	0.995000	0.50966	0.039000	0.13416	0.109000	0.15417	0.476000	0.27440	-0.333000	0.08304	ACC	LRRC55	-	NULL	ENSG00000183908		0.597	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	51	0.00	0	A	NM_001005210		56949383	56949383	+1	no_errors	ENST00000497933	ensembl	human	known	69_37n	missense	65	18.29	15	SNP	0.997	C
LRRC7	57554	genome.wustl.edu	37	1	70300497	70300497	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:70300497A>C	ENST00000035383.5	+	4	451	c.421A>C	c.(421-423)Acc>Ccc	p.T141P	LRRC7_ENST00000370958.1_Missense_Mutation_p.T179P|LRRC7_ENST00000310961.5_Missense_Mutation_p.T146P|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	141						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTAAACCTGACCCAGCTCTA	0.353																																						dbGAP											0													156.0	146.0	150.0					1																	70300497		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.421A>C	1.37:g.70300497A>C	ENSP00000035383:p.Thr141Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.T141P	ENST00000035383.5	37	c.421	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906961	0.52333	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.55052	1.71;0.54;1.72	5.28	4.15	0.48705	.	0.166724	0.53938	D	0.000056	T	0.68933	0.3055	M	0.93720	3.45	0.80722	D	1	D;P	0.64830	0.994;0.945	D;P	0.66716	0.946;0.63	T	0.74777	-0.3550	10	0.51188	T	0.08	.	10.1474	0.42771	0.9202:0.0:0.0798:0.0	.	141;179	Q96NW7;B1AKT2	LRRC7_HUMAN;.	P	146;179;141;141	ENSP00000309245:T146P;ENSP00000359997:T179P;ENSP00000035383:T141P	ENSP00000035383:T141P	T	+	1	0	LRRC7	70073085	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.887000	0.75616	0.957000	0.37930	0.533000	0.62120	ACC	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.353	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	205	0.49	1	A	NM_020794		70300497	70300497	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	134	14.56	23	SNP	1.000	C
LRRC8A	56262	genome.wustl.edu	37	9	131669696	131669696	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:131669696A>C	ENST00000259324.5	+	3	776	c.253A>C	c.(253-255)Acc>Ccc	p.T85P	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T85P|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T85P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	85					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCCCAACTCCACCATTCTGCC	0.607																																						dbGAP											0													57.0	61.0	60.0					9																	131669696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.253A>C	9.37:g.131669696A>C	ENSP00000259324:p.Thr85Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T85P	ENST00000259324.5	37	c.253	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	A	3.230	-0.157558	0.06544	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.29397	1.57;1.57;1.57	5.41	5.41	0.78517	.	0.147334	0.64402	D	0.000013	T	0.19805	0.0476	N	0.08118	0	0.44825	D	0.997836	B	0.28400	0.21	B	0.34180	0.177	T	0.13072	-1.0523	10	0.26408	T	0.33	.	14.6237	0.68605	1.0:0.0:0.0:0.0	.	85	Q8IWT6	LRC8A_HUMAN	P	85	ENSP00000361682:T85P;ENSP00000361680:T85P;ENSP00000259324:T85P	ENSP00000259324:T85P	T	+	1	0	LRRC8A	130709517	1.000000	0.71417	0.983000	0.44433	0.011000	0.07611	5.941000	0.70195	2.052000	0.61016	0.460000	0.39030	ACC	LRRC8A	-	NULL	ENSG00000136802		0.607	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	39	0.00	0	A	NM_019594		131669696	131669696	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.998	C
LRRC8C	84230	genome.wustl.edu	37	1	90178515	90178515	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:90178515A>C	ENST00000370454.4	+	3	641	c.386A>C	c.(385-387)tAc>tCc	p.Y129S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	129					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TATTTCCCTTACCTTGTCCTC	0.433																																						dbGAP											0													144.0	139.0	141.0					1																	90178515		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.386A>C	1.37:g.90178515A>C	ENSP00000359483:p.Tyr129Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y129S	ENST00000370454.4	37	c.386	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015170	0.75161	.	.	ENSG00000171488	ENST00000370454	T	0.41065	1.01	5.84	5.84	0.93424	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.74881	2.28	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.64935	-0.6290	10	0.87932	D	0	.	16.2047	0.82120	1.0:0.0:0.0:0.0	.	129	Q8TDW0	LRC8C_HUMAN	S	129	ENSP00000359483:Y129S	ENSP00000359483:Y129S	Y	+	2	0	LRRC8C	89951103	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.322000	0.79097	2.220000	0.72140	0.528000	0.53228	TAC	LRRC8C	-	pfam_LRR_protein-8_N	ENSG00000171488		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	265	0.00	0	A	NM_032270		90178515	90178515	+1	no_errors	ENST00000370454	ensembl	human	known	69_37n	missense	133	15.19	24	SNP	1.000	C
LRRIQ1	84125	genome.wustl.edu	37	12	85450905	85450905	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:85450905A>C	ENST00000393217.2	+	8	2395	c.2334A>C	c.(2332-2334)acA>acC	p.T778T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	778										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCAACATGACACCCGCTTTGG	0.328																																						dbGAP											0													109.0	124.0	119.0					12																	85450905		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2334A>C	12.37:g.85450905A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.T778	ENST00000393217.2	37	c.2334	CCDS41816.1	12																																																																																			LRRIQ1	-	NULL	ENSG00000133640		0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	484	0.00	0	A	NM_032165		85450905	85450905	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	silent	409	14.58	70	SNP	0.993	C
LRRK1	79705	genome.wustl.edu	37	15	101605944	101605944	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:101605944A>C	ENST00000388948.3	+	32	5661	c.5302A>C	c.(5302-5304)Acc>Ccc	p.T1768P	LRRK1_ENST00000284395.5_Missense_Mutation_p.T1765P|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACTCCACCACCTACCAGCT	0.637																																						dbGAP											0													64.0	77.0	73.0					15																	101605944		2131	4234	6365	-	-	-	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5302A>C	15.37:g.101605944A>C	ENSP00000373600:p.Thr1768Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.T1768P	ENST00000388948.3	37	c.5302	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394443	0.62066	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72835	-0.69;-0.69	5.7	5.7	0.88788	WD40 repeat-like-containing domain (1);	0.169713	0.51477	D	0.000084	T	0.66848	0.2831	M	0.62723	1.935	0.31578	N	0.655473	B	0.27380	0.177	B	0.26770	0.073	T	0.72606	-0.4242	10	0.66056	D	0.02	.	10.3263	0.43796	0.9268:0.0:0.0732:0.0	.	1768	Q38SD2	LRRK1_HUMAN	P	1768;1765;459;322	ENSP00000373600:T1768P;ENSP00000284395:T1765P	ENSP00000284395:T1765P	T	+	1	0	LRRK1	99423467	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	4.816000	0.62642	2.161000	0.67846	0.533000	0.62120	ACC	LRRK1	-	superfamily_WD40_repeat_dom	ENSG00000154237		0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	59	0.00	0	A	NM_024652		101605944	101605944	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.994	C
LRTM1	57408	genome.wustl.edu	37	3	54952523	54952523	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:54952523A>C	ENST00000273286.5	-	3	1163	c.1001T>G	c.(1000-1002)gTg>gGg	p.V334G	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.V258G|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	334						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTTTCTTCCACCTTCCCAGG	0.512																																						dbGAP											0													181.0	174.0	176.0					3																	54952523		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.1001T>G	3.37:g.54952523A>C	ENSP00000273286:p.Val334Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V334G	ENST00000273286.5	37	c.1001	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790995	0.31685	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.50813	0.73;1.06	5.48	-2.65	0.06095	.	1.353490	0.04246	N	0.337724	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.07731	-1.0757	10	0.26408	T	0.33	.	2.3265	0.04224	0.3384:0.0896:0.4199:0.1521	.	334	Q9HBL6	LRTM1_HUMAN	G	334;258	ENSP00000273286:V334G;ENSP00000419772:V258G	ENSP00000273286:V334G	V	-	2	0	LRTM1	54927563	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.045000	0.14013	-0.431000	0.07307	-0.337000	0.08149	GTG	LRTM1	-	NULL	ENSG00000144771		0.512	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	273	0.72	2	A	NM_020678		54952523	54952523	-1	no_errors	ENST00000273286	ensembl	human	known	69_37n	missense	166	13.54	26	SNP	0.000	C
LTA	4049	genome.wustl.edu	37	6	31541421	31541421	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31541421A>C	ENST00000454783.1	+	4	827	c.569A>C	c.(568-570)cAc>cCc	p.H190P	LTA_ENST00000418386.2_Missense_Mutation_p.H190P|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	190					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GGCATCCCCCACCTAGTCCTC	0.532																																						dbGAP											0													163.0	161.0	162.0					6																	31541421		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.569A>C	6.37:g.31541421A>C	ENSP00000403495:p.His190Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4C3|Q9UKS8	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c	p.H190P	ENST00000454783.1	37	c.569	CCDS4701.1	6	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194051	0.38707	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	T;T	0.63255	-0.03;-0.03	5.69	5.69	0.88448	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.258713	0.39020	N	0.001493	T	0.67581	0.2908	L	0.60455	1.87	0.44966	D	0.997983	D	0.64830	0.994	D	0.66979	0.948	T	0.72707	-0.4212	10	0.72032	D	0.01	-19.1919	12.3338	0.55054	1.0:0.0:0.0:0.0	.	190	P01374	TNFB_HUMAN	P	190	ENSP00000403495:H190P;ENSP00000413450:H190P	ENSP00000413450:H190P	H	+	2	0	LTA	31649400	0.996000	0.38824	0.461000	0.27105	0.241000	0.25554	3.465000	0.53064	2.162000	0.67917	0.533000	0.62120	CAC	LTA	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta	ENSG00000226979		0.532	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA	HGNC	protein_coding	OTTHUMT00000259097.1	147	0.68	1	A			31541421	31541421	+1	no_errors	ENST00000418386	ensembl	human	known	69_37n	missense	99	24.81	33	SNP	0.934	C
LTBP3	4054	genome.wustl.edu	37	11	65310655	65310655	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:65310655A>C	ENST00000301873.5	-	18	2785	c.2517T>G	c.(2515-2517)ggT>ggG	p.G839G	LTBP3_ENST00000536982.1_Silent_p.G465G|LTBP3_ENST00000322147.4_Silent_p.G839G|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.G269G|LTBP3_ENST00000529189.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	839	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGATGCAGTCACCCCCAATGC	0.587																																						dbGAP											0													124.0	109.0	114.0					11																	65310655		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2517T>G	11.37:g.65310655A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15107|Q96HB9|Q9H7K2|Q9UFN4	Nonstop_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.*490G	ENST00000301873.5	37	c.1468	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	A	9.474	1.096441	0.20552	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.1	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7719	0.05337	0.5911:0.0:0.2186:0.1902	.	.	.	.	G	490	.	.	X	-	1	0	LTBP3	65067231	0.132000	0.22450	1.000000	0.80357	0.981000	0.71138	-0.509000	0.06336	0.064000	0.16427	-0.475000	0.04921	TGA	LTBP3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000168056		0.587	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	187	0.00	0	A	NM_021070		65310655	65310655	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526927	ensembl	human	novel	69_37n	nonstop	105	19.08	25	SNP	0.997	C
LUZP1	7798	genome.wustl.edu	37	1	23418054	23418054	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23418054A>C	ENST00000302291.4	-	4	3502	c.2701T>G	c.(2701-2703)Tgg>Ggg	p.W901G	LUZP1_ENST00000314174.5_Missense_Mutation_p.W901G|LUZP1_ENST00000418342.1_Missense_Mutation_p.W901G|LUZP1_ENST00000374623.3_Missense_Mutation_p.W901G			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	901					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGCTTTTCCACCTGATTGTC	0.512																																						dbGAP											0													92.0	85.0	87.0					1																	23418054		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2701T>G	1.37:g.23418054A>C	ENSP00000303758:p.Trp901Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.W901G	ENST00000302291.4	37	c.2701	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473661	0.63737	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.20332	2.28;2.28;2.28;2.08	5.28	4.15	0.48705	.	0.318336	0.23213	N	0.050656	T	0.30166	0.0756	L	0.60455	1.87	0.38878	D	0.956836	D;D	0.63046	0.992;0.992	P;P	0.54270	0.747;0.747	T	0.06320	-1.0833	10	0.29301	T	0.29	.	8.7791	0.34781	0.9142:0.0:0.0858:0.0	.	901;901	Q86V48-2;Q86V48	.;LUZP1_HUMAN	G	901	ENSP00000393460:W901G;ENSP00000363752:W901G;ENSP00000303758:W901G;ENSP00000313705:W901G	ENSP00000303758:W901G	W	-	1	0	LUZP1	23290641	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.215000	0.65241	0.870000	0.35726	0.397000	0.26171	TGG	LUZP1	-	NULL	ENSG00000169641		0.512	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	210	0.00	0	A	NM_033631		23418054	23418054	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	missense	206	11.06	26	SNP	1.000	C
LUZP1	7798	genome.wustl.edu	37	1	23418278	23418278	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23418278A>C	ENST00000302291.4	-	4	3278	c.2477T>G	c.(2476-2478)gTg>gGg	p.V826G	LUZP1_ENST00000314174.5_Missense_Mutation_p.V826G|LUZP1_ENST00000418342.1_Missense_Mutation_p.V826G|LUZP1_ENST00000374623.3_Missense_Mutation_p.V826G			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	826					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGCCAGCCCCACCTGGATATT	0.537																																						dbGAP											0													82.0	77.0	79.0					1																	23418278		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2477T>G	1.37:g.23418278A>C	ENSP00000303758:p.Val826Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.V826G	ENST00000302291.4	37	c.2477	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848019	0.71603	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.21543	2.21;2.21;2.21;2.0	5.28	5.28	0.74379	.	0.000000	0.43747	D	0.000528	T	0.42268	0.1195	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.33523	-0.9865	10	0.87932	D	0	.	14.4265	0.67220	1.0:0.0:0.0:0.0	.	826;826	Q86V48-2;Q86V48	.;LUZP1_HUMAN	G	826	ENSP00000393460:V826G;ENSP00000363752:V826G;ENSP00000303758:V826G;ENSP00000313705:V826G	ENSP00000303758:V826G	V	-	2	0	LUZP1	23290865	1.000000	0.71417	0.965000	0.40720	0.714000	0.41099	6.414000	0.73318	2.017000	0.59298	0.397000	0.26171	GTG	LUZP1	-	NULL	ENSG00000169641		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	165	0.00	0	A	NM_033631		23418278	23418278	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	missense	126	16.00	24	SNP	0.997	C
LUZP1	7798	genome.wustl.edu	37	1	23419215	23419215	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23419215T>G	ENST00000302291.4	-	4	2341	c.1540A>C	c.(1540-1542)Acc>Ccc	p.T514P	LUZP1_ENST00000314174.5_Missense_Mutation_p.T514P|LUZP1_ENST00000418342.1_Missense_Mutation_p.T514P|LUZP1_ENST00000374623.3_Missense_Mutation_p.T514P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	514					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCATGGGTGGTGTCACTAAAC	0.547																																						dbGAP											0													240.0	231.0	234.0					1																	23419215		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1540A>C	1.37:g.23419215T>G	ENSP00000303758:p.Thr514Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.T514P	ENST00000302291.4	37	c.1540	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	T	7.010	0.556639	0.13436	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15256	2.66;2.66;2.66;2.44	5.88	-5.7	0.02421	.	1.222020	0.05932	N	0.635363	T	0.02494	0.0076	N	0.00729	-1.24	0.09310	N	1	P;P	0.34757	0.467;0.467	B;B	0.31614	0.133;0.133	T	0.29882	-0.9997	10	0.02654	T	1	.	0.1304	0.00073	0.354:0.1974:0.1938:0.2548	.	514;514	Q86V48-2;Q86V48	.;LUZP1_HUMAN	P	514	ENSP00000393460:T514P;ENSP00000363752:T514P;ENSP00000303758:T514P;ENSP00000313705:T514P	ENSP00000303758:T514P	T	-	1	0	LUZP1	23291802	0.000000	0.05858	0.000000	0.03702	0.547000	0.35210	-0.816000	0.04477	-0.493000	0.06678	0.529000	0.55759	ACC	LUZP1	-	NULL	ENSG00000169641		0.547	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	315	0.00	0	T	NM_033631		23419215	23419215	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	missense	265	12.13	37	SNP	0.000	G
LUZP1	7798	genome.wustl.edu	37	1	23419978	23419978	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23419978A>C	ENST00000302291.4	-	4	1578	c.777T>G	c.(775-777)ggT>ggG	p.G259G	LUZP1_ENST00000314174.5_Silent_p.G259G|LUZP1_ENST00000418342.1_Silent_p.G259G|LUZP1_ENST00000374623.3_Silent_p.G259G			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	259					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGTCCAGACCACCCTTCCTTC	0.413																																						dbGAP											0													156.0	145.0	149.0					1																	23419978		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.777T>G	1.37:g.23419978A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	NULL	p.G259	ENST00000302291.4	37	c.777	CCDS30628.1	1																																																																																			LUZP1	-	NULL	ENSG00000169641		0.413	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	196	0.00	0	A	NM_033631		23419978	23419978	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	silent	135	21.97	38	SNP	0.006	C
LY6G6F	259215	genome.wustl.edu	37	6	31678347	31678347	+	Silent	SNP	A	A	C	rs199786215		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31678347A>C	ENST00000375832.4	+	6	895	c.873A>C	c.(871-873)ccA>ccC	p.P291P	LY6G6F_ENST00000556581.1_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCCACAGCCCACCTGCCCACA	0.547																																						dbGAP											0													140.0	128.0	132.0					6																	31678347		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.873A>C	6.37:g.31678347A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.P291	ENST00000375832.4	37	c.873	CCDS34403.1	6																																																																																			LY6G6F	-	NULL	ENSG00000204424		0.547	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	HGNC	protein_coding	OTTHUMT00000076532.2	140	0.00	0	A	NM_001003693		31678347	31678347	+1	no_errors	ENST00000375832	ensembl	human	known	69_37n	silent	101	13.68	16	SNP	1.000	C
MAB21L1	4081	genome.wustl.edu	37	13	36049385	36049385	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:36049385A>C	ENST00000379919.4	-	1	1447	c.891T>G	c.(889-891)ggT>ggG	p.G297G	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	297					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCAGCCGATCACCCAGGCAAG	0.532																																						dbGAP											0													107.0	92.0	97.0					13																	36049385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.891T>G	13.37:g.36049385A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.G297	ENST00000379919.4	37	c.891	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom	ENSG00000180660		0.532	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	126	0.00	0	A	NM_005584		36049385	36049385	-1	no_errors	ENST00000379919	ensembl	human	known	69_37n	silent	84	15.00	15	SNP	0.136	C
MACC1	346389	genome.wustl.edu	37	7	20198913	20198913	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:20198913T>G	ENST00000400331.5	-	5	1379	c.1071A>C	c.(1069-1071)tcA>tcC	p.S357S	MACC1_ENST00000589011.1_Silent_p.S357S|MACC1_ENST00000332878.4_Silent_p.S357S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	357					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGGCAGCTGGTGACGGAAGAG	0.403																																						dbGAP											0													60.0	55.0	57.0					7																	20198913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1071A>C	7.37:g.20198913T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	pfam_SH3_2,superfamily_DEATH-like	p.S357	ENST00000400331.5	37	c.1071	CCDS5369.1	7																																																																																			MACC1	-	NULL	ENSG00000183742		0.403	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	123	0.00	0	T	NM_182762		20198913	20198913	-1	no_errors	ENST00000332878	ensembl	human	known	69_37n	silent	68	22.47	20	SNP	0.295	G
MACF1	23499	genome.wustl.edu	37	1	39799604	39799604	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:39799604T>G	ENST00000372915.3	+	36	7446	c.7359T>G	c.(7357-7359)ggT>ggG	p.G2453G	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Silent_p.G2448G|MACF1_ENST00000289893.4_Silent_p.G888G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.G2485G|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2453					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTCCAAAGGTAGAGATGCTG	0.403																																						dbGAP											0													63.0	69.0	67.0					1																	39799604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7359T>G	1.37:g.39799604T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,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.G2485	ENST00000372915.3	37	c.7455		1																																																																																			MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	175	0.00	0	T	NM_033044		39799604	39799604	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	silent	100	16.53	20	SNP	0.990	G
MAGEA10	4109	genome.wustl.edu	37	X	151303738	151303738	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151303738T>G	ENST00000370323.4	-	4	671	c.355A>C	c.(355-357)Acc>Ccc	p.T119P	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.T119P	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	119						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGTAGGGTGCTTGGACTC	0.498																																						dbGAP											0													155.0	151.0	152.0					X																	151303738		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.355A>C	X.37:g.151303738T>G	ENSP00000359347:p.Thr119Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T119P	ENST00000370323.4	37	c.355	CCDS14705.1	X	.	.	.	.	.	.	.	.	.	.	T	2.317	-0.356509	0.05138	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	2.0	-4.01	0.04045	Melanoma associated antigen, MAGE, N-terminal (1);	1.271160	0.05861	N	0.622961	T	0.05502	0.0145	L	0.52573	1.65	0.09310	N	1	B	0.20780	0.048	B	0.32289	0.143	T	0.44159	-0.9346	10	0.49607	T	0.09	.	0.4729	0.00535	0.3434:0.1491:0.2999:0.2076	.	119	P43363	MAGAA_HUMAN	P	119	ENSP00000359347:T119P;ENSP00000244096:T119P;ENSP00000406161:T119P;ENSP00000391977:T119P	ENSP00000244096:T119P	T	-	1	0	MAGEA10	151054394	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.284000	0.08422	-1.978000	0.00993	0.242000	0.17961	ACC	MAGEA10	-	pfam_Melanoma_ass_antigen_N	ENSG00000124260		0.498	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3	159	0.62	1	T	NM_021048		151303738	151303738	-1	no_errors	ENST00000244096	ensembl	human	known	69_37n	missense	85	18.10	19	SNP	0.000	G
MAGEA12	4111	genome.wustl.edu	37	X	151899895	151899895	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151899895T>G	ENST00000357916.4	-	2	1061	c.906A>C	c.(904-906)ccA>ccC	p.P302P	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.P302P|MAGEA12_ENST00000393900.3_Silent_p.P302P	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCAGGGGTGGGTAGGAAA	0.562																																						dbGAP											0													160.0	153.0	155.0					X																	151899895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.906A>C	X.37:g.151899895T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P302	ENST00000357916.4	37	c.906	CCDS14710.1	X																																																																																			MAGEA12	-	pfscan_MAGE	ENSG00000213401		0.562	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	310	0.95	3	T	NM_005367		151899895	151899895	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	silent	270	11.90	37	SNP	0.005	G
MAGEA12	4111	genome.wustl.edu	37	X	151899938	151899938	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151899938T>G	ENST00000357916.4	-	2	1018	c.863A>C	c.(862-864)cAc>cCc	p.H288P	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.H288P|MAGEA12_ENST00000393900.3_Missense_Mutation_p.H288P	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCAAATGGTGCAGGACTTT	0.547																																						dbGAP											0													189.0	176.0	181.0					X																	151899938		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.863A>C	X.37:g.151899938T>G	ENSP00000350592:p.His288Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.H288P	ENST00000357916.4	37	c.863	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	T	5.124	0.208459	0.09757	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.01599	4.74;4.74;4.74	0.809	0.809	0.18725	.	1.243860	0.05444	N	0.548174	T	0.02418	0.0074	L	0.40543	1.245	0.09310	N	1	B	0.20671	0.047	B	0.24701	0.055	T	0.46735	-0.9170	9	0.87932	D	0	.	.	.	.	.	288	P43365	MAGAC_HUMAN	P	288	ENSP00000350592:H288P;ENSP00000377447:H288P;ENSP00000377478:H288P	ENSP00000350592:H288P	H	-	2	0	MAGEA12	151650594	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.357000	0.20199	0.557000	0.29117	0.151000	0.16131	CAC	MAGEA12	-	pfscan_MAGE	ENSG00000213401		0.547	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	348	0.29	1	T	NM_005367		151899938	151899938	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	missense	295	10.30	34	SNP	0.001	G
MAGEA12	4111	genome.wustl.edu	37	X	151900304	151900304	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151900304A>C	ENST00000357916.4	-	2	652	c.497T>G	c.(496-498)gTg>gGg	p.V166G	CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.V166G|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.V166G	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	166	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CACTTCCACCACCTCGATGCC	0.547																																						dbGAP											0													157.0	148.0	151.0					X																	151900304		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.497T>G	X.37:g.151900304A>C	ENSP00000350592:p.Val166Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V166G	ENST00000357916.4	37	c.497	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923925	0.34002	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05717	3.4;3.4;3.4	0.809	0.809	0.18725	.	0.368755	0.27807	N	0.017765	T	0.26810	0.0656	M	0.92604	3.325	0.25440	N	0.988101	D	0.69078	0.997	D	0.72075	0.976	T	0.03394	-1.1041	9	0.87932	D	0	.	.	.	.	.	166	P43365	MAGAC_HUMAN	G	166	ENSP00000350592:V166G;ENSP00000377447:V166G;ENSP00000377478:V166G	ENSP00000350592:V166G	V	-	2	0	MAGEA12	151650960	0.003000	0.15002	0.326000	0.25389	0.132000	0.20833	1.586000	0.36611	0.557000	0.29117	0.151000	0.16131	GTG	MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.547	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	294	0.00	0	A	NM_005367		151900304	151900304	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	missense	253	13.31	39	SNP	0.324	C
MAGEB1	4112	genome.wustl.edu	37	X	30269359	30269359	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:30269359T>G	ENST00000378981.3	+	4	1070	c.749T>G	c.(748-750)gTg>gGg	p.V250G	MAGEB1_ENST00000397548.2_Missense_Mutation_p.V250G|MAGEB1_ENST00000397550.1_Missense_Mutation_p.V250G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	250	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CAAGATCTGGTGCAGGAAAAA	0.488																																						dbGAP											0													82.0	73.0	76.0					X																	30269359		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.749T>G	X.37:g.30269359T>G	ENSP00000368264:p.Val250Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V250G	ENST00000378981.3	37	c.749	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550687	0.27739	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.09073	3.02;3.02;3.02	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	H	0.98048	4.135	0.23862	N	0.99663	D	0.89917	1.0	D	0.97110	1.0	T	0.49579	-0.8925	10	0.87932	D	0	.	8.3454	0.32270	0.0:0.0:0.0:1.0	.	250	P43366	MAGB1_HUMAN	G	250	ENSP00000368264:V250G;ENSP00000380683:V250G;ENSP00000380681:V250G	ENSP00000368264:V250G	V	+	2	0	MAGEB1	30179280	0.932000	0.31603	0.133000	0.22050	0.080000	0.17528	3.262000	0.51538	1.788000	0.52465	0.486000	0.48141	GTG	MAGEB1	-	pfam_MAGE,pfscan_MAGE	ENSG00000214107		0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	140	0.00	0	T	NM_002363		30269359	30269359	+1	no_errors	ENST00000378981	ensembl	human	known	69_37n	missense	131	10.81	16	SNP	0.118	G
MAGEB1	4112	genome.wustl.edu	37	X	30269644	30269644	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:30269644A>C	ENST00000378981.3	+	4	1355	c.1034A>C	c.(1033-1035)cAc>cCc	p.H345P	MAGEB1_ENST00000397548.2_Missense_Mutation_p.H345P|MAGEB1_ENST00000397550.1_Missense_Mutation_p.H345P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	345										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGGTCCTCCCACCCCATGTGA	0.512																																						dbGAP											0													52.0	49.0	50.0					X																	30269644		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.1034A>C	X.37:g.30269644A>C	ENSP00000368264:p.His345Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.H345P	ENST00000378981.3	37	c.1034	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	A	2.194	-0.384550	0.04966	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01613	4.73;4.73;4.73	3.86	-7.71	0.01254	.	.	.	.	.	T	0.01523	0.0049	L	0.35793	1.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34576	-0.9823	9	0.30078	T	0.28	.	8.6311	0.33919	0.3334:0.2225:0.4441:0.0	.	345	P43366	MAGB1_HUMAN	P	345	ENSP00000368264:H345P;ENSP00000380683:H345P;ENSP00000380681:H345P	ENSP00000368264:H345P	H	+	2	0	MAGEB1	30179565	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.048000	0.00629	-3.923000	0.00091	0.417000	0.27973	CAC	MAGEB1	-	NULL	ENSG00000214107		0.512	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	128	0.00	0	A	NM_002363		30269644	30269644	+1	no_errors	ENST00000378981	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	0.000	C
MAGEE2	139599	genome.wustl.edu	37	X	75004014	75004014	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:75004014A>C	ENST00000373359.2	-	1	1065	c.873T>G	c.(871-873)ggT>ggG	p.G291G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	291			G -> C (in dbSNP:rs12688600).							autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGTTTTGTCACCTTCCAGGG	0.458																																						dbGAP											0													67.0	63.0	64.0					X																	75004014		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.873T>G	X.37:g.75004014A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSI5	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.G291	ENST00000373359.2	37	c.873	CCDS14431.1	X																																																																																			MAGEE2	-	NULL	ENSG00000186675		0.458	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	183	0.00	0	A	NM_138703		75004014	75004014	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	silent	174	11.17	22	SNP	0.053	C
MAGEC1	9947	genome.wustl.edu	37	X	140995925	140995925	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:140995925T>G	ENST00000285879.4	+	4	3021	c.2735T>G	c.(2734-2736)gTg>gGg	p.V912G	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	912	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAAAGGTGGACGAGTTG	0.488										HNSCC(15;0.026)																												dbGAP											0													173.0	171.0	172.0					X																	140995925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2735T>G	X.37:g.140995925T>G	ENSP00000285879:p.Val912Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.V912G	ENST00000285879.4	37	c.2735	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	t	7.744	0.701830	0.15172	.	.	ENSG00000155495	ENST00000285879	T	0.02863	4.13	0.837	-1.24	0.09435	.	.	.	.	.	T	0.09512	0.0234	M	0.86864	2.845	0.09310	N	1	P	0.48350	0.909	P	0.52909	0.713	T	0.07328	-1.0778	8	0.87932	D	0	.	.	.	.	.	912	O60732	MAGC1_HUMAN	G	912	ENSP00000285879:V912G	ENSP00000285879:V912G	V	+	2	0	MAGEC1	140823591	0.001000	0.12720	0.002000	0.10522	0.139000	0.21198	0.160000	0.16462	-0.366000	0.08064	0.231000	0.17811	GTG	MAGEC1	-	pfscan_MAGE	ENSG00000155495		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	350	0.00	0	T	NM_005462		140995925	140995925	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	missense	216	13.44	34	SNP	0.002	G
MAGEC2	51438	genome.wustl.edu	37	X	141291001	141291001	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:141291001A>C	ENST00000247452.3	-	3	1120	c.773T>G	c.(772-774)gTa>gGa	p.V258G		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	258	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCATATACCCCTACTGC	0.532										HNSCC(46;0.14)																												dbGAP											0													124.0	119.0	121.0					X																	141291001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.773T>G	X.37:g.141291001A>C	ENSP00000354660:p.Val258Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V258G	ENST00000247452.3	37	c.773	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	14.64	2.596799	0.46318	.	.	ENSG00000046774	ENST00000247452	T	0.06449	3.3	0.988	0.988	0.19796	.	0.287100	0.27577	U	0.018746	T	0.25791	0.0628	M	0.93375	3.41	0.09310	N	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.04855	-1.0922	10	0.87932	D	0	.	3.916	0.09224	1.0:0.0:0.0:0.0	.	258	Q9UBF1	MAGC2_HUMAN	G	258	ENSP00000354660:V258G	ENSP00000354660:V258G	V	-	2	0	MAGEC2	141118667	0.001000	0.12720	0.018000	0.16275	0.701000	0.40568	0.951000	0.29135	0.635000	0.30488	0.235000	0.17854	GTA	MAGEC2	-	pfam_MAGE,pfscan_MAGE	ENSG00000046774		0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	538	0.19	1	A	NM_016249		141291001	141291001	-1	no_errors	ENST00000247452	ensembl	human	known	69_37n	missense	483	12.32	68	SNP	0.018	C
MAGEA4	4103	genome.wustl.edu	37	X	151092213	151092213	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151092213T>G	ENST00000360243.2	+	3	344	c.77T>G	c.(76-78)gTg>gGg	p.V26G	MAGEA4_ENST00000393921.1_Missense_Mutation_p.V26G|MAGEA4_ENST00000370337.4_Missense_Mutation_p.V26G|MAGEA4_ENST00000370335.1_Missense_Mutation_p.V26G|MAGEA4_ENST00000276344.2_Missense_Mutation_p.V26G|MAGEA4_ENST00000393920.1_Missense_Mutation_p.V26G|MAGEA4_ENST00000370340.3_Missense_Mutation_p.V26G	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	26										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGCCTGGTGGGTGCACAG	0.612																																						dbGAP											0													45.0	44.0	44.0					X																	151092213		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.77T>G	X.37:g.151092213T>G	ENSP00000353379:p.Val26Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V26G	ENST00000360243.2	37	c.77	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	T	8.468	0.856933	0.17106	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64	2.4	-4.79	0.03200	Melanoma associated antigen, MAGE, N-terminal (1);	3.758910	0.00559	N	0.000267	T	0.12860	0.0312	M	0.69185	2.1	0.09310	N	1	D	0.61697	0.99	P	0.60886	0.88	T	0.37174	-0.9717	10	0.25751	T	0.34	.	4.7904	0.13245	0.0:0.3844:0.3481:0.2675	.	26	P43358	MAGA4_HUMAN	G	26	ENSP00000387777:V26G;ENSP00000276344:V26G;ENSP00000391904:V26G;ENSP00000377498:V26G;ENSP00000394149:V26G;ENSP00000359362:V26G;ENSP00000402624:V26G;ENSP00000377497:V26G;ENSP00000359365:V26G;ENSP00000394073:V26G;ENSP00000400900:V26G;ENSP00000402186:V26G;ENSP00000359360:V26G;ENSP00000353379:V26G;ENSP00000390096:V26G	ENSP00000276344:V26G	V	+	2	0	MAGEA4	150842869	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.223000	0.01214	-1.753000	0.01323	0.356000	0.21956	GTG	MAGEA4	-	pfam_Melanoma_ass_antigen_N	ENSG00000147381		0.612	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	32	0.00	0	T	NM_002362		151092213	151092213	+1	no_errors	ENST00000276344	ensembl	human	known	69_37n	missense	48	16.95	10	SNP	0.000	G
MAGEA3	4102	genome.wustl.edu	37	X	151935261	151935261	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:151935261T>G	ENST00000393902.3	-	3	1473	c.906A>C	c.(904-906)ccA>ccC	p.P302P	MAGEA3_ENST00000370278.3_Silent_p.P302P			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCAGGGGTGGGTAGGAAA	0.567																																						dbGAP											0													144.0	139.0	141.0					X																	151935261		2202	4294	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.906A>C	X.37:g.151935261T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHI6	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P302	ENST00000393902.3	37	c.906	CCDS14715.1	X																																																																																			MAGEA3	-	pfscan_MAGE	ENSG00000221867		0.567	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA3	HGNC	protein_coding	OTTHUMT00000058744.1	215	0.46	1	T	NM_005362		151935261	151935261	-1	no_errors	ENST00000370278	ensembl	human	known	69_37n	silent	170	18.18	38	SNP	0.000	G
MAGI1	9223	genome.wustl.edu	37	3	65349154	65349154	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:65349154A>C	ENST00000497477.2	-	20	3279	c.3280T>G	c.(3280-3282)Tgt>Ggt	p.C1094G	MAGI1_ENST00000483466.1_Missense_Mutation_p.C1190G|MAGI1_ENST00000402939.2_Missense_Mutation_p.C1161G|MAGI1_ENST00000330909.8_Missense_Mutation_p.C1189G			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1190					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCTTTCCACACCTCTCCGCA	0.488																																						dbGAP											0													265.0	278.0	273.0					3																	65349154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3280T>G	3.37:g.65349154A>C	ENSP00000424369:p.Cys1094Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.C1161G	ENST00000497477.2	37	c.3481		3	.	.	.	.	.	.	.	.	.	.	A	9.988	1.230061	0.22542	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.63	5.63	0.86233	.	0.095002	0.64402	D	0.000001	T	0.26484	0.0647	N	0.21282	0.65	0.54753	D	0.999984	P;P;B;B	0.40398	0.609;0.716;0.248;0.165	P;B;B;B	0.46049	0.502;0.311;0.146;0.089	T	0.02698	-1.1122	10	0.46703	T	0.11	-19.0176	16.1297	0.81418	1.0:0.0:0.0:0.0	.	1094;1190;1161;1189	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	G	1161;1189;1085;1065;1190;1094;948	ENSP00000385450:C1161G;ENSP00000331157:C1189G;ENSP00000418177:C1065G;ENSP00000420323:C1190G;ENSP00000424369:C1094G;ENSP00000420796:C948G	ENSP00000331157:C1189G	C	-	1	0	MAGI1	65324194	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.939000	0.75911	2.270000	0.75569	0.460000	0.39030	TGT	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.488	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	612	0.00	0	A	NM_004742		65349154	65349154	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	449	14.72	78	SNP	1.000	C
MAGI1	9223	genome.wustl.edu	37	3	65415333	65415333	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:65415333A>C	ENST00000497477.2	-	12	2028	c.2029T>G	c.(2029-2031)Tgc>Ggc	p.C677G	MAGI1_ENST00000483466.1_Missense_Mutation_p.C677G|MAGI1_ENST00000470990.1_5'Flank|MAGI1_ENST00000402939.2_Missense_Mutation_p.C677G|MAGI1_ENST00000330909.8_Missense_Mutation_p.C677G			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	677	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGGCCTCGGCACCTTGGGCTG	0.493																																						dbGAP											0													118.0	105.0	109.0					3																	65415333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2029T>G	3.37:g.65415333A>C	ENSP00000424369:p.Cys677Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.C677G	ENST00000497477.2	37	c.2029		3	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409302	0.83340	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.92	5.92	0.95590	.	0.083039	0.85682	D	0.000000	T	0.58090	0.2098	L	0.60012	1.86	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.033;1.0;0.984;0.999	D;B;D;D;D	0.87578	0.998;0.04;0.998;0.94;0.995	T	0.52909	-0.8512	10	0.09084	T	0.74	-8.4136	16.3492	0.83195	1.0:0.0:0.0:0.0	.	677;677;677;677;677	Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.;.	G	677;677;573;552;677;677;463	ENSP00000385450:C677G;ENSP00000331157:C677G;ENSP00000418177:C552G;ENSP00000420323:C677G;ENSP00000424369:C677G;ENSP00000420796:C463G	ENSP00000331157:C677G	C	-	1	0	MAGI1	65390373	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.339000	0.96797	2.266000	0.75297	0.528000	0.53228	TGC	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.493	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	170	0.58	1	A	NM_004742		65415333	65415333	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	131	20.48	34	SNP	1.000	C
MAGI3	260425	genome.wustl.edu	37	1	114196630	114196630	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:114196630A>C	ENST00000307546.9	+	15	2694	c.2619A>C	c.(2617-2619)ccA>ccC	p.P873P	MAGI3_ENST00000369611.4_Silent_p.P873P|MAGI3_ENST00000369615.1_Silent_p.P873P|MAGI3_ENST00000369617.4_Silent_p.P898P	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	898					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAACAAACCACCTCCAGGAG	0.463																																						dbGAP											0													139.0	147.0	144.0					1																	114196630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2619A>C	1.37:g.114196630A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.P873	ENST00000307546.9	37	c.2619	CCDS44196.1	1																																																																																			MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000081026		0.463	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	280	0.70	2	A	NM_152900		114196630	114196630	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	silent	133	25.70	46	SNP	0.321	C
MALAT1	378938	genome.wustl.edu	37	11	65268712	65268712	+	lincRNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:65268712T>G	ENST00000534336.1	+	0	3480				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTGTGGGGGTGGGGGCAAAA	0.393																																						dbGAP											0																																										-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268712T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.393	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	38	0.00	0	T	NR_002819		65268712	65268712	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	17	54.05	20	SNP	0.000	G
MAML3	55534	genome.wustl.edu	37	4	140810736	140810736	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:140810736T>G	ENST00000509479.2	-	2	2710	c.1854A>C	c.(1852-1854)ccA>ccC	p.P618P	MAML3_ENST00000327122.5_Silent_p.P462P|MAML3_ENST00000398940.1_Silent_p.P146P	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGGCCACTGGTGGTGTCATCC	0.517																																						dbGAP											0													181.0	192.0	189.0					4																	140810736		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1854A>C	4.37:g.140810736T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.P618	ENST00000509479.2	37	c.1854	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.517	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	501	0.59	3	T			140810736	140810736	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	silent	363	11.59	48	SNP	0.004	G
MAN2A1	4124	genome.wustl.edu	37	5	109091066	109091066	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:109091066T>G	ENST00000261483.4	+	5	1796	c.744T>G	c.(742-744)ggT>ggG	p.G248G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	248					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGTGACAGGTGGCTGGGTTA	0.318																																						dbGAP											0													125.0	124.0	124.0					5																	109091066		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.744T>G	5.37:g.109091066T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16767	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.G248	ENST00000261483.4	37	c.744	CCDS34209.1	5																																																																																			MAN2A1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000112893		0.318	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	186	0.53	1	T			109091066	109091066	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	silent	132	13.07	20	SNP	1.000	G
MAN2B1	4125	genome.wustl.edu	37	19	12757534	12757534	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:12757534T>G	ENST00000456935.2	-	24	2976	c.2936A>C	c.(2935-2937)cAc>cCc	p.H979P	MAN2B1_ENST00000221363.4_Missense_Mutation_p.H978P|CTD-2192J16.22_ENST00000597692.1_Silent_p.P165P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	979					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGGAGTTTGGTGGGGTGTGGG	0.597																																						dbGAP											0													172.0	134.0	147.0					19																	12757534		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2936A>C	19.37:g.12757534T>G	ENSP00000395473:p.His979Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.H979P	ENST00000456935.2	37	c.2936	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	T	8.430	0.848445	0.17034	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78595	-1.19;-1.19	5.86	-2.26	0.06867	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	2.374230	0.01436	N	0.014919	T	0.61850	0.2380	L	0.31065	0.9	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.34976	-0.9807	10	0.29301	T	0.29	-2.8418	0.4298	0.00469	0.355:0.2156:0.1218:0.3075	.	978;979	G5E928;O00754	.;MA2B1_HUMAN	P	979;918;978	ENSP00000395473:H979P;ENSP00000221363:H978P	ENSP00000221363:H978P	H	-	2	0	MAN2B1	12618534	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.433000	0.06948	-0.120000	0.11809	-0.290000	0.09829	CAC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000104774		0.597	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	44	0.00	0	T			12757534	12757534	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.000	G
MAP1A	4130	genome.wustl.edu	37	15	43821329	43821329	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:43821329A>C	ENST00000300231.5	+	4	8108	c.7658A>C	c.(7657-7659)cAc>cCc	p.H2553P	MAP1A_ENST00000399453.1_Missense_Mutation_p.H2553P|MAP1A_ENST00000382031.1_Missense_Mutation_p.H2791P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2553					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGTACTCACCACCCCAGGCCT	0.642																																						dbGAP											0													57.0	61.0	60.0					15																	43821329		1991	4148	6139	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7658A>C	15.37:g.43821329A>C	ENSP00000300231:p.His2553Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.H2553P	ENST00000300231.5	37	c.7658	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406188	0.25378	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01495	4.83;4.84;4.83	5.14	5.14	0.70334	.	.	.	.	.	T	0.02418	0.0074	N	0.22421	0.69	0.35043	D	0.75989	P	0.36412	0.552	B	0.40677	0.337	T	0.60551	-0.7241	9	0.42905	T	0.14	-10.8088	15.1101	0.72349	1.0:0.0:0.0:0.0	.	2553	P78559	MAP1A_HUMAN	P	2791;2553;2553	ENSP00000371462:H2791P;ENSP00000382380:H2553P;ENSP00000300231:H2553P	ENSP00000300231:H2553P	H	+	2	0	MAP1A	41608621	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	5.073000	0.64395	2.148000	0.66965	0.379000	0.24179	CAC	MAP1A	-	NULL	ENSG00000166963		0.642	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	46	0.00	0	A	NM_002373		43821329	43821329	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	0.971	C
MAP1B	4131	genome.wustl.edu	37	5	71490945	71490945	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:71490945T>G	ENST00000296755.7	+	5	2061	c.1763T>G	c.(1762-1764)gTg>gGg	p.V588G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	588					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGGTAATGGTGAAAAAAGAC	0.448																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													45.0	48.0	47.0					5																	71490945		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1763T>G	5.37:g.71490945T>G	ENSP00000296755:p.Val588Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.V588G	ENST00000296755.7	37	c.1763	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	t	8.685	0.906088	0.17760	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.19938	2.11;2.11;2.11	5.81	4.65	0.58169	.	0.208390	0.33534	N	0.004801	T	0.19406	0.0466	L	0.54323	1.7	0.58432	D	0.999999	P;P	0.39282	0.666;0.666	B;B	0.35859	0.212;0.212	T	0.02075	-1.1218	10	0.39692	T	0.17	-9.7958	9.8466	0.41030	0.0:0.137:0.0:0.863	.	462;588	A2BDK6;P46821	.;MAP1B_HUMAN	G	588;605;462	ENSP00000296755:V588G;ENSP00000423444:V605G;ENSP00000423416:V462G	ENSP00000296755:V588G	V	+	2	0	MAP1B	71526701	1.000000	0.71417	0.988000	0.46212	0.646000	0.38490	4.700000	0.61803	1.031000	0.39867	-0.253000	0.11424	GTG	MAP1B	-	NULL	ENSG00000131711		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	246	0.80	2	T	NM_005909		71490945	71490945	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	missense	198	14.17	34	SNP	1.000	G
MAP1B	4131	genome.wustl.edu	37	5	71495041	71495041	+	Silent	SNP	T	T	G	rs3805452	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:71495041T>G	ENST00000296755.7	+	5	6157	c.5859T>G	c.(5857-5859)ggT>ggG	p.G1953G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1953					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGGTGGGTACTCAT	0.473																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													60.0	64.0	63.0					5																	71495041		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5859T>G	5.37:g.71495041T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.G1953	ENST00000296755.7	37	c.5859	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	409	0.49	2	T	NM_005909		71495041	71495041	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	silent	410	10.68	49	SNP	0.000	G
MAP2	4133	genome.wustl.edu	37	2	210560850	210560850	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:210560850T>G	ENST00000360351.4	+	7	4462	c.3956T>G	c.(3955-3957)gTg>gGg	p.V1319G	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.V1315G|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1319					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGCCTGAGGTGGAAAGGAGA	0.527																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													96.0	99.0	98.0					2																	210560850		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3956T>G	2.37:g.210560850T>G	ENSP00000353508:p.Val1319Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.V1319G	ENST00000360351.4	37	c.3956	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	T	6.572	0.473824	0.12521	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18016	2.24;2.24	5.73	4.55	0.56014	MAP2/Tau projection (1);	0.650998	0.14301	N	0.328273	T	0.17492	0.0420	L	0.47716	1.5	0.37906	D	0.931197	B;B	0.28470	0.178;0.213	B;B	0.28385	0.053;0.089	T	0.04103	-1.0977	10	0.36615	T	0.2	-0.855	11.8307	0.52293	0.1351:0.0:0.0:0.8649	.	1315;1319	P11137-3;P11137	.;MAP2_HUMAN	G	1319;1315	ENSP00000353508:V1319G;ENSP00000392164:V1315G	ENSP00000353508:V1319G	V	+	2	0	MAP2	210269095	0.991000	0.36638	0.751000	0.31187	0.424000	0.31475	2.207000	0.42788	0.965000	0.38133	0.528000	0.53228	GTG	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.527	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	192	0.51	1	T	NM_001039538		210560850	210560850	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	missense	143	12.80	21	SNP	0.950	G
MAP2	4133	genome.wustl.edu	37	2	210565008	210565008	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:210565008T>G	ENST00000360351.4	+	10	5036	c.4530T>G	c.(4528-4530)ggT>ggG	p.G1510G	MAP2_ENST00000199940.6_Silent_p.G154G|MAP2_ENST00000447185.1_Silent_p.G1506G|MAP2_ENST00000392194.1_Silent_p.G154G|MAP2_ENST00000361559.4_Silent_p.G154G|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1510					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGCAGCAGGTGGGGAATCAG	0.368																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													129.0	127.0	128.0					2																	210565008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4530T>G	2.37:g.210565008T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.G1510	ENST00000360351.4	37	c.4530	CCDS2384.1	2																																																																																			MAP2	-	NULL	ENSG00000078018		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	162	0.00	0	T	NM_001039538		210565008	210565008	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	silent	125	14.29	21	SNP	1.000	G
MAP2	4133	genome.wustl.edu	37	2	210569294	210569294	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:210569294A>C	ENST00000360351.4	+	11	5090				MAP2_ENST00000199940.6_Missense_Mutation_p.T213P|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AATACAGCCCACCTCAGCAGG	0.468																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													142.0	142.0	142.0					2																	210569294		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4585-1010A>C	2.37:g.210569294A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.T213P	ENST00000360351.4	37	c.637	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	A	8.247	0.808137	0.16467	.	.	ENSG00000078018	ENST00000199940;ENST00000452717	T;T	0.46819	1.9;0.86	5.47	-0.491	0.12045	.	.	.	.	.	T	0.25975	0.0633	N	0.22421	0.69	0.80722	D	1	B	0.20550	0.046	B	0.19666	0.026	T	0.27331	-1.0077	9	0.02654	T	1	.	10.4595	0.44570	0.4129:0.0:0.0:0.5871	.	213	Q8IUX2	.	P	213;155	ENSP00000199940:T213P;ENSP00000388824:T155P	ENSP00000199940:T213P	T	+	1	0	MAP2	210277539	0.998000	0.40836	0.956000	0.39512	0.385000	0.30292	1.652000	0.37313	0.320000	0.23234	0.482000	0.46254	ACC	MAP2	-	NULL	ENSG00000078018		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	252	0.00	0	A	NM_001039538		210569294	210569294	+1	no_errors	ENST00000199940	ensembl	human	known	69_37n	missense	144	13.77	23	SNP	0.997	C
MAP3K15	389840	genome.wustl.edu	37	X	19392777	19392777	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:19392777A>C	ENST00000338883.4	-	20	2590	c.2591T>G	c.(2590-2592)gTg>gGg	p.V864G	Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000359173.3_Splice_Site_p.V299G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Splice_Site_p.V696G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	864	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAACATGCCCACCTGCATTTA	0.517																																						dbGAP											0													83.0	71.0	75.0					X																	19392777		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2590-1T>G	X.37:g.19392777A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V864G	ENST00000338883.4	37	c.2591		X	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010835	0.75046	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.66280	-0.2;-0.2;-0.2	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80915	-0.1169	10	0.87932	D	0	.	14.7686	0.69659	1.0:0.0:0.0:0.0	.	339;864	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	G	864;299;696	ENSP00000345629:V864G;ENSP00000352093:V299G;ENSP00000428356:V696G	ENSP00000345629:V864G	V	-	2	0	MAP3K15	19302698	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.094000	0.76944	1.937000	0.56155	0.427000	0.28365	GTG	MAP3K15	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000180815		0.517	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		108	0.90	1	A	NM_001001671	Missense_Mutation	19392777	19392777	-1	no_errors	ENST00000338883	ensembl	human	known	69_37n	missense	135	16.15	26	SNP	1.000	C
MAP4	4134	genome.wustl.edu	37	3	47957818	47957818	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:47957818A>C	ENST00000360240.6	-	7	2017	c.1499T>G	c.(1498-1500)gTg>gGg	p.V500G	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.V517G|MAP4_ENST00000395734.3_Missense_Mutation_p.V500G	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	500	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CAACAAGCCCACTTCTTTTAC	0.502																																						dbGAP											0													173.0	162.0	166.0					3																	47957818		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1499T>G	3.37:g.47957818A>C	ENSP00000353375:p.Val500Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.V500G	ENST00000360240.6	37	c.1499	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324355	0.41197	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.11063	2.81;2.9;2.92	4.39	4.39	0.52855	.	.	.	.	.	T	0.19248	0.0462	L	0.44542	1.39	0.49213	D	0.99976	D;D;P	0.67145	0.996;0.984;0.911	P;P;P	0.57324	0.818;0.791;0.467	T	0.00569	-1.1666	9	0.56958	D	0.05	1.6049	11.8641	0.52482	1.0:0.0:0.0:0.0	.	477;500;500	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	G	500;517;500	ENSP00000379083:V500G;ENSP00000407602:V517G;ENSP00000353375:V500G	ENSP00000353375:V500G	V	-	2	0	MAP4	47932822	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.959000	0.29240	1.959000	0.56917	0.418000	0.28097	GTG	MAP4	-	NULL	ENSG00000047849		0.502	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	250	0.00	0	A	NM_002375		47957818	47957818	-1	no_errors	ENST00000360240	ensembl	human	known	69_37n	missense	264	12.17	37	SNP	0.012	C
MAP4	4134	genome.wustl.edu	37	3	47958502	47958502	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:47958502A>C	ENST00000360240.6	-	7	1333	c.815T>G	c.(814-816)gTg>gGg	p.V272G	MAP4_ENST00000383737.4_Missense_Mutation_p.V272G|MAP4_ENST00000426837.2_Missense_Mutation_p.V289G|MAP4_ENST00000395734.3_Missense_Mutation_p.V272G	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	272	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AGCCAATGCCACCTCGGTTTT	0.473																																						dbGAP											0													406.0	344.0	365.0					3																	47958502		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.815T>G	3.37:g.47958502A>C	ENSP00000353375:p.Val272Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.V272G	ENST00000360240.6	37	c.815	CCDS33750.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.07|13.07	2.126315|2.126315	0.37533|0.37533	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240|ENST00000423088	T;T;T;T|.	0.12774|.	2.72;2.87;3.02;2.65|.	4.97|4.97	-0.903|-0.903	0.10534|0.10534	.|.	.|.	.|.	.|.	.|.	T|T	0.45236|0.45236	0.1332|0.1332	M|M	0.78456|0.78456	2.415|2.415	0.09310|0.09310	N|N	1|1	D;P;P|.	0.54964|.	0.969;0.905;0.757|.	P;P;B|.	0.48189|.	0.56;0.57;0.367|.	T|T	0.44483|0.44483	-0.9325|-0.9325	9|5	0.66056|.	D|.	0.02|.	0.6109|0.6109	3.0617|3.0617	0.06201|0.06201	0.5221:0.0:0.1775:0.3004|0.5221:0.0:0.1775:0.3004	.|.	249;272;272|.	C9JFC3;P27816-6;P27816|.	.;.;MAP4_HUMAN|.	G|G	272;272;289;272|241	ENSP00000373243:V272G;ENSP00000379083:V272G;ENSP00000407602:V289G;ENSP00000353375:V272G|.	ENSP00000353375:V272G|.	V|W	-|-	2|1	0|0	MAP4|MAP4	47933506|47933506	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.057000|0.057000	0.15508|0.15508	1.351000|1.351000	0.34022|0.34022	0.023000|0.023000	0.15187|0.15187	-0.353000|-0.353000	0.07706|0.07706	GTG|TGG	MAP4	-	NULL	ENSG00000047849		0.473	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	388	0.51	2	A	NM_002375		47958502	47958502	-1	no_errors	ENST00000360240	ensembl	human	known	69_37n	missense	405	15.91	77	SNP	0.000	C
MAP4K4	9448	genome.wustl.edu	37	2	102480377	102480377	+	Intron	SNP	A	A	C	rs202035673		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:102480377A>C	ENST00000347699.4	+	17	1866				MAP4K4_ENST00000324219.4_Missense_Mutation_p.H654P|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.H549P|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000413150.2_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4						intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGCACACCACCATCTTCGT	0.537																																						dbGAP											0													295.0	288.0	290.0					2																	102480377		2028	4179	6207	-	-	-	SO:0001627	intron_variant	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1867-1015A>C	2.37:g.102480377A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.H654P	ENST00000347699.4	37	c.1961	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204386	0.38905	.	.	ENSG00000071054	ENST00000324219;ENST00000350878;ENST00000418101	T;T;T	0.42131	0.98;0.98;0.98	5.98	5.98	0.97165	.	0.195401	0.44902	D	0.000408	T	0.35682	0.0940	L	0.40543	1.245	0.44247	D	0.997097	B;B;B	0.31730	0.337;0.072;0.098	B;B;B	0.28011	0.085;0.059;0.023	T	0.09596	-1.0667	10	0.27785	T	0.31	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	549;569;654	B7Z388;B7Z3V5;G5E948	.;.;.	P	654;549;189	ENSP00000313644:H654P;ENSP00000343658:H549P;ENSP00000414766:H189P	ENSP00000313644:H654P	H	+	2	0	MAP4K4	101846809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.978000	0.63799	2.288000	0.76882	0.528000	0.53228	CAC	MAP4K4	-	NULL	ENSG00000071054		0.537	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	371	0.27	1	A	NM_004834		102480377	102480377	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	missense	285	10.66	34	SNP	1.000	C
MAP4K4	9448	genome.wustl.edu	37	2	102480405	102480405	+	Intron	SNP	A	A	C	rs569220806		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:102480405A>C	ENST00000347699.4	+	17	1866				MAP4K4_ENST00000324219.4_Silent_p.P663P|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000350878.4_Silent_p.P558P|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000413150.2_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4						intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCCATGTCCACCTTCCCGCA	0.537																																						dbGAP											0													209.0	205.0	206.0					2																	102480405		2001	4158	6159	-	-	-	SO:0001627	intron_variant	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1867-987A>C	2.37:g.102480405A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75172|Q9NST7	Missense_Mutation	SNP	pfam_Citron,superfamily_Kinase-like_dom,smart_Citron	p.T403P	ENST00000347699.4	37	c.1207	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276904	0.23307	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.98	4.84	0.62591	.	.	.	.	.	T	0.63593	0.2524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61197	-0.7111	4	.	.	.	.	11.8391	0.52344	0.9324:0.0:0.0676:0.0	.	.	.	.	P	403	.	.	T	+	1	0	MAP4K4	101846837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.632000	0.61311	1.097000	0.41459	0.528000	0.53228	ACC	MAP4K4	-	superfamily_Kinase-like_dom	ENSG00000071054		0.537	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	294	1.00	3	A	NM_004834		102480405	102480405	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000421882	ensembl	human	novel	69_37n	missense	220	15.00	39	SNP	1.000	C
MAP7D2	256714	genome.wustl.edu	37	X	20060746	20060746	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:20060746A>C	ENST00000379651.3	-	7	776	c.758T>G	c.(757-759)gTg>gGg	p.V253G	MAP7D2_ENST00000543767.1_Splice_Site_p.V138G|MAP7D2_ENST00000379643.5_Splice_Site_p.V294G|MAP7D2_ENST00000452324.3_Splice_Site_p.V201G|MAP7D2_ENST00000443379.3_Splice_Site_p.V208G	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	253					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CACCTTCTCCACCTGTAGGGG	0.488																																						dbGAP											0													140.0	123.0	129.0					X																	20060746		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.757-1T>G	X.37:g.20060746A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.V294G	ENST00000379651.3	37	c.881	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	A	7.964	0.747582	0.15710	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	5.21	-1.56	0.08532	.	1.155030	0.06314	N	0.703166	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.24721	0.067;0.065;0.11;0.067;0.065	B;B;B;B;B	0.22601	0.018;0.04;0.04;0.018;0.04	T	0.48281	-0.9049	10	0.22706	T	0.39	0.08	10.1604	0.42849	0.459:0.0:0.541:0.0	.	208;201;294;253;138	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	G	253;294;138;208;201	ENSP00000368972:V253G;ENSP00000368964:V294G;ENSP00000440691:V138G;ENSP00000388239:V208G;ENSP00000413301:V201G	ENSP00000368964:V294G	V	-	2	0	MAP7D2	19970667	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.332000	0.19751	-0.310000	0.08766	-0.287000	0.09952	GTG	MAP7D2	-	NULL	ENSG00000184368		0.488	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	310	0.00	0	A	NM_152780	Missense_Mutation	20060746	20060746	-1	no_errors	ENST00000379643	ensembl	human	known	69_37n	missense	231	20.41	60	SNP	0.007	C
MAPKAPK3	7867	genome.wustl.edu	37	3	50677900	50677900	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:50677900A>C	ENST00000446044.1	+	5	919	c.323A>C	c.(322-324)cAc>cCc	p.H108P	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.H108P	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGAACATGCACCATGGCAAG	0.602																																						dbGAP											0													173.0	162.0	166.0					3																	50677900		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.323A>C	3.37:g.50677900A>C	ENSP00000396467:p.His108Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU67	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H108P	ENST00000446044.1	37	c.323	CCDS2832.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480017	0.84747	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955;ENST00000457064	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.58	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054391	0.64402	D	0.000001	T	0.51584	0.1683	N	0.25060	0.705	0.58432	D	0.999994	D	0.63880	0.993	D	0.65323	0.934	T	0.53301	-0.8458	10	0.56958	D	0.05	-24.2532	12.4873	0.55881	0.86:0.14:0.0:0.0	.	108	Q16644	MAPK3_HUMAN	P	108	ENSP00000396467:H108P;ENSP00000410970:H108P;ENSP00000350639:H108P;ENSP00000402045:H108P	ENSP00000350639:H108P	H	+	2	0	MAPKAPK3	50652904	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.307000	0.96226	0.919000	0.36945	0.533000	0.62120	CAC	MAPKAPK3	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000114738		0.602	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAPKAPK3	HGNC	protein_coding	OTTHUMT00000346237.1	155	0.64	1	A	NM_004635		50677900	50677900	+1	no_errors	ENST00000357955	ensembl	human	known	69_37n	missense	133	12.34	19	SNP	0.998	C
MAPKAPK3	7867	genome.wustl.edu	37	3	50679147	50679147	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:50679147T>G	ENST00000446044.1	+	6	965	c.369T>G	c.(367-369)ggT>ggG	p.G123G	MAPKAPK3_ENST00000357955.2_Silent_p.G123G	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GCATGGAAGGTGGTGAGTTGT	0.542																																						dbGAP											0													200.0	168.0	179.0					3																	50679147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.369T>G	3.37:g.50679147T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU67	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G123	ENST00000446044.1	37	c.369	CCDS2832.1	3																																																																																			MAPKAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000114738		0.542	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAPKAPK3	HGNC	protein_coding	OTTHUMT00000346237.1	49	0.00	0	T	NM_004635		50679147	50679147	+1	no_errors	ENST00000357955	ensembl	human	known	69_37n	silent	38	29.63	16	SNP	0.986	G
MAPT	4137	genome.wustl.edu	37	17	44067366	44067366	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:44067366A>C	ENST00000571987.1	+	7	1305	c.1305A>C	c.(1303-1305)ccA>ccC	p.P435P	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.P435P|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Silent_p.P435P|MAPT_ENST00000415613.2_Silent_p.P435P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	435					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GCCCAGAGCCACCTTCCTCTC	0.507																																						dbGAP											0													188.0	190.0	189.0					17																	44067366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1305A>C	17.37:g.44067366A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.P435	ENST00000571987.1	37	c.1305	CCDS11501.1	17																																																																																			MAPT	-	NULL	ENSG00000186868		0.507	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	243	0.41	1	A	NM_016835		44067366	44067366	+1	no_errors	ENST00000344290	ensembl	human	known	69_37n	silent	303	18.83	71	SNP	0.906	C
MARCH7	64844	genome.wustl.edu	37	2	160605208	160605208	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160605208T>G	ENST00000259050.4	+	5	1529	c.1407T>G	c.(1405-1407)ggT>ggG	p.G469G	MARCH7_ENST00000539065.1_Silent_p.G413G|MARCH7_ENST00000409175.1_Silent_p.G469G|MARCH7_ENST00000409591.1_Silent_p.G431G	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	469					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CGGCTCAAGGTGGAAGAAATA	0.488																																						dbGAP											0													164.0	173.0	170.0					2																	160605208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1407T>G	2.37:g.160605208T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.G469	ENST00000259050.4	37	c.1407	CCDS2210.1	2																																																																																			MARCH7	-	NULL	ENSG00000136536		0.488	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3	192	0.52	1	T	NM_022826		160605208	160605208	+1	no_errors	ENST00000259050	ensembl	human	known	69_37n	silent	176	11.50	23	SNP	0.993	G
MARK2	2011	genome.wustl.edu	37	11	63667415	63667415	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:63667415A>C	ENST00000509502.2	+	8	965	c.502A>C	c.(502-504)Acc>Ccc	p.T168P	MARK2_ENST00000408948.3_Missense_Mutation_p.T168P|MARK2_ENST00000315032.8_Missense_Mutation_p.T201P|MARK2_ENST00000502399.3_Missense_Mutation_p.T201P|MARK2_ENST00000377810.3_Missense_Mutation_p.T168P|MARK2_ENST00000361128.5_Missense_Mutation_p.T201P|MARK2_ENST00000513765.2_Missense_Mutation_p.T168P|MARK2_ENST00000413835.2_Missense_Mutation_p.T201P|MARK2_ENST00000402010.2_Missense_Mutation_p.T201P|MARK2_ENST00000377809.4_Missense_Mutation_p.T201P|MARK2_ENST00000508192.1_Missense_Mutation_p.T201P|MARK2_ENST00000425897.2_Missense_Mutation_p.T168P|MARK2_ENST00000350490.7_Missense_Mutation_p.T201P	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAATGAATTCACCTTTGGGAA	0.488																																						dbGAP											0													155.0	150.0	152.0					11																	63667415		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.502A>C	11.37:g.63667415A>C	ENSP00000423974:p.Thr168Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.T201P	ENST00000509502.2	37	c.601	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	a	28.0	4.878614	0.91740	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053776	0.64402	D	0.000001	T	0.72045	0.3412	N	0.25380	0.74	0.80722	D	1	P;P;P;D;P;P	0.63880	0.792;0.945;0.862;0.993;0.94;0.862	P;P;P;D;P;P	0.75020	0.867;0.791;0.791;0.985;0.889;0.791	T	0.75534	-0.3284	10	0.72032	D	0.01	.	14.7168	0.69275	1.0:0.0:0.0:0.0	.	168;168;201;201;201;201	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	P	201;201;201;201;168;201;201;201;201;168;168;168;168	ENSP00000385751:T201P;ENSP00000326632:T201P;ENSP00000367040:T201P;ENSP00000389184:T201P;ENSP00000367041:T168P;ENSP00000425765:T201P;ENSP00000355091:T201P;ENSP00000294247:T201P;ENSP00000423974:T168P;ENSP00000421075:T168P;ENSP00000386128:T168P;ENSP00000415494:T168P	ENSP00000326632:T201P	T	+	1	0	MARK2	63423991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.323000	0.79105	2.305000	0.77605	0.529000	0.55759	ACC	MARK2	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000072518		0.488	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	273	0.00	0	A	NM_017490		63667415	63667415	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	missense	167	13.02	25	SNP	1.000	C
MARK2	2011	genome.wustl.edu	37	11	63667506	63667506	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:63667506T>G	ENST00000509502.2	+	8	1056	c.593T>G	c.(592-594)gTg>gGg	p.V198G	MARK2_ENST00000408948.3_Missense_Mutation_p.V198G|MARK2_ENST00000315032.8_Missense_Mutation_p.V231G|MARK2_ENST00000502399.3_Missense_Mutation_p.V231G|MARK2_ENST00000377810.3_Missense_Mutation_p.V198G|MARK2_ENST00000361128.5_Missense_Mutation_p.V231G|MARK2_ENST00000513765.2_Missense_Mutation_p.V198G|MARK2_ENST00000413835.2_Missense_Mutation_p.V231G|MARK2_ENST00000402010.2_Missense_Mutation_p.V231G|MARK2_ENST00000377809.4_Missense_Mutation_p.V231G|MARK2_ENST00000508192.1_Missense_Mutation_p.V231G|MARK2_ENST00000425897.2_Missense_Mutation_p.V198G|MARK2_ENST00000350490.7_Missense_Mutation_p.V231G	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGACCCGAGGTGGATGTGTGG	0.498																																						dbGAP											0													150.0	161.0	157.0					11																	63667506		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.593T>G	11.37:g.63667506T>G	ENSP00000423974:p.Val198Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.V231G	ENST00000509502.2	37	c.692	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	t	26.7	4.760948	0.89932	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.065447	0.64402	D	0.000012	T	0.54143	0.1840	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.57266	-0.7841	10	0.87932	D	0	.	14.7005	0.69152	0.0:0.0:0.0:1.0	.	198;198;231;231;231;231	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	G	231;231;231;231;198;231;231;231;231;198;198;198;198	ENSP00000385751:V231G;ENSP00000326632:V231G;ENSP00000367040:V231G;ENSP00000389184:V231G;ENSP00000367041:V198G;ENSP00000425765:V231G;ENSP00000355091:V231G;ENSP00000294247:V231G;ENSP00000423974:V198G;ENSP00000421075:V198G;ENSP00000386128:V198G;ENSP00000415494:V198G	ENSP00000326632:V231G	V	+	2	0	MARK2	63424082	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.865000	0.87049	2.301000	0.77427	0.524000	0.50904	GTG	MARK2	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000072518		0.498	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	256	0.39	1	T	NM_017490		63667506	63667506	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	missense	185	12.68	27	SNP	1.000	G
MARS	4141	genome.wustl.edu	37	12	57892008	57892008	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57892008A>C	ENST00000262027.5	+	8	973	c.839A>C	c.(838-840)cAc>cCc	p.H280P	MARS_ENST00000315473.5_Missense_Mutation_p.H46P|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	280					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AATGTCCCCCACCTTGGGAAC	0.562																																						dbGAP											0													168.0	124.0	139.0					12																	57892008		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.839A>C	12.37:g.57892008A>C	ENSP00000262027:p.His280Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.H280P	ENST00000262027.5	37	c.839	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685274	0.88639	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;D	0.82803	-1.37;-1.65	4.7	4.7	0.59300	Aminoacyl-tRNA synthetase, class I (M) (1);Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95919	0.8929	10	0.87932	D	0	-19.2865	11.9918	0.53180	1.0:0.0:0.0:0.0	.	46;153;280	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	P	280;46	ENSP00000262027:H280P;ENSP00000314653:H46P	ENSP00000262027:H280P	H	+	2	0	MARS	56178275	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.510000	0.73729	1.884000	0.54569	0.459000	0.35465	CAC	MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	ENSG00000166986		0.562	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	72	0.00	0	A	NM_004990		57892008	57892008	+1	no_errors	ENST00000262027	ensembl	human	known	69_37n	missense	85	13.13	13	SNP	1.000	C
MAST2	23139	genome.wustl.edu	37	1	46463447	46463447	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:46463447A>C	ENST00000361297.2	+	6	927	c.644A>C	c.(643-645)cAc>cCc	p.H215P	MAST2_ENST00000372009.2_Missense_Mutation_p.H215P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCACCTGCTCACTTTTCTTTT	0.473																																						dbGAP											0													146.0	138.0	141.0					1																	46463447		1874	4112	5986	-	-	-	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.644A>C	1.37:g.46463447A>C	ENSP00000354671:p.His215Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.H215P	ENST00000361297.2	37	c.644	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700931	0.88924	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625;ENST00000372008	T;T;T	0.29142	1.58;1.58;1.58	5.66	5.66	0.87406	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.74881	2.28	0.47905	D	0.999546	D;D;D;D	0.89917	0.988;0.991;1.0;1.0	D;D;D;D	0.91635	0.977;0.98;0.999;0.998	T	0.56727	-0.7931	10	0.44086	T	0.13	-19.9746	15.5595	0.76229	1.0:0.0:0.0:0.0	.	215;72;215;215	Q6P0Q8-2;E9PBM6;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	P	215;215;72;100	ENSP00000354671:H215P;ENSP00000361079:H215P;ENSP00000361078:H100P	ENSP00000354671:H215P	H	+	2	0	MAST2	46236034	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.747000	0.91610	2.156000	0.67533	0.533000	0.62120	CAC	MAST2	-	pfam_MA_Ser/Thr_Kinase_dom	ENSG00000086015		0.473	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	156	0.00	0	A	NM_015112		46463447	46463447	+1	no_errors	ENST00000361297	ensembl	human	known	69_37n	missense	172	11.73	23	SNP	1.000	C
MAST2	23139	genome.wustl.edu	37	1	46487647	46487647	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:46487647A>C	ENST00000361297.2	+	12	1599	c.1316A>C	c.(1315-1317)cAc>cCc	p.H439P	MAST2_ENST00000372009.2_Missense_Mutation_p.H369P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGTTCTACCACCTTTTAGAA	0.512																																						dbGAP											0													251.0	258.0	256.0					1																	46487647		2026	4195	6221	-	-	-	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1316A>C	1.37:g.46487647A>C	ENSP00000354671:p.His439Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.H439P	ENST00000361297.2	37	c.1316	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722811	0.89298	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.31247	1.5;1.5;1.5	5.14	5.14	0.70334	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.156839	0.53938	D	0.000050	T	0.62466	0.2430	M	0.88842	2.985	0.80722	D	1	P;D;D;D;D	0.89917	0.907;0.988;0.967;1.0;1.0	P;D;P;D;D	0.91635	0.808;0.977;0.864;0.999;0.998	T	0.70978	-0.4725	10	0.87932	D	0	-21.4573	15.6711	0.77274	1.0:0.0:0.0:0.0	.	113;369;113;369;439	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	P	439;369;113;324	ENSP00000354671:H439P;ENSP00000361079:H369P;ENSP00000361078:H324P	ENSP00000354671:H439P	H	+	2	0	MAST2	46260234	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.287000	0.95975	2.242000	0.73789	0.533000	0.62120	CAC	MAST2	-	pfam_MA_Ser/Thr_Kinase_dom	ENSG00000086015		0.512	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	205	0.00	0	A	NM_015112		46487647	46487647	+1	no_errors	ENST00000361297	ensembl	human	known	69_37n	missense	232	21.85	66	SNP	1.000	C
MAST2	23139	genome.wustl.edu	37	1	46494512	46494512	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:46494512T>G	ENST00000361297.2	+	18	2408	c.2125T>G	c.(2125-2127)Tgg>Ggg	p.W709G	MAST2_ENST00000372009.2_Missense_Mutation_p.W639G	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGTGGACTGGTGGGCCATGGG	0.572																																						dbGAP											0													178.0	183.0	181.0					1																	46494512		2041	4205	6246	-	-	-	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2125T>G	1.37:g.46494512T>G	ENSP00000354671:p.Trp709Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.W709G	ENST00000361297.2	37	c.2125	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319741	0.81469	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.46819	0.86;0.86;0.86	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	0.981;0.999;1.0;1.0	D;D;D;D	0.87578	0.969;0.99;0.998;0.992	D	0.86428	0.1759	10	0.87932	D	0	-9.8157	14.6952	0.69115	0.0:0.0:0.0:1.0	.	639;383;639;709	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	G	709;639;383;594	ENSP00000354671:W709G;ENSP00000361079:W639G;ENSP00000361078:W594G	ENSP00000354671:W709G	W	+	1	0	MAST2	46267099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.993000	0.88291	1.920000	0.55613	0.459000	0.35465	TGG	MAST2	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000086015		0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	101	0.00	0	T	NM_015112		46494512	46494512	+1	no_errors	ENST00000361297	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	G
MATR3	9782	genome.wustl.edu	37	5	138661011	138661011	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:138661011T>G	ENST00000394805.3	+	13	2483				MATR3_ENST00000510056.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Intron|MATR3_ENST00000502929.1_Silent_p.G725G|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Silent_p.G725G	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3						cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTATGGAAGGTTTTGTCACTC	0.413																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2149-118T>G	5.37:g.138661011T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.G725	ENST00000394805.3	37	c.2175	CCDS4210.1	5																																																																																			MATR3	-	NULL	ENSG00000015479		0.413	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	47	0.00	0	T	NM_018834		138661011	138661011	+1	no_errors	ENST00000394800	ensembl	human	novel	69_37n	silent	40	23.08	12	SNP	1.000	G
MAVS	57506	genome.wustl.edu	37	20	3844922	3844922	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:3844922A>C	ENST00000428216.2	+	6	773	c.645A>C	c.(643-645)acA>acC	p.T215T	MAVS_ENST00000416600.2_Silent_p.T74T|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	215					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGCCTCACACCATCCCGTG	0.612																																						dbGAP											0													92.0	92.0	92.0					20																	3844922		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.645A>C	20.37:g.3844922A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	NULL	p.T215	ENST00000428216.2	37	c.645	CCDS33437.1	20																																																																																			MAVS	-	NULL	ENSG00000088888		0.612	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	35	0.00	0	A	NM_020746		3844922	3844922	+1	no_errors	ENST00000428216	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	0.000	C
MBIP	51562	genome.wustl.edu	37	14	36768299	36768299	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:36768299T>G	ENST00000416007.4	-	9	1112	c.1025A>C	c.(1024-1026)cAc>cCc	p.H342P	MBIP_ENST00000359527.7_3'UTR|MBIP_ENST00000318473.7_Missense_Mutation_p.H341P	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	342	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCATGGAAGGTGGTGGGTTGC	0.368																																						dbGAP											0													319.0	293.0	302.0					14																	36768299		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.1025A>C	14.37:g.36768299T>G	ENSP00000399718:p.His342Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	NULL	p.H342P	ENST00000416007.4	37	c.1025	CCDS9658.1	14	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023732	0.35701	.	.	ENSG00000151332	ENST00000416007;ENST00000318473	T;T	0.31769	1.48;1.48	5.22	3.98	0.46160	.	0.424789	0.26623	N	0.023342	T	0.16642	0.0400	N	0.08118	0	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.09377	0.001;0.004;0.004	T	0.05767	-1.0865	10	0.72032	D	0.01	-23.6874	11.1955	0.48711	0.0:0.0:0.1535:0.8465	.	316;341;342	B4DE55;Q9NS73-5;Q9NS73	.;.;MBIP1_HUMAN	P	342;341	ENSP00000399718:H342P;ENSP00000324444:H341P	ENSP00000324444:H342P	H	-	2	0	MBIP	35838050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.862000	0.39448	2.088000	0.63022	0.456000	0.33151	CAC	MBIP	-	NULL	ENSG00000151332		0.368	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	342	0.29	1	T	NM_016586		36768299	36768299	-1	no_errors	ENST00000416007	ensembl	human	known	69_37n	missense	170	24.78	56	SNP	1.000	G
MBIP	51562	genome.wustl.edu	37	14	36768302	36768302	+	Missense_Mutation	SNP	T	T	G	rs537837993		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:36768302T>G	ENST00000416007.4	-	9	1109	c.1022A>C	c.(1021-1023)cAc>cCc	p.H341P	MBIP_ENST00000359527.7_3'UTR|MBIP_ENST00000318473.7_Missense_Mutation_p.H340P	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	341	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TGGAAGGTGGTGGGTTGCCAT	0.368													T|||	1	0.000199681	0.0	0.0	5008	,	,		16413	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													331.0	304.0	313.0					14																	36768302		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.1022A>C	14.37:g.36768302T>G	ENSP00000399718:p.His341Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	NULL	p.H341P	ENST00000416007.4	37	c.1022	CCDS9658.1	14	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121731	0.37436	.	.	ENSG00000151332	ENST00000416007;ENST00000318473	T;T	0.31769	1.48;1.48	5.3	4.15	0.48705	.	0.427232	0.26620	N	0.023375	T	0.19485	0.0468	N	0.08118	0	0.80722	D	1	B;B;B	0.25105	0.031;0.118;0.118	B;B;B	0.34301	0.04;0.179;0.179	T	0.08229	-1.0732	10	0.54805	T	0.06	-18.8866	10.463	0.44592	0.0:0.0782:0.0:0.9218	.	315;340;341	B4DE55;Q9NS73-5;Q9NS73	.;.;MBIP1_HUMAN	P	341;340	ENSP00000399718:H341P;ENSP00000324444:H340P	ENSP00000324444:H341P	H	-	2	0	MBIP	35838053	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.831000	0.48144	0.958000	0.37956	0.456000	0.33151	CAC	MBIP	-	NULL	ENSG00000151332		0.368	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	346	0.00	0	T	NM_016586		36768302	36768302	-1	no_errors	ENST00000416007	ensembl	human	known	69_37n	missense	181	19.47	44	SNP	0.995	G
MBL2	4153	genome.wustl.edu	37	10	54527932	54527932	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:54527932T>G	ENST00000373968.3	-	4	776	c.712A>C	c.(712-714)Acc>Ccc	p.T238P		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	238	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AGATGGGAGGTGGAGCAGGGG	0.502																																						dbGAP											0													272.0	245.0	254.0					10																	54527932		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.712A>C	10.37:g.54527932T>G	ENSP00000363079:p.Thr238Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T238P	ENST00000373968.3	37	c.712	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785482	0.31593	.	.	ENSG00000165471	ENST00000373968	T	0.19806	2.12	5.13	-10.3	0.00346	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.586020	0.03319	N	0.191673	T	0.12050	0.0293	L	0.41906	1.305	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.11470	-1.0586	10	0.30078	T	0.28	7.5964	2.5576	0.04764	0.4505:0.2043:0.0689:0.2763	.	238	P11226	MBL2_HUMAN	P	238	ENSP00000363079:T238P	ENSP00000363079:T238P	T	-	1	0	MBL2	54197938	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.365000	0.00496	-2.487000	0.00519	-0.354000	0.07668	ACC	MBL2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000165471		0.502	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1	324	0.91	3	T	NM_000242		54527932	54527932	-1	no_errors	ENST00000373968	ensembl	human	known	69_37n	missense	216	16.15	42	SNP	0.000	G
MBOAT1	154141	genome.wustl.edu	37	6	20124753	20124753	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:20124753T>G	ENST00000324607.7	-	8	957	c.793A>C	c.(793-795)Acc>Ccc	p.T265P	MBOAT1_ENST00000541730.1_Missense_Mutation_p.T116P	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	265					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ACAAGGCAGGTGACAGGAAAG	0.453																																						dbGAP											0													181.0	156.0	164.0					6																	20124753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.793A>C	6.37:g.20124753T>G	ENSP00000324944:p.Thr265Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.T265P	ENST00000324607.7	37	c.793	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311614	0.60414	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.42513	0.97;0.97	5.48	4.24	0.50183	.	0.354778	0.31884	N	0.006915	T	0.28167	0.0695	L	0.45137	1.4	0.80722	D	1	P;P	0.43938	0.731;0.822	B;P	0.50896	0.395;0.653	T	0.15037	-1.0451	10	0.40728	T	0.16	-6.6799	4.8906	0.13724	0.2771:0.0832:0.0:0.6397	.	116;265	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	P	116;265	ENSP00000441568:T116P;ENSP00000324944:T265P	ENSP00000324944:T265P	T	-	1	0	MBOAT1	20232732	0.999000	0.42202	1.000000	0.80357	0.809000	0.45718	0.724000	0.25954	2.211000	0.71520	0.459000	0.35465	ACC	MBOAT1	-	pfam_MBOAT_fam	ENSG00000172197		0.453	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	352	0.00	0	T			20124753	20124753	-1	no_errors	ENST00000324607	ensembl	human	known	69_37n	missense	274	10.71	33	SNP	1.000	G
MBOAT1	154141	genome.wustl.edu	37	6	20126778	20126778	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:20126778A>C	ENST00000324607.7	-	7	848	c.684T>G	c.(682-684)ggT>ggG	p.G228G	MBOAT1_ENST00000536798.1_Silent_p.G228G|MBOAT1_ENST00000541730.1_Silent_p.G79G	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	228					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGCTGTGGAAACCTTTTCGCT	0.428																																						dbGAP											0													162.0	159.0	160.0					6																	20126778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.684T>G	6.37:g.20126778A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	pfam_MBOAT_fam	p.G228	ENST00000324607.7	37	c.684	CCDS34346.1	6																																																																																			MBOAT1	-	pfam_MBOAT_fam	ENSG00000172197		0.428	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	548	0.00	0	A			20126778	20126778	-1	no_errors	ENST00000324607	ensembl	human	known	69_37n	silent	362	10.17	41	SNP	0.099	C
MC3R	4159	genome.wustl.edu	37	20	54823961	54823961	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:54823961T>C	ENST00000243911.2	+	1	174	c.62T>C	c.(61-63)cTc>cCc	p.L21P		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCGGAGCACCTCCAAGCCCCT	0.582																																						dbGAP											0													113.0	112.0	112.0					20																	54823961		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.62T>C	20.37:g.54823961T>C	ENSP00000243911:p.Leu21Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN27|Q9H517	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt	p.L21P	ENST00000243911.2	37	c.62	CCDS13449.2	20	.	.	.	.	.	.	.	.	.	.	T	0.199	-1.046247	0.01997	.	.	ENSG00000124089	ENST00000243911	T	0.37058	1.22	4.95	-3.25	0.05079	.	1.242900	0.05994	N	0.646459	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26258	-1.0108	10	0.35671	T	0.21	.	10.9971	0.47582	0.0:0.5829:0.0:0.4171	.	58	P41968	MC3R_HUMAN	P	21	ENSP00000243911:L21P	ENSP00000243911:L21P	L	+	2	0	MC3R	54257368	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-1.301000	0.02749	-0.959000	0.03618	-0.417000	0.06048	CTC	MC3R	-	prints_Mcort_3_rcpt	ENSG00000124089		0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	276	0.00	0	T			54823961	54823961	+1	no_errors	ENST00000243911	ensembl	human	known	69_37n	missense	263	12.29	37	SNP	0.000	C
MCC	4163	genome.wustl.edu	37	5	112406842	112406842	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:112406842A>C	ENST00000302475.4	-	10	1867	c.1304T>G	c.(1303-1305)gTg>gGg	p.V435G	MCC_ENST00000515367.2_Missense_Mutation_p.V372G|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.V625G	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	435					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTATTTTCCCACCAGCATGCT	0.502																																						dbGAP											0													271.0	218.0	236.0					5																	112406842		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1304T>G	5.37:g.112406842A>C	ENSP00000305617:p.Val435Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.V435G	ENST00000302475.4	37	c.1304	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195587	0.58126	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.47528	0.84;0.84;0.84	5.15	5.15	0.70609	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.076520	0.53938	D	0.000058	T	0.52306	0.1726	N	0.14661	0.345	0.80722	D	1	D;P;D;D	0.59357	0.985;0.91;0.981;0.973	D;P;D;P	0.73708	0.981;0.899;0.978;0.825	T	0.60546	-0.7242	10	0.72032	D	0.01	-29.5607	15.2672	0.73672	1.0:0.0:0.0:0.0	.	435;397;625;435	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	G	435;372;625	ENSP00000305617:V435G;ENSP00000421615:V372G;ENSP00000386227:V625G	ENSP00000305617:V435G	V	-	2	0	MCC	112434741	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.373000	0.79623	2.075000	0.62263	0.482000	0.46254	GTG	MCC	-	pfam_USH1C-bd_PDZ_domain	ENSG00000171444		0.502	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	263	0.00	0	A	NM_001085377		112406842	112406842	-1	no_errors	ENST00000302475	ensembl	human	known	69_37n	missense	201	12.99	30	SNP	1.000	C
MCC	4163	genome.wustl.edu	37	5	112437573	112437573	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:112437573A>C	ENST00000302475.4	-	6	1254	c.691T>G	c.(691-693)Tgg>Ggg	p.W231G	MCC_ENST00000515367.2_Missense_Mutation_p.W168G|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.W421G	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	231					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCTTCTCCCACCGAGACCTC	0.552																																						dbGAP											0													103.0	103.0	103.0					5																	112437573		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.691T>G	5.37:g.112437573A>C	ENSP00000305617:p.Trp231Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.W231G	ENST00000302475.4	37	c.691	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163295	0.57476	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.77620	-1.11;2.42;1.29	5.43	5.43	0.79202	.	0.065887	0.64402	D	0.000004	T	0.73179	0.3554	N	0.08118	0	0.80722	D	1	B;D;P;D	0.54601	0.023;0.967;0.718;0.967	B;P;B;P	0.62382	0.029;0.901;0.295;0.901	T	0.70999	-0.4719	10	0.14252	T	0.57	-16.2738	15.7674	0.78138	1.0:0.0:0.0:0.0	.	231;193;421;231	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	G	231;168;421	ENSP00000305617:W231G;ENSP00000421615:W168G;ENSP00000386227:W421G	ENSP00000305617:W231G	W	-	1	0	MCC	112465472	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.369000	0.79578	2.189000	0.69895	0.533000	0.62120	TGG	MCC	-	superfamily_tRNA-bd_arm	ENSG00000171444		0.552	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	202	0.49	1	A	NM_001085377		112437573	112437573	-1	no_errors	ENST00000302475	ensembl	human	known	69_37n	missense	139	13.12	21	SNP	0.996	C
MCF2L2	23101	genome.wustl.edu	37	3	183013094	183013094	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:183013094T>G	ENST00000328913.3	-	13	1966	c.1669A>C	c.(1669-1671)Acc>Ccc	p.T557P	MCF2L2_ENST00000447025.2_Missense_Mutation_p.T557P|MCF2L2_ENST00000473233.1_Missense_Mutation_p.T557P|MCF2L2_ENST00000414362.2_Missense_Mutation_p.T557P|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	557							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTACCCGAGGTGGAGGGCTGG	0.493																																						dbGAP											0													125.0	112.0	117.0					3																	183013094		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1669A>C	3.37:g.183013094T>G	ENSP00000328118:p.Thr557Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T557P	ENST00000328913.3	37	c.1669	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	T	1.261	-0.615853	0.03663	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.05199	4.58;4.59;3.72;3.48	4.86	-7.01	0.01594	.	1.065410	0.07213	N	0.859531	T	0.03827	0.0108	N	0.16478	0.41	0.09310	N	0.999997	B;B	0.12630	0.001;0.006	B;B	0.09377	0.004;0.004	T	0.43845	-0.9366	10	0.28530	T	0.3	.	11.5597	0.50769	0.2104:0.6478:0.0:0.1418	.	557;557	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	P	557;557;557;93;557	ENSP00000328118:T557P;ENSP00000420070:T557P;ENSP00000388190:T557P;ENSP00000414131:T557P	ENSP00000328118:T557P	T	-	1	0	MCF2L2	184495788	.	.	0.000000	0.03702	0.038000	0.13279	.	.	-1.415000	0.02022	0.533000	0.62120	ACC	MCF2L2	-	NULL	ENSG00000053524		0.493	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	170	0.00	0	T	NM_015078		183013094	183013094	-1	no_errors	ENST00000328913	ensembl	human	known	69_37n	missense	296	13.95	48	SNP	0.000	G
MCHR1	2847	genome.wustl.edu	37	22	41077396	41077396	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:41077396A>C	ENST00000249016.4	+	2	1429	c.733A>C	c.(733-735)Acc>Ccc	p.T245P	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	245					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CATCAGCATCACCCCTGTGTG	0.617																																						dbGAP											0													103.0	87.0	92.0					22																	41077396		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.733A>C	22.37:g.41077396A>C	ENSP00000249016:p.Thr245Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH1_rcpt,prints_MCH_rcpt,prints_7TM_GPCR_Rhodpsn	p.T245P	ENST00000249016.4	37	c.733	CCDS14004.1	22	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050773	0.75960	.	.	ENSG00000128285	ENST00000249016	T	0.72505	-0.66	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.093898	0.64402	D	0.000001	T	0.78464	0.4287	L	0.45228	1.405	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.80594	-0.1313	10	0.72032	D	0.01	.	14.0955	0.65019	1.0:0.0:0.0:0.0	.	245	Q99705	MCHR1_HUMAN	P	245	ENSP00000249016:T245P	ENSP00000249016:T245P	T	+	1	0	MCHR1	39407342	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.469000	0.80959	2.070000	0.61991	0.533000	0.62120	ACC	MCHR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000128285		0.617	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	115	0.85	1	A	NM_005297		41077396	41077396	+1	no_errors	ENST00000249016	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	C
MCM3AP	8888	genome.wustl.edu	37	21	47665080	47665080	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:47665080T>G	ENST00000397708.1	-	24	4933	c.4679A>C	c.(4678-4680)cAc>cCc	p.H1560P	AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1560P|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1560					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGGGGGCAGTGGGAAACCAG	0.478																																						dbGAP											0													36.0	39.0	38.0					21																	47665080		2199	4294	6493	-	-	-	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4679A>C	21.37:g.47665080T>G	ENSP00000380820:p.His1560Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.H1560P	ENST00000397708.1	37	c.4679	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	T	8.557	0.876979	0.17395	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03524	3.9;3.9	5.31	0.166	0.14999	.	0.440565	0.27379	N	0.019630	T	0.03608	0.0103	L	0.44542	1.39	0.09310	N	1	P;P	0.40731	0.608;0.728	B;B	0.37888	0.099;0.26	T	0.38045	-0.9679	10	0.52906	T	0.07	-5.2888	8.5616	0.33514	0.0:0.3922:0.0:0.6078	.	1560;55	O60318;B3KT88	MCM3A_HUMAN;.	P	1560;1560;55	ENSP00000380820:H1560P;ENSP00000291688:H1560P	ENSP00000291688:H1560P	H	-	2	0	MCM3AP	46489508	0.489000	0.26004	0.820000	0.32676	0.200000	0.23975	0.207000	0.17395	0.098000	0.17522	-0.366000	0.07423	CAC	MCM3AP	-	NULL	ENSG00000160294		0.478	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	53	0.00	0	T	NM_003906		47665080	47665080	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	missense	68	13.92	11	SNP	0.296	G
MCM7	4176	genome.wustl.edu	37	7	99691849	99691849	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99691849T>G	ENST00000303887.5	-	13	2440	c.1795A>C	c.(1795-1797)Acc>Ccc	p.T599P	MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.T423P|MIR106B_ENST00000385301.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	599	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGTATAGGTGGCATCCTTA	0.567																																						dbGAP											0													104.0	99.0	101.0					7																	99691849		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1795A>C	7.37:g.99691849T>G	ENSP00000307288:p.Thr599Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.T599P	ENST00000303887.5	37	c.1795	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405643	0.83230	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.06933	3.24;3.24	5.21	5.21	0.72293	.	0.123734	0.52532	D	0.000073	T	0.29817	0.0745	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.02526	-1.1146	10	0.62326	D	0.03	-13.2748	13.0756	0.59085	0.0:0.0:0.0:1.0	.	599	P33993	MCM7_HUMAN	P	599;536;492;423	ENSP00000307288:T599P;ENSP00000346171:T423P	ENSP00000307288:T599P	T	-	1	0	MCM7	99529785	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.760000	0.55235	2.193000	0.70182	0.459000	0.35465	ACC	MCM7	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase	ENSG00000166508		0.567	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	72	0.00	0	T			99691849	99691849	-1	no_errors	ENST00000303887	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	1.000	G
MDC1	9656	genome.wustl.edu	37	6	30672585	30672585	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30672585T>G	ENST00000376406.3	-	10	5022	c.4375A>C	c.(4375-4377)Acc>Ccc	p.T1459P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.T1195P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1459	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTGTGGAGGTGGAAGGCTGG	0.567								Other conserved DNA damage response genes																														dbGAP											0													113.0	125.0	121.0					6																	30672585		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4375A>C	6.37:g.30672585T>G	ENSP00000365588:p.Thr1459Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.T1459P	ENST00000376406.3	37	c.4375	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047095	0.36085	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.13307	2.6;2.6	4.46	0.68	0.17980	.	.	.	.	.	T	0.16514	0.0397	M	0.69823	2.125	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.72982	0.964;0.979	T	0.04467	-1.0949	9	0.66056	D	0.02	-1.7594	6.2015	0.20579	0.0:0.3566:0.0:0.6434	.	1195;1459	Q14676-2;Q14676	.;MDC1_HUMAN	P	1459;1195;1172;1025	ENSP00000365588:T1459P;ENSP00000365587:T1195P	ENSP00000365587:T1195P	T	-	1	0	MDC1	30780564	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.187000	0.09656	0.034000	0.15491	-0.643000	0.03959	ACC	MDC1	-	NULL	ENSG00000137337		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	214	0.92	2	T	NM_014641		30672585	30672585	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	183	15.28	33	SNP	0.000	G
MDC1	9656	genome.wustl.edu	37	6	30672810	30672810	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30672810T>G	ENST00000376406.3	-	10	4797	c.4150A>C	c.(4150-4152)Acc>Ccc	p.T1384P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.T1120P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1384	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGCTCAGGGGTGACAGGCTGC	0.547								Other conserved DNA damage response genes																														dbGAP											0													103.0	112.0	109.0					6																	30672810		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4150A>C	6.37:g.30672810T>G	ENSP00000365588:p.Thr1384Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.T1384P	ENST00000376406.3	37	c.4150	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660645	0.14645	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.08634	3.07;3.07	3.19	0.595	0.17490	.	.	.	.	.	T	0.03434	0.0099	M	0.63843	1.955	0.09310	N	1	D;P	0.54207	0.965;0.94	P;B	0.44811	0.461;0.272	T	0.32851	-0.9891	9	0.39692	T	0.17	.	3.3828	0.07260	0.0:0.1345:0.2378:0.6278	.	1120;1384	Q14676-2;Q14676	.;MDC1_HUMAN	P	1384;1120;950	ENSP00000365588:T1384P;ENSP00000365587:T1120P	ENSP00000365587:T1120P	T	-	1	0	MDC1	30780789	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.146000	0.10250	0.023000	0.15187	0.392000	0.25879	ACC	MDC1	-	NULL	ENSG00000137337		0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	248	0.00	0	T	NM_014641		30672810	30672810	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	224	13.46	35	SNP	0.000	G
MDC1	9656	genome.wustl.edu	37	6	30672954	30672954	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30672954T>G	ENST00000376406.3	-	10	4653	c.4006A>C	c.(4006-4008)Acc>Ccc	p.T1336P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.T1072P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1336	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTGTGGAGGTGGAAATCTGG	0.537								Other conserved DNA damage response genes																														dbGAP											0													140.0	154.0	149.0					6																	30672954		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4006A>C	6.37:g.30672954T>G	ENSP00000365588:p.Thr1336Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.T1336P	ENST00000376406.3	37	c.4006	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	8.189	0.795477	0.16327	.	.	ENSG00000137337	ENST00000376406;ENST00000376405	T;T	0.09817	2.94;2.94	2.86	0.392	0.16288	.	.	.	.	.	T	0.03651	0.0104	M	0.65498	2.005	0.09310	N	1	B;B	0.17667	0.023;0.014	B;B	0.15484	0.013;0.006	T	0.39313	-0.9620	9	0.48119	T	0.1	.	3.2446	0.06793	0.0:0.1462:0.2884:0.5654	.	1072;1336	Q14676-2;Q14676	.;MDC1_HUMAN	P	1336;1072	ENSP00000365588:T1336P;ENSP00000365587:T1072P	ENSP00000365587:T1072P	T	-	1	0	MDC1	30780933	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.140000	0.16056	0.082000	0.17018	0.392000	0.25879	ACC	MDC1	-	NULL	ENSG00000137337		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	314	0.63	2	T	NM_014641		30672954	30672954	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	282	15.06	50	SNP	0.000	G
MDC1	9656	genome.wustl.edu	37	6	30673816	30673816	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30673816T>G	ENST00000376406.3	-	10	3791	c.3144A>C	c.(3142-3144)ccA>ccC	p.P1048P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.P784P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1048	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTTTTGGGGTGGGGCTGGGG	0.542								Other conserved DNA damage response genes																														dbGAP											0													57.0	69.0	65.0					6																	30673816		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3144A>C	6.37:g.30673816T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	NULL	p.T109P	ENST00000376406.3	37	c.325	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	t	5.909	0.351774	0.11182	.	.	ENSG00000137337	ENST00000417033	.	.	.	4.53	-8.79	0.00820	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.20563	N	0.999886	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	-0.0101	0.5056	0.00587	0.3877:0.1736:0.2424:0.1963	.	.	.	.	P	109	.	.	T	-	1	0	MDC1	30781795	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.593000	0.05740	-1.111000	0.02988	0.364000	0.22116	ACC	MDC1	-	NULL	ENSG00000137337		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	193	0.52	1	T	NM_014641		30673816	30673816	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000417033	ensembl	human	known	69_37n	missense	186	10.10	21	SNP	0.000	G
MDC1	9656	genome.wustl.edu	37	6	30675209	30675209	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30675209T>G	ENST00000376406.3	-	9	3683	c.3036A>C	c.(3034-3036)ccA>ccC	p.P1012P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.P748P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1012				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTCAGCAGGTGGCATCTTGC	0.493								Other conserved DNA damage response genes																														dbGAP											0													106.0	99.0	101.0					6																	30675209		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3036A>C	6.37:g.30675209T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	NULL	p.T73P	ENST00000376406.3	37	c.217	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	t	5.166	0.216234	0.09810	.	.	ENSG00000137337	ENST00000417033	.	.	.	4.13	-1.5	0.08691	.	.	.	.	.	T	0.08358	0.0208	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.35822	-0.9773	4	.	.	.	-0.0215	3.9499	0.09364	0.0:0.3692:0.2029:0.4279	.	.	.	.	P	73	.	.	T	-	1	0	MDC1	30783188	0.000000	0.05858	0.006000	0.13384	0.044000	0.14063	-0.718000	0.04980	-0.144000	0.11314	0.364000	0.22116	ACC	MDC1	-	NULL	ENSG00000137337		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	264	0.00	0	T	NM_014641		30675209	30675209	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000417033	ensembl	human	known	69_37n	missense	258	12.71	38	SNP	0.001	G
MDC1	9656	genome.wustl.edu	37	6	30675885	30675885	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30675885A>C	ENST00000376406.3	-	8	3118	c.2471T>G	c.(2470-2472)gTg>gGg	p.V824G	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	824				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTCAGGGCCCACCCTCTCTGC	0.507								Other conserved DNA damage response genes																														dbGAP											0													204.0	224.0	217.0					6																	30675885		1511	2708	4219	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2471T>G	6.37:g.30675885A>C	ENSP00000365588:p.Val824Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.V824G	ENST00000376406.3	37	c.2471	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	a	6.985	0.551842	0.13374	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02656	4.21	5.24	-0.833	0.10782	.	1.290110	0.05966	N	0.641508	T	0.00724	0.0024	N	0.24115	0.695	0.20764	N	0.999857	P	0.41673	0.759	B	0.40410	0.328	T	0.42085	-0.9472	10	0.42905	T	0.14	-0.0085	1.4744	0.02423	0.3172:0.1301:0.0945:0.4582	.	824	Q14676	MDC1_HUMAN	G	824	ENSP00000365588:V824G	ENSP00000365588:V824G	V	-	2	0	MDC1	30783864	0.038000	0.19896	0.004000	0.12327	0.060000	0.15804	0.342000	0.19926	-0.016000	0.14127	-0.663000	0.03849	GTG	MDC1	-	NULL	ENSG00000137337		0.507	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	660	0.60	4	A	NM_014641		30675885	30675885	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	576	15.67	107	SNP	0.059	C
MDC1	9656	genome.wustl.edu	37	6	30680193	30680193	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30680193T>G	ENST00000376406.3	-	5	2173	c.1526A>C	c.(1525-1527)cAc>cCc	p.H509P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.H509P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	509	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTCTCCAGGTGGATCCCAGG	0.493								Other conserved DNA damage response genes																														dbGAP											0													116.0	123.0	121.0					6																	30680193		1509	2708	4217	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1526A>C	6.37:g.30680193T>G	ENSP00000365588:p.His509Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.H509P	ENST00000376406.3	37	c.1526	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	11.76	1.736049	0.30774	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03860	3.89;3.78	4.26	-0.148	0.13424	.	0.534156	0.14138	N	0.338905	T	0.02970	0.0088	M	0.66939	2.045	0.09310	N	1	P;P;P;B	0.51791	0.582;0.582;0.948;0.1	B;B;P;B	0.47470	0.329;0.162;0.548;0.077	T	0.34378	-0.9831	10	0.66056	D	0.02	-2.6014	4.8196	0.13383	0.1872:0.0:0.3855:0.4273	.	509;381;509;509	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	P	509;509;509;381	ENSP00000365588:H509P;ENSP00000365587:H509P	ENSP00000365587:H509P	H	-	2	0	MDC1	30788172	0.000000	0.05858	0.016000	0.15963	0.469000	0.32828	-0.088000	0.11198	0.202000	0.20498	0.459000	0.35465	CAC	MDC1	-	NULL	ENSG00000137337		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	201	0.99	2	T	NM_014641		30680193	30680193	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	155	14.21	26	SNP	0.122	G
MDC1	9656	genome.wustl.edu	37	6	30680999	30680999	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30680999A>C	ENST00000376406.3	-	5	1367	c.720T>G	c.(718-720)ggT>ggG	p.G240G	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.G240G	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	240	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTACAGTGGCACCTCTTCTGG	0.498								Other conserved DNA damage response genes																														dbGAP											0													98.0	105.0	103.0					6																	30680999		1509	2708	4217	-	-	-	SO:0001819	synonymous_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.720T>G	6.37:g.30680999A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.G240	ENST00000376406.3	37	c.720	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	A	0.113	-1.135124	0.01742	.	.	ENSG00000137337	ENST00000452213	.	.	.	5.31	-1.4	0.08968	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	4	.	.	.	0.1094	9.5889	0.39534	0.4177:0.0:0.5823:0.0	.	.	.	.	G	240	.	.	C	-	1	0	MDC1	30788978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.161000	0.10026	-0.113000	0.11958	0.533000	0.62120	TGC	MDC1	-	NULL	ENSG00000137337		0.498	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	197	0.00	0	A	NM_014641		30680999	30680999	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	silent	146	12.94	22	SNP	0.000	C
MDN1	23195	genome.wustl.edu	37	6	90504309	90504309	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:90504309T>G	ENST00000369393.3	-	3	656	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	MDN1_ENST00000428876.1_Missense_Mutation_p.T181P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	181					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CGAACCAAGGTGTCATGGCTT	0.532																																						dbGAP											0													112.0	93.0	99.0					6																	90504309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.541A>C	6.37:g.90504309T>G	ENSP00000358400:p.Thr181Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.T181P	ENST00000369393.3	37	c.541	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239435	0.22711	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.26518	1.73;1.73;1.73	5.23	4.08	0.47627	.	0.297307	0.32785	N	0.005654	T	0.09423	0.0232	L	0.36672	1.1	0.26212	N	0.979285	D;B	0.56035	0.974;0.167	P;B	0.47470	0.548;0.07	T	0.09530	-1.0670	10	0.22706	T	0.39	.	6.6504	0.22959	0.0:0.0796:0.1543:0.7661	.	181;181	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	P	181	ENSP00000358400:T181P;ENSP00000413970:T181P;ENSP00000409664:T181P	ENSP00000358400:T181P	T	-	1	0	MDN1	90561030	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.973000	0.49264	0.954000	0.37851	0.455000	0.32223	ACC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	106	0.00	0	T			90504309	90504309	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	1.000	G
ME2	4200	genome.wustl.edu	37	18	48473745	48473745	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:48473745A>C	ENST00000321341.5	+	0	2218				ME2_ENST00000382927.3_3'UTR|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial						malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GCCCACCAGCACCCTACAGTC	0.428																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.*191A>C	18.37:g.48473745A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	RNA	SNP	-	NULL	ENST00000321341.5	37	NULL	CCDS11948.1	18																																																																																			ME2	-	-	ENSG00000082212		0.428	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	31	0.00	0	A	NM_002396		48473745	48473745	+1	no_errors	ENST00000585680	ensembl	human	known	69_37n	rna	22	21.43	6	SNP	0.007	C
MED12	9968	genome.wustl.edu	37	X	70345253	70345253	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:70345253T>G	ENST00000374080.3	+	16	2311	c.2279T>G	c.(2278-2280)gTg>gGg	p.V760G	MED12_ENST00000333646.6_Missense_Mutation_p.V760G|MED12_ENST00000374102.1_Missense_Mutation_p.V760G			Q93074	MED12_HUMAN	mediator complex subunit 12	760					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGTTTGGGGTGGGAAAGCAG	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													60.0	62.0	61.0					X																	70345253		2186	4260	6446	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2279T>G	X.37:g.70345253T>G	ENSP00000363193:p.Val760Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.V760G	ENST00000374080.3	37	c.2279	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658286	0.67586	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.986;0.992;0.999;0.976	D;P;D;P	0.80764	0.917;0.883;0.994;0.866	T	0.79531	-0.1765	10	0.87932	D	0	-14.1425	13.743	0.62860	0.0:0.0:0.0:1.0	.	760;607;760;760	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	G	760;760;760;760;728	ENSP00000333125:V760G;ENSP00000363215:V760G;ENSP00000363193:V760G;ENSP00000414203:V728G	ENSP00000333125:V760G	V	+	2	0	MED12	70261978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.566000	0.67372	1.818000	0.53035	0.430000	0.28490	GTG	MED12	-	NULL	ENSG00000184634		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	116	0.85	1	T	NM_005120		70345253	70345253	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	100	21.26	27	SNP	1.000	G
MED13	9969	genome.wustl.edu	37	17	60088225	60088225	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:60088225T>G	ENST00000397786.2	-	9	1729	c.1653A>C	c.(1651-1653)acA>acC	p.T551T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	551					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTTGAAGGTGTTTTAGTCA	0.453																																						dbGAP											0													176.0	160.0	165.0					17																	60088225		1941	4139	6080	-	-	-	SO:0001819	synonymous_variant	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1653A>C	17.37:g.60088225T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	NULL	p.T211P	ENST00000397786.2	37	c.631	CCDS42366.1	17																																																																																			MED13	-	NULL	ENSG00000108510		0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	136	0.00	0	T	NM_005121		60088225	60088225	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000583958	ensembl	human	putative	69_37n	missense	144	10.49	17	SNP	0.998	G
MED13L	23389	genome.wustl.edu	37	12	116403979	116403979	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:116403979A>C	ENST00000281928.3	-	29	6501	c.6295T>G	c.(6295-6297)Tat>Gat	p.Y2099D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2099						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GATACAAAATACCCAAGGGCC	0.478																																						dbGAP											0													110.0	115.0	113.0					12																	116403979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6295T>G	12.37:g.116403979A>C	ENSP00000281928:p.Tyr2099Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Y2099D	ENST00000281928.3	37	c.6295	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814554	0.90790	.	.	ENSG00000123066	ENST00000281928	D	0.90955	-2.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96234	0.9170	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2099	Q71F56	MD13L_HUMAN	D	2099	ENSP00000281928:Y2099D	ENSP00000281928:Y2099D	Y	-	1	0	MED13L	114888362	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TAT	MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	259	0.76	2	A			116403979	116403979	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	126	25.88	44	SNP	1.000	C
MED17	9440	genome.wustl.edu	37	11	93527179	93527179	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:93527179A>C	ENST00000251871.3	+	5	1124	c.837A>C	c.(835-837)cgA>cgC	p.R279R	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	279					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTTCAAACGACCTTTGCCCA	0.328																																						dbGAP											0													113.0	114.0	113.0					11																	93527179		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.837A>C	11.37:g.93527179A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Silent	SNP	pfam_Mediator_Med17	p.R279	ENST00000251871.3	37	c.837	CCDS8295.1	11																																																																																			MED17	-	pfam_Mediator_Med17	ENSG00000042429		0.328	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	106	0.00	0	A	NM_004268		93527179	93527179	+1	no_errors	ENST00000251871	ensembl	human	known	69_37n	silent	96	13.39	15	SNP	0.754	C
MED23	9439	genome.wustl.edu	37	6	131948548	131948548	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:131948548A>C	ENST00000368068.3	-	3	326	c.147T>G	c.(145-147)ggT>ggG	p.G49G	MED23_ENST00000368053.4_Silent_p.G49G|MED23_ENST00000539158.1_Silent_p.G49G|ENPP3_ENST00000414305.1_5'Flank|MED23_ENST00000368060.3_Silent_p.G49G|MED23_ENST00000368058.1_Silent_p.G49G|MED23_ENST00000354577.4_Silent_p.G49G|MED23_ENST00000540546.1_Silent_p.G49G|MED23_ENST00000403834.3_Silent_p.G49G	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	49					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)		GAGAAAGACCACCCCAAAACT	0.318																																						dbGAP											0													81.0	93.0	89.0					6																	131948548		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.147T>G	6.37:g.131948548A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.G49	ENST00000368068.3	37	c.147	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.318	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	298	1.00	3	A			131948548	131948548	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	silent	205	13.87	33	SNP	0.998	C
MED8	112950	genome.wustl.edu	37	1	43852650	43852650	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:43852650A>C	ENST00000372457.4	-	4	333	c.290T>G	c.(289-291)gTg>gGg	p.V97G	MED8_ENST00000290663.6_Missense_Mutation_p.V97G|RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000562955.1_5'Flank|SZT2_ENST00000310739.4_5'Flank|SZT2_ENST00000372450.4_5'Flank|MED8_ENST00000372455.4_Missense_Mutation_p.V8G	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	97					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAAACAGGCACCCGTCCTTC	0.507																																						dbGAP											0													180.0	160.0	167.0					1																	43852650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.290T>G	1.37:g.43852650A>C	ENSP00000361535:p.Val97Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	pfam_Mediatior_Med8_fun/met	p.V97G	ENST00000372457.4	37	c.290	CCDS487.2	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220172	0.79464	.	.	ENSG00000159479	ENST00000290663;ENST00000372457;ENST00000372455	.	.	.	5.83	5.83	0.93111	.	0.053753	0.64402	D	0.000001	T	0.79718	0.4494	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.67548	0.952;0.952	T	0.82709	-0.0323	9	0.87932	D	0	-5.6074	16.2009	0.82078	1.0:0.0:0.0:0.0	.	97;97	Q96G25;Q96G25-2	MED8_HUMAN;.	G	97;97;8	.	ENSP00000290663:V97G	V	-	2	0	MED8	43625237	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	9.240000	0.95396	2.235000	0.73313	0.533000	0.62120	GTG	MED8	-	pfam_Mediatior_Med8_fun/met	ENSG00000159479		0.507	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED8	HGNC	protein_coding	OTTHUMT00000318959.1	280	0.71	2	A	NM_052877		43852650	43852650	-1	no_errors	ENST00000290663	ensembl	human	known	69_37n	missense	180	11.65	24	SNP	0.999	C
MEGF8	1954	genome.wustl.edu	37	19	42837885	42837885	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:42837885A>C	ENST00000251268.6	+	2	316	c.316A>C	c.(316-318)Acc>Ccc	p.T106P	MEGF8_ENST00000334370.4_Missense_Mutation_p.T106P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	106	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AAGTGGGAGCACCCGACCTCC	0.582																																						dbGAP											0													57.0	62.0	60.0					19																	42837885		2086	4206	6292	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.316A>C	19.37:g.42837885A>C	ENSP00000251268:p.Thr106Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.T106P	ENST00000251268.6	37	c.316		19	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879131	0.72294	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.18338	2.22;2.22	5.33	5.33	0.75918	.	.	.	.	.	T	0.44456	0.1294	M	0.84773	2.715	0.80722	D	1	D	0.64830	0.994	D	0.69654	0.965	T	0.47129	-0.9141	9	0.51188	T	0.08	-12.668	13.2235	0.59903	1.0:0.0:0.0:0.0	.	106	Q7Z7M0-2	.	P	106	ENSP00000334219:T106P;ENSP00000251268:T106P	ENSP00000251268:T106P	T	+	1	0	MEGF8	47529725	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	6.191000	0.72063	2.017000	0.59298	0.398000	0.26397	ACC	MEGF8	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000105429		0.582	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	113	0.86	1	A	NM_001410		42837885	42837885	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	83	18.45	19	SNP	1.000	C
MEI1	150365	genome.wustl.edu	37	22	42177506	42177506	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42177506T>G	ENST00000476893.1	+	0	104				MEI1_ENST00000540880.1_Intron|MEI1_ENST00000401548.3_Intron|MEI1_ENST00000400107.1_Intron|MEI1_ENST00000300398.4_Intron					meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						gtgtggctggtggtcataagg	0.488																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000476893.1:c.*101T>G	22.37:g.42177506T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000476893.1	37	NULL		22																																																																																			MEI1	-	-	ENSG00000167077		0.488	MEI1-011	KNOWN	basic	processed_transcript	MEI1	HGNC	protein_coding	OTTHUMT00000321898.1	18	0.00	0	T	NM_152513		42177506	42177506	+1	no_errors	ENST00000476893	ensembl	human	known	69_37n	rna	16	23.81	5	SNP	0.000	G
MEIS2	4212	genome.wustl.edu	37	15	37184468	37184468	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:37184468T>G	ENST00000561208.1	-	12	1758	c.1340A>C	c.(1339-1341)cAc>cCc	p.H447P	MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.H440P|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.H440P|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	447	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CATTCCAGGGTGGGTAGGGGG	0.498																																						dbGAP											0													232.0	243.0	239.0					15																	37184468		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1340A>C	15.37:g.37184468T>G	ENSP00000453793:p.His447Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H447P	ENST00000561208.1	37	c.1340	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	T	9.552	1.116266	0.20795	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.88201	-2.35;-2.35	5.2	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.61218	1.895	0.80722	D	1	P;P;P;D	0.69078	0.787;0.536;0.952;0.997	B;B;P;D	0.63703	0.348;0.189;0.556;0.917	D	0.89871	0.4023	10	0.66056	D	0.02	-15.0043	6.338	0.21306	0.1398:0.0745:0.0:0.7856	.	440;447;427;143	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	P	447;440;440	ENSP00000341400:H440P;ENSP00000372216:H440P	ENSP00000326296:H447P	H	-	2	0	MEIS2	34971760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	0.976000	0.38417	0.533000	0.62120	CAC	MEIS2	-	NULL	ENSG00000134138		0.498	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	299	0.33	1	T	NM_170677		37184468	37184468	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	missense	232	13.65	37	SNP	1.000	G
MEPE	56955	genome.wustl.edu	37	4	88767250	88767250	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:88767250T>G	ENST00000424957.3	+	4	1303	c.1230T>G	c.(1228-1230)ggT>ggG	p.G410G	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Silent_p.G297G|MEPE_ENST00000361056.3_Silent_p.G410G|MEPE_ENST00000540395.1_Silent_p.G297G|MEPE_ENST00000395102.4_Silent_p.G441G|MEPE_ENST00000497649.2_Silent_p.G386G	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	410					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCAGAAAGGGTGTAGATCATT	0.413																																						dbGAP											0													84.0	80.0	81.0					4																	88767250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1230T>G	4.37:g.88767250T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	pfam_Osteoregulin	p.G410	ENST00000424957.3	37	c.1230	CCDS3625.1	4																																																																																			MEPE	-	NULL	ENSG00000152595		0.413	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	107	0.00	0	T			88767250	88767250	+1	no_errors	ENST00000361056	ensembl	human	known	69_37n	silent	119	13.67	19	SNP	0.000	G
MESDC2	23184	genome.wustl.edu	37	15	81271727	81271727	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:81271727A>C	ENST00000261758.4	-	3	624	c.538T>G	c.(538-540)Tgt>Ggt	p.C180G	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	180	Escort domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						ACATCAGCACACCTGTCTTGA	0.498																																						dbGAP											0													83.0	78.0	80.0					15																	81271727		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.538T>G	15.37:g.81271727A>C	ENSP00000261758:p.Cys180Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	pfam_Mesoderm_development_cand-2	p.C180G	ENST00000261758.4	37	c.538	CCDS32308.1	15	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838362	0.91117	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81887	-0.0726	9	0.87932	D	0	-7.7699	16.1213	0.81359	1.0:0.0:0.0:0.0	.	180	Q14696	MESD_HUMAN	G	180	.	ENSP00000261758:C180G	C	-	1	0	MESDC2	79058782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.927000	0.92846	2.209000	0.71365	0.529000	0.55759	TGT	MESDC2	-	pfam_Mesoderm_development_cand-2	ENSG00000117899		0.498	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC2	HGNC	protein_coding	OTTHUMT00000417673.2	138	0.00	0	A	NM_015154		81271727	81271727	-1	no_errors	ENST00000261758	ensembl	human	known	69_37n	missense	128	13.42	20	SNP	1.000	C
MET	4233	genome.wustl.edu	37	7	116380977	116380977	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:116380977A>C	ENST00000318493.6	+	5	1786	c.1599A>C	c.(1597-1599)ccA>ccC	p.P533P	MET_ENST00000397752.3_Silent_p.P533P|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Silent_p.P533P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTCTGCCCCACCCTTTGTTC	0.532			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													117.0	118.0	118.0					7																	116380977		1948	4138	6086	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1599A>C	7.37:g.116380977A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.P533	ENST00000318493.6	37	c.1599	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000105976		0.532	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	271	0.72	2	A			116380977	116380977	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	silent	223	18.61	51	SNP	0.092	C
METTL21B	25895	genome.wustl.edu	37	12	58166858	58166858	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:58166858T>G	ENST00000300209.8	+	2	361	c.236T>G	c.(235-237)gTg>gGg	p.V79G	METTL21B_ENST00000551420.1_5'UTR|AC025165.1_ENST00000582738.1_RNA|METTL21B_ENST00000552307.1_Splice_Site|METTL1_ENST00000324871.7_5'Flank|METTL1_ENST00000257848.7_5'Flank|METTL1_ENST00000548681.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Silent_p.G16G|METTL21B_ENST00000548256.1_Missense_Mutation_p.V37G|RP11-571M6.15_ENST00000553083.1_3'UTR|METTL21B_ENST00000333012.5_Missense_Mutation_p.V79G	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	79						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GGCAAGAAGGTGATCGAACTG	0.567																																						dbGAP											0													149.0	152.0	151.0					12																	58166858		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.236T>G	12.37:g.58166858T>G	ENSP00000300209:p.Val79Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H749|Q9Y3W2	Splice_Site	SNP	-	NULL	ENST00000300209.8	37	c.NULL	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587456	0.86851	.	.	ENSG00000123427;ENSG00000123427;ENSG00000123427;ENSG00000257921	ENST00000548256;ENST00000300209;ENST00000333012;ENST00000546504	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.27	5.27	0.74061	.	0.083207	0.47455	D	0.000228	D	0.82623	0.5077	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.99;0.995	D	0.86392	0.1736	10	0.62326	D	0.03	.	14.4439	0.67338	0.0:0.0:0.0:1.0	.	79;79	Q96AZ1;Q96AZ1-2	MT21B_HUMAN;.	G	37;79;79;8	ENSP00000447718:V37G;ENSP00000300209:V79G;ENSP00000327425:V79G;ENSP00000449544:V8G	ENSP00000300209:V79G	V	+	2	0	METTL21B;RP11-571M6.15	56453125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.897000	0.75671	2.124000	0.65301	0.454000	0.30748	GTG	METTL21B	-	-	ENSG00000123427		0.567	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	HGNC	protein_coding	OTTHUMT00000409268.1	114	0.00	0	T	NM_015433		58166858	58166858	+1	no_errors	ENST00000552307	ensembl	human	known	69_37n	splice_site	69	20.69	18	SNP	1.000	G
MFAP3	4238	genome.wustl.edu	37	5	153432988	153432988	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:153432988T>G	ENST00000436816.1	+	3	1023	c.804T>G	c.(802-804)ggT>ggG	p.G268G	MFAP3_ENST00000322602.5_Silent_p.G268G|MFAP3_ENST00000439768.2_Silent_p.G122G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	268					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGACCTGGGTGAAAGAATTA	0.483																																						dbGAP											0													94.0	91.0	92.0					5																	153432988		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.804T>G	5.37:g.153432988T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G268	ENST00000436816.1	37	c.804	CCDS4324.1	5																																																																																			MFAP3	-	NULL	ENSG00000037749		0.483	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	153	0.00	0	T	NM_005927		153432988	153432988	+1	no_errors	ENST00000322602	ensembl	human	known	69_37n	silent	118	15.11	21	SNP	0.787	G
MFSD2A	84879	genome.wustl.edu	37	1	40424374	40424374	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:40424374T>G	ENST00000372809.5	+	3	412	c.269T>G	c.(268-270)gTg>gGg	p.V90G	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Splice_Site_p.V77G	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	90					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCATTCCAGGTGGGCCCTTTC	0.577																																						dbGAP											0													210.0	193.0	199.0					1																	40424374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.269T>G	1.37:g.40424374T>G	ENSP00000361895:p.Val90Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V90G	ENST00000372809.5	37	c.269	CCDS44118.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107035	0.77096	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.88431	-2.38;-2.38;-1.51	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);	0.178194	0.49916	D	0.000134	D	0.92054	0.7482	L	0.55481	1.735	0.80722	D	1	D;D;P	0.56968	0.978;0.961;0.897	P;P;P	0.60886	0.88;0.864;0.786	D	0.92828	0.6278	10	0.87932	D	0	-19.5948	15.2511	0.73545	0.0:0.0:0.0:1.0	.	40;90;77	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	G	77;75;90	ENSP00000361898:V77G;ENSP00000407606:V75G;ENSP00000361895:V90G	ENSP00000361895:V90G	V	+	2	0	MFSD2A	40196961	1.000000	0.71417	0.967000	0.41034	0.708000	0.40852	7.594000	0.82698	2.200000	0.70718	0.459000	0.35465	GTG	MFSD2A	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000168389		0.577	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	HGNC	protein_coding	OTTHUMT00000025756.1	329	0.00	0	T	NM_032793		40424374	40424374	+1	no_errors	ENST00000372809	ensembl	human	known	69_37n	missense	272	11.07	34	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	41961516	41961516	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:41961516T>G	ENST00000570161.1	+	1	424	c.424T>G	c.(424-426)Tgg>Ggg	p.W142G	MGA_ENST00000566586.1_Missense_Mutation_p.W142G|MGA_ENST00000545763.1_Missense_Mutation_p.W142G|MGA_ENST00000389936.4_Missense_Mutation_p.W142G|MGA_ENST00000219905.7_Missense_Mutation_p.W142G|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTCGTTGGTGGGAACCTAG	0.408																																						dbGAP											0													288.0	285.0	286.0					15																	41961516		1880	4096	5976	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.424T>G	15.37:g.41961516T>G	ENSP00000457035:p.Trp142Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.W142G	ENST00000570161.1	37	c.424	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690151	0.68271	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.98296	-4.85;-4.85;-4.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99327	1.0908	10	0.87932	D	0	.	15.9355	0.79704	0.0:0.0:0.0:1.0	.	142;142	F5H7K2;E7ENI0	.;.	G	142	ENSP00000219905:W142G;ENSP00000374586:W142G;ENSP00000442467:W142G	ENSP00000219905:W142G	W	+	1	0	MGA	39748808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.234000	0.73211	0.533000	0.62120	TGG	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000174197		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	527	0.00	0	T	NM_001164273.1		41961516	41961516	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	411	10.24	47	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	41961559	41961559	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:41961559T>G	ENST00000570161.1	+	1	467	c.467T>G	c.(466-468)gTt>gGt	p.V156G	MGA_ENST00000566586.1_Missense_Mutation_p.V156G|MGA_ENST00000545763.1_Missense_Mutation_p.V156G|MGA_ENST00000389936.4_Missense_Mutation_p.V156G|MGA_ENST00000219905.7_Missense_Mutation_p.V156G|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGGGAGGGTTTTCATTCAT	0.423																																						dbGAP											0													279.0	277.0	278.0					15																	41961559		1897	4101	5998	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.467T>G	15.37:g.41961559T>G	ENSP00000457035:p.Val156Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.V156G	ENST00000570161.1	37	c.467	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409223	0.62399	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.88741	-2.42;-2.42;-2.42	5.76	5.76	0.90799	.	0.229025	0.44902	D	0.000418	D	0.94324	0.8176	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.81914	0.953;0.995	D	0.94877	0.8035	10	0.87932	D	0	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	156;156	F5H7K2;E7ENI0	.;.	G	156	ENSP00000219905:V156G;ENSP00000374586:V156G;ENSP00000442467:V156G	ENSP00000219905:V156G	V	+	2	0	MGA	39748851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.026000	0.57232	2.324000	0.78689	0.533000	0.62120	GTT	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000174197		0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	502	0.99	5	T	NM_001164273.1		41961559	41961559	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	417	11.84	56	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	42035244	42035244	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:42035244A>C	ENST00000570161.1	+	14	5086	c.5086A>C	c.(5086-5088)Acc>Ccc	p.T1696P	MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.T1696P|MGA_ENST00000219905.7_Missense_Mutation_p.T1696P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGCTTCCACCTCCTTAGT	0.478																																						dbGAP											0													131.0	124.0	126.0					15																	42035244		2037	4211	6248	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5086A>C	15.37:g.42035244A>C	ENSP00000457035:p.Thr1696Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.T1696P	ENST00000570161.1	37	c.5086	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	10.93	1.491291	0.26774	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.86230	-2.07;-2.09	4.9	4.9	0.64082	.	0.435452	0.20484	N	0.091430	T	0.73992	0.3658	N	0.14661	0.345	0.80722	D	1	B;B	0.20780	0.027;0.048	B;B	0.22152	0.012;0.038	T	0.67329	-0.5698	10	0.21540	T	0.41	.	7.2537	0.26164	0.7077:0.1578:0.0:0.1345	.	312;1696	B4DVS1;E7ENI0	.;.	P	1696	ENSP00000219905:T1696P;ENSP00000374586:T1696P	ENSP00000219905:T1696P	T	+	1	0	MGA	39822536	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.971000	0.40530	2.056000	0.61249	0.460000	0.39030	ACC	MGA	-	NULL	ENSG00000174197		0.478	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	91	0.00	0	A	NM_001164273.1		42035244	42035244	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	C
MGAM	8972	genome.wustl.edu	37	7	141708489	141708489	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141708489A>C	ENST00000549489.2	+	3	406	c.311A>C	c.(310-312)gAc>gCc	p.D104A	MGAM_ENST00000475668.2_Missense_Mutation_p.D104A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	104	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCATCCCTGACCAGCCGCCA	0.383																																						dbGAP											0													66.0	66.0	66.0					7																	141708489		1864	4101	5965	-	-	-	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.311A>C	7.37:g.141708489A>C	ENSP00000447378:p.Asp104Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D104A	ENST00000549489.2	37	c.311	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533202	0.64972	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;T;T	0.54675	0.56;0.56;0.56	4.33	4.33	0.51752	P-type trefoil, conserved site (1);P-type trefoil (4);	0.139682	0.33144	N	0.005236	T	0.54013	0.1832	M	0.87682	2.9	0.35705	D	0.815921	B	0.32338	0.365	B	0.24848	0.056	T	0.68746	-0.5327	10	0.62326	D	0.03	.	10.1771	0.42946	1.0:0.0:0.0:0.0	.	104	O43451	MGA_HUMAN	A	104	ENSP00000419372:D104A;ENSP00000447378:D104A;ENSP00000417103:D104A	ENSP00000373973:D104A	D	+	2	0	MGAM	141354958	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.826000	0.55738	2.186000	0.69663	0.533000	0.62120	GAC	MGAM	-	pfam_P_trefoil,smart_P_trefoil	ENSG00000257335		0.383	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	157	0.00	0	A			141708489	141708489	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	100	21.26	27	SNP	1.000	C
MGAT5B	146664	genome.wustl.edu	37	17	74943931	74943931	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:74943931A>C	ENST00000569840.2	+	17	2517	c.1943A>C	c.(1942-1944)gAc>gCc	p.D648A	RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D646A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.D657A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	648					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGCTCCAGACCCTGCCCTA	0.667																																						dbGAP											0													41.0	39.0	40.0					17																	74943931		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1943A>C	17.37:g.74943931A>C	ENSP00000456037:p.Asp648Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.D657A	ENST00000569840.2	37	c.1970	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	2.263	-0.368822	0.05069	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.41065	1.01;1.01	4.66	2.36	0.29203	.	0.765819	0.11803	N	0.527956	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28106	-1.0054	10	0.08837	T	0.75	-13.8079	2.469	0.04560	0.1947:0.1577:0.5052:0.1425	.	53;657;646	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	A	646;657	ENSP00000301618:D646A;ENSP00000391227:D657A	ENSP00000301618:D646A	D	+	2	0	MGAT5B	72455526	0.002000	0.14202	0.231000	0.23993	0.027000	0.11550	0.737000	0.26144	0.961000	0.38030	-0.226000	0.12346	GAC	MGAT5B	-	NULL	ENSG00000167889		0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	37	0.00	0	A	NM_144677		74943931	74943931	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.105	C
MIB1	57534	genome.wustl.edu	37	18	19371401	19371401	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:19371401T>G	ENST00000261537.6	+	7	1239	c.975T>G	c.(973-975)ggT>ggG	p.G325G	MIB1_ENST00000578646.1_3'UTR|RN7SL233P_ENST00000469988.2_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	325					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGCTCAGGGTGCAGAAGGAG	0.463																																						dbGAP											0													127.0	109.0	115.0					18																	19371401		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.975T>G	18.37:g.19371401T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ	p.G325	ENST00000261537.6	37	c.975	CCDS11871.1	18																																																																																			MIB1	-	NULL	ENSG00000101752		0.463	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	168	0.00	0	T	NM_020774		19371401	19371401	+1	no_errors	ENST00000261537	ensembl	human	known	69_37n	silent	201	15.55	37	SNP	1.000	G
MICALCL	84953	genome.wustl.edu	37	11	12315232	12315232	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:12315232A>C	ENST00000256186.2	+	3	545	c.254A>C	c.(253-255)cAc>cCc	p.H85P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	85	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CTGCCTCATCACCCAAAGCCA	0.582																																						dbGAP											0													126.0	132.0	130.0					11																	12315232		1979	4156	6135	-	-	-	SO:0001583	missense	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.254A>C	11.37:g.12315232A>C	ENSP00000256186:p.His85Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.H85P	ENST00000256186.2	37	c.254	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099952	0.37048	.	.	ENSG00000133808	ENST00000256186	T	0.07567	3.18	5.71	-4.27	0.03744	.	1.882370	0.02705	N	0.112171	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	P	0.35363	0.497	B	0.28553	0.091	T	0.36040	-0.9764	10	0.26408	T	0.33	.	14.6134	0.68531	0.2027:0.0:0.7973:0.0	.	85	Q6ZW33	MICLK_HUMAN	P	85	ENSP00000256186:H85P	ENSP00000256186:H85P	H	+	2	0	MICALCL	12271808	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	0.053000	0.14184	-0.398000	0.07679	-0.290000	0.09829	CAC	MICALCL	-	NULL	ENSG00000133808		0.582	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	294	0.34	1	A	NM_032867		12315232	12315232	+1	no_errors	ENST00000256186	ensembl	human	known	69_37n	missense	360	14.82	63	SNP	0.000	C
MICALCL	84953	genome.wustl.edu	37	11	12316064	12316064	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:12316064A>C	ENST00000256186.2	+	3	1377	c.1086A>C	c.(1084-1086)ccA>ccC	p.P362P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	362					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTAGGTCCCCACCCTGCAGCA	0.532																																						dbGAP											0													99.0	106.0	104.0					11																	12316064		1978	4160	6138	-	-	-	SO:0001819	synonymous_variant	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1086A>C	11.37:g.12316064A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTP7|Q96JU6	Silent	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.P362	ENST00000256186.2	37	c.1086	CCDS41620.1	11																																																																																			MICALCL	-	NULL	ENSG00000133808		0.532	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	233	0.00	0	A	NM_032867		12316064	12316064	+1	no_errors	ENST00000256186	ensembl	human	known	69_37n	silent	352	12.13	49	SNP	0.000	C
GDF5	8200	genome.wustl.edu	37	20	34041796	34041796	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:34041796A>C	ENST00000374372.1	-	1	107				CEP250_ENST00000397524.1_5'Flank|MIR1289-1_ENST00000408836.1_RNA|CEP250_ENST00000342580.4_5'Flank|CEP250_ENST00000397527.1_5'Flank			P43026	GDF5_HUMAN	growth differentiation factor 5						cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			tatcagaatcaccctgggtac	0.463																																						dbGAP											0													125.0	112.0	116.0					20																	34041796		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.396+665T>G	20.37:g.34041796A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q2|Q96SB1	RNA	SNP	-	NULL	ENST00000374372.1	37	NULL	CCDS13254.1	20																																																																																			MIR1289-1	-	-	ENSG00000221763		0.463	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1289-1	HGNC	protein_coding	OTTHUMT00000078875.2	72	0.00	0	A			34041796	34041796	-1	no_errors	ENST00000408836	ensembl	human	known	69_37n	rna	48	22.58	14	SNP	0.000	C
SGCZ	137868	genome.wustl.edu	37	8	14710986	14710986	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:14710986A>C	ENST00000382080.1	-	2	755				MIR383_ENST00000362257.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta						membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTAATATCCACCCAAAGCCA	0.468																																						dbGAP											0													84.0	71.0	75.0					8																	14710986		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.40-298551T>G	8.37:g.14710986A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6REU0	RNA	SNP	-	NULL	ENST00000382080.1	37	NULL	CCDS5992.2	8																																																																																			MIR383	-	-	ENSG00000199127		0.468	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MIR383	HGNC	protein_coding	OTTHUMT00000207636.2	148	0.00	0	A	NM_139167		14710986	14710986	-1	no_errors	ENST00000362257	ensembl	human	known	69_37n	rna	93	17.70	20	SNP	1.000	C
CALCR	799	genome.wustl.edu	37	7	93113319	93113319	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:93113319A>C	ENST00000394441.1	-	2	367				CALCR_ENST00000426151.1_Intron|MIR489_ENST00000384923.1_RNA|CALCR_ENST00000359558.2_Intron|CALCR_ENST00000360249.4_Intron|MIR653_ENST00000385279.1_RNA|CALCR_ENST00000421592.1_Intron	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACATACGACCACCAAGCTGCC	0.438																																						dbGAP											0													109.0	107.0	108.0					7																	93113319		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.51+2923T>G	7.37:g.93113319A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	RNA	SNP	-	NULL	ENST00000394441.1	37	NULL	CCDS5631.1	7																																																																																			MIR489	-	-	ENSG00000207656		0.438	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	MIR489	HGNC	protein_coding	OTTHUMT00000254661.2	176	0.00	0	A	NM_001742		93113319	93113319	-1	no_errors	ENST00000384923	ensembl	human	known	69_37n	rna	110	17.29	23	SNP	1.000	C
UBAC2	337867	genome.wustl.edu	37	13	100008475	100008475	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:100008475A>C	ENST00000403766.3	+	8	942				MIR623_ENST00000384986.1_RNA|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000460562.1_Intron	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2						protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATGTCTTTGCACCTTCTGTCC	0.552																																						dbGAP											0													418.0	367.0	382.0					13																	100008475		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.808-11566A>C	13.37:g.100008475A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	RNA	SNP	-	NULL	ENST00000403766.3	37	NULL	CCDS45064.1	13																																																																																			MIR623	-	-	ENSG00000207719		0.552	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	MIR623	HGNC	protein_coding	OTTHUMT00000045588.1	305	0.00	0	A	NM_177967		100008475	100008475	+1	no_errors	ENST00000384986	ensembl	human	known	69_37n	rna	311	12.53	45	SNP	0.000	C
MIR7-3HG	284424	genome.wustl.edu	37	19	4770609	4770609	+	lincRNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:4770609T>G	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		GAAACTCAGGTGTCATAGCTT	0.587																																						dbGAP											0													246.0	239.0	241.0					19																	4770609		692	1591	2283	-	-	-			0			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4770609T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W630|Q17RJ9|Q8N6C6	RNA	SNP	-	NULL	ENST00000586721.1	37	NULL		19																																																																																			MIR7-3HG	-	-	ENSG00000176840		0.587	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3HG	HGNC	lincRNA	OTTHUMT00000459345.1	110	0.89	1	T	NR_027148		4770609	4770609	+1	no_errors	ENST00000588923	ensembl	human	known	69_37n	rna	101	28.47	41	SNP	0.003	G
MKI67	4288	genome.wustl.edu	37	10	129899721	129899721	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:129899721A>C	ENST00000368654.3	-	14	9881	c.9506T>G	c.(9505-9507)gTg>gGg	p.V3169G	MKI67_ENST00000368653.3_Missense_Mutation_p.V2809G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3169					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCTCTGCCACCTTAGGCTG	0.512																																						dbGAP											0													176.0	160.0	165.0					10																	129899721		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9506T>G	10.37:g.129899721A>C	ENSP00000357643:p.Val3169Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.V3169G	ENST00000368654.3	37	c.9506	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	A	9.392	1.075643	0.20227	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01252	5.14;5.1	2.99	-5.64	0.02466	.	2.889230	0.01307	N	0.010516	T	0.01254	0.0041	N	0.24115	0.695	0.09310	N	1	P;B	0.46512	0.879;0.435	P;B	0.45167	0.472;0.076	T	0.41538	-0.9503	10	0.23891	T	0.37	.	1.0222	0.01520	0.4141:0.1473:0.2809:0.1577	.	2809;3169	P46013-2;P46013	.;KI67_HUMAN	G	3169;2809;3168	ENSP00000357643:V3169G;ENSP00000357642:V2809G	ENSP00000357642:V2809G	V	-	2	0	MKI67	129789711	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.152000	0.10159	-1.264000	0.02452	-0.376000	0.06991	GTG	MKI67	-	NULL	ENSG00000148773		0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	145	0.00	0	A	NM_002417		129899721	129899721	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	148	10.78	18	SNP	0.000	C
MKI67	4288	genome.wustl.edu	37	10	129905185	129905185	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:129905185A>C	ENST00000368654.3	-	13	5294	c.4919T>G	c.(4918-4920)gTg>gGg	p.V1640G	MKI67_ENST00000368653.3_Missense_Mutation_p.V1280G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1640	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCACGCCCACTTTCCCCAG	0.507																																						dbGAP											0													222.0	222.0	222.0					10																	129905185		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4919T>G	10.37:g.129905185A>C	ENSP00000357643:p.Val1640Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.V1640G	ENST00000368654.3	37	c.4919	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	A	11.48	1.651654	0.29336	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03065	4.06;4.06	2.75	1.61	0.23674	.	1.787320	0.03988	N	0.294461	T	0.11707	0.0285	L	0.45581	1.43	0.09310	N	0.999999	D;D;D	0.89917	0.982;1.0;1.0	P;D;D	0.91635	0.599;0.999;0.99	T	0.34153	-0.9840	10	0.21540	T	0.41	.	6.7124	0.23284	0.881:0.0:0.119:0.0	.	1639;1280;1640	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	1640;1280;1639	ENSP00000357643:V1640G;ENSP00000357642:V1280G	ENSP00000357642:V1280G	V	-	2	0	MKI67	129795175	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.678000	0.01942	0.483000	0.27608	0.460000	0.39030	GTG	MKI67	-	pfam_K167R	ENSG00000148773		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	370	0.00	0	A	NM_002417		129905185	129905185	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	609	10.36	71	SNP	0.021	C
MKL2	57496	genome.wustl.edu	37	16	14334207	14334207	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:14334207T>G	ENST00000341243.5	+	8	912	c.912T>G	c.(910-912)ggT>ggG	p.G304G	MKL2_ENST00000571589.1_Silent_p.G315G|MKL2_ENST00000574045.1_Silent_p.G315G|MKL2_ENST00000572567.1_Silent_p.G304G|MKL2_ENST00000573051.1_Silent_p.G264G|MKL2_ENST00000318282.5_Silent_p.G315G			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	304					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCAGAAGGGTGAGAAGAATG	0.493																																						dbGAP											0													96.0	92.0	93.0					16																	14334207		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.912T>G	16.37:g.14334207T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.G304	ENST00000341243.5	37	c.912		16																																																																																			MKL2	-	NULL	ENSG00000186260		0.493	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		264	0.00	0	T	NM_014048		14334207	14334207	+1	no_errors	ENST00000341243	ensembl	human	known	69_37n	silent	235	16.90	48	SNP	0.579	G
MKRN3	7681	genome.wustl.edu	37	15	23811878	23811878	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:23811878G>T	ENST00000314520.3	+	1	1425	c.949G>T	c.(949-951)Gtt>Ttt	p.V317F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	317					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCATGGAGGTTGTCTATGA	0.498																																						dbGAP											0													124.0	103.0	110.0					15																	23811878		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.949G>T	15.37:g.23811878G>T	ENSP00000313881:p.Val317Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.V317F	ENST00000314520.3	37	c.949	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729309	0.69074	.	.	ENSG00000179455	ENST00000314520	D	0.86769	-2.17	4.07	1.18	0.20946	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.198306	0.42682	D	0.000679	D	0.88998	0.6590	L	0.54965	1.715	0.58432	D	0.99999	D	0.63880	0.993	D	0.67900	0.954	D	0.86149	0.1586	10	0.54805	T	0.06	.	7.894	0.29695	0.2856:0.0:0.7144:0.0	.	317	Q13064	MKRN3_HUMAN	F	317	ENSP00000313881:V317F	ENSP00000313881:V317F	V	+	1	0	MKRN3	21362971	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.004000	0.63966	0.287000	0.22375	-0.136000	0.14681	GTT	MKRN3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000179455		0.498	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	52	0.00	0	G	NM_005664		23811878	23811878	+1	no_errors	ENST00000314520	ensembl	human	known	69_37n	missense	61	23.75	19	SNP	1.000	T
MLH3	27030	genome.wustl.edu	37	14	75489583	75489583	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75489583T>G	ENST00000556740.1	-	10	4059	c.4024A>C	c.(4024-4026)Acc>Ccc	p.T1342P	MLH3_ENST00000355774.2_Missense_Mutation_p.T1342P|MLH3_ENST00000238662.7_Missense_Mutation_p.T1318P|MLH3_ENST00000380968.2_Missense_Mutation_p.T280P|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.T1164P|RNU6-689P_ENST00000384197.1_RNA			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1342					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATGCCTCCGGTGGTCTGGAGT	0.468								Mismatch excision repair (MMR)																														dbGAP											0													168.0	158.0	162.0					14																	75489583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4024A>C	14.37:g.75489583T>G	ENSP00000452316:p.Thr1342Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.T1342P	ENST00000556740.1	37	c.4024	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151535	0.78001	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T;T	0.76709	-0.78;-1.03;-1.04;-1.04;-0.78	5.24	5.24	0.73138	MutL, C-terminal, dimerisation (2);	0.048047	0.85682	D	0.000000	D	0.85750	0.5769	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.75484	0.986;0.966	D	0.87273	0.2287	10	0.87932	D	0	-11.0979	13.7391	0.62836	0.0:0.0:0.0:1.0	.	1318;1342	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	P	1342;280;1318;1164;1342	ENSP00000348020:T1342P;ENSP00000370355:T280P;ENSP00000238662:T1318P;ENSP00000451540:T1164P;ENSP00000452316:T1342P	ENSP00000238662:T1318P	T	-	1	0	MLH3	74559336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.035000	0.64158	1.992000	0.58205	0.459000	0.35465	ACC	MLH3	-	pfam_MutL_C,smart_MutL_C	ENSG00000119684		0.468	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	224	0.00	0	T	NM_014381		75489583	75489583	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	221	10.08	25	SNP	1.000	G
KMT2A	4297	genome.wustl.edu	37	11	118343656	118343656	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118343656A>C	ENST00000389506.5	+	3	1782	c.1782A>C	c.(1780-1782)tcA>tcC	p.S594S	KMT2A_ENST00000354520.4_Silent_p.S594S|KMT2A_ENST00000534358.1_Silent_p.S594S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	594					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCTTAGCATCACCATTTTTGC	0.507																																						dbGAP											0													83.0	80.0	81.0					11																	118343656		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1782A>C	11.37:g.118343656A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S594	ENST00000389506.5	37	c.1782	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	131	0.75	1	A	NM_005933		118343656	118343656	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	121	17.45	26	SNP	0.998	C
KMT2A	4297	genome.wustl.edu	37	11	118352528	118352528	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118352528A>C	ENST00000389506.5	+	7	3733	c.3733A>C	c.(3733-3735)Acc>Ccc	p.T1245P	KMT2A_ENST00000354520.4_Missense_Mutation_p.T1245P|KMT2A_ENST00000534358.1_Missense_Mutation_p.T1245P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1245					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCAGAAACCTACCCCATCAGC	0.478																																						dbGAP											0													108.0	98.0	102.0					11																	118352528		2200	4296	6496	-	-	-	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3733A>C	11.37:g.118352528A>C	ENSP00000374157:p.Thr1245Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.T1245P	ENST00000389506.5	37	c.3733	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	6.251	0.414433	0.11870	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313	D;T;D;D	0.82255	-1.58;1.02;-1.59;-1.56	5.67	-4.71	0.03279	.	0.510291	0.21891	N	0.067598	T	0.67107	0.2858	L	0.36672	1.1	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51244	-0.8730	10	0.40728	T	0.16	.	5.5594	0.17135	0.2114:0.2012:0.4884:0.099	.	1245;1245	E9PQG7;Q03164	.;MLL1_HUMAN	P	1245;1278;1245;1245;155	ENSP00000436786:T1245P;ENSP00000432391:T1278P;ENSP00000374157:T1245P;ENSP00000346516:T1245P	ENSP00000346516:T1245P	T	+	1	0	MLL	117857738	0.000000	0.05858	0.160000	0.22671	0.519000	0.34347	-1.433000	0.02428	-0.889000	0.03950	-0.376000	0.06991	ACC	MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	192	0.52	1	A	NM_005933		118352528	118352528	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	missense	153	10.53	18	SNP	0.001	C
KMT2A	4297	genome.wustl.edu	37	11	118372517	118372517	+	Silent	SNP	A	A	C	rs191483551		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118372517A>C	ENST00000389506.5	+	26	6441	c.6441A>C	c.(6439-6441)acA>acC	p.T2147T	KMT2A_ENST00000354520.4_Silent_p.T2109T|KMT2A_ENST00000534358.1_Silent_p.T2150T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2147					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGATTCGAACACCCAGTTATT	0.468																																						dbGAP											0													125.0	124.0	124.0					11																	118372517		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6441A>C	11.37:g.118372517A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.T2147	ENST00000389506.5	37	c.6441	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	254	0.39	1	A	NM_005933		118372517	118372517	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	163	12.83	24	SNP	0.997	C
KMT2A	4297	genome.wustl.edu	37	11	118376092	118376092	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118376092A>C	ENST00000389506.5	+	27	9476	c.9476A>C	c.(9475-9477)cAc>cCc	p.H3159P	KMT2A_ENST00000354520.4_Missense_Mutation_p.H3121P|KMT2A_ENST00000534358.1_Missense_Mutation_p.H3162P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3159					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ATGTCTCATCACCAGCACTTA	0.498																																						dbGAP											0													193.0	180.0	184.0					11																	118376092		2200	4295	6495	-	-	-	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9476A>C	11.37:g.118376092A>C	ENSP00000374157:p.His3159Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.H3159P	ENST00000389506.5	37	c.9476	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343727	0.24339	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81908	-1.55;-1.55;-1.52	5.55	4.43	0.53597	.	0.219310	0.48767	D	0.000174	T	0.68686	0.3028	N	0.11724	0.165	0.53005	D	0.999965	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.62680	-0.6803	10	0.40728	T	0.16	.	11.6205	0.51115	0.9308:0.0:0.0692:0.0	.	3162;3159	E9PQG7;Q03164	.;MLL1_HUMAN	P	3162;3159;3121;2069	ENSP00000436786:H3162P;ENSP00000374157:H3159P;ENSP00000346516:H3121P	ENSP00000346516:H3121P	H	+	2	0	MLL	117881302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.490000	0.66881	1.115000	0.41800	0.482000	0.46254	CAC	MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	258	0.00	0	A	NM_005933		118376092	118376092	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	missense	191	12.79	28	SNP	1.000	C
KMT2A	4297	genome.wustl.edu	37	11	118376138	118376138	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118376138A>C	ENST00000389506.5	+	27	9522	c.9522A>C	c.(9520-9522)ccA>ccC	p.P3174P	KMT2A_ENST00000354520.4_Silent_p.P3136P|KMT2A_ENST00000534358.1_Silent_p.P3177P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3174					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTAGTTTCCCACCAAACATCA	0.493																																						dbGAP											0													163.0	161.0	162.0					11																	118376138		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9522A>C	11.37:g.118376138A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P3174	ENST00000389506.5	37	c.9522	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	257	0.00	0	A	NM_005933		118376138	118376138	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	198	11.95	27	SNP	0.986	C
KMT2D	8085	genome.wustl.edu	37	12	49416407	49416407	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:49416407A>C	ENST00000301067.7	-	51	16303	c.16304T>G	c.(16303-16305)gTg>gGg	p.V5435G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5435	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGGTTGGCCACCTCGTTCCG	0.557																																						dbGAP											0													188.0	191.0	190.0					12																	49416407		2013	4165	6178	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16304T>G	12.37:g.49416407A>C	ENSP00000301067:p.Val5435Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V5435G	ENST00000301067.7	37	c.16304	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167063	0.38217	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.81499	-1.5;-1.5	5.06	5.06	0.68205	SET domain (3);	0.000000	0.34002	N	0.004350	D	0.91040	0.7181	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92843	0.6290	10	0.87932	D	0	.	14.0915	0.64993	1.0:0.0:0.0:0.0	.	5435	O14686	MLL2_HUMAN	G	5435;116	ENSP00000301067:V5435G;ENSP00000435714:V116G	ENSP00000301067:V5435G	V	-	2	0	MLL2	47702674	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.237000	0.95368	2.040000	0.60383	0.482000	0.46254	GTG	MLL2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000167548		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	166	0.60	1	A			49416407	49416407	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	171	16.83	35	SNP	1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49445582	49445582	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:49445582T>G	ENST00000301067.7	-	10	1883	c.1884A>C	c.(1882-1884)ccA>ccC	p.P628P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	628	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCAGGTGGTGGGGACAGGC	0.612																																						dbGAP											0													66.0	69.0	68.0					12																	49445582		2100	4214	6314	-	-	-	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1884A>C	12.37:g.49445582T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P628	ENST00000301067.7	37	c.1884	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	199	0.50	1	T			49445582	49445582	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	silent	139	19.08	33	SNP	0.000	G
KMT2C	58508	genome.wustl.edu	37	7	151860755	151860755	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151860755T>G	ENST00000262189.6	-	43	10125	c.9907A>C	c.(9907-9909)Acc>Ccc	p.T3303P	KMT2C_ENST00000355193.2_Missense_Mutation_p.T3303P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3303	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATGGGAAAGGTGGGTTGGCTC	0.567																																						dbGAP											0													156.0	129.0	138.0					7																	151860755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9907A>C	7.37:g.151860755T>G	ENSP00000262189:p.Thr3303Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T3303P	ENST00000262189.6	37	c.9907	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.014|0.014	-1.579062|-1.579062	0.00879|0.00879	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.82711	.|-1.64;-1.64	5.13|5.13	-0.0188|-0.0188	0.13962|0.13962	.|.	.|1.169090	.|0.06490	.|N	.|0.734364	T|T	0.60547|0.60547	0.2277|0.2277	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.31730	.|0.337;0.018;0.0	.|B;B;B	.|0.17722	.|0.019;0.01;0.001	T|T	0.41270|0.41270	-0.9518|-0.9518	5|10	.|0.10902	.|T	.|0.67	.|.	6.888|6.888	0.24214|0.24214	0.1021:0.2463:0.0:0.6516|0.1021:0.2463:0.0:0.6516	.|.	.|3303;2364;3303	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	P|P	808|3303	.|ENSP00000262189:T3303P;ENSP00000347325:T3303P	.|ENSP00000262189:T3303P	H|T	-|-	2|1	0|0	MLL3|MLL3	151491688|151491688	0.022000|0.022000	0.18835|0.18835	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	0.573000|0.573000	0.23699|0.23699	-0.956000|-0.956000	0.03631|0.03631	-4.638000|-4.638000	0.00004|0.00004	CAC|ACC	MLL3	-	NULL	ENSG00000055609		0.567	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	132	0.75	1	T			151860755	151860755	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	100	21.09	27	SNP	0.000	G
KMT2C	58508	genome.wustl.edu	37	7	151860831	151860831	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151860831T>G	ENST00000262189.6	-	43	10049	c.9831A>C	c.(9829-9831)ccA>ccC	p.P3277P	KMT2C_ENST00000355193.2_Silent_p.P3277P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3277	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCATGGTAGGTGGGGCCATTG	0.507																																						dbGAP											0													187.0	157.0	167.0					7																	151860831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9831A>C	7.37:g.151860831T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_FYrich_C,pfam_SET_dom,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,pfscan_SET_dom	p.T783P	ENST00000262189.6	37	c.2347	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.581883	0.00879	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.02	-5.59	0.02505	.	.	.	.	.	T	0.38427	0.1040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34850	-0.9812	4	.	.	.	.	3.383	0.07261	0.094:0.3541:0.147:0.4049	.	.	.	.	P	783	.	.	T	-	1	0	MLL3	151491764	0.020000	0.18652	0.035000	0.18076	0.036000	0.12997	-1.322000	0.02695	-1.512000	0.01791	-0.290000	0.09829	ACC	MLL3	-	NULL	ENSG00000055609		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	141	0.70	1	T			151860831	151860831	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000360104	ensembl	human	novel	69_37n	missense	119	16.08	23	SNP	0.025	G
KMT2C	58508	genome.wustl.edu	37	7	151879296	151879296	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151879296T>G	ENST00000262189.6	-	36	5867	c.5649A>C	c.(5647-5649)tcA>tcC	p.S1883S	KMT2C_ENST00000355193.2_Silent_p.S1883S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1883	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGACCCAGGTGAAAACACTT	0.537																																						dbGAP											0													84.0	88.0	87.0					7																	151879296		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5649A>C	7.37:g.151879296T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S1883	ENST00000262189.6	37	c.5649	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.537	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	261	0.38	1	T			151879296	151879296	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	silent	196	11.56	26	SNP	0.999	G
KMT2C	58508	genome.wustl.edu	37	7	151879377	151879377	+	Silent	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151879377A>G	ENST00000262189.6	-	36	5786	c.5568T>C	c.(5566-5568)ccT>ccC	p.P1856P	KMT2C_ENST00000355193.2_Silent_p.P1856P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1856	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATGGGGCTGGAGGAGGAGGTG	0.502																																						dbGAP											0													105.0	101.0	102.0					7																	151879377		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5568T>C	7.37:g.151879377A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P1856	ENST00000262189.6	37	c.5568	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	302	0.00	0	A			151879377	151879377	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	silent	242	13.48	38	SNP	0.995	G
KMT2C	58508	genome.wustl.edu	37	7	151879436	151879436	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151879436T>G	ENST00000262189.6	-	36	5727	c.5509A>C	c.(5509-5511)Acc>Ccc	p.T1837P	KMT2C_ENST00000355193.2_Missense_Mutation_p.T1837P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1837	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GACGTAGGGGTACTGGGTGGC	0.488																																						dbGAP											0													191.0	179.0	183.0					7																	151879436		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5509A>C	7.37:g.151879436T>G	ENSP00000262189:p.Thr1837Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T1837P	ENST00000262189.6	37	c.5509	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	6.447	0.450695	0.12223	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85861	-2.02;-2.04	5.41	-0.266	0.12942	.	0.000000	0.46145	D	0.000309	T	0.82185	0.4982	L	0.34521	1.04	0.80722	D	1	B;D	0.63880	0.009;0.993	B;P	0.57776	0.012;0.827	T	0.77509	-0.2561	10	0.45353	T	0.12	.	7.4029	0.26975	0.0:0.2033:0.1191:0.6776	.	1837;898	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	P	1837	ENSP00000262189:T1837P;ENSP00000347325:T1837P	ENSP00000262189:T1837P	T	-	1	0	MLL3	151510369	0.960000	0.32886	0.040000	0.18447	0.016000	0.09150	1.080000	0.30779	0.053000	0.16036	0.460000	0.39030	ACC	MLL3	-	NULL	ENSG00000055609		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	375	0.79	3	T			151879436	151879436	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	309	14.01	51	SNP	0.832	G
KMT2C	58508	genome.wustl.edu	37	7	151879443	151879443	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151879443T>G	ENST00000262189.6	-	36	5720	c.5502A>C	c.(5500-5502)ccA>ccC	p.P1834P	KMT2C_ENST00000355193.2_Silent_p.P1834P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1834	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGTACTGGGTGGCTGTTTTG	0.498																																						dbGAP											0													199.0	188.0	192.0					7																	151879443		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5502A>C	7.37:g.151879443T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P1834	ENST00000262189.6	37	c.5502	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	388	0.26	1	T			151879443	151879443	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	silent	349	10.94	43	SNP	0.011	G
KMT2C	58508	genome.wustl.edu	37	7	151879618	151879618	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151879618A>C	ENST00000262189.6	-	36	5545	c.5327T>G	c.(5326-5328)gTg>gGg	p.V1776G	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1776G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1776	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ctCATTTTTCACCTGTTCAAG	0.403																																						dbGAP											0													73.0	80.0	77.0					7																	151879618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5327T>G	7.37:g.151879618A>C	ENSP00000262189:p.Val1776Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V1776G	ENST00000262189.6	37	c.5327	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117474	0.56505	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.86694	-2.16;-2.16	5.62	5.62	0.85841	.	0.382467	0.18218	N	0.147995	D	0.91429	0.7295	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	D	0.91874	0.5510	10	0.72032	D	0.01	.	15.8178	0.78618	1.0:0.0:0.0:0.0	.	1776;837	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1776	ENSP00000262189:V1776G;ENSP00000347325:V1776G	ENSP00000262189:V1776G	V	-	2	0	MLL3	151510551	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.210000	0.95106	2.143000	0.66587	0.455000	0.32223	GTG	MLL3	-	NULL	ENSG00000055609		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	356	0.00	0	A			151879618	151879618	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	351	10.20	40	SNP	1.000	C
KMT2E	55904	genome.wustl.edu	37	7	104702667	104702667	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:104702667A>C	ENST00000311117.3	+	4	673	c.128A>C	c.(127-129)cAc>cCc	p.H43P	KMT2E_ENST00000334877.4_Missense_Mutation_p.H43P|KMT2E_ENST00000476671.1_Missense_Mutation_p.H43P|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.H43P	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	43					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AGTTATCCCCACCAGTTATAT	0.383																																						dbGAP											0													169.0	159.0	162.0					7																	104702667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.128A>C	7.37:g.104702667A>C	ENSP00000312379:p.His43Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.H43P	ENST00000311117.3	37	c.128	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628120	0.87560	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;T;D	0.94046	-3.03;-2.61;-3.03;1.45;-3.34	5.78	5.78	0.91487	.	0.054910	0.64402	D	0.000001	D	0.95332	0.8485	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.79784	0.993;0.984	D	0.95865	0.8886	10	0.87932	D	0	.	16.0922	0.81098	1.0:0.0:0.0:0.0	.	43;43	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	P	43	ENSP00000312379:H43P;ENSP00000335599:H43P;ENSP00000257745:H43P;ENSP00000420415:H43P;ENSP00000417888:H43P	ENSP00000257745:H43P	H	+	2	0	MLL5	104489903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.203000	0.70933	0.455000	0.32223	CAC	MLL5	-	NULL	ENSG00000005483		0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	305	0.33	1	A			104702667	104702667	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	missense	270	11.76	36	SNP	1.000	C
KMT2C	58508	genome.wustl.edu	37	7	151932929	151932929	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:151932929A>C	ENST00000262189.6	-	16	2960	c.2742T>G	c.(2740-2742)agT>agG	p.S914R	KMT2C_ENST00000355193.2_Missense_Mutation_p.S914R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	914					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTCCGATTCCACTTTTCAGCT	0.478																																						dbGAP											0													71.0	64.0	67.0					7																	151932929		2202	4284	6486	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2742T>G	7.37:g.151932929A>C	ENSP00000262189:p.Ser914Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S914R	ENST00000262189.6	37	c.2742	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.16|14.16	2.451812|2.451812	0.43531|0.43531	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.84516|.	-1.85;-1.86|.	5.0|5.0	5.0|5.0	0.66597|0.66597	AT hook, DNA-binding motif (1);|.	0.133902|.	0.34178|.	N|.	0.004200|.	T|T	0.42743|0.42743	0.1216|0.1216	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	P|.	0.43477|.	0.808|.	B|.	0.39419|.	0.299|.	T|T	0.30031|0.30031	-0.9992|-0.9992	10|5	0.66056|.	D|.	0.02|.	.|.	8.9872|8.9872	0.36001|0.36001	0.9154:0.0:0.0846:0.0|0.9154:0.0:0.0846:0.0	.|.	914|.	Q8NEZ4|.	MLL3_HUMAN|.	R|G	914|70	ENSP00000262189:S914R;ENSP00000347325:S914R|.	ENSP00000262189:S914R|.	S|W	-|-	3|1	2|0	MLL3|MLL3	151563862|151563862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.285000|2.285000	0.43487|0.43487	2.008000|2.008000	0.58898|0.58898	0.477000|0.477000	0.44152|0.44152	AGT|TGG	MLL3	-	NULL	ENSG00000055609		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	476	0.83	4	A			151932929	151932929	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	391	13.66	62	SNP	1.000	C
MLLT4	4301	genome.wustl.edu	37	6	168291664	168291664	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:168291664A>C	ENST00000447894.2	+	8	1132	c.1132A>C	c.(1132-1134)Acc>Ccc	p.T378P	MLLT4_ENST00000392112.1_Missense_Mutation_p.T377P|MLLT4_ENST00000400822.3_Missense_Mutation_p.T377P|MLLT4_ENST00000351017.4_Missense_Mutation_p.T378P|MLLT4_ENST00000392108.3_Missense_Mutation_p.T378P|MLLT4_ENST00000344191.4_Missense_Mutation_p.T378P|MLLT4_ENST00000366806.2_Missense_Mutation_p.T378P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	378					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)		CTATGGCTCCACCCTTCCTCC	0.493			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													91.0	90.0	90.0					6																	168291664		2203	4296	6499	-	-	-	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.1132A>C	6.37:g.168291664A>C	ENSP00000404595:p.Thr378Pro	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.T378P	ENST00000447894.2	37	c.1132		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.716|7.716	0.696247|0.696247	0.15106|0.15106	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|T;T;T;T;T;T;T	.|0.04275	.|3.88;3.76;3.88;3.86;3.66;3.76;3.76	4.58|4.58	-1.89|-1.89	0.07689|0.07689	.|.	.|0.571606	.|0.17371	.|N	.|0.176693	T|T	0.00608|0.00608	0.0020|0.0020	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.25007	.|0.0;0.116;0.0;0.0	.|B;B;B;B	.|0.27608	.|0.001;0.081;0.0;0.0	T|T	0.41893|0.41893	-0.9483|-0.9483	5|10	.|0.37606	.|T	.|0.19	-7.9723|-7.9723	5.5666|5.5666	0.17175|0.17175	0.2773:0.0:0.1851:0.5377|0.2773:0.0:0.1851:0.5377	.|.	.|91;377;378;377	.|Q96C95;P55196-5;P55196-6;P55196-2	.|.;.;.;.	P|P	91|378;378;378;378;377;378;377;378	.|ENSP00000341118:T378P;ENSP00000252692:T378P;ENSP00000375956:T378P;ENSP00000355771:T378P;ENSP00000375960:T377P;ENSP00000383623:T377P;ENSP00000404595:T378P	.|ENSP00000345834:T378P	H|T	+|+	2|1	0|0	MLLT4|MLLT4	168034513|168034513	0.850000|0.850000	0.29656|0.29656	0.000000|0.000000	0.03702|0.03702	0.260000|0.260000	0.26232|0.26232	0.952000|0.952000	0.29149|0.29149	-0.839000|-0.839000	0.04212|0.04212	-0.766000|-0.766000	0.03442|0.03442	CAC|ACC	MLLT4	-	NULL	ENSG00000130396		0.493	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	167	0.00	0	A	NM_005936		168291664	168291664	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	119	21.19	32	SNP	0.312	C
MLLT4	4301	genome.wustl.edu	37	6	168347558	168347558	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:168347558A>C	ENST00000447894.2	+	26	3509	c.3509A>C	c.(3508-3510)cAc>cCc	p.H1170P	MLLT4_ENST00000392112.1_Missense_Mutation_p.H1153P|MLLT4_ENST00000400822.3_Missense_Mutation_p.H1169P|MLLT4_ENST00000351017.4_Missense_Mutation_p.H1177P|MLLT4_ENST00000392108.3_Missense_Mutation_p.H1170P|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Missense_Mutation_p.H1170P|MLLT4_ENST00000366806.2_Missense_Mutation_p.H1170P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1170					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)		AGAGCTGATCACCGTTCCAGC	0.458			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													104.0	104.0	104.0					6																	168347558		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.3509A>C	6.37:g.168347558A>C	ENSP00000404595:p.His1170Pro	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.H1170P	ENST00000447894.2	37	c.3509		6	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036545	0.75617	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04551	3.8;3.69;3.79;3.79;3.6;3.69;3.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.59912	1.85	0.80722	D	1	B;D;P;P	0.71674	0.026;0.998;0.955;0.797	B;D;P;P	0.66196	0.014;0.942;0.549;0.571	T	0.09228	-1.0684	10	0.37606	T	0.19	-6.9822	15.6565	0.77140	1.0:0.0:0.0:0.0	.	1170;1169;1170;1154	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	P	1170;1177;1170;1170;1153;1170;1169;1170	ENSP00000341118:H1170P;ENSP00000252692:H1177P;ENSP00000375956:H1170P;ENSP00000355771:H1170P;ENSP00000375960:H1153P;ENSP00000383623:H1169P;ENSP00000404595:H1170P	ENSP00000345834:H1170P	H	+	2	0	MLLT4	168090407	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.592000	0.90828	2.153000	0.67306	0.533000	0.62120	CAC	MLLT4	-	NULL	ENSG00000130396		0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	251	0.40	1	A	NM_005936		168347558	168347558	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	125	16.56	25	SNP	1.000	C
MLYCD	23417	genome.wustl.edu	37	16	83948880	83948880	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:83948880A>C	ENST00000262430.4	+	5	1287	c.1268A>C	c.(1267-1269)cAc>cCc	p.H423P	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	423	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCCAACTTCCACCTGCAGAAC	0.652																																						dbGAP											0													58.0	64.0	62.0					16																	83948880		2129	4237	6366	-	-	-	SO:0001583	missense	0			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1268A>C	16.37:g.83948880A>C	ENSP00000262430:p.His423Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	pfam_Malonyl_CoA_deC	p.H423P	ENST00000262430.4	37	c.1268	CCDS42206.1	16	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771534	0.69992	.	.	ENSG00000103150	ENST00000262430	D	0.94457	-3.43	4.79	3.68	0.42216	.	0.042996	0.85682	N	0.000000	D	0.97882	0.9304	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97749	1.0213	10	0.87932	D	0	-48.7165	11.1887	0.48673	0.8458:0.1542:0.0:0.0	.	423	O95822	DCMC_HUMAN	P	423	ENSP00000262430:H423P	ENSP00000262430:H423P	H	+	2	0	MLYCD	82506381	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.727000	0.91480	0.780000	0.33566	-0.678000	0.03780	CAC	MLYCD	-	pfam_Malonyl_CoA_deC	ENSG00000103150		0.652	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLYCD	HGNC	protein_coding	OTTHUMT00000433009.1	41	0.00	0	A	NM_012213		83948880	83948880	+1	no_errors	ENST00000262430	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	1.000	C
MMACHC	25974	genome.wustl.edu	37	1	45974866	45974866	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:45974866A>C	ENST00000401061.4	+	4	1108	c.828A>C	c.(826-828)ccA>ccC	p.P276P		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	276					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGTCTCACCACCTGCATCCC	0.562																																						dbGAP											0													67.0	78.0	74.0					1																	45974866		1867	4104	5971	-	-	-	SO:0001819	synonymous_variant	0				CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.828A>C	1.37:g.45974866A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T157|Q9BRQ7	Missense_Mutation	SNP	NULL	p.H21P	ENST00000401061.4	37	c.62	CCDS41324.1	1																																																																																			MMACHC	-	NULL	ENSG00000132763		0.562	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMACHC	HGNC	protein_coding	OTTHUMT00000020864.2	137	0.00	0	A	NM_015506		45974866	45974866	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000474382	ensembl	human	known	69_37n	missense	101	20.93	27	SNP	0.941	C
MMP1	4312	genome.wustl.edu	37	11	102667413	102667413	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:102667413A>C	ENST00000315274.6	-	4	674	c.607T>G	c.(607-609)Tgg>Ggg	p.W203G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	203	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TTGTTGGTCCACCTTTCATCT	0.418																																						dbGAP											0													142.0	122.0	129.0					11																	102667413		2203	4299	6502	-	-	-	SO:0001583	missense	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.607T>G	11.37:g.102667413A>C	ENSP00000322788:p.Trp203Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.W203G	ENST00000315274.6	37	c.607	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	a	19.48	3.836146	0.71373	.	.	ENSG00000196611	ENST00000315274	T	0.40756	1.02	5.87	5.87	0.94306	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000009	T	0.76292	0.3967	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84328	0.0520	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	203	P03956	MMP1_HUMAN	G	203	ENSP00000322788:W203G	ENSP00000322788:W203G	W	-	1	0	MMP1	102172623	1.000000	0.71417	0.954000	0.39281	0.781000	0.44180	8.537000	0.90631	2.371000	0.80710	0.533000	0.62120	TGG	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom	ENSG00000196611		0.418	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	160	0.00	0	A	NM_002421		102667413	102667413	-1	no_errors	ENST00000315274	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	0.998	C
MMP1	4312	genome.wustl.edu	37	11	102668080	102668080	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:102668080A>C	ENST00000315274.6	-	2	324	c.257T>G	c.(256-258)gTg>gGg	p.V86G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	86					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CTGCTTCATCACCTTCAGGGT	0.507																																						dbGAP											0													126.0	114.0	118.0					11																	102668080		2203	4299	6502	-	-	-	SO:0001583	missense	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.257T>G	11.37:g.102668080A>C	ENSP00000322788:p.Val86Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.V86G	ENST00000315274.6	37	c.257	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	a	22.3	4.267509	0.80469	.	.	ENSG00000196611	ENST00000315274	T	0.37411	1.2	5.77	4.65	0.58169	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.709513	0.13464	N	0.385914	T	0.56441	0.1985	M	0.82517	2.595	0.80722	D	1	P	0.35456	0.502	P	0.49140	0.601	T	0.56667	-0.7941	10	0.87932	D	0	.	11.2189	0.48842	0.9274:0.0:0.0725:0.0	.	86	P03956	MMP1_HUMAN	G	86	ENSP00000322788:V86G	ENSP00000322788:V86G	V	-	2	0	MMP1	102173290	0.819000	0.29175	0.670000	0.29842	0.743000	0.42351	3.758000	0.55220	1.130000	0.42092	0.533000	0.62120	GTG	MMP1	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom	ENSG00000196611		0.507	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	180	0.55	1	A	NM_002421		102668080	102668080	-1	no_errors	ENST00000315274	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	0.997	C
MMP2	4313	genome.wustl.edu	37	16	55519641	55519641	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:55519641A>C	ENST00000219070.4	+	5	1293	c.784A>C	c.(784-786)Acc>Ccc	p.T262P	MMP2_ENST00000437642.2_Missense_Mutation_p.T212P|MMP2_ENST00000570308.1_Missense_Mutation_p.T186P|MMP2_ENST00000543485.1_Missense_Mutation_p.T186P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	262	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGCTCCACCACCTACAACTT	0.552																																						dbGAP											0													137.0	121.0	127.0					16																	55519641		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.784A>C	16.37:g.55519641A>C	ENSP00000219070:p.Thr262Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.T262P	ENST00000219070.4	37	c.784	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098322	0.76870	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.58358	0.34;0.34;0.34	5.06	3.92	0.45320	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.096084	0.64402	D	0.000001	T	0.79009	0.4374	H	0.95850	3.73	0.80722	D	1	D;D	0.54047	0.964;0.958	D;P	0.69824	0.966;0.692	D	0.84607	0.0676	10	0.87932	D	0	.	11.4849	0.50348	0.8361:0.0:0.0:0.1639	.	212;262	E9PE45;P08253	.;MMP2_HUMAN	P	262;186;212	ENSP00000219070:T262P;ENSP00000444143:T186P;ENSP00000394237:T212P	ENSP00000219070:T262P	T	+	1	0	MMP2	54077142	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.299000	0.59073	1.913000	0.55393	0.363000	0.22086	ACC	MMP2	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000087245		0.552	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	247	0.40	1	A			55519641	55519641	+1	no_errors	ENST00000219070	ensembl	human	known	69_37n	missense	214	10.04	24	SNP	1.000	C
MMP9	4318	genome.wustl.edu	37	20	44639824	44639824	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:44639824A>C	ENST00000372330.3	+	5	711	c.692A>C	c.(691-693)cAc>cCc	p.H231P	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	231	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCGGCCTGCCACTTCCCCTTC	0.637																																						dbGAP											0													100.0	111.0	107.0					20																	44639824		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.692A>C	20.37:g.44639824A>C	ENSP00000361405:p.His231Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.H231P	ENST00000372330.3	37	c.692	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848007	0.71603	.	.	ENSG00000100985	ENST00000372330	T	0.50548	0.74	4.56	3.46	0.39613	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.094549	0.85682	D	0.000000	T	0.72334	0.3447	M	0.92412	3.305	0.58432	D	0.999996	D	0.69078	0.997	D	0.85130	0.997	T	0.75861	-0.3168	10	0.72032	D	0.01	.	9.5119	0.39082	0.9161:0.0:0.0839:0.0	.	231	P14780	MMP9_HUMAN	P	231	ENSP00000361405:H231P	ENSP00000361405:H231P	H	+	2	0	MMP9	44073231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.875000	0.69660	0.885000	0.36088	-0.256000	0.11100	CAC	MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000100985		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	144	0.00	0	A			44639824	44639824	+1	no_errors	ENST00000372330	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	1.000	C
MOBP	4336	genome.wustl.edu	37	3	39543651	39543651	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:39543651A>C	ENST00000420739.1	+	3	315	c.91A>C	c.(91-93)Acc>Ccc	p.T31P	MOBP_ENST00000441980.2_Missense_Mutation_p.T31P|MOBP_ENST00000428261.1_Missense_Mutation_p.T31P|MOBP_ENST00000396228.1_Missense_Mutation_p.T31P|MOBP_ENST00000383754.3_Missense_Mutation_p.T31P|MOBP_ENST00000354668.4_Missense_Mutation_p.T31P|MOBP_ENST00000311042.6_Missense_Mutation_p.T31P|MOBP_ENST00000447324.1_Missense_Mutation_p.T31P|MOBP_ENST00000415443.1_Missense_Mutation_p.T31P			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	31					intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		CCCGCCGTTCACCTTCCTCAA	0.517																																						dbGAP											0													85.0	84.0	84.0					3																	39543651		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.91A>C	3.37:g.39543651A>C	ENSP00000400491:p.Thr31Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Missense_Mutation	SNP	NULL	p.T31P	ENST00000420739.1	37	c.91		3	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896586	0.52121	.	.	ENSG00000168314	ENST00000451925;ENST00000354668;ENST00000428261;ENST00000420739;ENST00000415443;ENST00000447324;ENST00000383754;ENST00000436143;ENST00000441980;ENST00000311042;ENST00000396228	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.86502	0.5948	.	.	.	0.48762	D	0.999708	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.997	D	0.87631	0.2516	9	0.66056	D	0.02	-26.7083	11.4416	0.50100	1.0:0.0:0.0:0.0	.	31;31;31	Q13875;G5E945;Q13875-3	MOBP_HUMAN;.;.	P	31;31;31;31;31;31;31;42;31;31;31	ENSP00000346695:T31P;ENSP00000401312:T31P;ENSP00000400491:T31P;ENSP00000388148:T31P;ENSP00000409730:T31P;ENSP00000373261:T31P;ENSP00000388827:T31P;ENSP00000312293:T31P;ENSP00000379530:T31P	ENSP00000312293:T31P	T	+	1	0	MOBP	39518655	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.223000	0.89779	2.014000	0.59158	0.533000	0.62120	ACC	MOBP	-	NULL	ENSG00000168314		0.517	MOBP-001	KNOWN	basic	protein_coding	MOBP	HGNC	protein_coding	OTTHUMT00000343711.1	104	0.00	0	A	NM_006501, NM_182934, NM_182935		39543651	39543651	+1	no_errors	ENST00000354668	ensembl	human	known	69_37n	missense	92	13.89	15	SNP	1.000	C
MON1B	22879	genome.wustl.edu	37	16	77228819	77228819	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:77228819A>C	ENST00000248248.3	+	4	1413	c.1063A>C	c.(1063-1065)Acc>Ccc	p.T355P	MON1B_ENST00000545553.1_Missense_Mutation_p.T209P|MON1B_ENST00000439557.2_Missense_Mutation_p.T246P|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	355										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTGCTTGGCACCCAACGTGA	0.632																																						dbGAP											0													82.0	84.0	84.0					16																	77228819		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1063A>C	16.37:g.77228819A>C	ENSP00000248248:p.Thr355Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDZ0|O94949	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.T355P	ENST00000248248.3	37	c.1063	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397438	0.42512	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.8	3.69	0.42338	.	0.048200	0.85682	N	0.000000	T	0.58293	0.2112	L	0.56124	1.755	0.80722	D	1	B;B;B;B	0.28258	0.001;0.205;0.205;0.117	B;B;B;B	0.35312	0.006;0.2;0.2;0.072	T	0.54970	-0.8213	9	0.37606	T	0.19	.	10.3787	0.44099	0.8347:0.1653:0.0:0.0	.	209;246;235;355	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	P	355;246;209	.	ENSP00000248248:T355P	T	+	1	0	MON1B	75786320	1.000000	0.71417	0.938000	0.37757	0.817000	0.46193	6.264000	0.72527	0.920000	0.36970	0.460000	0.39030	ACC	MON1B	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	ENSG00000103111		0.632	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	HGNC	protein_coding	OTTHUMT00000269036.2	93	0.00	0	A	NM_014940		77228819	77228819	+1	no_errors	ENST00000248248	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	1.000	C
MORC1	27136	genome.wustl.edu	37	3	108723681	108723681	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:108723681A>C	ENST00000483760.1	-	19	2048	c.2005T>G	c.(2005-2007)Tgc>Ggc	p.C669G	MORC1_ENST00000232603.5_Missense_Mutation_p.C690G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTTCAGGCACCCTTCAGTT	0.343																																						dbGAP											0													174.0	195.0	188.0					3																	108723681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2005T>G	3.37:g.108723681A>C	ENSP00000417282:p.Cys669Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.C690G	ENST00000483760.1	37	c.2068		3	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.284196	0.01398	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05925	3.37;3.41	3.95	-4.18	0.03846	.	12.977300	0.00166	N	0.000009	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.39375	-0.9617	10	0.23302	T	0.38	16.1191	5.8468	0.18671	0.3637:0.4108:0.2255:0.0	.	669;690	E7ERX1;Q86VD1	.;MORC1_HUMAN	G	690;669	ENSP00000232603:C690G;ENSP00000417282:C669G	ENSP00000232603:C690G	C	-	1	0	MORC1	110206371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.497000	0.06428	-0.970000	0.03569	-2.215000	0.00298	TGC	MORC1	-	NULL	ENSG00000114487		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	715	0.28	2	A			108723681	108723681	-1	no_errors	ENST00000232603	ensembl	human	known	69_37n	missense	501	13.02	75	SNP	0.000	C
MORF4L2	9643	genome.wustl.edu	37	X	102931315	102931315	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:102931315T>G	ENST00000441076.2	-	4	945	c.641A>C	c.(640-642)cAc>cCc	p.H214P	MORF4L2_ENST00000451301.1_Missense_Mutation_p.H214P|MORF4L2_ENST00000360458.1_Missense_Mutation_p.H214P|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000422154.2_Missense_Mutation_p.H214P|MORF4L2_ENST00000433176.2_Missense_Mutation_p.H214P|MORF4L2_ENST00000423833.2_Missense_Mutation_p.H214P	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	214	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						AGCATCAGGGTGAGCCAAGAG	0.448																																						dbGAP											0													73.0	63.0	67.0					X																	102931315		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.641A>C	X.37:g.102931315T>G	ENSP00000391969:p.His214Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	pfam_MRG,superfamily_Chromodomain-like	p.H214P	ENST00000441076.2	37	c.641	CCDS14512.1	X	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545849	0.65198	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833	T;T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95;2.95	4.79	4.79	0.61399	.	0.045714	0.85682	D	0.000000	T	0.28830	0.0715	M	0.85859	2.78	0.80722	D	1	P	0.51240	0.943	P	0.55615	0.78	T	0.03423	-1.1038	10	0.44086	T	0.13	-17.3464	11.5301	0.50604	0.0:0.0:0.0:1.0	.	214	Q15014	MO4L2_HUMAN	P	214;96;214;214;214;196;214;214	ENSP00000353643:H214P;ENSP00000361703:H96P;ENSP00000415476:H214P;ENSP00000394417:H214P;ENSP00000410532:H214P;ENSP00000391969:H214P;ENSP00000416120:H214P	ENSP00000353643:H214P	H	-	2	0	MORF4L2	102817971	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.031000	0.70911	2.088000	0.63022	0.486000	0.48141	CAC	MORF4L2	-	pfam_MRG	ENSG00000123562		0.448	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MORF4L2	HGNC	protein_coding	OTTHUMT00000057732.1	212	0.00	0	T	NM_012286		102931315	102931315	-1	no_errors	ENST00000360458	ensembl	human	known	69_37n	missense	192	10.70	23	SNP	1.000	G
MOV10	4343	genome.wustl.edu	37	1	113241338	113241338	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:113241338T>G	ENST00000413052.2	+	17	2900	c.2510T>G	c.(2509-2511)gTg>gGg	p.V837G	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Splice_Site_p.V837G|MOV10_ENST00000357443.2_Splice_Site_p.V837G|MOV10_ENST00000369644.1_Splice_Site_p.V781G|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	837					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCTTCCAGGTGGAGAAAATC	0.557																																						dbGAP											0													274.0	245.0	255.0					1																	113241338		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2509-1T>G	1.37:g.113241338T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.V837G	ENST00000413052.2	37	c.2510	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424145	0.83667	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	M	0.91612	3.225	0.80722	D	1	P	0.46952	0.887	P	0.58266	0.836	D	0.96368	0.9271	10	0.59425	D	0.04	-14.2173	11.9836	0.53133	0.0:0.0:0.0:1.0	.	837	Q9HCE1	MOV10_HUMAN	G	837;837;781;837;775	ENSP00000399797:V837G;ENSP00000358659:V837G;ENSP00000358658:V781G;ENSP00000350028:V837G	ENSP00000350028:V837G	V	+	2	0	MOV10	113042861	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.440000	0.52886	1.819000	0.53055	0.260000	0.18958	GTG	MOV10	-	NULL	ENSG00000155363		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	328	0.90	3	T	NM_020963	Missense_Mutation	113241338	113241338	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	missense	291	10.91	36	SNP	1.000	G
MPHOSPH8	54737	genome.wustl.edu	37	13	20220998	20220998	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:20220998T>G	ENST00000361479.5	+	3	853	c.785T>G	c.(784-786)gTg>gGg	p.V262G	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.V262G	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	262					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAATCCCAGGTGGAATCTGAA	0.348																																						dbGAP											0													79.0	87.0	85.0					13																	20220998		2202	4295	6497	-	-	-	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.785T>G	13.37:g.20220998T>G	ENSP00000355388:p.Val262Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.V262G	ENST00000361479.5	37	c.785	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	T	4.946	0.175693	0.09391	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.33654	1.4;1.4	6.02	2.11	0.27256	.	1.939670	0.02036	N	0.048902	T	0.29223	0.0727	L	0.29908	0.895	0.09310	N	0.999992	B;B;B	0.26318	0.049;0.137;0.146	B;B;B	0.21917	0.016;0.037;0.024	T	0.17167	-1.0378	10	0.34782	T	0.22	.	7.2904	0.26362	0.0:0.1282:0.1224:0.7494	.	262;262;262	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	G	262	ENSP00000414663:V262G;ENSP00000355388:V262G	ENSP00000355388:V262G	V	+	2	0	MPHOSPH8	19118998	0.947000	0.32204	0.016000	0.15963	0.017000	0.09413	2.612000	0.46343	0.137000	0.18759	-0.256000	0.11100	GTG	MPHOSPH8	-	NULL	ENSG00000196199		0.348	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	189	0.52	1	T	NM_017520		20220998	20220998	+1	no_errors	ENST00000414242	ensembl	human	known	69_37n	missense	225	10.67	27	SNP	0.071	G
MPZ	4359	genome.wustl.edu	37	1	161276671	161276671	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:161276671A>C	ENST00000533357.1	-	3	341	c.275T>G	c.(274-276)gTg>gGg	p.V92G	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.V102G|MPZ_ENST00000336559.4_Missense_Mutation_p.V92G	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	92	Ig-like V-type.		V -> M (in CMT2I; patient carrying also Asn-89 and Met-162). {ECO:0000269|PubMed:11835375}.		cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAGGTCCCCACCTCGTCAAT	0.517																																						dbGAP											0													166.0	142.0	150.0					1																	161276671		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.275T>G	1.37:g.161276671A>C	ENSP00000432943:p.Val92Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.V102G	ENST00000533357.1	37	c.305	CCDS1229.2	1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701349	0.30142	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	T;T;T	0.62639	0.01;0.01;0.01	4.7	4.7	0.59300	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.231069	0.35739	N	0.003008	T	0.27765	0.0683	L	0.40543	1.245	0.35866	D	0.827859	P	0.49307	0.922	B	0.38458	0.274	T	0.11348	-1.0591	9	0.17832	T	0.49	-16.0554	6.9045	0.24301	0.8989:0.0:0.1011:0.0	.	92	P25189	MYP0_HUMAN	G	92;102;92	ENSP00000432943:V92G;ENSP00000353634:V102G;ENSP00000337777:V92G	ENSP00000337777:V92G	V	-	2	0	MPZ	159543295	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.181000	0.50903	1.965000	0.57142	0.460000	0.39030	GTG	MPZ	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	ENSG00000158887		0.517	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZ	HGNC	protein_coding	OTTHUMT00000082987.2	134	0.00	0	A	NM_000530		161276671	161276671	-1	no_errors	ENST00000360451	ensembl	human	known	69_37n	missense	202	12.07	28	SNP	1.000	C
MPZL3	196264	genome.wustl.edu	37	11	118110950	118110950	+	Silent	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:118110950A>G	ENST00000278949.4	-	2	271	c.216T>C	c.(214-216)ccT>ccC	p.P72P	MPZL3_ENST00000527472.1_Silent_p.P60P|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	72	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGCTGCTGGGAGGGCGATATG	0.413																																						dbGAP											0													237.0	185.0	202.0					11																	118110950		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.216T>C	11.37:g.118110950A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K025|B4DLD5|B4E2I8	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.P72	ENST00000278949.4	37	c.216	CCDS8392.1	11																																																																																			MPZL3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000160588		0.413	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL3	HGNC	protein_coding	OTTHUMT00000392109.1	376	0.53	2	A	NM_198275		118110950	118110950	-1	no_errors	ENST00000278949	ensembl	human	known	69_37n	silent	325	10.47	38	SNP	0.728	G
MRAS	22808	genome.wustl.edu	37	3	138091775	138091775	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:138091775T>G	ENST00000289104.4	+	2	697	c.50T>G	c.(49-51)gTg>gGg	p.V17G	MRAS_ENST00000464896.1_Intron|MRAS_ENST00000474559.1_Missense_Mutation_p.V17G|MRAS_ENST00000423968.2_Missense_Mutation_p.V17G	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	17					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACAAGCTGGTGGTGGTGGGG	0.552																																						dbGAP											0													80.0	80.0	80.0					3																	138091775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.50T>G	3.37:g.138091775T>G	ENSP00000289104:p.Val17Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK0|Q86WX8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V17G	ENST00000289104.4	37	c.50	CCDS3100.1	3	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541054	0.65085	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000475711;ENST00000474559	D;D;D	0.82803	-1.65;-1.65;-1.65	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94863	0.8023	10	0.87932	D	0	.	14.0951	0.65016	0.0:0.0:0.0:1.0	.	17	O14807	RASM_HUMAN	G	17	ENSP00000289104:V17G;ENSP00000389682:V17G;ENSP00000418356:V17G	ENSP00000289104:V17G	V	+	2	0	MRAS	139574465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.272000	0.75746	0.459000	0.35465	GTG	MRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000158186		0.552	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	91	0.00	0	T			138091775	138091775	+1	no_errors	ENST00000289104	ensembl	human	known	69_37n	missense	68	20.69	18	SNP	1.000	G
MRO	83876	genome.wustl.edu	37	18	48327790	48327790	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:48327790T>G	ENST00000428869.2	-	7	772	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	MRO_ENST00000256425.2_Missense_Mutation_p.T172P|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.T186P|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Missense_Mutation_p.T172P			Q9BYG7	MSTRO_HUMAN	maestro	172						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ACCTGACTGGTGAAAAATTTT	0.488																																						dbGAP											0													159.0	156.0	157.0					18																	48327790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.514A>C	18.37:g.48327790T>G	ENSP00000409509:p.Thr172Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T186P	ENST00000428869.2	37	c.556	CCDS11947.1	18	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138738	0.37728	.	.	ENSG00000134042	ENST00000436348;ENST00000398439;ENST00000256425	T;T;T	0.65178	-0.14;1.53;1.53	5.68	3.32	0.38043	Armadillo-like helical (1);Armadillo-type fold (1);	0.409511	0.23384	N	0.048778	T	0.61223	0.2330	M	0.80028	2.48	0.32275	N	0.568399	P;P	0.46220	0.744;0.874	B;B	0.42422	0.341;0.387	T	0.66508	-0.5906	10	0.35671	T	0.21	-22.8909	7.2935	0.26380	0.0:0.173:0.0:0.827	.	186;172	E9PAT5;Q9BYG7	.;MSTRO_HUMAN	P	186;172;172	ENSP00000397900:T186P;ENSP00000381465:T172P;ENSP00000256425:T172P	ENSP00000256425:T172P	T	-	1	0	MRO	46581788	0.986000	0.35501	0.702000	0.30337	0.516000	0.34256	0.397000	0.20883	0.446000	0.26666	0.528000	0.53228	ACC	MRO	-	superfamily_ARM-type_fold	ENSG00000134042		0.488	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MRO	HGNC	protein_coding	OTTHUMT00000449478.2	343	0.87	3	T	NM_031939		48327790	48327790	-1	no_errors	ENST00000436348	ensembl	human	known	69_37n	missense	332	10.75	40	SNP	0.960	G
MRPL16	54948	genome.wustl.edu	37	11	59574084	59574084	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:59574084A>C	ENST00000300151.4	-	4	705	c.492T>G	c.(490-492)ggT>ggG	p.G164G		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	164					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CACAACGCCCACCCATCTCTA	0.547																																						dbGAP											0													115.0	111.0	113.0					11																	59574084		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.492T>G	11.37:g.59574084A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BYD0|Q9HB70	Silent	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16	p.G164	ENST00000300151.4	37	c.492	CCDS7976.1	11																																																																																			MRPL16	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16	ENSG00000166902		0.547	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL16	HGNC	protein_coding	OTTHUMT00000394521.1	117	0.84	1	A	NM_017840		59574084	59574084	-1	no_errors	ENST00000300151	ensembl	human	known	69_37n	silent	89	16.04	17	SNP	0.626	C
MRPL24	79590	genome.wustl.edu	37	1	156708187	156708187	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:156708187A>C	ENST00000361531.2	-	3	363	c.227T>G	c.(226-228)gTg>gGg	p.V76G	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.V76G			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	76	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACTTGAACCACTTTGCCCTG	0.567																																						dbGAP											0													256.0	234.0	242.0					1																	156708187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.227T>G	1.37:g.156708187A>C	ENSP00000354525:p.Val76Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24	p.V76G	ENST00000361531.2	37	c.227	CCDS1155.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554200	0.86231	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	5.57	0.84162	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90732	0.4643	9	0.87932	D	0	-22.6241	13.6876	0.62526	1.0:0.0:0.0:0.0	.	76	Q96A35	RM24_HUMAN	G	76	.	ENSP00000354525:V76G	V	-	2	0	MRPL24	154974811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.858000	0.92256	2.128000	0.65567	0.528000	0.53228	GTG	MRPL24	-	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24	ENSG00000143314		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL24	HGNC	protein_coding	OTTHUMT00000098955.1	276	0.36	1	A	NM_145729		156708187	156708187	-1	no_errors	ENST00000361531	ensembl	human	known	69_37n	missense	416	13.46	65	SNP	1.000	C
MS4A6E	245802	genome.wustl.edu	37	11	60105378	60105378	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:60105378A>C	ENST00000300182.4	+	2	377	c.312A>C	c.(310-312)tcA>tcC	p.S104S		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	104						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						ATTATCATTCACCTTACACCA	0.403																																						dbGAP											0													104.0	102.0	103.0					11																	60105378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.312A>C	11.37:g.60105378A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Silent	SNP	pfam_CD20-like	p.S104	ENST00000300182.4	37	c.312	CCDS7984.1	11																																																																																			MS4A6E	-	pfam_CD20-like	ENSG00000166926		0.403	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6E	HGNC	protein_coding	OTTHUMT00000394296.1	136	0.72	1	A			60105378	60105378	+1	no_errors	ENST00000300182	ensembl	human	known	69_37n	silent	69	23.33	21	SNP	0.000	C
MS4A6E	245802	genome.wustl.edu	37	11	60105385	60105385	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:60105385A>C	ENST00000300182.4	+	2	384	c.319A>C	c.(319-321)Acc>Ccc	p.T107P		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	107						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TTCACCTTACACCATGGACTG	0.393																																						dbGAP											0													96.0	95.0	95.0					11																	60105385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.319A>C	11.37:g.60105385A>C	ENSP00000300182:p.Thr107Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	pfam_CD20-like	p.T107P	ENST00000300182.4	37	c.319	CCDS7984.1	11	.	.	.	.	.	.	.	.	.	.	A	8.285	0.816331	0.16607	.	.	ENSG00000166926	ENST00000300182	T	0.02395	4.31	1.89	-3.77	0.04346	.	2.266480	0.02875	U	0.132172	T	0.02727	0.0082	L	0.36672	1.1	0.09310	N	1	B	0.29909	0.261	B	0.32533	0.147	T	0.42189	-0.9466	10	0.30078	T	0.28	.	2.1755	0.03861	0.3652:0.0:0.3961:0.2387	.	107	Q96DS6	M4A6E_HUMAN	P	107	ENSP00000300182:T107P	ENSP00000300182:T107P	T	+	1	0	MS4A6E	59861961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.352000	0.02619	-0.375000	0.07955	0.164000	0.16699	ACC	MS4A6E	-	pfam_CD20-like	ENSG00000166926		0.393	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6E	HGNC	protein_coding	OTTHUMT00000394296.1	142	0.00	0	A			60105385	60105385	+1	no_errors	ENST00000300182	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	0.000	C
MS4A10	341116	genome.wustl.edu	37	11	60557942	60557942	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:60557942A>C	ENST00000308287.1	+	2	230	c.134A>C	c.(133-135)cAc>cCc	p.H45P		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	45						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CTGGCTCCACACCAGCACGAG	0.627																																						dbGAP											0													91.0	85.0	87.0					11																	60557942		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.134A>C	11.37:g.60557942A>C	ENSP00000311862:p.His45Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.H45P	ENST00000308287.1	37	c.134	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	A	4.024	0.002024	0.07819	.	.	ENSG00000172689	ENST00000308287	T	0.23552	1.9	3.3	-6.27	0.02026	.	1.746300	0.03491	N	0.216525	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.23226	-1.0194	10	0.35671	T	0.21	0.0375	6.8895	0.24222	0.5081:0.1223:0.3696:0.0	.	45	Q96PG2	M4A10_HUMAN	P	45	ENSP00000311862:H45P	ENSP00000311862:H45P	H	+	2	0	MS4A10	60314518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.084000	0.11268	-1.432000	0.01979	-1.067000	0.02272	CAC	MS4A10	-	NULL	ENSG00000172689		0.627	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	57	0.00	0	A	NM_206893		60557942	60557942	+1	no_errors	ENST00000308287	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.000	C
MSANTD1	345222	genome.wustl.edu	37	4	3255112	3255112	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:3255112A>C	ENST00000438480.2	+	2	2246	c.499A>C	c.(499-501)Acc>Ccc	p.T167P	MSANTD1_ENST00000507492.1_Missense_Mutation_p.T154P|MSANTD1_ENST00000510580.1_Missense_Mutation_p.T167P	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	167										endometrium(1)|lung(2)	3						CGCTAAGTCCACCCCTCTGTA	0.627																																						dbGAP											0													106.0	104.0	105.0					4																	3255112		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.499A>C	4.37:g.3255112A>C	ENSP00000411584:p.Thr167Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6V0	Missense_Mutation	SNP	NULL	p.T167P	ENST00000438480.2	37	c.499	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442961	0.43326	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	.	.	.	5.58	1.92	0.25849	.	0.467608	0.22734	N	0.056282	T	0.46718	0.1407	L	0.44542	1.39	0.36278	D	0.855617	D;P	0.54397	0.966;0.895	P;B	0.49012	0.598;0.422	T	0.49224	-0.8962	9	0.26408	T	0.33	.	8.4671	0.32962	0.777:0.0:0.223:0.0	.	167;167	D6RD98;Q6ZTZ1	.;CD044_HUMAN	P	154;167;167	.	ENSP00000411584:T167P	T	+	1	0	C4orf44	3224910	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	1.043000	0.30316	0.431000	0.26258	0.529000	0.55759	ACC	MSANTD1	-	NULL	ENSG00000188981		0.627	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1	41	0.00	0	A	NM_001012982		3255112	3255112	+1	no_errors	ENST00000438480	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	C
MSANTD4	84437	genome.wustl.edu	37	11	105880617	105880617	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:105880617A>C	ENST00000301919.4	-	3	2098	c.683T>G	c.(682-684)gTa>gGa	p.V228G	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	228						nucleus (GO:0005634)											TTCCTTTTCTACCTGCAGCCT	0.463																																						dbGAP											0													86.0	84.0	85.0					11																	105880617		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.683T>G	11.37:g.105880617A>C	ENSP00000304713:p.Val228Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.V228G	ENST00000301919.4	37	c.683	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182526	0.38511	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.48	5.48	0.80851	.	0.058895	0.64402	D	0.000003	T	0.45597	0.1350	L	0.29908	0.895	0.80722	D	1	P	0.45986	0.87	B	0.42995	0.404	T	0.45877	-0.9231	9	0.46703	T	0.11	-32.7427	15.8577	0.78994	1.0:0.0:0.0:0.0	.	228	Q8NCY6	K1826_HUMAN	G	228	.	ENSP00000304713:V228G	V	-	2	0	KIAA1826	105385827	1.000000	0.71417	0.960000	0.40013	0.145000	0.21501	8.076000	0.89503	2.207000	0.71202	0.402000	0.26972	GTA	MSANTD4	-	NULL	ENSG00000170903		0.463	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	356	0.28	1	A	NM_032424		105880617	105880617	-1	no_errors	ENST00000301919	ensembl	human	known	69_37n	missense	205	13.50	32	SNP	0.998	C
MSANTD4	84437	genome.wustl.edu	37	11	105881240	105881240	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:105881240A>C	ENST00000301919.4	-	2	1820	c.405T>G	c.(403-405)ggT>ggG	p.G135G	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	135						nucleus (GO:0005634)											TTAAGGATCCACCTGCATCCC	0.413																																						dbGAP											0													135.0	137.0	136.0					11																	105881240		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.405T>G	11.37:g.105881240A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK1|Q96JZ3|Q9H2N4	Silent	SNP	NULL	p.G135	ENST00000301919.4	37	c.405	CCDS31663.1	11																																																																																			MSANTD4	-	NULL	ENSG00000170903		0.413	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	443	0.00	0	A	NM_032424		105881240	105881240	-1	no_errors	ENST00000301919	ensembl	human	known	69_37n	silent	280	11.95	38	SNP	1.000	C
MSANTD4	84437	genome.wustl.edu	37	11	105881439	105881439	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:105881439A>C	ENST00000301919.4	-	2	1621	c.206T>G	c.(205-207)gTg>gGg	p.V69G	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	69	Myb-like.					nucleus (GO:0005634)											CCTTCTTTTCACCTCTGTCCC	0.463																																						dbGAP											0													301.0	269.0	280.0					11																	105881439		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.206T>G	11.37:g.105881439A>C	ENSP00000304713:p.Val69Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.V69G	ENST00000301919.4	37	c.206	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679347	0.68042	.	.	ENSG00000170903	ENST00000301919;ENST00000530788;ENST00000534458;ENST00000530108	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.70204	-0.4936	9	0.72032	D	0.01	-20.8255	16.5205	0.84312	1.0:0.0:0.0:0.0	.	69	Q8NCY6	K1826_HUMAN	G	69	.	ENSP00000304713:V69G	V	-	2	0	KIAA1826	105386649	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	8.199000	0.89731	2.299000	0.77371	0.533000	0.62120	GTG	MSANTD4	-	NULL	ENSG00000170903		0.463	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	583	0.17	1	A	NM_032424		105881439	105881439	-1	no_errors	ENST00000301919	ensembl	human	known	69_37n	missense	346	10.82	42	SNP	1.000	C
MSH6	2956	genome.wustl.edu	37	2	48026682	48026682	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:48026682T>G	ENST00000234420.5	+	4	1712	c.1560T>G	c.(1558-1560)ggT>ggG	p.G520G	MSH6_ENST00000540021.1_Silent_p.G390G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.G218G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	520					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACCAAGGGTACACAGACTT	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											118.0	111.0	113.0					2																	48026682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1560T>G	2.37:g.48026682T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.G520	ENST00000234420.5	37	c.1560	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	220	0.89	2	T	NM_000179		48026682	48026682	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	silent	199	11.16	25	SNP	0.977	G
MSH6	2956	genome.wustl.edu	37	2	48026709	48026709	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:48026709T>G	ENST00000234420.5	+	4	1739	c.1587T>G	c.(1585-1587)ggT>ggG	p.G529G	MSH6_ENST00000540021.1_Silent_p.G399G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.G227G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	529					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTGGAAGGTGATCCCTCTG	0.428			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											126.0	122.0	124.0					2																	48026709		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1587T>G	2.37:g.48026709T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.G529	ENST00000234420.5	37	c.1587	CCDS1836.1	2																																																																																			MSH6	-	superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.428	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	243	0.41	1	T	NM_000179		48026709	48026709	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	silent	197	18.93	46	SNP	0.999	G
MSS51	118490	genome.wustl.edu	37	10	75184908	75184908	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:75184908T>G	ENST00000372912.1	-	5	1113	c.1111A>C	c.(1111-1113)Acc>Ccc	p.T371P	MSS51_ENST00000299432.2_Missense_Mutation_p.T371P			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	371					social behavior (GO:0035176)		metal ion binding (GO:0046872)										AGCAGCAGGGTGGGCAGCCAA	0.433																																						dbGAP											0													88.0	92.0	90.0					10																	75184908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1111A>C	10.37:g.75184908T>G	ENSP00000362003:p.Thr371Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T371P	ENST00000372912.1	37	c.1111	CCDS31221.1	10	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639794	0.87760	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	M	0.68593	2.085	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81523	-0.0894	10	0.72032	D	0.01	-11.8668	13.2775	0.60196	0.0:0.0:0.0:1.0	.	150;371	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	P	371	ENSP00000299432:T371P;ENSP00000362003:T371P	ENSP00000299432:T371P	T	-	1	0	ZMYND17	74854914	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.812000	0.69194	2.230000	0.72887	0.528000	0.53228	ACC	MSS51	-	NULL	ENSG00000166343		0.433	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3	74	0.00	0	T	NM_178451		75184908	75184908	-1	no_errors	ENST00000299432	ensembl	human	known	69_37n	missense	149	17.13	31	SNP	1.000	G
MSS51	118490	genome.wustl.edu	37	10	75186428	75186428	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:75186428T>C	ENST00000372912.1	-	3	441	c.439A>G	c.(439-441)Agg>Ggg	p.R147G	AL353731.1_ENST00000584907.1_RNA|MSS51_ENST00000299432.2_Missense_Mutation_p.R147G			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	147					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TGACAAACCCTCCTGTGTGCG	0.483																																						dbGAP											0													173.0	153.0	160.0					10																	75186428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.439A>G	10.37:g.75186428T>C	ENSP00000362003:p.Arg147Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R147G	ENST00000372912.1	37	c.439	CCDS31221.1	10	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344425	0.61073	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.44482	0.92;0.92	5.72	4.55	0.56014	Zinc finger, MYND-type (3);	0.355182	0.31312	N	0.007872	T	0.32010	0.0815	L	0.32530	0.975	0.26364	N	0.976997	P;P	0.36354	0.549;0.493	B;B	0.37198	0.243;0.234	T	0.11792	-1.0573	10	0.30854	T	0.27	-0.5413	11.0244	0.47736	0.0:0.0:0.1562:0.8438	.	147;147	Q4VC12;F6VAV3	ZMY17_HUMAN;.	G	147	ENSP00000299432:R147G;ENSP00000362003:R147G	ENSP00000299432:R147G	R	-	1	2	ZMYND17	74856434	1.000000	0.71417	0.500000	0.27589	0.996000	0.88848	5.725000	0.68507	0.945000	0.37605	0.528000	0.53228	AGG	MSS51	-	pfam_Znf_MYND,pfscan_Znf_MYND	ENSG00000166343		0.483	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3	219	0.00	0	T	NM_178451		75186428	75186428	-1	no_errors	ENST00000299432	ensembl	human	known	69_37n	missense	284	10.34	33	SNP	0.995	C
MST1R	4486	genome.wustl.edu	37	3	49933682	49933682	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49933682T>G	ENST00000296474.3	-	10	2622	c.2595A>C	c.(2593-2595)ccA>ccC	p.P865P	MST1R_ENST00000344206.4_Silent_p.P865P	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	865					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGCACTGGGTGGATGGGGTG	0.572																																						dbGAP											0													101.0	100.0	101.0					3																	49933682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2595A>C	3.37:g.49933682T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A944|B5A945|B5A946|B5A947	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.P865	ENST00000296474.3	37	c.2595	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,smart_IPT_TIG_rcpt	ENSG00000164078		0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	42	0.00	0	T			49933682	49933682	-1	no_errors	ENST00000296474	ensembl	human	known	69_37n	silent	65	10.96	8	SNP	0.001	G
MSTO1	55154	genome.wustl.edu	37	1	155580926	155580926	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155580926T>G	ENST00000245564.2	+	3	314				MSTO1_ENST00000483734.1_Intron|MSTO1_ENST00000368341.4_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator						mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TGGATAAGGGTGGGGATCGTG	0.473																																						dbGAP											0													4.0	3.0	4.0					1																	155580926		1733	3620	5353	-	-	-	SO:0001627	intron_variant	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.290+27T>G	1.37:g.155580926T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	RNA	SNP	-	NULL	ENST00000245564.2	37	NULL	CCDS1114.1	1																																																																																			MSTO1	-	-	ENSG00000125459		0.473	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	47	0.00	0	T	NM_018116		155580926	155580926	+1	no_errors	ENST00000482284	ensembl	human	known	69_37n	rna	38	29.31	17	SNP	0.000	G
MT1X	4501	genome.wustl.edu	37	16	56717259	56717259	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:56717259A>C	ENST00000394485.4	+	2	211				RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000562939.1_3'UTR	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X						cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(2)	2						CTCCTTCAACACCTGATTCag	0.527																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"""Metallothioneins"""	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	ENST00000394485.4:c.94+117A>C	16.37:g.56717259A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUC7	RNA	SNP	-	NULL	ENST00000394485.4	37	NULL	CCDS10768.1	16																																																																																			MT1X	-	-	ENSG00000187193		0.527	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1X	HGNC	protein_coding	OTTHUMT00000257060.1	22	0.00	0	A	NM_005952		56717259	56717259	+1	no_errors	ENST00000564974	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	0.000	C
MTG1	92170	genome.wustl.edu	37	10	135215538	135215538	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:135215538T>G	ENST00000317502.6	+	8	623				MTG1_ENST00000477902.2_Intron|RP11-108K14.8_ENST00000468317.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TGGGGTTGGGTCCCTGAGGCC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.574-115T>G	10.37:g.135215538T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	RNA	SNP	-	NULL	ENST00000317502.6	37	NULL	CCDS31320.1	10																																																																																			MTG1	-	-	ENSG00000148824		0.597	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	Clone_based_vega_gene	protein_coding	OTTHUMT00000051166.1	41	0.00	0	T	NM_138384		135215538	135215538	+1	no_errors	ENST00000460848	ensembl	human	known	69_37n	rna	24	21.88	7	SNP	0.000	G
MTMR11	10903	genome.wustl.edu	37	1	149906418	149906418	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:149906418A>C	ENST00000439741.2	-	6	720	c.470T>G	c.(469-471)gTg>gGg	p.V157G	MTMR11_ENST00000406732.3_Splice_Site_p.V129G|MTMR11_ENST00000369140.3_Splice_Site_p.V85G|MTMR11_ENST00000361405.6_Splice_Site_p.V157G|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	157							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGCCATGGTCACCTGCAGAGG	0.498																																						dbGAP											0													111.0	88.0	95.0					1																	149906418		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.469-1T>G	1.37:g.149906418A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.V157G	ENST00000439741.2	37	c.470	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759784	0.69763	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	6.17	6.17	0.99709	.	0.404229	0.25225	N	0.032204	D	0.89539	0.6744	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.909;0.996;0.991	D	0.90870	0.4745	10	0.87932	D	0	.	13.214	0.59844	1.0:0.0:0.0:0.0	.	129;85;157	A4FU01-6;A4FU01-4;A4FU01	.;.;MTMRB_HUMAN	G	85;157;157;129	ENSP00000358136:V85G;ENSP00000391668:V157G;ENSP00000354941:V157G;ENSP00000383948:V129G	ENSP00000354941:V157G	V	-	2	0	MTMR11	148173042	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.247000	0.58750	2.371000	0.80710	0.533000	0.62120	GTG	MTMR11	-	NULL	ENSG00000014914		0.498	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		166	0.59	1	A	NM_181873	Missense_Mutation	149906418	149906418	-1	no_errors	ENST00000439741	ensembl	human	known	69_37n	missense	202	10.96	25	SNP	1.000	C
MTMR12	54545	genome.wustl.edu	37	5	32274159	32274159	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:32274159A>C	ENST00000382142.3	-	3	382	c.212T>G	c.(211-213)gTc>gGc	p.V71G	MTMR12_ENST00000280285.5_Missense_Mutation_p.V71G|MTMR12_ENST00000264934.5_Missense_Mutation_p.V71G	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	71						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTCCCATAGACCCCATGCTG	0.468																																						dbGAP											0													190.0	164.0	173.0					5																	32274159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.212T>G	5.37:g.32274159A>C	ENSP00000371577:p.Val71Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	pfam_Myotubularin_assoc	p.V71G	ENST00000382142.3	37	c.212	CCDS34138.1	5	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889292	0.52014	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.83755	-1.76;-1.76;-1.76	4.8	4.8	0.61643	.	0.517604	0.19910	N	0.103319	T	0.78304	0.4262	L	0.36672	1.1	0.58432	D	0.999996	P;P;B	0.42409	0.779;0.741;0.314	P;B;B	0.44359	0.447;0.326;0.174	T	0.79895	-0.1610	10	0.87932	D	0	.	9.5968	0.39578	0.9092:0.0:0.0908:0.0	.	71;71;71	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	G	71	ENSP00000280285:V71G;ENSP00000371577:V71G;ENSP00000264934:V71G	ENSP00000264934:V71G	V	-	2	0	MTMR12	32309916	0.995000	0.38212	0.700000	0.30305	0.970000	0.65996	3.593000	0.54001	1.912000	0.55364	0.448000	0.29417	GTC	MTMR12	-	NULL	ENSG00000150712		0.468	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1	186	0.00	0	A	NM_019061		32274159	32274159	-1	no_errors	ENST00000382142	ensembl	human	known	69_37n	missense	221	10.16	25	SNP	0.970	C
MTMR9	66036	genome.wustl.edu	37	8	11162409	11162409	+	Silent	SNP	A	A	C	rs577252734		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:11162409A>C	ENST00000221086.3	+	4	950	c.477A>C	c.(475-477)ccA>ccC	p.P159P	MTMR9_ENST00000526292.1_Silent_p.P74P	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	159	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CCTCTTACCCACCAATTGTCA	0.438																																						dbGAP											0													259.0	217.0	231.0					8																	11162409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.477A>C	8.37:g.11162409A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	pfam_Myotub-related	p.P159	ENST00000221086.3	37	c.477	CCDS5979.1	8																																																																																			MTMR9	-	pfam_Myotub-related	ENSG00000104643		0.438	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	279	0.00	0	A	NM_015458		11162409	11162409	+1	no_errors	ENST00000221086	ensembl	human	known	69_37n	silent	313	11.76	42	SNP	0.828	C
MTMR7	9108	genome.wustl.edu	37	8	17169078	17169078	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:17169078A>C	ENST00000180173.5	-	9	1077	c.1043T>G	c.(1042-1044)gTg>gGg	p.V348G	MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.V348G	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	348	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CACCGAGCACACCTGAGCGGT	0.577																																						dbGAP											0													271.0	253.0	259.0					8																	17169078		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1043T>G	8.37:g.17169078A>C	ENSP00000180173:p.Val348Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.V348G	ENST00000180173.5	37	c.1043	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418470	0.83559	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.95137	-3.62;-3.62	4.86	4.86	0.63082	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	H	0.95079	3.62	0.80722	D	1	D;D	0.56035	0.974;0.968	P;P	0.55508	0.698;0.777	D	0.98602	1.0659	10	0.87932	D	0	.	14.9207	0.70835	1.0:0.0:0.0:0.0	.	348;348	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	G	348	ENSP00000180173:V348G;ENSP00000429733:V348G	ENSP00000180173:V348G	V	-	2	0	MTMR7	17213449	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.332000	0.79203	2.178000	0.69098	0.533000	0.62120	GTG	MTMR7	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	ENSG00000003987		0.577	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	413	0.48	2	A	NM_004686		17169078	17169078	-1	no_errors	ENST00000180173	ensembl	human	known	69_37n	missense	351	11.34	45	SNP	1.000	C
MTRF1	9617	genome.wustl.edu	37	13	41814470	41814470	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:41814470A>C	ENST00000379480.4	-	6	897	c.797T>G	c.(796-798)gTg>gGg	p.V266G	MTRF1_ENST00000379477.1_Missense_Mutation_p.V266G|MTRF1_ENST00000430347.2_Missense_Mutation_p.V279G	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	266					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GGACAGGCCCACCTCGGGGAT	0.547																																						dbGAP											0													130.0	112.0	118.0					13																	41814470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.797T>G	13.37:g.41814470A>C	ENSP00000368793:p.Val266Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.V279G	ENST00000379480.4	37	c.836	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138518	0.77775	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347	T;T;T	0.11821	2.74;2.74;2.74	5.76	5.76	0.90799	.	0.115062	0.56097	D	0.000021	T	0.13970	0.0338	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.993	P;P	0.58520	0.84;0.738	T	0.10474	-1.0628	10	0.87932	D	0	-14.0982	8.6243	0.33879	0.8865:0.0:0.1135:0.0	.	279;266	B4DG01;O75570	.;RF1M_HUMAN	G	266;266;279	ENSP00000368793:V266G;ENSP00000368790:V266G;ENSP00000400031:V279G	ENSP00000368790:V266G	V	-	2	0	MTRF1	40712470	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.234000	0.58658	2.193000	0.70182	0.402000	0.26972	GTG	MTRF1	-	NULL	ENSG00000120662		0.547	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	239	0.42	1	A	NM_004294		41814470	41814470	-1	no_errors	ENST00000430347	ensembl	human	known	69_37n	missense	201	13.73	32	SNP	1.000	C
MTRF1	9617	genome.wustl.edu	37	13	41814502	41814502	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:41814502A>C	ENST00000379480.4	-	6	865	c.765T>G	c.(763-765)ggT>ggG	p.G255G	MTRF1_ENST00000379477.1_Silent_p.G255G|MTRF1_ENST00000430347.2_Silent_p.G268G	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	255					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GGTGAATCCCACCCTCATACT	0.517																																						dbGAP											0													98.0	87.0	91.0					13																	41814502		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.765T>G	13.37:g.41814502A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG01|Q5T6Y5|Q8IUQ6	Silent	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.G268	ENST00000379480.4	37	c.804	CCDS9378.1	13																																																																																			MTRF1	-	NULL	ENSG00000120662		0.517	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	225	0.44	1	A	NM_004294		41814502	41814502	-1	no_errors	ENST00000430347	ensembl	human	known	69_37n	silent	192	14.29	32	SNP	1.000	C
MTRR	4552	genome.wustl.edu	37	5	7897315	7897315	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:7897315T>G	ENST00000264668.2	+	14	2018	c.1988T>G	c.(1987-1989)gTg>gGg	p.V663G	MTRR_ENST00000440940.2_Missense_Mutation_p.V636G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	663					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGCCAGCAGGTGGCGAGAATC	0.512																																						dbGAP											0													112.0	107.0	108.0					5																	7897315		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1988T>G	5.37:g.7897315T>G	ENSP00000264668:p.Val663Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth	p.V663G	ENST00000264668.2	37	c.1988	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303927	0.60305	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.80123	-1.34;-1.34	5.4	5.4	0.78164	Oxidoreductase FAD/NAD(P)-binding (1);	0.114922	0.64402	D	0.000013	D	0.93080	0.7797	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95315	0.8415	10	0.87932	D	0	-18.8407	15.4183	0.74991	0.0:0.0:0.0:1.0	.	663	Q9UBK8	MTRR_HUMAN	G	663;636	ENSP00000264668:V663G;ENSP00000402510:V636G	ENSP00000264668:V663G	V	+	2	0	MTRR	7950315	1.000000	0.71417	0.966000	0.40874	0.125000	0.20455	5.441000	0.66569	2.029000	0.59856	0.533000	0.62120	GTG	MTRR	-	pfam_OxRdtase_FAD/NAD-bd	ENSG00000124275		0.512	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1	119	0.83	1	T			7897315	7897315	+1	no_errors	ENST00000264668	ensembl	human	known	69_37n	missense	80	15.79	15	SNP	0.996	G
MTTP	4547	genome.wustl.edu	37	4	100521744	100521744	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:100521744A>C	ENST00000265517.5	+	9	1293	c.1090A>C	c.(1090-1092)Acc>Ccc	p.T364P	MTTP_ENST00000457717.1_Missense_Mutation_p.T364P|MTTP_ENST00000511045.1_Missense_Mutation_p.T391P|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	364	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGATGCTGTCACCTCTGCTCA	0.408																																						dbGAP											0													143.0	141.0	142.0					4																	100521744		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1090A>C	4.37:g.100521744A>C	ENSP00000265517:p.Thr364Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.T364P	ENST00000265517.5	37	c.1090	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924423	0.73213	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.38240	1.15;1.15;1.15	4.86	4.86	0.63082	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.76574	2.34	0.58432	D	0.999997	D;D	0.71674	0.996;0.998	D;D	0.68943	0.92;0.961	T	0.57894	-0.7732	10	0.02654	T	1	-23.8378	9.8198	0.40876	0.9192:0.0:0.0808:0.0	.	391;364	E9PBP6;P55157	.;MTP_HUMAN	P	391;364;364;364	ENSP00000427679:T391P;ENSP00000400821:T364P;ENSP00000265517:T364P	ENSP00000265517:T364P	T	+	1	0	MTTP	100740767	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.001000	0.76297	1.800000	0.52685	0.533000	0.62120	ACC	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000138823		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	264	0.00	0	A			100521744	100521744	+1	no_errors	ENST00000265517	ensembl	human	known	69_37n	missense	187	12.62	27	SNP	1.000	C
MTUS2	23281	genome.wustl.edu	37	13	29600551	29600551	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:29600551A>C	ENST00000431530.3	+	1	1804	c.1746A>C	c.(1744-1746)ccA>ccC	p.P582P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	572						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGTAGTTCCACCCCCTACTG	0.532																																						dbGAP											0													93.0	98.0	96.0					13																	29600551		2023	4182	6205	-	-	-	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1746A>C	13.37:g.29600551A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.P582	ENST00000431530.3	37	c.1746	CCDS45022.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	197	1.00	2	A	XM_166270		29600551	29600551	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	silent	130	19.75	32	SNP	0.002	C
MUC16	94025	genome.wustl.edu	37	19	9010977	9010977	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9010977T>G	ENST00000397910.4	-	37	39144	c.38941A>C	c.(38941-38943)Acc>Ccc	p.T12981P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12983					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTGCTGGTGGGGGCCACA	0.522																																						dbGAP											0													148.0	130.0	136.0					19																	9010977		1919	4121	6040	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38941A>C	19.37:g.9010977T>G	ENSP00000381008:p.Thr12981Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T12981P	ENST00000397910.4	37	c.38941	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	8.114	0.779427	0.16120	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.35973	1.28	1.54	-3.07	0.05363	.	.	.	.	.	T	0.29976	0.0750	M	0.67953	2.075	.	.	.	B	0.20459	0.045	B	0.11329	0.006	T	0.28299	-1.0048	8	0.87932	D	0	.	3.3764	0.07239	0.2275:0.0:0.458:0.3145	.	12981	B5ME49	.	P	12981;134	ENSP00000381008:T12981P	ENSP00000381008:T12981P	T	-	1	0	MUC16	8871977	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-2.866000	0.00723	-1.352000	0.02194	0.254000	0.18369	ACC	MUC16	-	smart_SEA	ENSG00000181143		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	401	0.00	0	T	NM_024690		9010977	9010977	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	460	15.10	82	SNP	0.004	G
MUC16	94025	genome.wustl.edu	37	19	9045772	9045772	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9045772T>G	ENST00000397910.4	-	5	36062	c.35859A>C	c.(35857-35859)ccA>ccC	p.P11953P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11955	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTTTAGGTGGTGTTGGCA	0.473																																						dbGAP											0													198.0	187.0	191.0					19																	9045772		1974	4161	6135	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35859A>C	19.37:g.9045772T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P11953	ENST00000397910.4	37	c.35859	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	236	0.42	1	T	NM_024690		9045772	9045772	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	146	13.95	24	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9048196	9048196	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9048196T>G	ENST00000397910.4	-	5	33638	c.33435A>C	c.(33433-33435)tcA>tcC	p.S11145S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11147	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACCTCAGGTGAAACAGTTA	0.458																																						dbGAP											0													90.0	82.0	84.0					19																	9048196		1906	4136	6042	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33435A>C	19.37:g.9048196T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S11145	ENST00000397910.4	37	c.33435	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	392	0.25	1	T	NM_024690		9048196	9048196	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	344	10.85	42	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9050145	9050145	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9050145T>G	ENST00000397910.4	-	5	31689	c.31486A>C	c.(31486-31488)Acc>Ccc	p.T10496P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10498	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGACACTGGTGGTCAAGGTG	0.507																																						dbGAP											0													450.0	439.0	443.0					19																	9050145		2144	4243	6387	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31486A>C	19.37:g.9050145T>G	ENSP00000381008:p.Thr10496Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T10496P	ENST00000397910.4	37	c.31486	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	8.606	0.888017	0.17540	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	3.51	-2.86	0.05717	.	.	.	.	.	T	0.06234	0.0161	L	0.43152	1.355	.	.	.	D	0.71674	0.998	D	0.68943	0.961	T	0.25117	-1.0141	8	0.87932	D	0	.	2.9536	0.05869	0.3429:0.3286:0.0:0.3285	.	10496	B5ME49	.	P	10496	ENSP00000381008:T10496P	ENSP00000381008:T10496P	T	-	1	0	MUC16	8911145	0.012000	0.17670	0.001000	0.08648	0.141000	0.21300	-0.360000	0.07622	-0.776000	0.04578	0.473000	0.43528	ACC	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	1175	0.09	1	T	NM_024690		9050145	9050145	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	1260	12.21	176	SNP	0.001	G
MUC16	94025	genome.wustl.edu	37	19	9067940	9067940	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9067940T>G	ENST00000397910.4	-	3	19709	c.19506A>C	c.(19504-19506)ccA>ccC	p.P6502P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6504	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACAGAGGGTGGGCTTGTCC	0.478																																						dbGAP											0													131.0	131.0	131.0					19																	9067940		1950	4144	6094	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19506A>C	19.37:g.9067940T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P6502	ENST00000397910.4	37	c.19506	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	148	0.00	0	T	NM_024690		9067940	9067940	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	207	17.46	44	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9071743	9071743	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9071743T>G	ENST00000397910.4	-	3	15906	c.15703A>C	c.(15703-15705)Acc>Ccc	p.T5235P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5237	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTGGGGTGGAAATTTTG	0.478																																						dbGAP											0													164.0	161.0	162.0					19																	9071743		1985	4164	6149	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15703A>C	19.37:g.9071743T>G	ENSP00000381008:p.Thr5235Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T5235P	ENST00000397910.4	37	c.15703	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	3.359	-0.130826	0.06753	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.94	-3.26	0.05064	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.34346	0.18	T	0.41431	-0.9509	8	0.87932	D	0	.	0.5894	0.00725	0.1996:0.1611:0.3499:0.2894	.	5235	B5ME49	.	P	5235	ENSP00000381008:T5235P	ENSP00000381008:T5235P	T	-	1	0	MUC16	8932743	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.119000	0.03276	-0.960000	0.03613	0.369000	0.22263	ACC	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	309	0.00	0	T	NM_024690		9071743	9071743	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	413	14.72	72	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9075988	9075988	+	Missense_Mutation	SNP	T	T	G	rs370759742		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9075988T>G	ENST00000397910.4	-	3	11661	c.11458A>C	c.(11458-11460)Acc>Ccc	p.T3820P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3821	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGAAGTGGTGGTGGGAAGC	0.507																																						dbGAP											0													226.0	213.0	217.0					19																	9075988		2063	4219	6282	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11458A>C	19.37:g.9075988T>G	ENSP00000381008:p.Thr3820Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T3820P	ENST00000397910.4	37	c.11458	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	5.534	0.283434	0.10458	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.9	1.9	0.25705	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.83275	0.996	T	0.41215	-0.9521	8	0.87932	D	0	.	5.8351	0.18602	0.0:0.0:0.0:1.0	.	3820	B5ME49	.	P	3820	ENSP00000381008:T3820P	ENSP00000381008:T3820P	T	-	1	0	MUC16	8936988	0.015000	0.18098	0.053000	0.19242	0.142000	0.21351	0.860000	0.27871	1.127000	0.42034	0.260000	0.18958	ACC	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	440	0.22	1	T	NM_024690		9075988	9075988	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	443	10.14	50	SNP	0.061	G
MUC16	94025	genome.wustl.edu	37	19	9087146	9087146	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9087146T>G	ENST00000397910.4	-	1	4872	c.4669A>C	c.(4669-4671)Acc>Ccc	p.T1557P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1557	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGAAAGGGTGTCCTGTGCT	0.488																																						dbGAP											0													422.0	398.0	406.0					19																	9087146		2093	4227	6320	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4669A>C	19.37:g.9087146T>G	ENSP00000381008:p.Thr1557Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T1557P	ENST00000397910.4	37	c.4669	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	3.747	-0.052431	0.07362	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	0.235	0.235	0.15431	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.65323	0.934	T	0.45308	-0.9270	7	0.87932	D	0	.	.	.	.	.	1557	B5ME49	.	P	1557	ENSP00000381008:T1557P	ENSP00000381008:T1557P	T	-	1	0	MUC16	8948146	0.001000	0.12720	0.278000	0.24718	0.284000	0.27059	0.181000	0.16880	0.263000	0.21812	0.260000	0.18958	ACC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	406	0.49	2	T	NM_024690		9087146	9087146	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	335	10.61	40	SNP	0.353	G
MUC16	94025	genome.wustl.edu	37	19	9087851	9087851	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9087851T>G	ENST00000397910.4	-	1	4167	c.3964A>C	c.(3964-3966)Acc>Ccc	p.T1322P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1322	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTAGGTGGTGGGGTCCCAG	0.498																																						dbGAP											0													138.0	136.0	137.0					19																	9087851		2119	4243	6362	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3964A>C	19.37:g.9087851T>G	ENSP00000381008:p.Thr1322Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T1322P	ENST00000397910.4	37	c.3964	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	1.187	-0.636350	0.03557	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.3	-2.59	0.06209	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.40659	0.336	T	0.39461	-0.9613	8	0.87932	D	0	.	2.0847	0.03643	0.4913:0.2052:0.0:0.3035	.	1322	B5ME49	.	P	1322	ENSP00000381008:T1322P	ENSP00000381008:T1322P	T	-	1	0	MUC16	8948851	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.942000	0.03921	-1.351000	0.02197	0.254000	0.18369	ACC	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	304	0.00	0	T	NM_024690		9087851	9087851	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	216	18.18	48	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9087903	9087903	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9087903T>G	ENST00000397910.4	-	1	4115	c.3912A>C	c.(3910-3912)tcA>tcC	p.S1304S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1304	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATCTCAGGTGAAGACCCAG	0.498																																						dbGAP											0													137.0	134.0	135.0					19																	9087903		2039	4197	6236	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3912A>C	19.37:g.9087903T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S1304	ENST00000397910.4	37	c.3912	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	379	0.26	1	T	NM_024690		9087903	9087903	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	288	10.74	35	SNP	0.003	G
MUC16	94025	genome.wustl.edu	37	19	9089350	9089350	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9089350T>G	ENST00000397910.4	-	1	2668	c.2465A>C	c.(2464-2466)cAc>cCc	p.H822P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	822	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGTTGGGTGGATGTTAGG	0.512																																						dbGAP											0													228.0	217.0	220.0					19																	9089350		2030	4188	6218	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2465A>C	19.37:g.9089350T>G	ENSP00000381008:p.His822Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H822P	ENST00000397910.4	37	c.2465	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	1.538	-0.542425	0.04053	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.56	-1.69	0.08186	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.44267	-0.9339	8	0.87932	D	0	.	3.3188	0.07043	0.0:0.2417:0.3856:0.3727	.	822	B5ME49	.	P	822	ENSP00000381008:H822P	ENSP00000381008:H822P	H	-	2	0	MUC16	8950350	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.724000	0.01865	-0.366000	0.08064	0.172000	0.16884	CAC	MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	392	0.51	2	T	NM_024690		9089350	9089350	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	305	15.75	57	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9090455	9090455	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9090455T>G	ENST00000397910.4	-	1	1563	c.1360A>C	c.(1360-1362)Acc>Ccc	p.T454P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	454	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGACCAAGGTGGCAGTCATT	0.488																																						dbGAP											0													182.0	171.0	175.0					19																	9090455		1963	4147	6110	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1360A>C	19.37:g.9090455T>G	ENSP00000381008:p.Thr454Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T454P	ENST00000397910.4	37	c.1360	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	2.951	-0.216784	0.06101	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.45	1.45	0.22620	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.72982	0.979	T	0.42310	-0.9459	8	0.87932	D	0	.	5.0298	0.14404	0.0:0.0:0.0:1.0	.	454	B5ME49	.	P	454	ENSP00000381008:T454P	ENSP00000381008:T454P	T	-	1	0	MUC16	8951455	0.001000	0.12720	0.004000	0.12327	0.062000	0.15995	-0.098000	0.11024	0.922000	0.37019	0.260000	0.18958	ACC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	417	0.24	1	T	NM_024690		9090455	9090455	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	376	11.50	49	SNP	0.005	G
MUC17	140453	genome.wustl.edu	37	7	100677347	100677347	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100677347A>C	ENST00000306151.4	+	3	2714	c.2650A>C	c.(2650-2652)Acc>Ccc	p.T884P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	884	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAATCAGCACCCTTTCAAC	0.493																																						dbGAP											0													296.0	290.0	292.0					7																	100677347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2650A>C	7.37:g.100677347A>C	ENSP00000302716:p.Thr884Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T884P	ENST00000306151.4	37	c.2650	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	0.840	-0.742373	0.03088	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.5	-1.0	0.10196	.	.	.	.	.	T	0.01800	0.0057	N	0.24115	0.695	0.09310	N	1	B	0.24576	0.106	B	0.12837	0.008	T	0.46331	-0.9199	9	0.40728	T	0.16	.	1.487	0.02449	0.3482:0.3249:0.0:0.3269	.	884	Q685J3	MUC17_HUMAN	P	884	ENSP00000302716:T884P	ENSP00000302716:T884P	T	+	1	0	MUC17	100464067	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.264000	0.08658	-0.672000	0.05266	0.165000	0.16767	ACC	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	489	0.20	1	A	NM_001040105		100677347	100677347	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	339	14.07	56	SNP	0.001	C
MUC17	140453	genome.wustl.edu	37	7	100678409	100678409	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100678409A>C	ENST00000306151.4	+	3	3776	c.3712A>C	c.(3712-3714)Acc>Ccc	p.T1238P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1238	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCAAC	0.522																																						dbGAP											0													305.0	292.0	297.0					7																	100678409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3712A>C	7.37:g.100678409A>C	ENSP00000302716:p.Thr1238Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T1238P	ENST00000306151.4	37	c.3712	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	0.831	-0.745175	0.03065	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.838	-1.68	0.08212	.	.	.	.	.	T	0.01800	0.0057	L	0.27053	0.805	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.38243	-0.9670	9	0.25751	T	0.34	.	1.5183	0.02510	0.4493:0.0:0.2463:0.3044	.	1238	Q685J3	MUC17_HUMAN	P	1238	ENSP00000302716:T1238P	ENSP00000302716:T1238P	T	+	1	0	MUC17	100465129	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.370000	0.02575	-1.133000	0.02903	0.113000	0.15668	ACC	MUC17	-	NULL	ENSG00000169876		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	380	0.26	1	A	NM_001040105		100678409	100678409	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	270	12.62	39	SNP	0.000	C
MUC17	140453	genome.wustl.edu	37	7	100678795	100678795	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100678795A>C	ENST00000306151.4	+	3	4162	c.4098A>C	c.(4096-4098)acA>acC	p.T1366T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1366	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACAGCACACCTGTGACCA	0.458																																						dbGAP											0													230.0	235.0	233.0					7																	100678795		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4098A>C	7.37:g.100678795A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T1366	ENST00000306151.4	37	c.4098	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	389	0.00	0	A	NM_001040105		100678795	100678795	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	277	10.32	32	SNP	0.000	C
MUC17	140453	genome.wustl.edu	37	7	100679716	100679716	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100679716A>C	ENST00000306151.4	+	3	5083	c.5019A>C	c.(5017-5019)acA>acC	p.T1673T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1673	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATCTCCTACACCTGCTGAAG	0.498																																						dbGAP											0													209.0	221.0	217.0					7																	100679716		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5019A>C	7.37:g.100679716A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T1673	ENST00000306151.4	37	c.5019	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	339	0.29	1	A	NM_001040105		100679716	100679716	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	256	10.49	30	SNP	0.097	C
MUC17	140453	genome.wustl.edu	37	7	100681412	100681412	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100681412A>C	ENST00000306151.4	+	3	6779	c.6715A>C	c.(6715-6717)Acc>Ccc	p.T2239P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2239	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCAGC	0.502																																						dbGAP											0													346.0	341.0	343.0					7																	100681412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6715A>C	7.37:g.100681412A>C	ENSP00000302716:p.Thr2239Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T2239P	ENST00000306151.4	37	c.6715	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	3.438	-0.114689	0.06881	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	1.54	0.241	0.15494	.	.	.	.	.	T	0.02119	0.0066	L	0.27053	0.805	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.48875	-0.8996	9	0.37606	T	0.19	.	4.4493	0.11612	0.788:0.0:0.212:0.0	.	2239	Q685J3	MUC17_HUMAN	P	2239	ENSP00000302716:T2239P	ENSP00000302716:T2239P	T	+	1	0	MUC17	100468132	0.009000	0.17119	0.001000	0.08648	0.011000	0.07611	0.222000	0.17699	-0.077000	0.12752	0.113000	0.15668	ACC	MUC17	-	NULL	ENSG00000169876		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	330	0.90	3	A	NM_001040105		100681412	100681412	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	272	11.94	37	SNP	0.034	C
MUC17	140453	genome.wustl.edu	37	7	100682693	100682693	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100682693A>C	ENST00000306151.4	+	3	8060	c.7996A>C	c.(7996-7998)Act>Cct	p.T2666P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2666	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2666S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTGTGACCACTTCCACTGG	0.463																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											228.0	228.0	228.0					7																	100682693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7996A>C	7.37:g.100682693A>C	ENSP00000302716:p.Thr2666Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T2666P	ENST00000306151.4	37	c.7996	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	7.917	0.737689	0.15574	.	.	ENSG00000169876	ENST00000306151	T	0.03524	3.9	0.953	0.953	0.19590	.	.	.	.	.	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	D	0.65684	0.937	T	0.42682	-0.9437	9	0.30078	T	0.28	.	2.9168	0.05755	0.7153:0.0:0.2847:0.0	.	2666	Q685J3	MUC17_HUMAN	P	2666	ENSP00000302716:T2666P	ENSP00000302716:T2666P	T	+	1	0	MUC17	100469413	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.156000	0.16382	0.700000	0.31782	0.113000	0.15668	ACT	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	253	0.78	2	A	NM_001040105		100682693	100682693	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	249	11.39	32	SNP	0.007	C
MUC3A	4584	genome.wustl.edu	37	7	100552306	100552306	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100552306A>C	ENST00000319509.7	+	1	1057	c.1057A>C	c.(1057-1059)Acc>Ccc	p.T353P				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2018	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCTCCTCCCACCACCCCATT	0.463																																						dbGAP											0													616.0	572.0	585.0					7																	100552306		876	1991	2867	-	-	-	SO:0001583	missense	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1057A>C	7.37:g.100552306A>C	ENSP00000324834:p.Thr353Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	pfam_SEA,smart_EGF-like,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T353P	ENST00000319509.7	37	c.1057		7	.	.	.	.	.	.	.	.	.	.	A	1.436	-0.568851	0.03910	.	.	ENSG00000169894	ENST00000319509	T	0.09630	2.96	1.57	-3.14	0.05250	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.31099	N	0.710612	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	8	0.33940	T	0.23	.	4.1314	0.10151	0.6107:0.1535:0.0:0.2358	.	2018	Q02505	MUC3A_HUMAN	P	353	ENSP00000324834:T353P	ENSP00000324834:T353P	T	+	1	0	MUC3A	100390242	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.463000	0.21972	-2.568000	0.00469	-2.142000	0.00338	ACC	MUC3A	-	NULL	ENSG00000169894		0.463	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	MUC3A	HGNC	protein_coding	OTTHUMT00000347215.1	272	0.36	1	A	XM_001725354		100552306	100552306	+1	no_start_codon	ENST00000319509	ensembl	human	known	69_37n	missense	398	10.14	45	SNP	0.007	C
MUC17	140453	genome.wustl.edu	37	7	100683214	100683214	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100683214A>C	ENST00000306151.4	+	3	8581	c.8517A>C	c.(8515-8517)acA>acC	p.T2839T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2839	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCAGCACACCTGTGACCA	0.473																																						dbGAP											0													250.0	258.0	255.0					7																	100683214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8517A>C	7.37:g.100683214A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T2839	ENST00000306151.4	37	c.8517	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	269	0.37	1	A	NM_001040105		100683214	100683214	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	242	11.96	33	SNP	0.001	C
MUC5B	727897	genome.wustl.edu	37	11	1268931	1268931	+	Silent	SNP	A	A	C	rs2334757	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:1268931A>C	ENST00000529681.1	+	31	10879	c.10821A>C	c.(10819-10821)gcA>gcC	p.A3607A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.A3610A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3607	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGAGGGGCAGTCTGTGAGC	0.672													-|||	1447	0.288938	0.2065	0.2565	5008	,	,		10450	0.5159		0.2078	False		,,,				2504	0.273					dbGAP											0													38.0	41.0	40.0					11																	1268931		1863	4019	5882	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10821A>C	11.37:g.1268931A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A3610	ENST00000529681.1	37	c.10830	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	12	0.00	0	A	XM_001126093		1268931	1268931	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	11	27.78	5	SNP	0.000	C
MUC7	4589	genome.wustl.edu	37	4	71346686	71346686	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71346686A>C	ENST00000304887.5	+	3	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Silent_p.P75P|MUC7_ENST00000456088.1_Silent_p.P75P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	75					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTAAGCTTCCACCTTCACCTA	0.448																																						dbGAP											0													139.0	136.0	137.0					4																	71346686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.225A>C	4.37:g.71346686A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCD7|Q9UCD8	Silent	SNP	NULL	p.P75	ENST00000304887.5	37	c.225	CCDS3541.1	4																																																																																			MUC7	-	NULL	ENSG00000171195		0.448	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	469	0.21	1	A	NM_152291		71346686	71346686	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	silent	412	12.10	57	SNP	0.001	C
MUSK	4593	genome.wustl.edu	37	9	113509990	113509990	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113509990A>C	ENST00000374448.4	+	7	957	c.823A>C	c.(823-825)Acc>Ccc	p.T275P	MUSK_ENST00000416899.2_Missense_Mutation_p.T275P|MUSK_ENST00000189978.5_Missense_Mutation_p.T275P	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	275	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTTTATCACCAAGCCAGG	0.468																																						dbGAP											0													150.0	143.0	145.0					9																	113509990		1993	4181	6174	-	-	-	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.823A>C	9.37:g.113509990A>C	ENSP00000363571:p.Thr275Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T275P	ENST00000374448.4	37	c.823	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299853	0.81136	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.13307	2.6	6.0	6.0	0.97389	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.356444	0.32655	N	0.005808	T	0.32436	0.0829	L	0.54323	1.7	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.68621	0.959;0.924	T	0.01578	-1.1320	10	0.87932	D	0	.	14.4568	0.67420	1.0:0.0:0.0:0.0	.	275;285	O15146;F5H6T2	MUSK_HUMAN;.	P	275;275;275;285;285;275	ENSP00000363571:T275P	ENSP00000189978:T275P	T	+	1	0	MUSK	112549811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.683000	0.68189	2.297000	0.77311	0.533000	0.62120	ACC	MUSK	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000030304		0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		349	0.57	2	A			113509990	113509990	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	missense	280	13.27	43	SNP	1.000	C
MUSK	4593	genome.wustl.edu	37	9	113530150	113530150	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113530150T>G	ENST00000374448.4	+	9	1105	c.971T>G	c.(970-972)gTg>gGg	p.V324G	MUSK_ENST00000416899.2_Missense_Mutation_p.V324G|MUSK_ENST00000189978.5_Missense_Mutation_p.V324G	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	324	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGAGGGGAGGTGTGTAATGCA	0.468																																						dbGAP											0													120.0	122.0	121.0					9																	113530150		1924	4144	6068	-	-	-	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.971T>G	9.37:g.113530150T>G	ENSP00000363571:p.Val324Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V330G	ENST00000374448.4	37	c.989	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920201	0.73098	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000416899	T	0.77620	-1.11	5.08	5.08	0.68730	Frizzled domain (3);	0.061128	0.64402	D	0.000004	D	0.86117	0.5856	M	0.80183	2.485	0.80722	D	1	D	0.64830	0.994	P	0.59889	0.865	D	0.87247	0.2270	10	0.49607	T	0.09	.	14.3252	0.66515	0.0:0.0:0.0:1.0	.	324	O15146	MUSK_HUMAN	G	330;324;324;330	ENSP00000363571:V324G	ENSP00000189978:V330G	V	+	2	0	MUSK	112569971	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.771000	0.55318	2.058000	0.61347	0.482000	0.46254	GTG	MUSK	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000030304		0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		244	0.00	0	T			113530150	113530150	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	missense	191	14.35	32	SNP	1.000	G
MUSK	4593	genome.wustl.edu	37	9	113538211	113538211	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113538211A>C	ENST00000374448.4	+	10	1462	c.1328A>C	c.(1327-1329)gAc>gCc	p.D443A	MUSK_ENST00000374438.1_Silent_p.G34G|MUSK_ENST00000416899.2_Missense_Mutation_p.D443A|MUSK_ENST00000189978.5_Missense_Mutation_p.D443A	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	443	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATGCATTGGGACCCCACGGCC	0.488																																						dbGAP											0													135.0	133.0	133.0					9																	113538211		1929	4140	6069	-	-	-	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1328A>C	9.37:g.113538211A>C	ENSP00000363571:p.Asp443Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D449A	ENST00000374448.4	37	c.1346	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504873	0.44558	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.76186	-1.0	5.74	5.74	0.90152	Frizzled domain (2);	0.093458	0.64402	D	0.000001	T	0.72374	0.3452	L	0.50919	1.6	0.80722	D	1	P	0.40578	0.722	B	0.41374	0.355	T	0.75797	-0.3191	10	0.66056	D	0.02	.	15.2145	0.73254	1.0:0.0:0.0:0.0	.	443	O15146	MUSK_HUMAN	A	449;443;443;365;365;449	ENSP00000363571:D443A	ENSP00000189978:D449A	D	+	2	0	MUSK	112578032	1.000000	0.71417	0.963000	0.40424	0.420000	0.31355	7.782000	0.85680	2.189000	0.69895	0.459000	0.35465	GAC	MUSK	-	pfam_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000030304		0.488	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		262	0.76	2	A			113538211	113538211	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	missense	153	13.56	24	SNP	1.000	C
MUSK	4593	genome.wustl.edu	37	9	113562968	113562968	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113562968A>C	ENST00000374448.4	+	15	2444	c.2310A>C	c.(2308-2310)ccA>ccC	p.P770P	MUSK_ENST00000416899.2_Silent_p.P762P|MUSK_ENST00000189978.5_Silent_p.P770P	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTTGGATGCCACCAGAGTCCA	0.498																																						dbGAP											0													101.0	98.0	99.0					9																	113562968		1953	4147	6100	-	-	-	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2310A>C	9.37:g.113562968A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P776	ENST00000374448.4	37	c.2328	CCDS48005.1	9																																																																																			MUSK	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000030304		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		256	0.00	0	A			113562968	113562968	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	silent	156	15.22	28	SNP	0.059	C
MX1	4599	genome.wustl.edu	37	21	42811671	42811671	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:42811671A>C	ENST00000398600.2	+	10	1512	c.487A>C	c.(487-489)Acc>Ccc	p.T163P	MX1_ENST00000288383.6_Missense_Mutation_p.T140P|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000455164.2_Missense_Mutation_p.T163P|MX1_ENST00000398598.3_Missense_Mutation_p.T163P	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	163	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TGAGCTAATCACCCTGGAGAT	0.507																																						dbGAP											0													158.0	148.0	151.0					21																	42811671		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.487A>C	21.37:g.42811671A>C	ENSP00000381601:p.Thr163Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.T163P	ENST00000398600.2	37	c.487	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525823	0.44969	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963;ENST00000288383	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	4.53	4.53	0.55603	Dynamin, GTPase domain (2);	0.569785	0.20422	N	0.092656	D	0.96864	0.8976	M	0.85630	2.765	0.09310	N	1	P	0.41624	0.757	P	0.50162	0.633	D	0.93370	0.6734	10	0.87932	D	0	-15.2484	8.0244	0.30427	0.7229:0.0:0.0:0.2771	.	163	P20591	MX1_HUMAN	P	163;163;163;163;163;140	ENSP00000381601:T163P;ENSP00000381599:T163P;ENSP00000410523:T163P;ENSP00000400923:T163P;ENSP00000402215:T163P;ENSP00000288383:T140P	ENSP00000288383:T140P	T	+	1	0	MX1	41733541	0.531000	0.26338	0.005000	0.12908	0.344000	0.29017	2.464000	0.45067	1.994000	0.58287	0.533000	0.62120	ACC	MX1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase	ENSG00000157601		0.507	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	117	0.00	0	A			42811671	42811671	+1	no_errors	ENST00000398598	ensembl	human	known	69_37n	missense	122	18.67	28	SNP	0.048	C
MXRA5	25878	genome.wustl.edu	37	X	3238469	3238469	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:3238469T>G	ENST00000217939.6	-	5	5411	c.5257A>C	c.(5257-5259)Act>Cct	p.T1753P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1753						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)				GCAGGAGAAGTGGGTATCTGG	0.478																																						dbGAP											0													65.0	60.0	62.0					X																	3238469		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.5257A>C	X.37:g.3238469T>G	ENSP00000217939:p.Thr1753Pro	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.T1753P	ENST00000217939.6	37	c.5257	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	T	6.318	0.426764	0.11987	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63580	-0.05	3.18	3.18	0.36537	.	0.404392	0.17717	U	0.164369	T	0.34193	0.0889	N	0.08118	0	0.09310	N	1	P	0.39964	0.697	B	0.32289	0.143	T	0.11397	-1.0589	10	0.37606	T	0.19	.	8.0219	0.30415	0.0:0.1071:0.0:0.8929	.	1753	Q9NR99	MXRA5_HUMAN	P	1753	ENSP00000217939:T1753P	ENSP00000217939:T1753P	T	-	1	0	MXRA5	3248469	0.256000	0.24012	0.008000	0.14137	0.024000	0.10985	0.228000	0.17814	0.996000	0.38943	0.237000	0.17872	ACT	MXRA5	-	NULL	ENSG00000101825		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	91	0.00	0	T	NM_015419		3238469	3238469	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	0.066	G
MYCL	4610	genome.wustl.edu	37	1	40363333	40363333	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:40363333T>G	ENST00000372816.2	-	2	1253	c.806A>C	c.(805-807)cAc>cCc	p.H269P	MYCL_ENST00000397332.2_Missense_Mutation_p.H299P|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	269						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGTTTGGGGTGGCAGGACTG	0.532																																						dbGAP											0													109.0	109.0	109.0					1																	40363333		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.806A>C	1.37:g.40363333T>G	ENSP00000361903:p.His269Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc	p.H269P	ENST00000372816.2	37	c.806	CCDS30682.1	1	.	.	.	.	.	.	.	.	.	.	T	8.097	0.775748	0.16051	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	T;T	0.78246	-0.95;-1.16	6.17	5.04	0.67666	.	.	.	.	.	T	0.59972	0.2233	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52411	-0.8579	9	0.27082	T	0.32	0.1524	5.9766	0.19382	0.1448:0.0767:0.0:0.7785	.	269	P12524	MYCL1_HUMAN	P	299;269	ENSP00000380494:H299P;ENSP00000361903:H269P	ENSP00000361903:H269P	H	-	2	0	MYCL1	40135920	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	3.377000	0.52425	1.144000	0.42321	0.533000	0.62120	CAC	MYCL1	-	NULL	ENSG00000116990		0.532	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL1	HGNC	protein_coding	OTTHUMT00000277004.1	129	0.00	0	T	NM_001033082		40363333	40363333	-1	no_errors	ENST00000372816	ensembl	human	known	69_37n	missense	145	13.10	22	SNP	0.994	G
MYBPHL	343263	genome.wustl.edu	37	1	109840084	109840084	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109840084A>C	ENST00000357155.1	-	3	439	c.390T>G	c.(388-390)ggT>ggG	p.G130G	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	130	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCTCCAGCCCACCCAGCTGCA	0.617																																						dbGAP											0													67.0	62.0	64.0					1																	109840084		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.390T>G	1.37:g.109840084A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZME5|Q5T2Z7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G130	ENST00000357155.1	37	c.390	CCDS30793.1	1																																																																																			MYBPHL	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000221986		0.617	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	HGNC	protein_coding	OTTHUMT00000033197.1	69	0.00	0	A	NM_001010985		109840084	109840084	-1	no_errors	ENST00000357155	ensembl	human	known	69_37n	silent	38	19.61	10	SNP	0.001	C
MYF5	4617	genome.wustl.edu	37	12	81111320	81111320	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:81111320A>C	ENST00000228644.3	+	1	630	c.478A>C	c.(478-480)Acc>Ccc	p.T160P		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	160					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCAGCCCCACCTCCAACTG	0.537																																						dbGAP											0													118.0	129.0	126.0					12																	81111320		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.478A>C	12.37:g.81111320A>C	ENSP00000228644:p.Thr160Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ISR9	Missense_Mutation	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T160P	ENST00000228644.3	37	c.478	CCDS9020.1	12	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336132	0.60963	.	.	ENSG00000111049	ENST00000228644	D	0.98474	-4.95	6.17	5.0	0.66597	Helix-loop-helix DNA-binding (1);	0.252580	0.43579	D	0.000552	D	0.97794	0.9276	M	0.73962	2.25	0.41845	D	0.990143	D	0.54397	0.966	P	0.55303	0.773	D	0.96109	0.9075	10	0.21014	T	0.42	-9.4782	7.8384	0.29384	0.8094:0.0:0.0661:0.1245	.	160	P13349	MYF5_HUMAN	P	160	ENSP00000228644:T160P	ENSP00000228644:T160P	T	+	1	0	MYF5	79635451	0.994000	0.37717	1.000000	0.80357	0.984000	0.73092	2.371000	0.44248	1.105000	0.41606	0.533000	0.62120	ACC	MYF5	-	pfam_Myf5,superfamily_HLH_DNA-bd	ENSG00000111049		0.537	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	154	0.65	1	A	NM_005593		81111320	81111320	+1	no_errors	ENST00000228644	ensembl	human	known	69_37n	missense	165	14.43	28	SNP	1.000	C
MYH1	4619	genome.wustl.edu	37	17	10398333	10398333	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:10398333A>C	ENST00000226207.5	-	37	5475	c.5381T>G	c.(5380-5382)gTg>gGg	p.V1794G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGGTCCTTCACCGTCTGTTC	0.557																																						dbGAP											0													151.0	145.0	147.0					17																	10398333		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5381T>G	17.37:g.10398333A>C	ENSP00000226207:p.Val1794Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1794G	ENST00000226207.5	37	c.5381	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531692	0.85706	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.38897	U	0.001530	D	0.90068	0.6898	H	0.94925	3.6	0.80722	D	1	P	0.50272	0.933	P	0.58928	0.848	D	0.92808	0.6262	10	0.87932	D	0	.	15.4634	0.75377	1.0:0.0:0.0:0.0	.	1794	P12882	MYH1_HUMAN	G	1794	ENSP00000226207:V1794G	ENSP00000226207:V1794G	V	-	2	0	MYH1	10339058	0.997000	0.39634	1.000000	0.80357	0.903000	0.53119	9.283000	0.95860	2.114000	0.64651	0.459000	0.35465	GTG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	294	0.68	2	A	NM_005963		10398333	10398333	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	missense	157	10.29	18	SNP	1.000	C
MYH11	4629	genome.wustl.edu	37	16	15931904	15931904	+	Missense_Mutation	SNP	A	A	C	rs538460777		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:15931904A>C	ENST00000300036.5	-	2	315	c.206T>G	c.(205-207)gTc>gGc	p.V69G	MYH11_ENST00000452625.2_Missense_Mutation_p.V69G|MYH11_ENST00000396324.3_Missense_Mutation_p.V69G|MYH11_ENST00000576790.2_Missense_Mutation_p.V69G	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	69					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCAACCGTGACCTTCTTGCC	0.577			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													315.0	267.0	283.0					16																	15931904		2197	4300	6497	-	-	-	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.206T>G	16.37:g.15931904A>C	ENSP00000300036:p.Val69Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V69G	ENST00000300036.5	37	c.206	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008810	0.75046	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.84	5.84	0.93424	Myosin, N-terminal, SH3-like (1);	0.536775	0.18753	N	0.132139	D	0.92466	0.7608	M	0.91612	3.225	0.80722	D	1	B;B;B;B;B	0.33379	0.388;0.07;0.07;0.41;0.07	B;B;B;B;P	0.47744	0.209;0.094;0.094;0.358;0.556	D	0.92818	0.6270	10	0.87932	D	0	.	15.3919	0.74751	1.0:0.0:0.0:0.0	.	69;69;69;69;69	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	G	69	ENSP00000300036:V69G;ENSP00000345136:V69G;ENSP00000379616:V69G;ENSP00000407821:V69G	ENSP00000300036:V69G	V	-	2	0	MYH11	15839405	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	6.219000	0.72231	2.232000	0.73038	0.533000	0.62120	GTC	MYH11	-	pfam_Myosin_N	ENSG00000133392		0.577	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	151	0.00	0	A	NM_001040113		15931904	15931904	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	missense	149	15.34	27	SNP	0.995	C
MYH13	8735	genome.wustl.edu	37	17	10248920	10248920	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:10248920A>C	ENST00000418404.3	-	13	1440	c.1277T>G	c.(1276-1278)gTg>gGg	p.V426G	MYH13_ENST00000252172.4_Missense_Mutation_p.V426G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	426	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGAGCACCCACCGAATTGGT	0.483																																						dbGAP											0													152.0	143.0	146.0					17																	10248920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1277T>G	17.37:g.10248920A>C	ENSP00000404570:p.Val426Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.V426G	ENST00000418404.3	37	c.1277	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038515	0.75617	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.72615	-0.67	4.33	4.33	0.51752	Myosin head, motor domain (2);	.	.	.	.	D	0.90844	0.7124	H	0.97611	4.04	0.80722	D	1	P	0.35575	0.51	D	0.77004	0.989	D	0.92464	0.5980	9	0.87932	D	0	.	13.9543	0.64137	1.0:0.0:0.0:0.0	.	426	Q9UKX3	MYH13_HUMAN	G	426;101	ENSP00000252172:V426G	ENSP00000252172:V426G	V	-	2	0	MYH13	10189645	0.998000	0.40836	0.987000	0.45799	0.989000	0.77384	8.945000	0.92985	1.946000	0.56461	0.459000	0.35465	GTG	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000006788		0.483	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	207	0.00	0	A	NM_003802		10248920	10248920	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	missense	202	12.82	30	SNP	1.000	C
MYH15	22989	genome.wustl.edu	37	3	108117629	108117629	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:108117629A>C	ENST00000273353.3	-	36	5104	c.5048T>G	c.(5047-5049)gTg>gGg	p.V1683G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1683						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGCCACAGCCACCTGCTCCTT	0.537																																						dbGAP											0													158.0	163.0	161.0					3																	108117629		2101	4226	6327	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5048T>G	3.37:g.108117629A>C	ENSP00000273353:p.Val1683Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.V1683G	ENST00000273353.3	37	c.5048	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	A	10.03	1.237891	0.22711	.	.	ENSG00000144821	ENST00000273353	D	0.83506	-1.73	5.72	4.56	0.56223	Myosin tail (1);	.	.	.	.	T	0.79112	0.4391	L	0.58428	1.81	0.44477	D	0.997415	B	0.12013	0.005	B	0.20384	0.029	T	0.74526	-0.3636	9	0.59425	D	0.04	.	8.6746	0.34172	0.8543:0.0:0.1457:0.0	.	1683	Q9Y2K3	MYH15_HUMAN	G	1683	ENSP00000273353:V1683G	ENSP00000273353:V1683G	V	-	2	0	MYH15	109600319	0.311000	0.24536	0.810000	0.32431	0.331000	0.28603	1.760000	0.38430	1.006000	0.39211	0.533000	0.62120	GTG	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.537	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	293	0.00	0	A	XM_036988		108117629	108117629	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	225	14.34	38	SNP	0.819	C
MYH4	4622	genome.wustl.edu	37	17	10368808	10368808	+	Silent	SNP	T	T	G	rs545809821		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:10368808T>G	ENST00000255381.2	-	5	566	c.456A>C	c.(454-456)ccA>ccC	p.P152P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	152	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGATATGGGGTGGGGCCTCCT	0.502																																						dbGAP											0													159.0	166.0	164.0					17																	10368808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.456A>C	17.37:g.10368808T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P152	ENST00000255381.2	37	c.456	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000264424		0.502	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	203	0.00	0	T	NM_017533		10368808	10368808	-1	no_errors	ENST00000255381	ensembl	human	known	69_37n	silent	206	13.39	32	SNP	0.738	G
MYH7	4625	genome.wustl.edu	37	14	23901706	23901706	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:23901706T>G	ENST00000355349.3	-	6	674	c.512A>C	c.(511-513)aAc>aCc	p.N171T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	171	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATGGACTGGTTTTCTCTGTC	0.597																																						dbGAP											0													202.0	178.0	186.0					14																	23901706		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.512A>C	14.37:g.23901706T>G	ENSP00000347507:p.Asn171Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N171T	ENST00000355349.3	37	c.512	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158366	0.78114	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.89746	-2.56	3.81	3.81	0.43845	Myosin head, motor domain (3);	.	.	.	.	D	0.96636	0.8902	H	0.98721	4.31	0.80722	D	1	D	0.64830	0.994	D	0.91635	0.999	D	0.97514	1.0068	9	0.87932	D	0	.	12.8781	0.58001	0.0:0.0:0.0:1.0	.	171	P12883	MYH7_HUMAN	T	171	ENSP00000347507:N171T	ENSP00000347507:N171T	N	-	2	0	MYH7	22971546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.053000	0.71089	1.503000	0.48686	0.379000	0.24179	AAC	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000092054		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	124	0.00	0	T	NM_000257		23901706	23901706	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	138	14.02	23	SNP	1.000	G
MYL6B	140465	genome.wustl.edu	37	12	56548626	56548626	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56548626T>G	ENST00000553066.1	+	3	624		c.e3+2		MYL6B_ENST00000207437.5_Splice_Site|MYL6B_ENST00000552568.1_Splice_Site|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Splice_Site|MYL6B_ENST00000550152.1_Splice_Site			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle						metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGCTGGAGGGTGAGGAGAAGC	0.512																																						dbGAP											0													208.0	206.0	206.0					12																	56548626		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.202+2T>G	12.37:g.56548626T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e2+2	ENST00000553066.1	37	c.202+2	CCDS8905.1	12	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084620	0.55861	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3171	0.49399	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYL6B	54834893	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.742000	0.74843	1.834000	0.53371	0.402000	0.26972	.	MYL6B	-	-	ENSG00000196465		0.512	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYL6B	HGNC	protein_coding	OTTHUMT00000407920.2	205	0.48	1	T	NM_002475	Intron	56548626	56548626	+1	no_errors	ENST00000207437	ensembl	human	known	69_37n	splice_site	201	15.90	38	SNP	1.000	G
MYL6	4637	genome.wustl.edu	37	12	56553408	56553408	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56553408T>G	ENST00000550697.1	+	3	310	c.69T>G	c.(67-69)ggT>ggG	p.G23G	MYL6_ENST00000348108.4_Silent_p.G24G|MYL6_ENST00000547408.1_Silent_p.G23G|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Silent_p.G23G|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_Silent_p.G23G|MYL6_ENST00000549017.1_Splice_Site|MYL6_ENST00000536128.1_Silent_p.G116G|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000293422.5_Silent_p.G24G|MYL6_ENST00000548400.1_Splice_Site|MYL6_ENST00000548293.1_Silent_p.G23G|RP11-977G19.5_ENST00000553176.1_RNA	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ACCGAACAGGTGATGGCAAGA	0.542																																						dbGAP											0													132.0	124.0	127.0					12																	56553408		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.69T>G	12.37:g.56553408T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Splice_Site	SNP	-	NULL	ENST00000550697.1	37	c.NULL	CCDS8906.1	12	.	.	.	.	.	.	.	.	.	.	T	10.22	1.290879	0.23564	.	.	ENSG00000092841	ENST00000548400	.	.	.	4.68	-7.46	0.01369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5246	0.56079	0.0:0.2128:0.59:0.1972	.	.	.	.	.	-1	.	.	.	+	.	.	MYL6	54839675	0.000000	0.05858	0.905000	0.35620	0.982000	0.71751	-3.447000	0.00467	-1.158000	0.02811	-0.460000	0.05396	.	MYL6	-	-	ENSG00000092841		0.542	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	HGNC	protein_coding	OTTHUMT00000407928.3	160	0.62	1	T			56553408	56553408	+1	no_errors	ENST00000552297	ensembl	human	known	69_37n	splice_site	169	10.99	21	SNP	0.080	G
MYLK	4638	genome.wustl.edu	37	3	123419403	123419403	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:123419403A>C	ENST00000475616.1	-	15	2911	c.2912T>G	c.(2911-2913)gTg>gGg	p.V971G	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.V971G|MYLK_ENST00000346322.5_Missense_Mutation_p.V902G|MYLK_ENST00000360772.3_Missense_Mutation_p.V971G|MYLK_ENST00000359169.1_Missense_Mutation_p.V971G			Q15746	MYLK_HUMAN	myosin light chain kinase	971	5 X 28 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGCGGTGGCACCTTCTCAGG	0.582																																						dbGAP											0													46.0	46.0	46.0					3																	123419403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2912T>G	3.37:g.123419403A>C	ENSP00000418335:p.Val971Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V971G	ENST00000475616.1	37	c.2912	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	A	8.536	0.872181	0.17322	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67523	-0.27;-0.22;-0.27;-0.21;-0.22	4.63	-2.69	0.06022	.	.	.	.	.	T	0.44052	0.1275	N	0.22421	0.69	0.31546	N	0.659287	B;B;B;B;B;B	0.28055	0.052;0.089;0.089;0.199;0.052;0.031	B;B;B;B;B;B	0.26969	0.047;0.029;0.075;0.047;0.047;0.021	T	0.41805	-0.9488	9	0.72032	D	0.01	.	2.347	0.04274	0.4004:0.1236:0.3538:0.1222	.	971;49;902;971;902;971	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	G	971;971;971;902;971	ENSP00000354004:V971G;ENSP00000353452:V971G;ENSP00000352088:V971G;ENSP00000320622:V902G;ENSP00000418335:V971G	ENSP00000320622:V902G	V	-	2	0	MYLK	124902093	0.000000	0.05858	0.123000	0.21794	0.792000	0.44763	-0.795000	0.04580	-0.318000	0.08665	0.454000	0.30748	GTG	MYLK	-	NULL	ENSG00000065534		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	69	0.00	0	A	NM_053025		123419403	123419403	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.005	C
MYLK3	91807	genome.wustl.edu	37	16	46744613	46744613	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:46744613T>G	ENST00000394809.4	-	11	2318	c.2203A>C	c.(2203-2205)Acc>Ccc	p.T735P	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.T394P	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTTCAAAGGTGTCAGCATCA	0.478																																						dbGAP											0													146.0	152.0	150.0					16																	46744613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2203A>C	16.37:g.46744613T>G	ENSP00000378288:p.Thr735Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	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,pfscan_Prot_kinase_cat_dom	p.T735P	ENST00000394809.4	37	c.2203	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743795	0.49151	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.66099	-0.19;-0.19	6.03	0.945	0.19543	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.465762	0.16008	N	0.233953	T	0.37544	0.1007	N	0.10874	0.06	0.22675	N	0.998866	B	0.18741	0.03	B	0.25759	0.063	T	0.24297	-1.0164	10	0.52906	T	0.07	.	3.7494	0.08561	0.544:0.2305:0.0:0.2255	.	735	Q32MK0	MYLK3_HUMAN	P	735;394	ENSP00000378288:T735P;ENSP00000439297:T394P	ENSP00000378288:T735P	T	-	1	0	MYLK3	45302114	0.874000	0.30092	0.505000	0.27651	0.997000	0.91878	1.572000	0.36461	0.117000	0.18138	0.533000	0.62120	ACC	MYLK3	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000140795		0.478	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	246	0.40	1	T	NM_182493		46744613	46744613	-1	no_errors	ENST00000394809	ensembl	human	known	69_37n	missense	200	10.67	24	SNP	0.429	G
MYLK3	91807	genome.wustl.edu	37	16	46774003	46774003	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:46774003A>C	ENST00000394809.4	-	2	649	c.534T>G	c.(532-534)agT>agG	p.S178R	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	178					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACTGCACCCCACTGGTGCTCA	0.448																																						dbGAP											0													204.0	179.0	187.0					16																	46774003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.534T>G	16.37:g.46774003A>C	ENSP00000378288:p.Ser178Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	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,pfscan_Prot_kinase_cat_dom	p.S178R	ENST00000394809.4	37	c.534	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	A	1.824	-0.471412	0.04445	.	.	ENSG00000140795	ENST00000394809	T	0.61392	0.11	5.58	-5.76	0.02376	.	0.404540	0.18219	N	0.147948	T	0.11110	0.0271	N	0.00170	-1.935	0.27261	N	0.958622	B	0.02656	0.0	B	0.01281	0.0	T	0.47262	-0.9131	10	0.05833	T	0.94	.	6.0642	0.19854	0.1982:0.367:0.0:0.4348	.	178	Q32MK0	MYLK3_HUMAN	R	178	ENSP00000378288:S178R	ENSP00000378288:S178R	S	-	3	2	MYLK3	45331504	0.010000	0.17322	0.006000	0.13384	0.003000	0.03518	0.247000	0.18179	-0.580000	0.05944	-1.400000	0.01143	AGT	MYLK3	-	NULL	ENSG00000140795		0.448	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	76	0.00	0	A	NM_182493		46774003	46774003	-1	no_errors	ENST00000394809	ensembl	human	known	69_37n	missense	97	17.09	20	SNP	0.066	C
MYNN	55892	genome.wustl.edu	37	3	169500290	169500290	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:169500290T>G	ENST00000349841.5	+	5	1921	c.1258T>G	c.(1258-1260)Tgt>Ggt	p.C420G	MYNN_ENST00000392733.1_Missense_Mutation_p.C420G|MYNN_ENST00000544106.1_Missense_Mutation_p.C420G|MYNN_ENST00000356716.4_Missense_Mutation_p.C420G|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTGTGATAGGTGTGGACAGAG	0.408																																						dbGAP											0													200.0	174.0	183.0					3																	169500290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1258T>G	3.37:g.169500290T>G	ENSP00000326240:p.Cys420Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C420G	ENST00000349841.5	37	c.1258	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851553	0.71719	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	H	0.94847	3.59	0.80722	D	1	B;D	0.71674	0.081;0.998	B;D	0.85130	0.092;0.997	D	0.95903	0.8917	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	420;420	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	G	420	ENSP00000349150:C420G;ENSP00000326240:C420G;ENSP00000376492:C420G;ENSP00000440637:C420G	ENSP00000326240:C420G	C	+	1	0	MYNN	170982984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.279000	0.76181	0.459000	0.35465	TGT	MYNN	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085274		0.408	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	143	0.00	0	T	NM_018657		169500290	169500290	+1	no_errors	ENST00000349841	ensembl	human	known	69_37n	missense	169	17.16	35	SNP	1.000	G
TIAF1	9220	genome.wustl.edu	37	17	27401710	27401710	+	5'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:27401710T>G	ENST00000359450.6	-	0	4165				MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_5'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1						apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGAGACCGGTGCCCCACCAC	0.627																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.-493A>C	17.37:g.27401710T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRE2|Q6PEG2	RNA	SNP	-	NULL	ENST00000359450.6	37	NULL	CCDS32599.1	17																																																																																			MYO18A	-	-	ENSG00000196535		0.627	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000372394.2	28	0.00	0	T	NM_004740		27401710	27401710	-1	no_errors	ENST00000529578	ensembl	human	known	69_37n	rna	34	28.57	14	SNP	0.001	G
MYO19	80179	genome.wustl.edu	37	17	34883918	34883918	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:34883918A>C	ENST00000431794.3	-	4	650	c.128T>G	c.(127-129)gTg>gGg	p.V43G	MYO19_ENST00000268852.9_Missense_Mutation_p.V43G|MYO19_ENST00000586007.1_Missense_Mutation_p.V43G|MYO19_ENST00000544606.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	43	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACAGGATTCACCCTGGTGAG	0.557																																						dbGAP											0													79.0	83.0	82.0					17																	34883918		1944	4127	6071	-	-	-	SO:0001583	missense	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.128T>G	17.37:g.34883918A>C	ENSP00000409936:p.Val43Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.V43G	ENST00000431794.3	37	c.128	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442951	0.83993	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95482	-3.72;-3.72	5.46	5.46	0.80206	Myosin head, motor domain (2);	0.000000	0.38436	N	0.001698	D	0.97126	0.9061	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.79784	0.993;0.947;0.973	D	0.97705	1.0187	10	0.87932	D	0	.	14.8818	0.70540	1.0:0.0:0.0:0.0	.	43;43;43	Q96H55;Q96H55-2;Q96H55-4	MYO19_HUMAN;.;.	G	43	ENSP00000409936:V43G;ENSP00000268852:V43G	ENSP00000268852:V43G	V	-	2	0	MYO19	31958031	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.677000	0.91203	2.291000	0.77112	0.533000	0.62120	GTG	MYO19	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000141140		0.557	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	23	0.00	0	A	NM_025109		34883918	34883918	-1	no_errors	ENST00000431794	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	C
MYO1A	4640	genome.wustl.edu	37	12	57431419	57431419	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57431419A>C	ENST00000442789.2	-	20	2255	c.1968T>G	c.(1966-1968)ggT>ggG	p.G656G	MYO1A_ENST00000544473.1_Silent_p.G494G|MYO1A_ENST00000300119.3_Silent_p.G656G|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	656	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTCTCAACACCTTCCCTAT	0.512																																						dbGAP											0													169.0	172.0	171.0					12																	57431419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1968T>G	12.37:g.57431419A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQD7	Silent	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.G656	ENST00000442789.2	37	c.1968	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000166866		0.512	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	297	0.00	0	A	NM_005379		57431419	57431419	-1	no_errors	ENST00000300119	ensembl	human	known	69_37n	silent	247	18.63	57	SNP	0.806	C
MYO1D	4642	genome.wustl.edu	37	17	31039078	31039078	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:31039078T>G	ENST00000318217.5	-	16	2353	c.2049A>C	c.(2047-2049)acA>acC	p.T683T	MYO1D_ENST00000579584.1_Silent_p.T683T|MYO1D_ENST00000394649.4_Silent_p.T595T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	683	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATGTTCGGGGTGTTCGAATGA	0.378																																						dbGAP											0													205.0	201.0	202.0					17																	31039078		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2049A>C	17.37:g.31039078T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V3|Q8NHP9	Silent	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.T683	ENST00000318217.5	37	c.2049	CCDS32615.1	17																																																																																			MYO1D	-	smart_Myosin_head_motor_dom	ENSG00000176658		0.378	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	486	0.20	1	T			31039078	31039078	-1	no_errors	ENST00000318217	ensembl	human	known	69_37n	silent	397	12.66	58	SNP	0.996	G
MYO1E	4643	genome.wustl.edu	37	15	59500992	59500992	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:59500992A>C	ENST00000288235.4	-	14	1817	c.1418T>G	c.(1417-1419)gTg>gGg	p.V473G		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	473	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)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCCCTCACCCACCGCATGCAT	0.537																																						dbGAP											0													149.0	124.0	133.0					15																	59500992		2191	4290	6481	-	-	-	SO:0001583	missense	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1418T>G	15.37:g.59500992A>C	ENSP00000288235:p.Val473Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.V473G	ENST00000288235.4	37	c.1418	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927719	0.34002	.	.	ENSG00000157483	ENST00000288235	D	0.86694	-2.16	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.119081	0.64402	D	0.000020	D	0.83344	0.5234	L	0.48642	1.525	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.78476	-0.2189	10	0.23891	T	0.37	.	15.6781	0.77344	1.0:0.0:0.0:0.0	.	473	Q12965	MYO1E_HUMAN	G	473	ENSP00000288235:V473G	ENSP00000288235:V473G	V	-	2	0	MYO1E	57288284	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.550000	0.67268	2.163000	0.67991	0.459000	0.35465	GTG	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000157483		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	99	1.00	1	A	NM_004998		59500992	59500992	-1	no_errors	ENST00000288235	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	1.000	C
MYO3A	53904	genome.wustl.edu	37	10	26312957	26312957	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:26312957A>C	ENST00000265944.5	+	9	904	c.738A>C	c.(736-738)ccA>ccC	p.P246P	MYO3A_ENST00000543632.1_Silent_p.P246P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTAGGAATCCACCCCCAAAAC	0.383																																						dbGAP											0													133.0	136.0	135.0					10																	26312957		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.738A>C	10.37:g.26312957A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.P246	ENST00000265944.5	37	c.738	CCDS7148.1	10																																																																																			MYO3A	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000095777		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	260	0.00	0	A	NM_017433		26312957	26312957	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	silent	199	14.53	34	SNP	0.998	C
MYO3A	53904	genome.wustl.edu	37	10	26455048	26455048	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:26455048A>C	ENST00000265944.5	+	27	3218	c.3052A>C	c.(3052-3054)Acc>Ccc	p.T1018P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1018	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGCCCTGACACCTGTGCCAC	0.418																																						dbGAP											0													151.0	162.0	158.0					10																	26455048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3052A>C	10.37:g.26455048A>C	ENSP00000265944:p.Thr1018Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.T1018P	ENST00000265944.5	37	c.3052	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697224	0.88830	.	.	ENSG00000095777	ENST00000265944	T	0.72282	-0.64	6.07	6.07	0.98685	Myosin head, motor domain (2);	0.092317	0.85682	D	0.000000	T	0.81226	0.4778	M	0.76002	2.32	0.80722	D	1	P	0.50272	0.933	P	0.60609	0.877	T	0.82659	-0.0348	10	0.59425	D	0.04	.	11.6754	0.51427	0.8678:0.0:0.0:0.1321	.	1018	Q8NEV4	MYO3A_HUMAN	P	1018	ENSP00000265944:T1018P	ENSP00000265944:T1018P	T	+	1	0	MYO3A	26495054	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.215000	0.51169	2.330000	0.79161	0.528000	0.53228	ACC	MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000095777		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	485	0.41	2	A	NM_017433		26455048	26455048	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	477	12.75	70	SNP	1.000	C
MYO5B	4645	genome.wustl.edu	37	18	47438542	47438542	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:47438542A>C	ENST00000285039.7	-	18	2391	c.2092T>G	c.(2092-2094)Tgg>Ggg	p.W698G		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	698	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGTAGGCCCACCTGGAGGGA	0.547																																						dbGAP											0													113.0	112.0	112.0					18																	47438542		1981	4174	6155	-	-	-	SO:0001630	splice_region_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2091-1T>G	18.37:g.47438542A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.W698G	ENST00000285039.7	37	c.2092	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534803	0.85812	.	.	ENSG00000167306	ENST00000285039	D	0.87179	-2.22	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.286508	0.36519	N	0.002543	D	0.89563	0.6751	M	0.88310	2.945	0.80722	D	1	B	0.21821	0.061	B	0.24848	0.056	D	0.87824	0.2640	10	0.49607	T	0.09	.	15.3533	0.74405	1.0:0.0:0.0:0.0	.	698	Q9ULV0	MYO5B_HUMAN	G	698	ENSP00000285039:W698G	ENSP00000285039:W698G	W	-	1	0	MYO5B	45692540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.157000	0.94714	2.161000	0.67846	0.460000	0.39030	TGG	MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000167306		0.547	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	163	0.61	1	A		Missense_Mutation	47438542	47438542	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	138	13.58	22	SNP	1.000	C
MYO5B	4645	genome.wustl.edu	37	18	47479712	47479712	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:47479712A>C	ENST00000285039.7	-	14	1969	c.1670T>G	c.(1669-1671)gTg>gGg	p.V557G		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	557	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGGTACTCCACCTGGGGCCA	0.468																																						dbGAP											0													88.0	85.0	86.0					18																	47479712		1941	4138	6079	-	-	-	SO:0001630	splice_region_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1669-1T>G	18.37:g.47479712A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V557G	ENST00000285039.7	37	c.1670	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481030	0.84747	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.98345	-4.88	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.984	D	0.97725	1.0199	10	0.87932	D	0	.	14.6684	0.68926	1.0:0.0:0.0:0.0	.	556;557	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	G	557;556	ENSP00000285039:V557G	ENSP00000285039:V557G	V	-	2	0	MYO5B	45733710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.912000	0.92726	2.002000	0.58637	0.533000	0.62120	GTG	MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000167306		0.468	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	137	0.00	0	A		Missense_Mutation	47479712	47479712	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	62	18.42	14	SNP	1.000	C
MYO6	4646	genome.wustl.edu	37	6	76623917	76623917	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:76623917T>G	ENST00000369977.3	+	34	3716	c.3577T>G	c.(3577-3579)Tgg>Ggg	p.W1193G	MYO6_ENST00000369975.1_Missense_Mutation_p.W1161G|MYO6_ENST00000369985.4_Missense_Mutation_p.W1170G|MYO6_ENST00000369981.3_Missense_Mutation_p.W1194G	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1202					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAAGGCTGGTGGTATGCCCA	0.517																																						dbGAP											0													149.0	151.0	150.0					6																	76623917		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3577T>G	6.37:g.76623917T>G	ENSP00000358994:p.Trp1193Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.W1194G	ENST00000369977.3	37	c.3580	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560194	0.65538	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.93019	-3.15;-3.08;-3.07;-3.03	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.91635	0.969;0.999	D	0.97360	0.9969	10	0.87932	D	0	.	15.9365	0.79712	0.0:0.0:0.0:1.0	.	1170;1193	Q9UM54-2;Q9UM54-1	.;.	G	1203;1194;1170;1193;1161	ENSP00000358998:W1194G;ENSP00000359002:W1170G;ENSP00000358994:W1193G;ENSP00000358992:W1161G	ENSP00000358992:W1161G	W	+	1	0	MYO6	76680637	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.672000	0.83956	2.158000	0.67659	0.533000	0.62120	TGG	MYO6	-	NULL	ENSG00000196586		0.517	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	230	0.43	1	T	NM_004999		76623917	76623917	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	missense	204	13.14	31	SNP	1.000	G
MYO6	4646	genome.wustl.edu	37	6	76624691	76624691	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:76624691A>C	ENST00000369977.3	+	35	3959	c.3820A>C	c.(3820-3822)Acc>Ccc	p.T1274P	MYO6_ENST00000369975.1_Missense_Mutation_p.T1242P|MYO6_ENST00000369985.4_Missense_Mutation_p.T1251P|MYO6_ENST00000369981.3_Missense_Mutation_p.T1275P	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1283					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGCTCGGCCCACCTATGCAAC	0.522																																						dbGAP											0													57.0	52.0	53.0					6																	76624691		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3820A>C	6.37:g.76624691A>C	ENSP00000358994:p.Thr1274Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.T1275P	ENST00000369977.3	37	c.3823	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370816	0.61624	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.90385	-2.59;-2.64;-2.59;-2.66	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.94487	0.7698	10	0.87932	D	0	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	1251;1274	Q9UM54-2;Q9UM54-1	.;.	P	1284;1275;1251;1274;1242	ENSP00000358998:T1275P;ENSP00000359002:T1251P;ENSP00000358994:T1274P;ENSP00000358992:T1242P	ENSP00000358992:T1242P	T	+	1	0	MYO6	76681411	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	8.935000	0.92923	2.281000	0.76405	0.533000	0.62120	ACC	MYO6	-	NULL	ENSG00000196586		0.522	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	46	0.00	0	A	NM_004999		76624691	76624691	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	1.000	C
MYO7B	4648	genome.wustl.edu	37	2	128378020	128378020	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:128378020A>C	ENST00000409816.2	+	25	3458	c.3426A>C	c.(3424-3426)ccA>ccC	p.P1142P	MYO7B_ENST00000409090.1_5'UTR|MYO7B_ENST00000389524.4_Silent_p.P1142P|MYO7B_ENST00000428314.1_Silent_p.P1142P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1142	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGCTTCCCACCCTCAGAGA	0.622																																						dbGAP											0													29.0	31.0	30.0					2																	128378020		1828	4081	5909	-	-	-	SO:0001819	synonymous_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3426A>C	2.37:g.128378020A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.P1142	ENST00000409816.2	37	c.3426	CCDS46405.1	2																																																																																			MYO7B	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000169994		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	34	0.00	0	A	XM_291001		128378020	128378020	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	silent	63	21.25	17	SNP	0.929	C
MYOCD	93649	genome.wustl.edu	37	17	12666869	12666869	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:12666869A>C	ENST00000343344.4	+	13	2725	c.2725A>C	c.(2725-2727)Acc>Ccc	p.T909P	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.T957P			Q8IZQ8	MYCD_HUMAN	myocardin	909					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCCCTCACCACCAGCAGCCC	0.517																																						dbGAP											0													61.0	56.0	57.0					17																	12666869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2725A>C	17.37:g.12666869A>C	ENSP00000341835:p.Thr909Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.T957P	ENST00000343344.4	37	c.2869	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	A	6.295	0.422531	0.11928	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.45668	0.89;0.93	6.08	1.05	0.20165	.	0.484707	0.24566	N	0.037429	T	0.21590	0.0520	N	0.20807	0.61	0.80722	D	1	B;B;B	0.15141	0.007;0.012;0.0	B;B;B	0.13407	0.004;0.009;0.001	T	0.06427	-1.0827	10	0.49607	T	0.09	-19.6153	2.0624	0.03595	0.5556:0.1301:0.1801:0.1342	.	633;957;909	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	P	633;957;909;619	ENSP00000341835:T909P;ENSP00000400148:T619P	ENSP00000341835:T909P	T	+	1	0	MYOCD	12607594	0.129000	0.22400	0.634000	0.29324	0.066000	0.16364	0.851000	0.27751	0.154000	0.19237	0.533000	0.62120	ACC	MYOCD	-	NULL	ENSG00000141052		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	119	0.00	0	A	NM_153604		12666869	12666869	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	missense	128	11.11	16	SNP	0.446	C
MYOF	26509	genome.wustl.edu	37	10	95115412	95115412	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:95115412T>G	ENST00000359263.4	-	31	3375	c.3376A>C	c.(3376-3378)Acc>Ccc	p.T1126P	MYOF_ENST00000358334.5_Missense_Mutation_p.T1113P|MYOF_ENST00000371502.4_Missense_Mutation_p.T1126P|MYOF_ENST00000371501.4_Missense_Mutation_p.T1126P	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1126	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACAATGGGGGTGTTTGCTCCG	0.418																																						dbGAP											0													167.0	160.0	162.0					10																	95115412		1854	4092	5946	-	-	-	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3376A>C	10.37:g.95115412T>G	ENSP00000352208:p.Thr1126Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.T1126P	ENST00000359263.4	37	c.3376	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261768	0.80358	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83837	-1.77;-1.77;-1.76;-1.76	5.93	5.93	0.95920	C2 membrane targeting protein (1);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	M	0.73598	2.24	0.80722	D	1	P;D	0.89917	0.941;1.0	P;D	0.74348	0.825;0.983	D	0.88718	0.3227	10	0.30078	T	0.28	-18.9485	16.3829	0.83481	0.0:0.0:0.0:1.0	.	1113;1126	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	P	1113;1126;1126;1126	ENSP00000351094:T1113P;ENSP00000352208:T1126P;ENSP00000360556:T1126P;ENSP00000360557:T1126P	ENSP00000351094:T1113P	T	-	1	0	MYOF	95105402	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.621000	0.83083	2.271000	0.75665	0.459000	0.35465	ACC	MYOF	-	pfscan_C2_membr_targeting	ENSG00000138119		0.418	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	321	0.00	0	T	NM_013451		95115412	95115412	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	189	12.84	28	SNP	1.000	G
MYOZ2	51778	genome.wustl.edu	37	4	120079261	120079261	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:120079261A>C	ENST00000307128.5	+	4	544	c.331A>C	c.(331-333)Acc>Ccc	p.T111P		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCCTCCCAACACCCCAGATCC	0.453																																						dbGAP											0													151.0	143.0	146.0					4																	120079261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.331A>C	4.37:g.120079261A>C	ENSP00000306997:p.Thr111Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Calsarcin-bd	p.T111P	ENST00000307128.5	37	c.331	CCDS3711.1	4	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355464	0.61293	.	.	ENSG00000172399	ENST00000307128	T	0.67345	-0.26	5.55	4.29	0.51040	.	0.297586	0.39274	N	0.001414	T	0.59649	0.2209	L	0.46741	1.465	0.58432	D	0.999999	B	0.22746	0.074	B	0.24701	0.055	T	0.61955	-0.6956	10	0.62326	D	0.03	-15.4212	11.4794	0.50316	0.8655:0.0:0.0:0.1345	.	111	Q9NPC6	MYOZ2_HUMAN	P	111	ENSP00000306997:T111P	ENSP00000306997:T111P	T	+	1	0	MYOZ2	120298709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.002000	0.70693	2.108000	0.64289	0.533000	0.62120	ACC	MYOZ2	-	pfam_Calsarcin-bd	ENSG00000172399		0.453	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ2	HGNC	protein_coding	OTTHUMT00000256526.2	327	0.61	2	A			120079261	120079261	+1	no_errors	ENST00000307128	ensembl	human	known	69_37n	missense	310	14.60	53	SNP	1.000	C
MYPN	84665	genome.wustl.edu	37	10	69934372	69934372	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:69934372A>C	ENST00000358913.5	+	11	3011	c.2523A>C	c.(2521-2523)ccA>ccC	p.P841P	MYPN_ENST00000540630.1_Silent_p.P841P|MYPN_ENST00000354393.2_Silent_p.P566P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	841	Pro-rich.		P -> T (in CHM22; dbSNP:rs199476410). {ECO:0000269|PubMed:22286171}.		sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTGCCATCCCACCCACAAATG	0.522																																						dbGAP											0													96.0	92.0	93.0					10																	69934372		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2523A>C	10.37:g.69934372A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P841	ENST00000358913.5	37	c.2523	CCDS7275.1	10																																																																																			MYPN	-	NULL	ENSG00000138347		0.522	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	95	0.00	0	A	NM_032578		69934372	69934372	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	silent	63	25.00	21	SNP	0.979	C
MYRIP	25924	genome.wustl.edu	37	3	40223805	40223805	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:40223805A>C	ENST00000302541.6	+	9	1310	c.968A>C	c.(967-969)cAc>cCc	p.H323P	MYRIP_ENST00000425621.1_Missense_Mutation_p.H323P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.H136P|MYRIP_ENST00000444716.1_Missense_Mutation_p.H323P|MYRIP_ENST00000396217.3_Missense_Mutation_p.H234P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	323	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAAGGCCAACACCCGAGAGCA	0.547																																						dbGAP											0													85.0	77.0	80.0					3																	40223805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.968A>C	3.37:g.40223805A>C	ENSP00000301972:p.His323Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.H323P	ENST00000302541.6	37	c.968	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	A	9.590	1.125959	0.20959	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.15	-0.942	0.10398	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.348330	0.04812	N	0.435337	T	0.13329	0.0323	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.30621	-0.9972	9	.	.	.	.	6.0982	0.20033	0.3894:0.1696:0.441:0.0	.	234;323;323	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	P	323;323;323;234;136	ENSP00000398665:H323P;ENSP00000301972:H323P;ENSP00000389323:H323P;ENSP00000379519:H234P;ENSP00000438297:H136P	.	H	+	2	0	MYRIP	40198809	0.000000	0.05858	0.019000	0.16419	0.009000	0.06853	-0.609000	0.05635	-0.419000	0.07439	0.533000	0.62120	CAC	MYRIP	-	pfam_Myelin-assoc_OBP	ENSG00000170011		0.547	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	105	0.00	0	A	NM_015460		40223805	40223805	+1	no_errors	ENST00000302541	ensembl	human	known	69_37n	missense	63	28.41	25	SNP	0.007	C
N6AMT1	29104	genome.wustl.edu	37	21	30255357	30255357	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:30255357A>C	ENST00000303775.5	-	2	196	c.171T>G	c.(169-171)ggT>ggG	p.G57G	N6AMT1_ENST00000351429.3_Silent_p.G57G	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	57	S-adenosyl-L-methionine binding. {ECO:0000250}.				positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CAGATACTACACCAGACCCTG	0.358																																						dbGAP											0													97.0	87.0	91.0					21																	30255357		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.171T>G	21.37:g.30255357A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96F73	Silent	SNP	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch	p.G57	ENST00000303775.5	37	c.171	CCDS33526.1	21																																																																																			N6AMT1	-	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch	ENSG00000156239		0.358	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	HGNC	protein_coding	OTTHUMT00000171738.1	207	0.00	0	A	NM_013240		30255357	30255357	-1	no_errors	ENST00000303775	ensembl	human	known	69_37n	silent	166	13.47	26	SNP	0.434	C
NABP2	79035	genome.wustl.edu	37	12	56619453	56619453	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56619453T>G	ENST00000380198.2	+	3	762	c.264T>G	c.(262-264)cgT>cgG	p.R88R	NABP2_ENST00000267023.4_Silent_p.R88R|NABP2_ENST00000341463.5_Silent_p.R88R			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	88					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										ATACTGGCCGTGGGGGTGATC	0.473																																						dbGAP											0													178.0	169.0	172.0					12																	56619453		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.264T>G	12.37:g.56619453T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF8|Q6XYC8	Silent	SNP	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like	p.R88	ENST00000380198.2	37	c.264	CCDS8911.1	12																																																																																			NABP2	-	superfamily_NA-bd_OB-fold-like	ENSG00000139579		0.473	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	HGNC	protein_coding	OTTHUMT00000326610.1	114	0.87	1	T	NM_024068		56619453	56619453	+1	no_errors	ENST00000267023	ensembl	human	known	69_37n	silent	133	13.07	20	SNP	1.000	G
NAB2	4665	genome.wustl.edu	37	12	57485520	57485520	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57485520T>G	ENST00000300131.3	+	2	1074	c.696T>G	c.(694-696)ggT>ggG	p.G232G	NAB2_ENST00000342556.6_Silent_p.G232G|NAB2_ENST00000357680.4_Silent_p.G232G|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	232					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGACTGGGGGTGGTCCAGACC	0.667																																						dbGAP											0													53.0	61.0	58.0					12																	57485520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.696T>G	12.37:g.57485520T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK3|O76006|Q14797	Silent	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.G232	ENST00000300131.3	37	c.696	CCDS8930.1	12																																																																																			NAB2	-	pfam_NAB_co-repressor_dom	ENSG00000166886		0.667	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	40	0.00	0	T	NM_005967		57485520	57485520	+1	no_errors	ENST00000300131	ensembl	human	known	69_37n	silent	20	41.18	14	SNP	1.000	G
NALCN	259232	genome.wustl.edu	37	13	101742234	101742234	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:101742234A>C	ENST00000251127.6	-	29	3434	c.3353T>G	c.(3352-3354)gTg>gGg	p.V1118G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1118					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCACTTCCACCCAGCCTTT	0.448																																						dbGAP											0													249.0	258.0	255.0					13																	101742234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3353T>G	13.37:g.101742234A>C	ENSP00000251127:p.Val1118Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V1118G	ENST00000251127.6	37	c.3353	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723329	0.89298	.	.	ENSG00000102452	ENST00000251127	D	0.92805	-3.11	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	L	0.46157	1.445	0.80722	D	1	P	0.45986	0.87	P	0.51833	0.681	D	0.93370	0.6734	10	0.72032	D	0.01	.	15.8861	0.79251	1.0:0.0:0.0:0.0	.	1118	Q8IZF0	NALCN_HUMAN	G	1118	ENSP00000251127:V1118G	ENSP00000251127:V1118G	V	-	2	0	NALCN	100540235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.850000	0.92190	2.156000	0.67533	0.533000	0.62120	GTG	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.448	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	611	0.16	1	A	NM_052867		101742234	101742234	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	485	10.66	58	SNP	1.000	C
NALCN	259232	genome.wustl.edu	37	13	102051449	102051449	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:102051449A>C	ENST00000251127.6	-	2	110	c.29T>G	c.(28-30)gTg>gGg	p.V10G	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V10G|NALCN_ENST00000376200.5_Missense_Mutation_p.V10G	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	10					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGGCTTCCACCCTGGAACT	0.443																																						dbGAP											0													134.0	114.0	121.0					13																	102051449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.29T>G	13.37:g.102051449A>C	ENSP00000251127:p.Val10Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V10G	ENST00000251127.6	37	c.29	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304429	0.60305	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98512	-4.41;-4.97;-4.27	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93161	0.7822	N	0.00119	-2.075	0.80722	D	1	D;B	0.60160	0.987;0.002	D;B	0.69824	0.966;0.003	D	0.90917	0.4780	10	0.05833	T	0.94	.	15.9124	0.79482	1.0:0.0:0.0:0.0	.	10;10	F2Z323;Q8IZF0	.;NALCN_HUMAN	G	10	ENSP00000251127:V10G;ENSP00000365367:V10G;ENSP00000365373:V10G	ENSP00000251127:V10G	V	-	2	0	NALCN	100849450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.164000	0.68074	0.460000	0.39030	GTG	NALCN	-	NULL	ENSG00000102452		0.443	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	161	0.00	0	A	NM_052867		102051449	102051449	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	127	14.19	21	SNP	1.000	C
NANOS3	342977	genome.wustl.edu	37	19	13991312	13991312	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:13991312A>C	ENST00000397555.2	+	3	517	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	NANOS3_ENST00000591727.1_3'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.T192P	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	173					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CTCCATGTCCACCTAGGAGGC	0.622											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													80.0	84.0	83.0					19																	13991312		2017	4170	6187	-	-	-	SO:0001583	missense	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.517A>C	19.37:g.13991312A>C	ENSP00000380687:p.Thr173Pro	Somatic	691	WXS	Illumina GAIIx	Phase_IV	Q495E5	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.T192P	ENST00000397555.2	37	c.574		19	.	.	.	.	.	.	.	.	.	.	A	9.038	0.988860	0.18966	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.46063	0.88;0.9	3.55	-1.88	0.07713	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.09310	N	0.999999	P	0.40476	0.718	B	0.41174	0.349	T	0.29305	-1.0016	8	0.87932	D	0	-3.2357	7.235	0.26064	0.6756:0.0:0.3244:0.0	.	192	P60323-2	.	P	192;173	ENSP00000341992:T192P;ENSP00000380687:T173P	ENSP00000341992:T192P	T	+	1	0	NANOS3	13852312	0.144000	0.22641	0.052000	0.19188	0.111000	0.19643	0.099000	0.15210	-0.278000	0.09180	0.459000	0.35465	ACC	NANOS3	-	NULL	ENSG00000187556		0.622	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	NANOS3	HGNC	protein_coding		21	0.00	0	A	XM_292819		13991312	13991312	+1	no_errors	ENST00000339133	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.056	C
NANP	140838	genome.wustl.edu	37	20	25597053	25597053	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:25597053A>C	ENST00000304788.3	-	2	481	c.255T>G	c.(253-255)ggT>ggG	p.G85G		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	85					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						TGGCTGCACCACCTTTTGTTT	0.378																																						dbGAP											0													63.0	64.0	64.0					20																	25597053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.255T>G	20.37:g.25597053A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1	p.G85	ENST00000304788.3	37	c.255	CCDS13173.1	20																																																																																			NANP	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7	ENSG00000170191		0.378	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	HGNC	protein_coding	OTTHUMT00000078457.2	59	0.00	0	A	NM_152667		25597053	25597053	-1	no_errors	ENST00000304788	ensembl	human	known	69_37n	silent	53	18.46	12	SNP	0.760	C
NAP1L2	4674	genome.wustl.edu	37	X	72434143	72434143	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:72434143A>C	ENST00000373517.3	-	1	541	c.186T>G	c.(184-186)ggT>ggG	p.G62G	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	62					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CAGTATCTTCACCGTTTTCCC	0.552																																						dbGAP											0													107.0	86.0	93.0					X																	72434143		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.186T>G	X.37:g.72434143A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE61|B4E161|Q8TAN6	Silent	SNP	pfam_NAP_family	p.G62	ENST00000373517.3	37	c.186	CCDS14423.1	X																																																																																			NAP1L2	-	NULL	ENSG00000186462		0.552	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1	205	0.97	2	A	NM_021963		72434143	72434143	-1	no_errors	ENST00000373517	ensembl	human	known	69_37n	silent	159	16.32	31	SNP	0.405	C
NAP1L3	4675	genome.wustl.edu	37	X	92927657	92927657	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:92927657A>C	ENST00000373079.3	-	1	910	c.647T>G	c.(646-648)gTg>gGg	p.V216G	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.V209G|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	216	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTCATCCTTCACCTCAGGAAT	0.413																																						dbGAP											0													102.0	106.0	105.0					X																	92927657		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.647T>G	X.37:g.92927657A>C	ENSP00000362171:p.Val216Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.V216G	ENST00000373079.3	37	c.647	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	A	7.625	0.677700	0.14841	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.26810	1.71	3.44	-0.321	0.12717	.	0.852017	0.09580	N	0.782980	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	0.999999	B	0.26744	0.158	B	0.26202	0.067	T	0.30149	-0.9988	10	0.48119	T	0.1	.	2.3104	0.04185	0.3686:0.0:0.2407:0.3907	.	216	Q99457	NP1L3_HUMAN	G	216;209	ENSP00000362171:V216G	ENSP00000362171:V216G	V	-	2	0	NAP1L3	92814313	0.000000	0.05858	0.006000	0.13384	0.312000	0.27988	-0.232000	0.09055	-0.154000	0.11118	-0.509000	0.04479	GTG	NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.413	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	269	0.00	0	A	NM_004538		92927657	92927657	-1	no_errors	ENST00000373079	ensembl	human	known	69_37n	missense	186	13.08	28	SNP	0.003	C
NAP1L5	266812	genome.wustl.edu	37	4	89618518	89618518	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:89618518A>C	ENST00000323061.5	-	1	868	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	130	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GTCCATGCACACCCCTCCATC	0.547																																						dbGAP											0													62.0	65.0	64.0					4																	89618518		2203	4300	6503	-	-	-	SO:0001583	missense	0			NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.388T>G	4.37:g.89618518A>C	ENSP00000320488:p.Cys130Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NAP_family	p.C130G	ENST00000323061.5	37	c.388	CCDS3632.1	4	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130303	0.37630	.	.	ENSG00000177432	ENST00000323061;ENST00000539293	T	0.42900	0.96	3.62	1.15	0.20763	.	.	.	.	.	T	0.45975	0.1369	M	0.69358	2.11	0.23174	N	0.998174	P	0.51791	0.948	P	0.51918	0.684	T	0.34304	-0.9834	9	0.59425	D	0.04	-2.2788	3.3301	0.07082	0.6267:0.2438:0.1295:0.0	.	130	Q96NT1	NP1L5_HUMAN	G	130	ENSP00000320488:C130G	ENSP00000320488:C130G	C	-	1	0	NAP1L5	89837541	0.970000	0.33590	0.940000	0.37924	0.979000	0.70002	1.792000	0.38754	0.556000	0.29098	0.467000	0.42956	TGT	NAP1L5	-	pfam_NAP_family	ENSG00000177432		0.547	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L5	HGNC	protein_coding	OTTHUMT00000253551.1	121	0.82	1	A	NM_153757		89618518	89618518	-1	no_errors	ENST00000323061	ensembl	human	known	69_37n	missense	110	20.29	28	SNP	0.631	C
NAV1	89796	genome.wustl.edu	37	1	201789054	201789054	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:201789054A>C	ENST00000367296.4	+	30	6048	c.5628A>C	c.(5626-5628)acA>acC	p.T1876T	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.T1868T|NAV1_ENST00000295624.6_Silent_p.T1873T|IPO9-AS1_ENST00000421159.1_RNA|NAV1_ENST00000367302.1_Silent_p.T1829T|NAV1_ENST00000367295.1_Silent_p.T1482T|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367300.3_Silent_p.T1816T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1876					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCAGGCAACACTTTAAGGGT	0.537																																						dbGAP											0													113.0	93.0	100.0					1																	201789054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5628A>C	1.37:g.201789054A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	smart_AAA+_ATPase	p.T1876	ENST00000367296.4	37	c.5628	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.537	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	141	0.00	0	A	NM_020443		201789054	201789054	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	silent	197	10.05	22	SNP	0.154	C
NAV2	89797	genome.wustl.edu	37	11	20089927	20089927	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:20089927A>C	ENST00000396087.3	+	24	5233	c.5134A>C	c.(5134-5136)Acc>Ccc	p.T1712P	NAV2_ENST00000349880.4_Missense_Mutation_p.T1656P|NAV2_ENST00000396085.1_Missense_Mutation_p.T1656P|NAV2_ENST00000540292.1_Missense_Mutation_p.T1643P|NAV2_ENST00000360655.4_Missense_Mutation_p.T1592P|NAV2_ENST00000533917.1_Missense_Mutation_p.T720P|NAV2_ENST00000527559.2_Missense_Mutation_p.T1641P|NAV2_ENST00000311043.8_Missense_Mutation_p.T720P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1712					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCTTTGACCACCCAGCTGAC	0.527																																						dbGAP											0													102.0	98.0	99.0					11																	20089927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5134A>C	11.37:g.20089927A>C	ENSP00000379396:p.Thr1712Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T1712P	ENST00000396087.3	37	c.5134	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450598	0.84101	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;D;D;D;D;D;T;T;T	0.94092	-1.18;-3.35;-3.35;-3.35;-3.35;-3.35;-1.18;-1.18;-1.18	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	D	0.94348	0.8183	L	0.39898	1.24	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.997;1.0;0.996;0.997;0.998;0.998	D;D;D;D;D;P	0.74348	0.917;0.983;0.919;0.94;0.964;0.907	D	0.93656	0.6977	9	.	.	.	.	13.6741	0.62443	1.0:0.0:0.0:0.0	.	1656;1712;720;705;1656;1592	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	P	1592;1656;1656;1712;1641;1643;720;705;720;705	ENSP00000353871:T1592P;ENSP00000379394:T1656P;ENSP00000309577:T1656P;ENSP00000379396:T1712P;ENSP00000435395:T1641P;ENSP00000443489:T1643P;ENSP00000437316:T720P;ENSP00000437136:T705P;ENSP00000312169:T720P	.	T	+	1	0	NAV2	20046503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.666000	0.74446	2.060000	0.61445	0.454000	0.30748	ACC	NAV2	-	NULL	ENSG00000166833		0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	245	0.41	1	A	NM_145117		20089927	20089927	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	missense	270	21.45	74	SNP	1.000	C
NAV3	89795	genome.wustl.edu	37	12	78401189	78401189	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:78401189A>C	ENST00000397909.2	+	8	2044	c.1871A>C	c.(1870-1872)cAc>cCc	p.H624P	NAV3_ENST00000266692.7_Missense_Mutation_p.H624P|NAV3_ENST00000228327.6_Missense_Mutation_p.H624P|NAV3_ENST00000536525.2_Missense_Mutation_p.H624P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	624						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAACATAGCCACCCGAATACC	0.488										HNSCC(70;0.22)																												dbGAP											0													124.0	123.0	123.0					12																	78401189		2080	4203	6283	-	-	-	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1871A>C	12.37:g.78401189A>C	ENSP00000381007:p.His624Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.H624P	ENST00000397909.2	37	c.1871		12	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618406	0.66787	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	4.84	4.84	0.62591	.	0.401290	0.17825	U	0.160740	T	0.39708	0.1088	M	0.61703	1.905	0.80722	D	1	D;D	0.69078	0.963;0.997	P;D	0.80764	0.603;0.994	T	0.21518	-1.0243	10	0.87932	D	0	-3.4356	14.4106	0.67113	1.0:0.0:0.0:0.0	.	624;624	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	P	624	ENSP00000446628:H624P;ENSP00000446132:H624P;ENSP00000381007:H624P;ENSP00000228327:H624P;ENSP00000266692:H624P	ENSP00000228327:H624P	H	+	2	0	NAV3	76925320	1.000000	0.71417	0.997000	0.53966	0.646000	0.38490	9.108000	0.94275	1.819000	0.53055	0.454000	0.30748	CAC	NAV3	-	NULL	ENSG00000067798		0.488	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	231	0.00	0	A	NM_001024383		78401189	78401189	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	missense	168	17.96	37	SNP	1.000	C
NBAS	51594	genome.wustl.edu	37	2	15506743	15506743	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:15506743T>G	ENST00000281513.5	-	32	3803	c.3778A>C	c.(3778-3780)Acc>Ccc	p.T1260P	NBAS_ENST00000441750.1_Missense_Mutation_p.T1140P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1260					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAAGCTTGGTGGATTGTTTA	0.438																																						dbGAP											0													115.0	104.0	108.0					2																	15506743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3778A>C	2.37:g.15506743T>G	ENSP00000281513:p.Thr1260Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.T1260P	ENST00000281513.5	37	c.3778	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	T	13.82	2.351102	0.41599	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.16073	2.37;2.37	4.58	1.67	0.24075	Secretory pathway Sec39 (1);	0.536026	0.22107	N	0.064529	T	0.11495	0.0280	N	0.08118	0	0.21325	N	0.999722	D;B	0.57257	0.979;0.213	P;B	0.49637	0.617;0.38	T	0.13255	-1.0516	10	0.87932	D	0	.	7.9823	0.30192	0.0:0.7032:0.0:0.2968	.	1140;1260	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	P	1140;1260	ENSP00000413201:T1140P;ENSP00000281513:T1260P	ENSP00000281513:T1260P	T	-	1	0	NBAS	15424194	0.015000	0.18098	0.202000	0.23494	0.845000	0.48019	0.031000	0.13710	0.107000	0.17824	-0.435000	0.05868	ACC	NBAS	-	pfam_Sec39	ENSG00000151779		0.438	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	151	0.00	0	T	NM_015909		15506743	15506743	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	missense	155	13.89	25	SNP	0.827	G
NBEAL2	23218	genome.wustl.edu	37	3	47045770	47045770	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:47045770A>C	ENST00000450053.3	+	37	6264	c.6085A>C	c.(6085-6087)Acc>Ccc	p.T2029P	NBEAL2_ENST00000383740.2_Missense_Mutation_p.T308P|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1845P	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2029					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCACCCCATACCCAGGTACG	0.642																																						dbGAP											0													91.0	94.0	93.0					3																	47045770		1967	4132	6099	-	-	-	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6085A>C	3.37:g.47045770A>C	ENSP00000415034:p.Thr2029Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T2029P	ENST00000450053.3	37	c.6085	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.70|10.70	1.425118|1.425118	0.25639|0.25639	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000443829	T;T;T|.	0.57436|.	0.41;0.99;0.4|.	4.98|4.98	3.75|3.75	0.43078|0.43078	.|.	0.669254|.	0.14825|.	N|.	0.296238|.	T|T	0.44623|0.44623	0.1302|0.1302	L|L	0.38175|0.38175	1.15|1.15	0.40896|0.40896	D|D	0.984117|0.984117	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.11329|.	0.006;0.003|.	T|T	0.37079|0.37079	-0.9721|-0.9721	10|5	0.27785|.	T|.	0.31|.	.|.	5.0541|5.0541	0.14524|0.14524	0.6354:0.1744:0.0:0.1902|0.6354:0.1744:0.0:0.1902	.|.	1845;2029|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	P|S	1845;308;2029|397	ENSP00000292309:T1845P;ENSP00000373246:T308P;ENSP00000415034:T2029P|.	ENSP00000292309:T1845P|.	T|Y	+|+	1|2	0|0	NBEAL2|NBEAL2	47020774|47020774	0.035000|0.035000	0.19736|0.19736	0.999000|0.999000	0.59377|0.59377	0.633000|0.633000	0.38033|0.38033	1.193000|1.193000	0.32162|0.32162	2.106000|2.106000	0.64143|0.64143	0.402000|0.402000	0.26972|0.26972	ACC|TAC	NBEAL2	-	NULL	ENSG00000160796		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	37	0.00	0	A	XM_291064		47045770	47045770	+1	no_errors	ENST00000450053	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	0.992	C
NBPF1	55672	genome.wustl.edu	37	1	16918512	16918512	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:16918512A>C	ENST00000430580.2	-	7	892	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	2						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCTGATACCACCATGCTGAC	0.483																																						dbGAP											0													260.0	262.0	261.0					1																	16918512		2198	4299	6497	-	-	-	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.5T>G	1.37:g.16918512A>C	ENSP00000474456:p.Val2Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	661	0.30	2	A	NM_017940		16918512	16918512	-1	no_errors	ENST00000392963	ensembl	human	known	69_37n	rna	538	10.26	62	SNP	0.012	C
NCAM1	4684	genome.wustl.edu	37	11	113078048	113078048	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:113078048A>C	ENST00000533760.1	+	6	939	c.340A>C	c.(340-342)Acc>Ccc	p.T114P	NCAM1_ENST00000316851.7_Missense_Mutation_p.T222P|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T231P	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	232					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCAGTCCGTCACCCTGGTGTG	0.542																																						dbGAP											0													88.0	90.0	90.0					11																	113078048		2035	4163	6198	-	-	-	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.340A>C	11.37:g.113078048A>C	ENSP00000473281:p.Thr114Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T222P	ENST00000533760.1	37	c.664		11	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650187	0.47362	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.39787	1.06;1.06	5.54	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.476295	0.25461	N	0.030520	T	0.31606	0.0802	.	.	.	0.80722	D	1	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.003;0.0	B;B;B;B;B	0.11329	0.003;0.004;0.006;0.003;0.002	T	0.24799	-1.0150	9	0.66056	D	0.02	-39.516	6.6204	0.22800	0.7915:0.0:0.0715:0.137	.	232;232;232;232;232	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	P	114;231;222	ENSP00000384055:T231P;ENSP00000318472:T222P	ENSP00000318472:T222P	T	+	1	0	NCAM1	112583258	0.987000	0.35691	1.000000	0.80357	0.953000	0.61014	1.483000	0.35497	2.326000	0.78906	0.533000	0.62120	ACC	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000149294		0.542	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	158	0.00	0	A	NM_000615		113078048	113078048	+1	no_errors	ENST00000316851	ensembl	human	known	69_37n	missense	79	15.62	15	SNP	0.997	C
NCK1	4690	genome.wustl.edu	37	3	136664596	136664596	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:136664596T>G	ENST00000481752.1	+	3	562	c.398T>G	c.(397-399)gTg>gGg	p.V133G	NCK1_ENST00000288986.2_Missense_Mutation_p.V133G|NCK1_ENST00000469404.1_Missense_Mutation_p.V69G			P16333	NCK1_HUMAN	NCK adaptor protein 1	133	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGGACAAAGGTGATCGTCATG	0.453																																						dbGAP											0													256.0	245.0	249.0					3																	136664596		2203	4300	6503	-	-	-	SO:0001583	missense	0			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.398T>G	3.37:g.136664596T>G	ENSP00000417273:p.Val133Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z751|D3DNE3	Splice_Site	SNP	-	e2+2	ENST00000481752.1	37	c.204+2	CCDS3092.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.74|18.74	3.687688|3.687688	0.68157|0.68157	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000488930;ENST00000496489;ENST00000467911|ENST00000288986;ENST00000481752;ENST00000469404	.|T;T;T	.|0.54866	.|0.55;0.55;0.55	6.16|6.16	6.16|6.16	0.99307|0.99307	.|Src homology-3 domain (5);	.|0.058106	.|0.64402	.|D	.|0.000002	.|T	.|0.80243	.|0.4587	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|D	.|0.85581	.|0.1240	.|10	.|0.87932	.|D	.|0	.|.	14.7581|14.7581	0.69583|0.69583	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|69;133	.|B7Z751;P16333	.|.;NCK1_HUMAN	.|G	-1|133;133;69	.|ENSP00000288986:V133G;ENSP00000417273:V133G;ENSP00000419631:V69G	.|ENSP00000288986:V133G	.|V	+|+	.|2	.|0	NCK1|NCK1	138147286|138147286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.611000|7.611000	0.82962|0.82962	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	.|GTG	NCK1	-	-	ENSG00000158092		0.453	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	279	0.71	2	T	NM_006153		136664596	136664596	+1	no_stop_codon	ENST00000467911	ensembl	human	putative	69_37n	splice_site	213	12.30	30	SNP	1.000	G
NCKIPSD	51517	genome.wustl.edu	37	3	48718693	48718693	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:48718693T>G	ENST00000294129.2	-	5	1212				NCKIPSD_ENST00000341520.4_Intron|NCKIPSD_ENST00000416649.2_Intron	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTAGCAGGGTGGCCCTGCTG	0.607																																						dbGAP											0													69.0	69.0	69.0					3																	48718693		2192	4279	6471	-	-	-	SO:0001627	intron_variant	0			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1092+26A>C	3.37:g.48718693T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P373	ENST00000294129.2	37	c.1119	CCDS2776.1	3																																																																																			NCKIPSD	-	NULL	ENSG00000213672		0.607	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257520.1	24	0.00	0	T	NM_016453		48718693	48718693	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000439518	ensembl	human	putative	69_37n	silent	18	35.71	10	SNP	0.000	G
NCK1	4690	genome.wustl.edu	37	3	136664690	136664690	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:136664690T>G	ENST00000481752.1	+	3	656	c.492T>G	c.(490-492)ggT>ggG	p.G164G	NCK1_ENST00000288986.2_Silent_p.G164G|NCK1_ENST00000469404.1_Silent_p.G100G			P16333	NCK1_HUMAN	NCK adaptor protein 1	164	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTGAAGAAGGTGACAGTCCTT	0.473																																						dbGAP											0													250.0	240.0	244.0					3																	136664690		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.492T>G	3.37:g.136664690T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z751|D3DNE3	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.G164	ENST00000481752.1	37	c.492	CCDS3092.1	3																																																																																			NCK1	-	superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain	ENSG00000158092		0.473	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	301	0.33	1	T	NM_006153		136664690	136664690	+1	no_errors	ENST00000288986	ensembl	human	known	69_37n	silent	272	11.69	36	SNP	0.996	G
NCOA3	8202	genome.wustl.edu	37	20	46268322	46268322	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:46268322T>G	ENST00000371998.3	+	15	2900	c.2709T>G	c.(2707-2709)ggT>ggG	p.G903G	NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000372004.3_Splice_Site_p.G903G			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	903					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGTTTTAGGTGGGCCAAACC	0.418																																						dbGAP											0													104.0	113.0	110.0					20																	46268322		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2708-1T>G	20.37:g.46268322T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.G903	ENST00000371998.3	37	c.2709	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.418	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	322	0.92	3	T	NM_006534	Silent	46268322	46268322	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	silent	247	19.81	61	SNP	0.999	G
NCOR1	9611	genome.wustl.edu	37	17	15964978	15964978	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:15964978A>C	ENST00000268712.3	-	37	5875	c.5618T>G	c.(5617-5619)gTg>gGg	p.V1873G	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.V457G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1873	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCTTCTCCACCTCCAGGGT	0.458																																						dbGAP											0													95.0	92.0	93.0					17																	15964978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5618T>G	17.37:g.15964978A>C	ENSP00000268712:p.Val1873Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.V1873G	ENST00000268712.3	37	c.5618	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290884	0.23564	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.46451	0.87;0.88	5.87	-0.361	0.12564	.	0.716692	0.14460	N	0.318252	T	0.17450	0.0419	N	0.08118	0	0.46416	D	0.999036	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.0;0.001;0.004	T	0.09378	-1.0677	10	0.19147	T	0.46	-0.0665	5.3767	0.16170	0.44:0.2601:0.2999:0.0	.	683;1777;1873;393	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	G	1873;1777;457	ENSP00000268712:V1873G;ENSP00000379198:V457G	ENSP00000268712:V1873G	V	-	2	0	NCOR1	15905703	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.207000	0.17395	0.153000	0.19213	0.528000	0.53228	GTG	NCOR1	-	NULL	ENSG00000141027		0.458	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	330	0.00	0	A	NM_006311		15964978	15964978	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	378	16.34	74	SNP	0.995	C
NCSTN	23385	genome.wustl.edu	37	1	160323997	160323997	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:160323997A>C	ENST00000294785.5	+	11	1394	c.1269A>C	c.(1267-1269)ccA>ccC	p.P423P	NCSTN_ENST00000392212.4_Silent_p.P403P|NCSTN_ENST00000368063.1_Silent_p.P403P|NCSTN_ENST00000535857.1_Silent_p.P285P|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_Silent_p.P165P	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	423					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCCTCTCCCACCATCTTCCC	0.557																																						dbGAP											0													171.0	135.0	147.0					1																	160323997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1269A>C	1.37:g.160323997A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin,pfam_Peptidase_M28	p.H259P	ENST00000294785.5	37	c.776	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452732	0.26074	.	.	ENSG00000162736	ENST00000424645;ENST00000435149	.	.	.	5.3	-0.873	0.10635	.	.	.	.	.	T	0.35508	0.0934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27905	-1.0060	4	.	.	.	-9.5215	6.5597	0.22479	0.4681:0.1363:0.3956:0.0	.	.	.	.	P	259;100	.	.	H	+	2	0	NCSTN	158590621	0.000000	0.05858	0.992000	0.48379	0.999000	0.98932	-2.106000	0.01338	-0.169000	0.10834	0.533000	0.62120	CAC	NCSTN	-	pfam_Nicastrin,pfam_Peptidase_M28	ENSG00000162736		0.557	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	118	0.00	0	A	NM_015331		160323997	160323997	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000424645	ensembl	human	known	69_37n	missense	192	12.27	27	SNP	0.930	C
NDST3	9348	genome.wustl.edu	37	4	118975235	118975235	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:118975235A>C	ENST00000296499.5	+	2	573	c.170A>C	c.(169-171)cAc>cCc	p.H57P	NDST3_ENST00000433996.2_Missense_Mutation_p.H57P	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	57	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GACCTCCAACACCTACCATAT	0.443																																						dbGAP											0													116.0	114.0	115.0					4																	118975235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.170A>C	4.37:g.118975235A>C	ENSP00000296499:p.His57Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.H57P	ENST00000296499.5	37	c.170	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	A	8.099	0.776150	0.16051	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.41400	1.32;1.0	5.53	2.91	0.33838	.	0.628864	0.17260	N	0.180824	T	0.14184	0.0343	N	0.01576	-0.805	0.09310	N	1	B;B;P	0.34977	0.0;0.0;0.478	B;B;B	0.31686	0.0;0.0;0.134	T	0.09707	-1.0662	10	0.30078	T	0.28	.	6.9154	0.24357	0.6669:0.1142:0.0:0.2189	.	57;57;57	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	P	57	ENSP00000296499:H57P;ENSP00000396625:H57P	ENSP00000296499:H57P	H	+	2	0	NDST3	119194683	0.018000	0.18449	0.849000	0.33467	0.248000	0.25809	2.066000	0.41452	0.900000	0.36469	-0.321000	0.08615	CAC	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.443	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	200	0.00	0	A	NM_004784		118975235	118975235	+1	no_errors	ENST00000296499	ensembl	human	known	69_37n	missense	110	23.45	34	SNP	0.043	C
NDUFA3	4696	genome.wustl.edu	37	19	54610301	54610301	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:54610301T>G	ENST00000485876.1	+	0	389				NDUFA3_ENST00000391764.3_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TGATCAGAGGTGGGAACAAGT	0.582																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF044955	CCDS12877.1	19q13.42	2011-07-04	2002-08-29		ENSG00000170906	ENSG00000170906		"""Mitochondrial respiratory chain complex / Complex I"""	7686	protein-coding gene	gene with protein product	"""complex I B9 subunit"""	603832	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)"""			9878551	Standard	NM_004542		Approved	B9	uc002qde.3	O95167	OTTHUMG00000064972	ENST00000485876.1:c.*92T>G	19.37:g.54610301T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000485876.1	37	NULL	CCDS12877.1	19																																																																																			NDUFA3	-	-	ENSG00000170906		0.582	NDUFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA3	HGNC	protein_coding	OTTHUMT00000139509.5	128	0.77	1	T	NM_004542		54610301	54610301	+1	no_errors	ENST00000484360	ensembl	human	known	69_37n	rna	111	18.98	26	SNP	0.001	G
NDUFS1	4719	genome.wustl.edu	37	2	207003270	207003270	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:207003270T>G	ENST00000233190.6	-	13	1597	c.1331A>C	c.(1330-1332)cAc>cCc	p.H444P	NDUFS1_ENST00000449699.1_Missense_Mutation_p.H444P|NDUFS1_ENST00000457011.1_Missense_Mutation_p.H328P|NDUFS1_ENST00000440274.1_Missense_Mutation_p.H408P|NDUFS1_ENST00000455934.2_Missense_Mutation_p.H458P|NDUFS1_ENST00000432169.1_Missense_Mutation_p.H333P|NDUFS1_ENST00000423725.1_Missense_Mutation_p.H387P	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	444					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCTCCCAGGTGGTCATATGT	0.408																																						dbGAP											0													103.0	104.0	104.0					2																	207003270		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1331A>C	2.37:g.207003270T>G	ENSP00000233190:p.His444Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu	p.H458P	ENST00000233190.6	37	c.1373	CCDS2366.1	2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354414	0.82243	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.05	5.05	0.67936	Molybdopterin oxidoreductase (1);	0.093490	0.85682	D	0.000000	D	0.95319	0.8481	M	0.92317	3.295	0.80722	D	1	P;P;P;D	0.54601	0.645;0.94;0.933;0.967	P;D;P;D	0.65140	0.823;0.932;0.908;0.932	D	0.96388	0.9287	10	0.87932	D	0	-31.2227	15.0165	0.71588	0.0:0.0:0.0:1.0	.	333;408;458;444	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	P	444;387;328;408;458;444;333	ENSP00000233190:H444P;ENSP00000397760:H387P;ENSP00000400976:H328P;ENSP00000409766:H408P;ENSP00000392709:H458P;ENSP00000399912:H444P;ENSP00000409689:H333P	ENSP00000233190:H444P	H	-	2	0	NDUFS1	206711515	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.867000	0.87062	2.132000	0.65825	0.472000	0.43445	CAC	NDUFS1	-	pfam_Mopterin_OxRdtase,tigrfam_NADH_UbQ_OxRdtase_Gsu	ENSG00000023228		0.408	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS1	HGNC	protein_coding	OTTHUMT00000256391.4	132	0.75	1	T	NM_005006		207003270	207003270	-1	no_errors	ENST00000455934	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	1.000	G
NDUFV3	4731	genome.wustl.edu	37	21	44323553	44323553	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:44323553T>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.V144G	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GCTCGTCAGGTGGGTCGGAAA	0.483																																						dbGAP											0													122.0	127.0	125.0					21																	44323553		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5421T>G	21.37:g.44323553T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.V144G	ENST00000340344.4	37	c.431	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	T	8.329	0.826075	0.16749	.	.	ENSG00000160194	ENST00000354250	T	0.39056	1.1	5.63	-7.6	0.01303	.	2.642130	0.00944	N	0.002868	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08371	-1.0725	10	0.25751	T	0.34	3.709	0.8428	0.01154	0.2196:0.1491:0.2985:0.3328	.	144	P56181-2	.	G	144	ENSP00000346196:V144G	ENSP00000346196:V144G	V	+	2	0	NDUFV3	43196622	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.488000	0.02308	-0.756000	0.04703	-0.339000	0.08088	GTG	NDUFV3	-	NULL	ENSG00000160194		0.483	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	146	0.68	1	T			44323553	44323553	+1	no_errors	ENST00000354250	ensembl	human	known	69_37n	missense	231	14.76	40	SNP	0.000	G
NEB	4703	genome.wustl.edu	37	2	152390790	152390790	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:152390790T>G	ENST00000172853.10	-	115	16400	c.16253A>C	c.(16252-16254)cAc>cCc	p.H5418P	NEB_ENST00000409198.1_Missense_Mutation_p.H5418P|NEB_ENST00000427231.2_Missense_Mutation_p.H7119P|NEB_ENST00000397345.3_Intron|NEB_ENST00000603639.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.H7119P			P20929	NEBU_HUMAN	nebulin	5418					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACTACCAGGTGGTATTTATC	0.483																																						dbGAP											0													250.0	246.0	247.0					2																	152390790		1939	4143	6082	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16253A>C	2.37:g.152390790T>G	ENSP00000172853:p.His5418Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.H7119P	ENST00000172853.10	37	c.21356		2	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450173	0.43531	.	.	ENSG00000183091	ENST00000409198;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T	0.06768	3.41;3.43;3.26;3.41	5.91	4.78	0.61160	.	0.224676	0.52532	D	0.000076	T	0.03305	0.0096	N	0.16656	0.425	0.80722	D	1	B;P	0.40931	0.072;0.733	B;B	0.28232	0.053;0.087	T	0.46830	-0.9163	10	0.37606	T	0.19	.	2.4999	0.04630	0.0:0.2142:0.2838:0.502	.	5418;1849	P20929;Q14215	NEBU_HUMAN;.	P	5418;7119;1467;1849;5418	ENSP00000386259:H5418P;ENSP00000416578:H7119P;ENSP00000410961:H1849P;ENSP00000172853:H5418P	ENSP00000172853:H5418P	H	-	2	0	NEB	152099036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.725000	0.54970	2.254000	0.74563	0.533000	0.62120	CAC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		209	0.48	1	T	NM_004543		152390790	152390790	-1	no_errors	ENST00000427231	ensembl	human	known	69_37n	missense	152	12.07	21	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152500596	152500596	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:152500596A>C	ENST00000172853.10	-	57	7839	c.7692T>G	c.(7690-7692)ggT>ggG	p.G2564G	NEB_ENST00000409198.1_Silent_p.G2564G|NEB_ENST00000427231.2_Silent_p.G2564G|NEB_ENST00000397345.3_Silent_p.G2564G|NEB_ENST00000603639.1_Silent_p.G2564G|NEB_ENST00000604864.1_Silent_p.G2564G			P20929	NEBU_HUMAN	nebulin	2564					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTCCGGGCACCAATGTGGT	0.458																																						dbGAP											0													273.0	262.0	265.0					2																	152500596		1914	4125	6039	-	-	-	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7692T>G	2.37:g.152500596A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.G2564	ENST00000172853.10	37	c.7692		2																																																																																			NEB	-	pfscan_Nebulin_35r-motif	ENSG00000183091		0.458	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		275	0.72	2	A	NM_004543		152500596	152500596	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	170	15.84	32	SNP	0.687	C
NEB	4703	genome.wustl.edu	37	2	152550949	152550949	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:152550949A>C	ENST00000172853.10	-	20	1931	c.1784T>G	c.(1783-1785)gTg>gGg	p.V595G	NEB_ENST00000409198.1_Splice_Site_p.V595G|NEB_ENST00000427231.2_Splice_Site_p.V595G|NEB_ENST00000397345.3_Splice_Site_p.V595G|NEB_ENST00000603639.1_Splice_Site_p.V595G|NEB_ENST00000604864.1_Splice_Site_p.V595G			P20929	NEBU_HUMAN	nebulin	595					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGTACATCACCTGCAAAGA	0.483																																						dbGAP											0													191.0	178.0	182.0					2																	152550949		1945	4170	6115	-	-	-	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1783-1T>G	2.37:g.152550949A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.V595G	ENST00000172853.10	37	c.1784		2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105326	0.77096	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.77557	0.99;0.932	T	0.68823	-0.5307	10	0.66056	D	0.02	.	13.8515	0.63499	1.0:0.0:0.0:0.0	.	228;595	Q86TG3;P20929	.;NEBU_HUMAN	G	595;595;595;595;321	ENSP00000386259:V595G;ENSP00000380505:V595G;ENSP00000416578:V595G;ENSP00000172853:V595G	ENSP00000172853:V595G	V	-	2	0	NEB	152259195	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.533000	0.60615	2.257000	0.74773	0.533000	0.62120	GTG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		188	0.00	0	A	NM_004543	Missense_Mutation	152550949	152550949	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	114	16.67	23	SNP	1.000	C
NECAP2	55707	genome.wustl.edu	37	1	16774759	16774759	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:16774759A>C	ENST00000337132.5	+	4	470				NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000406746.1_Intron|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000443980.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2						endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCAGGAGAACCCAGGACAA	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.380+123A>C	1.37:g.16774759A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	RNA	SNP	-	NULL	ENST00000337132.5	37	NULL	CCDS173.1	1																																																																																			NECAP2	-	-	ENSG00000157191		0.522	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAP2	HGNC	protein_coding	OTTHUMT00000006680.2	44	0.00	0	A	NM_018090		16774759	16774759	+1	no_errors	ENST00000508680	ensembl	human	known	69_37n	rna	31	20.51	8	SNP	0.000	C
NEFH	4744	genome.wustl.edu	37	22	29886250	29886250	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:29886250T>G	ENST00000310624.6	+	4	2654	c.2621T>G	c.(2620-2622)gTg>gGg	p.V874G		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	880	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGCCCAAGGTGGAGGAGAAG	0.507																																						dbGAP											0													49.0	51.0	50.0					22																	29886250		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2621T>G	22.37:g.29886250T>G	ENSP00000311997:p.Val874Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.V874G	ENST00000310624.6	37	c.2621	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	T	0.057	-1.233012	0.01505	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83506	-1.73	4.41	-6.49	0.01890	.	1.042650	0.07691	N	0.938817	T	0.78027	0.4219	L	0.50333	1.59	0.20821	N	0.999849	B	0.24186	0.099	B	0.19391	0.025	T	0.62058	-0.6934	10	0.66056	D	0.02	.	16.6959	0.85335	0.0:0.6342:0.0:0.3658	.	880	P12036	NFH_HUMAN	G	825;874	ENSP00000311997:V874G	ENSP00000311997:V874G	V	+	2	0	NEFH	28216250	0.000000	0.05858	0.001000	0.08648	0.452000	0.32318	-2.576000	0.00910	-1.482000	0.01860	-0.408000	0.06270	GTG	NEFH	-	NULL	ENSG00000100285		0.507	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	77	0.00	0	T	NM_021076		29886250	29886250	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	missense	79	18.37	18	SNP	0.000	G
NEFH	4744	genome.wustl.edu	37	22	29886370	29886370	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:29886370T>G	ENST00000310624.6	+	4	2774	c.2741T>G	c.(2740-2742)gTg>gGg	p.V914G		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	920	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCTGCCAAGGTGGAGGTGAAG	0.502																																						dbGAP											0													62.0	65.0	64.0					22																	29886370		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2741T>G	22.37:g.29886370T>G	ENSP00000311997:p.Val914Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.V914G	ENST00000310624.6	37	c.2741	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	T	1.480	-0.557456	0.03967	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.81579	-1.51	4.11	1.59	0.23543	.	0.507685	0.14692	N	0.304121	T	0.66426	0.2788	L	0.38175	1.15	0.36552	D	0.871895	B	0.02656	0.0	B	0.01281	0.0	T	0.63576	-0.6606	10	0.72032	D	0.01	.	1.3765	0.02221	0.1285:0.189:0.1891:0.4933	.	920	P12036	NFH_HUMAN	G	865;914	ENSP00000311997:V914G	ENSP00000311997:V914G	V	+	2	0	NEFH	28216370	0.001000	0.12720	0.788000	0.31933	0.003000	0.03518	-0.703000	0.05063	0.542000	0.28846	-0.274000	0.10170	GTG	NEFH	-	NULL	ENSG00000100285		0.502	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	92	0.00	0	T	NM_021076		29886370	29886370	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	missense	88	21.43	24	SNP	0.495	G
NEFM	4741	genome.wustl.edu	37	8	24775741	24775741	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:24775741T>G	ENST00000221166.5	+	3	3155	c.2373T>G	c.(2371-2373)ggT>ggG	p.G791G	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Silent_p.G415G|NEFM_ENST00000437366.2_Silent_p.G752G|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	791	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gtgataaaggtgccaagggat	0.527																																						dbGAP											0													50.0	36.0	41.0					8																	24775741		2187	4285	6472	-	-	-	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2373T>G	8.37:g.24775741T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.G791	ENST00000221166.5	37	c.2373	CCDS6046.1	8																																																																																			NEFM	-	NULL	ENSG00000104722		0.527	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	76	0.00	0	T	NM_005382		24775741	24775741	+1	no_errors	ENST00000221166	ensembl	human	known	69_37n	silent	55	31.25	25	SNP	0.000	G
NEGR1	257194	genome.wustl.edu	37	1	72748151	72748151	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:72748151A>C	ENST00000357731.5	-	1	266	c.27T>G	c.(25-27)ggT>ggG	p.G9G	NEGR1_ENST00000434200.1_Silent_p.G7G	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	9					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGCAACAAGCACCCTGCACCA	0.647																																						dbGAP											0													94.0	74.0	81.0					1																	72748151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.27T>G	1.37:g.72748151A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G9	ENST00000357731.5	37	c.27	CCDS661.1	1																																																																																			NEGR1	-	NULL	ENSG00000172260		0.647	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	58	0.00	0	A	NM_173808		72748151	72748151	-1	no_errors	ENST00000357731	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	0.988	C
NEK4	6787	genome.wustl.edu	37	3	52794854	52794854	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52794854T>G	ENST00000233027.5	-	6	1122	c.920A>C	c.(919-921)cAc>cCc	p.H307P	NEK4_ENST00000383721.4_Missense_Mutation_p.H307P|NEK4_ENST00000535191.1_Missense_Mutation_p.H218P	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	307					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGGTTGGGGGTGGATTACTTC	0.393																																						dbGAP											0													99.0	105.0	103.0					3																	52794854		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.920A>C	3.37:g.52794854T>G	ENSP00000233027:p.His307Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM70|B2R633|B7Z200|Q6P576	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H307P	ENST00000233027.5	37	c.920	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	T	8.872	0.949533	0.18356	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72725	1.92;-0.68;1.92;-0.68	5.09	-1.05	0.10036	Protein kinase-like domain (1);	1.079570	0.07183	N	0.854325	T	0.41488	0.1161	N	0.04043	-0.29	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.19679	-1.0298	10	0.30078	T	0.28	.	1.6029	0.02678	0.113:0.2828:0.2301:0.374	.	218;307;307	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	P	307;218;307;218	ENSP00000233027:H307P;ENSP00000437703:H218P;ENSP00000373227:H307P;ENSP00000419666:H218P	ENSP00000233027:H307P	H	-	2	0	NEK4	52769894	0.000000	0.05858	0.000000	0.03702	0.926000	0.56050	-0.240000	0.08952	0.123000	0.18342	0.533000	0.62120	CAC	NEK4	-	superfamily_Kinase-like_dom	ENSG00000114904		0.393	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	167	0.60	1	T	NM_003157		52794854	52794854	-1	no_errors	ENST00000233027	ensembl	human	known	69_37n	missense	110	18.25	25	SNP	0.000	G
NELL1	4745	genome.wustl.edu	37	11	20968884	20968884	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:20968884T>G	ENST00000357134.5	+	11	1226	c.1074T>G	c.(1072-1074)ggT>ggG	p.G358G	NELL1_ENST00000298925.5_Silent_p.G386G|NELL1_ENST00000325319.5_Silent_p.G301G|NELL1_ENST00000532434.1_Silent_p.G358G	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	358					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTTCCAGGGTGGAGTTTTAG	0.368																																						dbGAP											0													95.0	98.0	97.0					11																	20968884		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1074T>G	11.37:g.20968884T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.G358	ENST00000357134.5	37	c.1074	CCDS7855.1	11																																																																																			NELL1	-	smart_VWF_C	ENSG00000165973		0.368	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	243	0.41	1	T	NM_006157		20968884	20968884	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	silent	199	15.25	36	SNP	1.000	G
NEO1	4756	genome.wustl.edu	37	15	73575388	73575388	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:73575388A>C	ENST00000339362.5	+	24	3793	c.3346A>C	c.(3346-3348)Acc>Ccc	p.T1116P	NEO1_ENST00000560262.1_Missense_Mutation_p.T1116P|NEO1_ENST00000261908.6_Missense_Mutation_p.T1116P|NEO1_ENST00000558964.1_Missense_Mutation_p.T1105P			Q92859	NEO1_HUMAN	neogenin 1	1116					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGGCGTCATCACCATCGTGGT	0.498																																						dbGAP											0													289.0	273.0	278.0					15																	73575388		2198	4297	6495	-	-	-	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3346A>C	15.37:g.73575388A>C	ENSP00000341198:p.Thr1116Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1116P	ENST00000339362.5	37	c.3346	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590071	0.86851	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.57107	0.42;0.42	5.3	5.3	0.74995	.	0.093530	0.64402	D	0.000001	T	0.62392	0.2424	L	0.39898	1.24	0.80722	D	1	D;D;P;D	0.67145	0.996;0.993;0.955;0.996	P;P;P;D	0.65323	0.877;0.883;0.786;0.934	T	0.61792	-0.6990	10	0.41790	T	0.15	-21.0776	15.5564	0.76196	1.0:0.0:0.0:0.0	.	1116;1105;827;1116	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	P	1116;827;1116	ENSP00000341198:T1116P;ENSP00000261908:T1116P	ENSP00000261908:T1116P	T	+	1	0	NEO1	71362441	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.665000	0.91144	2.137000	0.66172	0.533000	0.62120	ACC	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.498	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	425	0.70	3	A	NM_002499		73575388	73575388	+1	no_errors	ENST00000261908	ensembl	human	known	69_37n	missense	323	11.92	44	SNP	1.000	C
NES	10763	genome.wustl.edu	37	1	156639352	156639352	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:156639352T>C	ENST00000368223.3	-	4	4760	c.4628A>G	c.(4627-4629)gAg>gGg	p.E1543G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1543	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGACTTCCCCTCCAAGTTGGG	0.592																																						dbGAP											0													107.0	89.0	95.0					1																	156639352		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4628A>G	1.37:g.156639352T>C	ENSP00000357206:p.Glu1543Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E1543G	ENST00000368223.3	37	c.4628	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286737	0.23478	.	.	ENSG00000132688	ENST00000368223	D	0.86956	-2.19	4.55	0.773	0.18516	.	.	.	.	.	T	0.63721	0.2535	L	0.43152	1.355	0.09310	N	1	B	0.25105	0.118	B	0.24006	0.05	T	0.56697	-0.7936	9	0.87932	D	0	.	0.9044	0.01281	0.1538:0.2697:0.1589:0.4176	.	1543	P48681	NEST_HUMAN	G	1543	ENSP00000357206:E1543G	ENSP00000357206:E1543G	E	-	2	0	NES	154905976	0.004000	0.15560	0.004000	0.12327	0.627000	0.37826	0.422000	0.21296	-0.133000	0.11537	0.260000	0.18958	GAG	NES	-	NULL	ENSG00000132688		0.592	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	136	0.72	1	T	NM_006617		156639352	156639352	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	missense	201	13.73	32	SNP	0.000	C
NEUROD4	58158	genome.wustl.edu	37	12	55421170	55421170	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:55421170A>C	ENST00000242994.3	+	2	1325	c.947A>C	c.(946-948)tAc>tCc	p.Y316S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	316					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TATGATTCCTACCCCCATCAT	0.443																																						dbGAP											0													396.0	394.0	395.0					12																	55421170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.947A>C	12.37:g.55421170A>C	ENSP00000242994:p.Tyr316Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.Y316S	ENST00000242994.3	37	c.947	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686455	0.68157	.	.	ENSG00000123307	ENST00000242994	D	0.95724	-3.79	5.78	5.78	0.91487	.	0.054747	0.85682	D	0.000000	D	0.96197	0.8760	L	0.54323	1.7	0.47659	D	0.999489	D	0.71674	0.998	P	0.59115	0.852	D	0.96435	0.9322	10	0.72032	D	0.01	-21.1681	14.3743	0.66862	1.0:0.0:0.0:0.0	.	316	Q9HD90	NDF4_HUMAN	S	316	ENSP00000242994:Y316S	ENSP00000242994:Y316S	Y	+	2	0	NEUROD4	53707437	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	3.212000	0.51145	2.343000	0.79666	0.533000	0.62120	TAC	NEUROD4	-	pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.443	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	872	0.00	0	A			55421170	55421170	+1	no_errors	ENST00000242994	ensembl	human	known	69_37n	missense	638	11.60	84	SNP	1.000	C
NFASC	23114	genome.wustl.edu	37	1	204978714	204978714	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:204978714A>C	ENST00000401399.1	+	27	3518	c.3319A>C	c.(3319-3321)Acc>Ccc	p.T1107P	NFASC_ENST00000367171.4_Missense_Mutation_p.T1199P|NFASC_ENST00000338515.6_Missense_Mutation_p.T1124P|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.T1036P|NFASC_ENST00000513543.1_Missense_Mutation_p.T1036P|NFASC_ENST00000404907.1_Missense_Mutation_p.T1041P|NFASC_ENST00000404076.1_Missense_Mutation_p.T1024P|NFASC_ENST00000367170.4_Missense_Mutation_p.T1135P|NFASC_ENST00000539706.1_Missense_Mutation_p.T1041P|NFASC_ENST00000339876.6_Missense_Mutation_p.T1107P|NFASC_ENST00000367169.4_Missense_Mutation_p.T938P|NFASC_ENST00000338586.6_Missense_Mutation_p.T1091P|NFASC_ENST00000367172.4_Missense_Mutation_p.T1214P			O94856	NFASC_HUMAN	neurofascin	1214	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGACATCGCCACCCAGGGCTG	0.597																																						dbGAP											0													107.0	84.0	92.0					1																	204978714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3319A>C	1.37:g.204978714A>C	ENSP00000385637:p.Thr1107Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1214P	ENST00000401399.1	37	c.3640	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.167648|5.167648	0.94768|0.94768	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.80214	.|-0.43;-0.48;-0.27;-0.38;-0.45;-0.39;-0.27;-0.23;-0.3;-0.36;-0.45;-0.27;-0.23;-0.26;-1.35	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.52532	.|D	.|0.000078	D|D	0.90783|0.90783	0.7106|0.7106	M|M	0.88775|0.88775	2.98|2.98	0.43313|0.43313	D|D	0.995327|0.995327	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.993;1.0;1.0;0.999;0.993	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.917;1.0;0.991;0.997;0.967	D|D	0.91766|0.91766	0.5424|0.5424	5|10	.|0.49607	.|T	.|0.09	.|.	14.856|14.856	0.70338|0.70338	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1214;1056;1041;1091;933;1107;1036	.|O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.	P|P	153|1214;1199;1135;1124;1107;1091;1056;1041;1036;938;1024;1107;1041;1036;1032;85	.|ENSP00000356140:T1214P;ENSP00000356139:T1199P;ENSP00000356138:T1135P;ENSP00000342128:T1124P;ENSP00000344786:T1107P;ENSP00000343509:T1091P;ENSP00000438614:T1041P;ENSP00000353154:T1036P;ENSP00000356137:T938P;ENSP00000385676:T1024P;ENSP00000385637:T1107P;ENSP00000384061:T1041P;ENSP00000425908:T1036P;ENSP00000415031:T1032P;ENSP00000416891:T85P	.|ENSP00000295776:T1056P	H|T	+|+	2|1	0|0	NFASC|NFASC	203245337|203245337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.276000|9.276000	0.95745|0.95745	1.966000|1.966000	0.57179|0.57179	0.533000|0.533000	0.62120|0.62120	CAC|ACC	NFASC	-	NULL	ENSG00000163531		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	150	0.65	1	A	NM_001005388		204978714	204978714	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	missense	212	12.85	32	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69681172	69681172	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:69681172A>C	ENST00000354436.2	+	3	759	c.441A>C	c.(439-441)ccA>ccC	p.P147P	NFAT5_ENST00000566899.1_Silent_p.P71P|NFAT5_ENST00000432919.1_Silent_p.P165P|NFAT5_ENST00000393742.2_Silent_p.P71P|NFAT5_ENST00000567239.1_Silent_p.P165P|NFAT5_ENST00000349945.1_Silent_p.P71P	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	147					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTCACCACCACCTGAGGACT	0.502																																						dbGAP											0													148.0	126.0	133.0					16																	69681172		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.441A>C	16.37:g.69681172A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P165	ENST00000354436.2	37	c.495	CCDS10881.1	16																																																																																			NFAT5	-	NULL	ENSG00000102908		0.502	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	120	0.00	0	A	NM_138714		69681172	69681172	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	silent	77	18.09	17	SNP	0.997	C
NFAT5	10725	genome.wustl.edu	37	16	69727439	69727439	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:69727439A>C	ENST00000354436.2	+	12	3975	c.3657A>C	c.(3655-3657)ccA>ccC	p.P1219P	NFAT5_ENST00000349945.1_Silent_p.P1143P|NFAT5_ENST00000393742.2_Silent_p.P1143P|NFAT5_ENST00000566899.1_Silent_p.P1143P|NFAT5_ENST00000567239.1_Silent_p.P1236P|NFAT5_ENST00000432919.1_Silent_p.P1237P	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1219					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTCCCTTCCACCTAATCCAA	0.527																																						dbGAP											0													88.0	90.0	89.0					16																	69727439		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3657A>C	16.37:g.69727439A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P1237	ENST00000354436.2	37	c.3711	CCDS10881.1	16																																																																																			NFAT5	-	NULL	ENSG00000102908		0.527	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	246	0.40	1	A	NM_138714		69727439	69727439	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	silent	160	12.02	22	SNP	0.992	C
NFATC2	4773	genome.wustl.edu	37	20	50048651	50048651	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:50048651A>C	ENST00000396009.3	-	9	2894	c.2675T>G	c.(2674-2676)gTg>gGg	p.V892G	NFATC2_ENST00000610033.1_Missense_Mutation_p.V673G|NFATC2_ENST00000609943.1_Missense_Mutation_p.V872G|NFATC2_ENST00000414705.1_Missense_Mutation_p.V872G|NFATC2_ENST00000371564.3_Missense_Mutation_p.V892G|NFATC2_ENST00000609507.1_Missense_Mutation_p.V673G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	892					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTAATGGTCACCCCCGCAGG	0.522																																						dbGAP											0													178.0	157.0	164.0					20																	50048651		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2675T>G	20.37:g.50048651A>C	ENSP00000379330:p.Val892Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.V892G	ENST00000396009.3	37	c.2675	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643454	0.67244	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.24538	1.89;1.85;1.92	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000013	T	0.50257	0.1605	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.997;0.991;0.998;0.997	T	0.53373	-0.8448	10	0.87932	D	0	-18.1854	15.4755	0.75474	1.0:0.0:0.0:0.0	.	872;872;892;892	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	G	892;892;872	ENSP00000360619:V892G;ENSP00000379330:V892G;ENSP00000396471:V872G	ENSP00000360619:V892G	V	-	2	0	NFATC2	49482058	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	8.939000	0.92951	2.050000	0.60909	0.482000	0.46254	GTG	NFATC2	-	NULL	ENSG00000101096		0.522	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	105	0.00	0	A	NM_012340		50048651	50048651	-1	no_errors	ENST00000396009	ensembl	human	known	69_37n	missense	69	21.35	19	SNP	1.000	C
NFATC3	4775	genome.wustl.edu	37	16	68156494	68156494	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:68156494A>C	ENST00000346183.3	+	2	732	c.708A>C	c.(706-708)tcA>tcC	p.S236S	NFATC3_ENST00000349223.5_Silent_p.S236S|NFATC3_ENST00000329524.4_Silent_p.S236S|NFATC3_ENST00000575270.1_Silent_p.S236S|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	236	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACTCATTATCACCCAGGCAAT	0.557																																						dbGAP											0													98.0	99.0	98.0					16																	68156494		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.708A>C	16.37:g.68156494A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.T221P	ENST00000346183.3	37	c.661	CCDS10860.1	16																																																																																			NFATC3	-	NULL	ENSG00000072736		0.557	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	126	0.00	0	A	NM_004555		68156494	68156494	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570212	ensembl	human	putative	69_37n	missense	84	18.27	19	SNP	1.000	C
NFE2	4778	genome.wustl.edu	37	12	54686447	54686447	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:54686447A>C	ENST00000540264.2	-	2	1342	c.833T>G	c.(832-834)gTg>gGg	p.V278G	NFE2_ENST00000312156.4_Missense_Mutation_p.V278G|NFE2_ENST00000553070.1_Missense_Mutation_p.V278G|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.V278G			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	278	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTGGGCTGCCACCTTGTTTTT	0.592																																						dbGAP											0													40.0	41.0	41.0					12																	54686447		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.833T>G	12.37:g.54686447A>C	ENSP00000439120:p.Val278Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07720|Q6ICV9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.V278G	ENST00000540264.2	37	c.833	CCDS8876.1	12	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682346	0.88542	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.28	5.28	0.74379	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96573	0.9424	10	0.87932	D	0	-21.5865	13.4642	0.61243	1.0:0.0:0.0:0.0	.	278	Q16621	NFE2_HUMAN	G	278	ENSP00000312436:V278G;ENSP00000397185:V278G;ENSP00000439120:V278G;ENSP00000447558:V278G;ENSP00000446929:V278G	ENSP00000312436:V278G	V	-	2	0	NFE2	52972714	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.576000	0.82467	2.120000	0.65058	0.533000	0.62120	GTG	NFE2	-	pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000123405		0.592	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	72	0.00	0	A	NM_006163		54686447	54686447	-1	no_errors	ENST00000312156	ensembl	human	known	69_37n	missense	84	22.22	24	SNP	1.000	C
NFE2L2	4780	genome.wustl.edu	37	2	178096428	178096428	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:178096428T>G	ENST00000397062.3	-	5	1457	c.903A>C	c.(901-903)tcA>tcC	p.S301S	NFE2L2_ENST00000446151.2_Silent_p.S278S|NFE2L2_ENST00000464747.1_Silent_p.S285S|NFE2L2_ENST00000397063.4_Silent_p.S285S	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	301					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGTAGCAGGTGAGGGCATGC	0.408			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												dbGAP		Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													128.0	122.0	124.0					2																	178096428		2088	4245	6333	-	-	-	SO:0001819	synonymous_variant	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.903A>C	2.37:g.178096428T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,superfamily_Sepin_dom,smart_bZIP,pfscan_bZIP	p.S301	ENST00000397062.3	37	c.903	CCDS42782.1	2																																																																																			NFE2L2	-	superfamily_Sepin_dom	ENSG00000116044		0.408	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	167	0.00	0	T	NM_006164		178096428	178096428	-1	no_errors	ENST00000397062	ensembl	human	known	69_37n	silent	130	13.25	20	SNP	0.383	G
NFIL3	4783	genome.wustl.edu	37	9	94172891	94172891	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:94172891A>C	ENST00000297689.3	-	2	520	c.126T>G	c.(124-126)ggT>ggG	p.G42G		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	42					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCAGCTCCTCACCTGTTGTGG	0.453																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	dbGAP											0													147.0	142.0	144.0					9																	94172891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.126T>G	9.37:g.94172891A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP_2,pfam_bZIP_1,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.G42	ENST00000297689.3	37	c.126	CCDS6690.1	9																																																																																			NFIL3	-	pirsf_TF_bZIP_E4BP4	ENSG00000165030		0.453	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2	168	0.00	0	A	NM_005384		94172891	94172891	-1	no_errors	ENST00000297689	ensembl	human	known	69_37n	silent	130	21.21	35	SNP	0.000	C
NFKB2	4791	genome.wustl.edu	37	10	104160250	104160250	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:104160250T>G	ENST00000369966.3	+	16	2048		c.e16+2		NFKB2_ENST00000189444.6_Splice_Site|NFKB2_ENST00000428099.1_Splice_Site	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)						extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	ACTTTGAGGGTGAGCTCCCCA	0.612			T	IGH@	B-NHL																																	dbGAP		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													19.0	19.0	19.0					10																	104160250		2071	4218	6289	-	-	-	SO:0001630	splice_region_variant	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1798+2T>G	10.37:g.104160250T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Splice_Site	SNP	-	e15+2	ENST00000369966.3	37	c.1798+2	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380354	0.61845	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9454	0.64082	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKB2	104150240	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	4.198000	0.58419	2.029000	0.59856	0.459000	0.35465	.	NFKB2	-	-	ENSG00000077150		0.612	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	42	0.00	0	T		Intron	104160250	104160250	+1	no_errors	ENST00000189444	ensembl	human	known	69_37n	splice_site	21	19.23	5	SNP	1.000	G
NHEJ1	79840	genome.wustl.edu	37	2	220022939	220022939	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:220022939A>C	ENST00000356853.5	-	2	279	c.146T>G	c.(145-147)gTg>gGg	p.V49G	NHEJ1_ENST00000409720.1_Missense_Mutation_p.V49G	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	49	Globular head.				B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ACTAGTGTCCACCTGTTCATG	0.507								Non-homologous end-joining																														dbGAP											0													154.0	131.0	139.0					2																	220022939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.146T>G	2.37:g.220022939A>C	ENSP00000349313:p.Val49Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Splice_Site	SNP	-	e1+2	ENST00000356853.5	37	c.144+2	CCDS2432.1	2	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604439	0.66445	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000457600	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	5.7	0.88788	DNA double-strand break repair and VJ recombination XRCC4, N-terminal (1);	0.408889	0.23162	U	0.051222	T	0.74779	0.3761	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.62560	0.904	T	0.77122	-0.2704	10	0.66056	D	0.02	-9.6867	6.1141	0.20117	0.8005:0.0:0.1995:0.0	.	49	Q9H9Q4	NHEJ1_HUMAN	G	49	ENSP00000387290:V49G;ENSP00000349313:V49G;ENSP00000407201:V49G	ENSP00000349313:V49G	V	-	2	0	NHEJ1	219731183	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	2.366000	0.44204	2.165000	0.68154	0.533000	0.62120	GTG	NHEJ1	-	-	ENSG00000187736		0.507	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHEJ1	HGNC	protein_coding	OTTHUMT00000256817.2	222	0.45	1	A	NM_024782		220022939	220022939	-1	no_errors	ENST00000450447	ensembl	human	known	69_37n	splice_site	147	13.02	22	SNP	1.000	C
NHS	4810	genome.wustl.edu	37	X	17743896	17743896	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:17743896A>C	ENST00000380060.3	+	6	1945	c.1607A>C	c.(1606-1608)cAc>cCc	p.H536P	NHS_ENST00000398097.3_Missense_Mutation_p.H380P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	557					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCCCAGGACCACCAGCCTACT	0.542																																						dbGAP											0													62.0	54.0	57.0					X																	17743896		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1607A>C	X.37:g.17743896A>C	ENSP00000369400:p.His536Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.H536P	ENST00000380060.3	37	c.1607	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	A	6.939	0.543024	0.13250	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.45276	0.9;0.91	5.86	1.94	0.25998	.	0.525271	0.22772	N	0.055834	T	0.32133	0.0819	L	0.52364	1.645	0.41077	D	0.985497	B;B;B;B	0.11235	0.002;0.001;0.001;0.004	B;B;B;B	0.11329	0.004;0.003;0.003;0.006	T	0.08351	-1.0726	10	0.34782	T	0.22	-2.8652	6.0519	0.19790	0.6612:0.1251:0.2136:0.0	.	557;378;380;536	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	P	536;380;378	ENSP00000369400:H536P;ENSP00000381170:H380P	ENSP00000369397:H378P	H	+	2	0	NHS	17653817	0.997000	0.39634	1.000000	0.80357	0.927000	0.56198	1.474000	0.35398	0.318000	0.23185	0.486000	0.48141	CAC	NHS	-	NULL	ENSG00000188158		0.542	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	467	0.43	2	A	NM_198270		17743896	17743896	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	403	15.03	72	SNP	0.993	C
NHS	4810	genome.wustl.edu	37	X	17744668	17744668	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:17744668T>G	ENST00000380060.3	+	6	2717	c.2379T>G	c.(2377-2379)ggT>ggG	p.G793G	NHS_ENST00000398097.3_Silent_p.G637G	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	814					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATGGCCAGGGTGTAGGGGCTT	0.517																																						dbGAP											0													99.0	99.0	99.0					X																	17744668		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2379T>G	X.37:g.17744668T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.G793	ENST00000380060.3	37	c.2379	CCDS14181.1	X																																																																																			NHS	-	NULL	ENSG00000188158		0.517	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	482	0.82	4	T	NM_198270		17744668	17744668	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	silent	371	18.46	84	SNP	0.000	G
NHS	4810	genome.wustl.edu	37	X	17750086	17750086	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:17750086A>C	ENST00000380060.3	+	8	4733	c.4395A>C	c.(4393-4395)tcA>tcC	p.S1465S	NHS_ENST00000398097.3_Silent_p.S1309S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1486					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCATCACTTCACCCAGCAGTA	0.493																																						dbGAP											0													147.0	134.0	139.0					X																	17750086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4395A>C	X.37:g.17750086A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.S1465	ENST00000380060.3	37	c.4395	CCDS14181.1	X																																																																																			NHS	-	NULL	ENSG00000188158		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	266	0.37	1	A	NM_198270		17750086	17750086	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	silent	197	13.60	31	SNP	0.000	C
NIN	51199	genome.wustl.edu	37	14	51259540	51259540	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:51259540A>C	ENST00000382041.3	-	5	515	c.325T>G	c.(325-327)Tcc>Gcc	p.S109A	NIN_ENST00000389868.3_Missense_Mutation_p.S109A|NIN_ENST00000530997.2_Missense_Mutation_p.S109A|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.S109A|NIN_ENST00000324330.9_Missense_Mutation_p.S109A|NIN_ENST00000382043.4_Missense_Mutation_p.S109A|NIN_ENST00000453196.1_Missense_Mutation_p.S109A	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	109					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCGGGCAAGGACCTTCGTCCG	0.537			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													85.0	72.0	77.0					14																	51259540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.325T>G	14.37:g.51259540A>C	ENSP00000371472:p.Ser109Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.S109A	ENST00000382041.3	37	c.325	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999516	0.74818	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.88	5.88	0.94601	.	0.105418	0.64402	D	0.000002	T	0.55257	0.1909	M	0.83118	2.625	0.48135	D	0.999599	D;D;D;D;D	0.89917	1.0;0.997;0.996;0.994;0.99	D;D;D;D;D	0.85130	0.997;0.994;0.987;0.978;0.979	T	0.61088	-0.7133	10	0.72032	D	0.01	-7.1961	15.1033	0.72299	1.0:0.0:0.0:0.0	.	115;109;109;109;109	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	A	109;109;109;109;115;109;109;109;71	ENSP00000245441:S109A;ENSP00000374518:S109A;ENSP00000371474:S109A;ENSP00000371472:S109A;ENSP00000324210:S109A;ENSP00000412391:S109A;ENSP00000398641:S71A	ENSP00000245441:S109A	S	-	1	0	NIN	50329290	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.895000	0.69814	2.243000	0.73865	0.533000	0.62120	TCC	NIN	-	NULL	ENSG00000100503		0.537	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	91	0.00	0	A	NM_182946		51259540	51259540	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	missense	104	18.60	24	SNP	1.000	C
NID2	22795	genome.wustl.edu	37	14	52478355	52478355	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:52478355A>C	ENST00000216286.5	-	17	3466	c.3467T>G	c.(3466-3468)gTg>gGg	p.V1156G	NID2_ENST00000541773.1_Missense_Mutation_p.V1055G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1156					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGTCCAGTACACCATCCTCTC	0.483																																						dbGAP											0													164.0	142.0	149.0					14																	52478355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3467T>G	14.37:g.52478355A>C	ENSP00000216286:p.Val1156Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.V1156G	ENST00000216286.5	37	c.3467	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975781	0.74360	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773	T;T	0.34859	1.34;1.34	5.92	4.77	0.60923	Six-bladed beta-propeller, TolB-like (1);	0.250164	0.41001	D	0.000978	T	0.65375	0.2685	M	0.90759	3.145	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.975;0.919;0.987	T	0.71892	-0.4455	10	0.87932	D	0	.	12.2006	0.54323	0.872:0.0:0.0:0.128	.	750;1055;1156	E7EPP3;Q14112-2;Q14112	.;.;NID2_HUMAN	G	1156;750;1055	ENSP00000216286:V1156G;ENSP00000443730:V1055G	ENSP00000216286:V1156G	V	-	2	0	NID2	51548105	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	9.276000	0.95745	1.042000	0.40150	-0.336000	0.08194	GTG	NID2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000087303		0.483	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	260	0.76	2	A			52478355	52478355	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	169	15.92	32	SNP	1.000	C
NIPAL4	348938	genome.wustl.edu	37	5	156895773	156895773	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:156895773A>C	ENST00000311946.7	+	4	680	c.564A>C	c.(562-564)gcA>gcC	p.A188A	NIPAL4_ENST00000435489.2_Silent_p.A169A|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	188						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ACGCATTTGCACCTGCAACAG	0.507																																						dbGAP											0													137.0	141.0	140.0					5																	156895773		2020	4188	6208	-	-	-	SO:0001819	synonymous_variant	0			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.564A>C	5.37:g.156895773A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.A188	ENST00000311946.7	37	c.564	CCDS47328.1	5																																																																																			NIPAL4	-	pfam_Mg_trans_NIPA,pfam_DMT	ENSG00000172548		0.507	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL4	HGNC	protein_coding	OTTHUMT00000373789.1	251	0.78	2	A	NM_001099287		156895773	156895773	+1	no_errors	ENST00000311946	ensembl	human	known	69_37n	silent	139	17.75	30	SNP	0.881	C
NIPBL	25836	genome.wustl.edu	37	5	36984830	36984830	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:36984830T>G	ENST00000282516.8	+	10	2047	c.1548T>G	c.(1546-1548)ggT>ggG	p.G516G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.G516G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	516					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGCTGGGGGTGCTACAGGAG	0.403																																						dbGAP											0													131.0	140.0	137.0					5																	36984830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1548T>G	5.37:g.36984830T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.G516	ENST00000282516.8	37	c.1548	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.403	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	353	0.28	1	T	NM_015384		36984830	36984830	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	silent	261	19.33	63	SNP	1.000	G
NIPBL	25836	genome.wustl.edu	37	5	36984842	36984842	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:36984842T>G	ENST00000282516.8	+	10	2059	c.1560T>G	c.(1558-1560)ggT>ggG	p.G520G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.G520G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	520					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTACAGGAGGTAATAGACCAG	0.423																																						dbGAP											0													150.0	159.0	156.0					5																	36984842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1560T>G	5.37:g.36984842T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.G520	ENST00000282516.8	37	c.1560	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.423	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	373	0.53	2	T	NM_015384		36984842	36984842	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	silent	286	15.45	53	SNP	1.000	G
NIPBL	25836	genome.wustl.edu	37	5	36985403	36985403	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:36985403T>G	ENST00000282516.8	+	10	2620	c.2121T>G	c.(2119-2121)ggT>ggG	p.G707G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.G707G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	707					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCAAAAGGGTGAAAGCCGGC	0.428																																						dbGAP											0													57.0	58.0	57.0					5																	36985403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2121T>G	5.37:g.36985403T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.G707	ENST00000282516.8	37	c.2121	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.428	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	277	0.72	2	T	NM_015384		36985403	36985403	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	silent	239	16.21	47	SNP	0.994	G
NIPAL4	348938	genome.wustl.edu	37	5	156899735	156899735	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:156899735A>C	ENST00000311946.7	+	6	1284	c.1168A>C	c.(1168-1170)Acc>Ccc	p.T390P	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.T371P	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	390						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CATTGCAGGCACCCTCTCGGG	0.532																																						dbGAP											0													91.0	88.0	89.0					5																	156899735		2128	4247	6375	-	-	-	SO:0001583	missense	0			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1168A>C	5.37:g.156899735A>C	ENSP00000311687:p.Thr390Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.T390P	ENST00000311946.7	37	c.1168	CCDS47328.1	5	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523392	0.64747	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90563	-2.69;-2.69	5.93	5.93	0.95920	.	0.133330	0.64402	D	0.000002	D	0.93986	0.8074	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.974	D	0.93847	0.7142	10	0.54805	T	0.06	-16.2175	10.6806	0.45813	0.9291:0.0:0.0709:0.0	.	371;390	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	P	371;390	ENSP00000406456:T371P;ENSP00000311687:T390P	ENSP00000311687:T390P	T	+	1	0	NIPAL4	156832313	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.971000	0.70440	2.271000	0.75665	0.459000	0.35465	ACC	NIPAL4	-	pfam_Mg_trans_NIPA	ENSG00000172548		0.532	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL4	HGNC	protein_coding	OTTHUMT00000373789.1	153	0.65	1	A	NM_001099287		156899735	156899735	+1	no_errors	ENST00000311946	ensembl	human	known	69_37n	missense	115	16.06	22	SNP	1.000	C
NKTR	4820	genome.wustl.edu	37	3	42680768	42680768	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:42680768T>G	ENST00000232978.8	+	13	3760	c.3572T>G	c.(3571-3573)gTg>gGg	p.V1191G	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1191					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTGGGTGAAGTGGGGAAACAG	0.473																																						dbGAP											0													107.0	96.0	99.0					3																	42680768		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3572T>G	3.37:g.42680768T>G	ENSP00000232978:p.Val1191Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.V1191G	ENST00000232978.8	37	c.3572	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	T	9.590	1.125911	0.20959	.	.	ENSG00000114857	ENST00000232978	T	0.80994	-1.44	5.0	-4.09	0.03951	.	1.230460	0.05584	N	0.573386	T	0.60431	0.2268	N	0.17474	0.49	0.09310	N	1	B;B	0.20459	0.045;0.0	B;B	0.14023	0.01;0.0	T	0.40905	-0.9538	10	0.33940	T	0.23	6.098	2.3866	0.04367	0.1014:0.2677:0.3109:0.32	.	891;1191	Q6M1B8;P30414	.;NKTR_HUMAN	G	1191	ENSP00000232978:V1191G	ENSP00000232978:V1191G	V	+	2	0	NKTR	42655772	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.542000	0.06091	-0.629000	0.05575	-0.461000	0.05368	GTG	NKTR	-	NULL	ENSG00000114857		0.473	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	145	0.68	1	T	NM_005385		42680768	42680768	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	missense	151	12.64	22	SNP	0.000	G
NLGN1	22871	genome.wustl.edu	37	3	173322453	173322453	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:173322453A>C	ENST00000457714.1	+	3	494	c.65A>C	c.(64-66)cAc>cCc	p.H22P	NLGN1_ENST00000401917.3_Missense_Mutation_p.H22P|NLGN1_ENST00000361589.4_Missense_Mutation_p.H22P|NLGN1_ENST00000545397.1_Missense_Mutation_p.H22P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	22					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGCTTGGTACACCGGGGATTG	0.502																																						dbGAP											0													214.0	194.0	201.0					3																	173322453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.65A>C	3.37:g.173322453A>C	ENSP00000392500:p.His22Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.H22P	ENST00000457714.1	37	c.65	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	A	1.699	-0.502002	0.04261	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.70399	-0.15;-0.15;-0.48;-0.15;-0.15	5.62	3.02	0.34903	.	0.212332	0.32819	N	0.005619	T	0.47911	0.1471	N	0.14661	0.345	0.21416	N	0.999692	B;P	0.38420	0.0;0.63	B;B	0.29353	0.0;0.101	T	0.38243	-0.9670	10	0.34782	T	0.22	.	12.7392	0.57241	0.6191:0.3808:0.0:0.0	.	22;22	D2X2H5;Q8N2Q7-2	.;.	P	22	ENSP00000392500:H22P;ENSP00000354541:H22P;ENSP00000410374:H22P;ENSP00000441108:H22P;ENSP00000385750:H22P	ENSP00000354541:H22P	H	+	2	0	NLGN1	174805147	0.760000	0.28428	0.991000	0.47740	0.483000	0.33249	0.583000	0.23849	1.032000	0.39892	0.383000	0.25322	CAC	NLGN1	-	NULL	ENSG00000169760		0.502	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	196	0.00	0	A	NM_014932		173322453	173322453	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	187	11.79	25	SNP	0.618	C
NLGN4X	57502	genome.wustl.edu	37	X	5811277	5811277	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:5811277T>G	ENST00000381095.3	-	6	2659	c.2032A>C	c.(2032-2034)Acc>Ccc	p.T678P	NLGN4X_ENST00000538097.1_Missense_Mutation_p.T678P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T698P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T678P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T678P	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	678					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						ACGGCAATGGTGACACTTAAT	0.512																																						dbGAP											0													108.0	105.0	106.0					X																	5811277		2203	4298	6501	-	-	-	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.2032A>C	X.37:g.5811277T>G	ENSP00000370485:p.Thr678Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.T698P	ENST00000381095.3	37	c.2092	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292260	0.40594	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	3.82	3.82	0.43975	.	0.000000	0.35838	N	0.002954	D	0.85961	0.5819	M	0.84773	2.715	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.987;0.996	D	0.87378	0.2355	10	0.87932	D	0	.	11.2516	0.49028	0.0:0.0:0.0:1.0	.	735;678;698	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	P	678;698;678;678;678	ENSP00000370485:T678P;ENSP00000370483:T698P;ENSP00000275857:T678P;ENSP00000370482:T678P;ENSP00000439203:T678P	ENSP00000275857:T678P	T	-	1	0	NLGN4X	5821277	1.000000	0.71417	0.998000	0.56505	0.049000	0.14656	6.912000	0.75753	1.222000	0.43521	0.417000	0.27973	ACC	NLGN4X	-	prints_Neuroligin	ENSG00000146938		0.512	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	229	0.43	1	T	NM_020742		5811277	5811277	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	132	11.84	18	SNP	1.000	G
NLGN3	54413	genome.wustl.edu	37	X	70389987	70389987	+	3'UTR	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:70389987T>C	ENST00000358741.3	+	0	2890				NLGN3_ENST00000374051.3_3'UTR|NLGN3_ENST00000536169.1_3'UTR|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCTCCCTCCCTCCCAGATCCA	0.562																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													31.0	26.0	28.0					X																	70389987		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.*40T>C	X.37:g.70389987T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	SNP	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-	ENSG00000196338		0.562	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	27	0.00	0	T	NM_018977		70389987	70389987	+1	no_errors	ENST00000476589	ensembl	human	known	69_37n	rna	47	20.34	12	SNP	0.942	C
NLRC5	84166	genome.wustl.edu	37	16	57059457	57059457	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:57059457T>G	ENST00000262510.6	+	6	827	c.602T>G	c.(601-603)gTg>gGg	p.V201G	NLRC5_ENST00000308149.7_Missense_Mutation_p.V201G|NLRC5_ENST00000539144.1_Missense_Mutation_p.V201G|NLRC5_ENST00000436936.1_Missense_Mutation_p.V201G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	201					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GACGTCAAGGTGGAAGATGGT	0.612																																						dbGAP											0													126.0	123.0	124.0					16																	57059457		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.602T>G	16.37:g.57059457T>G	ENSP00000262510:p.Val201Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.V201G	ENST00000262510.6	37	c.602	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	T	6.384	0.439009	0.12104	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.72835	-0.5;-0.52;-0.69;-0.52	4.95	0.471	0.16752	.	0.665909	0.11989	N	0.510060	T	0.44808	0.1311	N	0.11427	0.14	0.09310	N	0.999998	B;B;B;B	0.09022	0.002;0.002;0.001;0.0	B;B;B;B	0.09377	0.004;0.002;0.003;0.001	T	0.24368	-1.0162	10	0.13470	T	0.59	.	7.0859	0.25257	0.0:0.6678:0.1262:0.206	.	201;201;201;201	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	G	201	ENSP00000262510:V201G;ENSP00000308886:V201G;ENSP00000389739:V201G;ENSP00000441727:V201G	ENSP00000262510:V201G	V	+	2	0	NLRC5	55616958	0.000000	0.05858	0.025000	0.17156	0.009000	0.06853	0.269000	0.18589	0.229000	0.21039	-0.441000	0.05720	GTG	NLRC5	-	NULL	ENSG00000140853		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	117	0.00	0	T	NM_032206		57059457	57059457	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	127	12.41	18	SNP	0.083	G
NLRC5	84166	genome.wustl.edu	37	16	57088712	57088712	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:57088712A>C	ENST00000262510.6	+	25	3781	c.3556A>C	c.(3556-3558)Acc>Ccc	p.T1186P	NLRC5_ENST00000308149.7_Missense_Mutation_p.T1186P|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.T1186P|NLRC5_ENST00000436936.1_Missense_Mutation_p.T1186P	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1186					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGGCCAACACCTTAAGCCT	0.582																																						dbGAP											0													166.0	169.0	168.0					16																	57088712		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3556A>C	16.37:g.57088712A>C	ENSP00000262510:p.Thr1186Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.T1186P	ENST00000262510.6	37	c.3556	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.515|9.515	1.106738|1.106738	0.20714|0.20714	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.|T;T;T;T;T;T	.|0.53640	.|0.61;5.47;0.61;5.47;0.61;0.61	4.88|4.88	-9.77|-9.77	0.00500|0.00500	.|.	.|.	.|.	.|.	.|.	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;P;P;P;P	.|0.46912	.|0.408;0.886;0.813;0.718;0.587	.|B;B;B;B;B	.|0.37480	.|0.087;0.245;0.245;0.251;0.177	T|T	0.33624|0.33624	-0.9861|-0.9861	5|9	.|0.35671	.|T	.|0.21	.|.	4.3921|4.3921	0.11346|0.11346	0.2892:0.2294:0.3981:0.0834|0.2892:0.2294:0.3981:0.0834	.|.	.|871;1186;1186;1186;1186	.|Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;.;NLRC5_HUMAN	P|P	938|1186;1186;1186;630;1186;663;455	.|ENSP00000262510:T1186P;ENSP00000308886:T1186P;ENSP00000389739:T1186P;ENSP00000441727:T1186P;ENSP00000441597:T663P;ENSP00000440153:T455P	.|ENSP00000262510:T1186P	H|T	+|+	2|1	0|0	NLRC5|NLRC5	55646213|55646213	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.901000|-1.901000	0.01597|0.01597	-2.589000|-2.589000	0.00457|0.00457	-0.385000|-0.385000	0.06624|0.06624	CAC|ACC	NLRC5	-	NULL	ENSG00000140853		0.582	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	247	0.40	1	A	NM_032206		57088712	57088712	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	202	12.93	30	SNP	0.000	C
NLRP10	338322	genome.wustl.edu	37	11	7984900	7984900	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:7984900T>C	ENST00000328600.2	-	1	304	c.143A>G	c.(142-144)gAg>gGg	p.E48G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	48	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCTCCAACTCCCCTCTGGC	0.512																																						dbGAP											0													73.0	76.0	75.0					11																	7984900		2201	4296	6497	-	-	-	SO:0001583	missense	0			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.143A>G	11.37:g.7984900T>C	ENSP00000327763:p.Glu48Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E48G	ENST00000328600.2	37	c.143	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	T	9.635	1.137467	0.21123	.	.	ENSG00000182261	ENST00000328600;ENST00000526590	T;T	0.53423	0.62;0.62	4.13	2.88	0.33553	Pyrin (2);DEATH-like (2);	0.179758	0.26971	N	0.021566	T	0.43255	0.1239	M	0.65498	2.005	0.25094	N	0.990831	B	0.15473	0.013	B	0.24848	0.056	T	0.42783	-0.9431	10	0.59425	D	0.04	.	6.2025	0.20583	0.2244:0.0:0.0:0.7756	.	48	Q86W26	NAL10_HUMAN	G	48	ENSP00000327763:E48G;ENSP00000436255:E48G	ENSP00000327763:E48G	E	-	2	0	NLRP10	7941476	0.993000	0.37304	1.000000	0.80357	0.215000	0.24574	1.178000	0.31981	1.825000	0.53177	0.460000	0.39030	GAG	NLRP10	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000182261		0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	87	0.00	0	T	NM_176821		7984900	7984900	-1	no_errors	ENST00000328600	ensembl	human	known	69_37n	missense	111	17.78	24	SNP	1.000	C
NLRP7	199713	genome.wustl.edu	37	19	55450430	55450430	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:55450430A>C	ENST00000590030.1	-	3	1797	c.1757T>G	c.(1756-1758)gTg>gGg	p.V586G	NLRP7_ENST00000448121.2_Missense_Mutation_p.V586G|NLRP7_ENST00000446217.1_Missense_Mutation_p.V614G|NLRP7_ENST00000328092.5_Missense_Mutation_p.V586G|NLRP7_ENST00000592784.1_Missense_Mutation_p.V586G|NLRP7_ENST00000340844.2_Missense_Mutation_p.V586G|NLRP7_ENST00000588756.1_Missense_Mutation_p.V586G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	586							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGCCACCACCACCTTCGCCAG	0.488																																						dbGAP											0													79.0	75.0	77.0					19																	55450430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1757T>G	19.37:g.55450430A>C	ENSP00000465520:p.Val586Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V614G	ENST00000590030.1	37	c.1841	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	A	3.694	-0.063012	0.07273	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	1.92	-1.7	0.08159	.	1.595020	0.04320	N	0.350572	T	0.35913	0.0948	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24576	0.036;0.036;0.036;0.106	B;B;B;B	0.26416	0.021;0.031;0.031;0.069	T	0.21280	-1.0250	10	0.39692	T	0.17	.	2.9473	0.05850	0.2467:0.0:0.2342:0.5191	.	614;586;586;586	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	586;586;586;614;353	ENSP00000329568:V586G;ENSP00000409137:V586G;ENSP00000339491:V586G;ENSP00000414273:V614G	ENSP00000329568:V586G	V	-	2	0	NLRP7	60142242	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.532000	0.02217	-0.295000	0.08960	-2.748000	0.00125	GTG	NLRP7	-	NULL	ENSG00000167634		0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	123	0.81	1	A	NM_139176		55450430	55450430	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	0.000	C
NLRP7	199713	genome.wustl.edu	37	19	55452361	55452361	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:55452361A>C	ENST00000590030.1	-	2	330	c.290T>G	c.(289-291)gTg>gGg	p.V97G	NLRP7_ENST00000448121.2_Missense_Mutation_p.V97G|NLRP7_ENST00000446217.1_Missense_Mutation_p.V125G|NLRP7_ENST00000328092.5_Missense_Mutation_p.V97G|NLRP7_ENST00000592784.1_Missense_Mutation_p.V97G|NLRP7_ENST00000340844.2_Missense_Mutation_p.V97G|NLRP7_ENST00000588756.1_Missense_Mutation_p.V97G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	97							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TATTTCTTGCACCTGTCCGTC	0.428																																						dbGAP											0													214.0	177.0	190.0					19																	55452361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.290T>G	19.37:g.55452361A>C	ENSP00000465520:p.Val97Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V125G	ENST00000590030.1	37	c.374	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	A	0.097	-1.158231	0.01686	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.73363	-0.68;-0.68;-0.74;-0.72	1.8	-3.6	0.04570	.	.	.	.	.	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18741	0.022;0.022;0.022;0.03	B;B;B;B	0.20955	0.013;0.019;0.019;0.032	T	0.18493	-1.0335	9	0.21014	T	0.42	.	0.4077	0.00436	0.2032:0.1733:0.2796:0.3439	.	125;97;97;97	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	97;97;97;125	ENSP00000329568:V97G;ENSP00000409137:V97G;ENSP00000339491:V97G;ENSP00000414273:V125G	ENSP00000329568:V97G	V	-	2	0	NLRP7	60144173	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.305000	0.08188	-2.096000	0.00852	-0.695000	0.03696	GTG	NLRP7	-	NULL	ENSG00000167634		0.428	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	99	1.00	1	A	NM_139176		55452361	55452361	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	missense	75	16.67	15	SNP	0.000	C
NLRP13	126204	genome.wustl.edu	37	19	56407313	56407313	+	Nonstop_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:56407313A>C	ENST00000342929.3	-	11	3129	c.3130T>G	c.(3130-3132)Taa>Gaa	p.*1044E	NLRP13_ENST00000588751.1_Intron	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	0							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTGAGGTTTACCCGAGTTTC	0.468																																						dbGAP											0													214.0	194.0	201.0					19																	56407313		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.3130T>G	19.37:g.56407313A>C	ENSP00000343891:p.*1044Glnext*?	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR5	Nonstop_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.*1044E	ENST00000342929.3	37	c.3130	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537849	0.27475	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.67	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1073	0.25370	1.0:0.0:0.0:0.0	.	.	.	.	E	1044	.	.	X	-	1	0	NLRP13	61099125	0.993000	0.37304	0.073000	0.20177	0.043000	0.13939	3.497000	0.53295	1.236000	0.43740	0.482000	0.46254	TAA	NLRP13	-	NULL	ENSG00000173572		0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	382	0.78	3	A	NM_176810		56407313	56407313	-1	no_errors	ENST00000342929	ensembl	human	known	69_37n	nonstop	381	11.55	50	SNP	0.026	C
NNT	23530	genome.wustl.edu	37	5	43644382	43644382	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:43644382T>G	ENST00000264663.5	+	8	1274	c.1053T>G	c.(1051-1053)ggT>ggG	p.G351G	NNT_ENST00000512996.2_Silent_p.G220G|NNT_ENST00000344920.4_Silent_p.G351G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	351					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTGAGGCTGGTGGAAACTTTG	0.368																																						dbGAP											0													99.0	101.0	100.0					5																	43644382		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1053T>G	5.37:g.43644382T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16796|Q2TB60|Q8N3V4	Silent	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.G351	ENST00000264663.5	37	c.1053	CCDS3949.1	5																																																																																			NNT	-	pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a	ENSG00000112992		0.368	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	140	0.71	1	T	NM_182977		43644382	43644382	+1	no_errors	ENST00000264663	ensembl	human	known	69_37n	silent	107	17.56	23	SNP	0.243	G
NOP14	8602	genome.wustl.edu	37	4	2951857	2951857	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:2951857A>C	ENST00000314262.6	-	8	1134	c.1086T>G	c.(1084-1086)ggT>ggG	p.G362G	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Silent_p.G362G|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.G362G|NOP14_ENST00000416614.2_Silent_p.G362G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	362					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTGAACTGTCACCTTCTTCCT	0.537																																						dbGAP											0													279.0	276.0	277.0					4																	2951857		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1086T>G	4.37:g.2951857A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	pfam_Nop14	p.G362	ENST00000314262.6	37	c.1086	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.537	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	134	0.00	0	A	NM_003703		2951857	2951857	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	silent	133	18.40	30	SNP	0.000	C
NOP2	4839	genome.wustl.edu	37	12	6666517	6666517	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6666517A>C	ENST00000322166.5	-	16	2202	c.2081T>G	c.(2080-2082)gTg>gGg	p.V694G	IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000382421.3_Missense_Mutation_p.V727G|IFFO1_ENST00000336604.4_5'Flank|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.V690G|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000541778.1_Missense_Mutation_p.V690G|NOP2_ENST00000537442.1_Missense_Mutation_p.V694G|NOP2_ENST00000542015.1_5'UTR	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	694					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTTCCCAGTCACCTTTGGCTC	0.512																																						dbGAP											0													172.0	173.0	172.0					12																	6666517		2022	4182	6204	-	-	-	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2081T>G	12.37:g.6666517A>C	ENSP00000313272:p.Val694Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.V694G	ENST00000322166.5	37	c.2081	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	A	8.301	0.819928	0.16678	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	4.68	-5.09	0.02920	.	0.878549	0.09693	N	0.768101	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B;B	0.26547	0.009;0.152	B;B	0.29785	0.038;0.107	T	0.42172	-0.9467	10	0.23302	T	0.38	-0.4573	0.4737	0.00536	0.2397:0.3277:0.1822:0.2503	.	694;690	P46087;P46087-2	NOP2_HUMAN;.	G	694;727;690;694;690	ENSP00000444437:V694G;ENSP00000371858:V727G;ENSP00000382392:V690G;ENSP00000313272:V694G;ENSP00000443150:V690G	ENSP00000313272:V694G	V	-	2	0	NOP2	6536778	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.054000	0.03496	-0.560000	0.06102	-0.250000	0.11733	GTG	NOP2	-	pfam_P120R	ENSG00000111641		0.512	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	189	0.52	1	A	NM_006170		6666517	6666517	-1	no_errors	ENST00000322166	ensembl	human	known	69_37n	missense	67	20.24	17	SNP	0.000	C
NOP9	161424	genome.wustl.edu	37	14	24771255	24771255	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24771255A>C	ENST00000267425.3	+	4	986	c.893A>C	c.(892-894)cAt>cCt	p.H298P	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.H298P	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	298							poly(A) RNA binding (GO:0044822)										TTTTGCGCTCATCTCTGCAAT	0.517																																						dbGAP											0													134.0	132.0	133.0					14																	24771255		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.893A>C	14.37:g.24771255A>C	ENSP00000267425:p.His298Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.H298P	ENST00000267425.3	37	c.893	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	A	9.120	1.008626	0.19199	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.13420	2.59;2.59	5.21	2.76	0.32466	Armadillo-type fold (1);	0.522055	0.22113	N	0.064460	T	0.12732	0.0309	L	0.44542	1.39	0.22796	N	0.998729	B	0.25105	0.118	B	0.31245	0.126	T	0.20773	-1.0265	10	0.32370	T	0.25	-13.5236	9.3133	0.37919	0.8445:0.0:0.1555:0.0	.	298	Q86U38	CN021_HUMAN	P	298	ENSP00000267425:H298P;ENSP00000380020:H298P	ENSP00000267425:H298P	H	+	2	0	C14orf21	23841095	0.998000	0.40836	0.994000	0.49952	0.299000	0.27559	2.397000	0.44477	0.973000	0.38340	0.533000	0.62120	CAT	NOP9	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	ENSG00000196943		0.517	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	180	0.00	0	A			24771255	24771255	+1	no_errors	ENST00000267425	ensembl	human	known	69_37n	missense	208	15.45	38	SNP	0.997	C
NOS1	4842	genome.wustl.edu	37	12	117693788	117693788	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:117693788A>C	ENST00000338101.4	-	16	2590	c.2586T>G	c.(2584-2586)ggT>ggG	p.G862G	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTTCTGTGTCACCATTGGGGA	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													156.0	141.0	146.0					12																	117693788		876	1991	2867	-	-	-	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2586T>G	12.37:g.117693788A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.G862	ENST00000338101.4	37	c.2586	CCDS55890.1	12																																																																																			NOS1	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth	ENSG00000089250		0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	59	0.00	0	A			117693788	117693788	-1	no_errors	ENST00000338101	ensembl	human	novel	69_37n	silent	54	16.92	11	SNP	0.000	C
NOS2	4843	genome.wustl.edu	37	17	26106011	26106011	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:26106011A>C	ENST00000313735.6	-	10	1309	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	359					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CAGGCCGCCCACCTCAAGCAG	0.562																																						dbGAP											0													65.0	64.0	64.0					17																	26106011		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1076T>G	17.37:g.26106011A>C	ENSP00000327251:p.Val359Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V359G	ENST00000313735.6	37	c.1076	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793351	0.70452	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.26373	1.74	5.5	0.759	0.18438	Nitric oxide synthase, oxygenase domain (2);	0.222616	0.36409	N	0.002606	T	0.47801	0.1465	M	0.85041	2.73	0.80722	D	1	D;D	0.59767	0.986;0.982	P;D	0.63877	0.687;0.919	T	0.47935	-0.9078	10	0.87932	D	0	.	9.8993	0.41338	0.619:0.0:0.381:0.0	.	359;359	F8WEM3;P35228	.;NOS2_HUMAN	G	359;320;359	ENSP00000327251:V359G	ENSP00000305638:V359G	V	-	2	0	NOS2	23130138	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	2.185000	0.42584	-0.144000	0.11314	0.459000	0.35465	GTG	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000007171		0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	109	0.90	1	A	NM_000625		26106011	26106011	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	114	19.15	27	SNP	1.000	C
NOS2	4843	genome.wustl.edu	37	17	26110032	26110032	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:26110032T>G	ENST00000313735.6	-	6	801	c.568A>C	c.(568-570)Acc>Ccc	p.T190P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	190					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCCTGCTTGGTGGCGAAGATG	0.552																																						dbGAP											0													241.0	170.0	194.0					17																	26110032		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.568A>C	17.37:g.26110032T>G	ENSP00000327251:p.Thr190Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.T190P	ENST00000313735.6	37	c.568	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011826	0.75046	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22336	1.96	5.62	4.52	0.55395	Nitric oxide synthase, oxygenase domain (3);	0.193128	0.44483	D	0.000448	T	0.31702	0.0805	L	0.60455	1.87	0.36182	D	0.849499	P;P	0.40302	0.575;0.712	B;P	0.52386	0.252;0.697	T	0.37337	-0.9710	10	0.87932	D	0	.	5.7883	0.18347	0.1509:0.0847:0.0:0.7643	.	190;190	F8WEM3;P35228	.;NOS2_HUMAN	P	190	ENSP00000327251:T190P	ENSP00000305638:T190P	T	-	1	0	NOS2	23134159	0.998000	0.40836	1.000000	0.80357	0.900000	0.52787	1.647000	0.37260	0.932000	0.37266	0.491000	0.48974	ACC	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000007171		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	84	0.00	0	T	NM_000625		26110032	26110032	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	78	18.56	18	SNP	1.000	G
NOS2	4843	genome.wustl.edu	37	17	26110103	26110103	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:26110103A>C	ENST00000313735.6	-	6	730	c.497T>G	c.(496-498)gTg>gGg	p.V166G		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	166					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TACCGCTTCCACCCTGGCCAG	0.522																																						dbGAP											0													238.0	172.0	194.0					17																	26110103		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.497T>G	17.37:g.26110103A>C	ENSP00000327251:p.Val166Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V166G	ENST00000313735.6	37	c.497	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159835	0.78226	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.24350	1.86	5.66	5.66	0.87406	Nitric oxide synthase, oxygenase domain (3);	0.411036	0.23026	N	0.052791	T	0.44973	0.1319	M	0.61703	1.905	0.52501	D	0.999952	P;D	0.54964	0.871;0.969	B;P	0.58520	0.358;0.84	T	0.39941	-0.9589	10	0.72032	D	0.01	.	15.0787	0.72096	1.0:0.0:0.0:0.0	.	166;166	F8WEM3;P35228	.;NOS2_HUMAN	G	166	ENSP00000327251:V166G	ENSP00000305638:V166G	V	-	2	0	NOS2	23134230	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.155000	0.77445	2.162000	0.67917	0.416000	0.27883	GTG	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000007171		0.522	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	131	0.75	1	A	NM_000625		26110103	26110103	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	109	18.66	25	SNP	0.999	C
NOTCH2	4853	genome.wustl.edu	37	1	120458282	120458282	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:120458282T>G	ENST00000256646.2	-	34	7282	c.7063A>C	c.(7063-7065)Act>Cct	p.T2355P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2355					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCATGGCAGTGGGGAAAGCC	0.622			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													93.0	102.0	99.0					1																	120458282		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7063A>C	1.37:g.120458282T>G	ENSP00000256646:p.Thr2355Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.T2355P	ENST00000256646.2	37	c.7063	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	T	6.508	0.461922	0.12342	.	.	ENSG00000134250	ENST00000256646	D	0.82433	-1.61	5.31	-1.49	0.08718	.	0.407683	0.17920	N	0.157554	T	0.37598	0.1009	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.40478	-0.9561	10	0.22706	T	0.39	.	5.4042	0.16312	0.0:0.2332:0.2647:0.5021	.	2355	Q04721	NOTC2_HUMAN	P	2355	ENSP00000256646:T2355P	ENSP00000256646:T2355P	T	-	1	0	NOTCH2	120259805	1.000000	0.71417	0.917000	0.36280	0.970000	0.65996	0.713000	0.25794	-0.024000	0.13941	0.459000	0.35465	ACT	NOTCH2	-	pirsf_Notch	ENSG00000134250		0.622	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	137	0.72	1	T	NM_024408		120458282	120458282	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	331	12.60	48	SNP	0.002	G
NOTCH4	4855	genome.wustl.edu	37	6	32163332	32163335	+	Frame_Shift_Del	DEL	ATGT	ATGT	-			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	ATGT	ATGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32163332_32163335delATGT	ENST00000375023.3	-	30	6029_6032	c.5891_5894delACAT	c.(5890-5895)aacattfs	p.NI1964fs	GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1964					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGGATCGGAATGTTGGAGGCAGA	0.623																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5891_5894delACAT	6.37:g.32163332_32163335delATGT	ENSP00000364163:p.Asn1964fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Del	DEL	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.N1964fs	ENST00000375023.3	37	c.5894_5891	CCDS34420.1	6																																																																																			NOTCH4	-	pirsf_Notch,prints_Notch_4	ENSG00000204301		0.623	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	75	0.00	0	ATGT			32163332	32163335	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	frame_shift_del	64	10.96	8	DEL	0.001:0.001:0.002:0.001	-
NOTCH4	4855	genome.wustl.edu	37	6	32181908	32181908	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32181908T>G	ENST00000375023.3	-	13	2284	c.2146A>C	c.(2146-2148)Acc>Ccc	p.T716P	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	716	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTAGGGCAGGTGCAGTTGTAG	0.627																																						dbGAP											0													107.0	101.0	103.0					6																	32181908		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2146A>C	6.37:g.32181908T>G	ENSP00000364163:p.Thr716Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.T716P	ENST00000375023.3	37	c.2146	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547015	0.45383	.	.	ENSG00000204301	ENST00000375023	T	0.70516	-0.49	4.18	4.18	0.49190	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.161353	0.29152	N	0.012998	T	0.63663	0.2530	M	0.91872	3.25	0.80722	D	1	B	0.26445	0.149	B	0.24541	0.054	T	0.67635	-0.5620	10	0.31617	T	0.26	.	11.2223	0.48862	0.0:0.0:0.0:1.0	.	716	Q99466	NOTC4_HUMAN	P	716	ENSP00000364163:T716P	ENSP00000364163:T716P	T	-	1	0	NOTCH4	32289886	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	2.839000	0.48207	1.761000	0.52028	0.459000	0.35465	ACC	NOTCH4	-	smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom	ENSG00000204301		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	227	0.86	2	T			32181908	32181908	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	missense	203	13.19	31	SNP	1.000	G
NOTCH4	4855	genome.wustl.edu	37	6	32188812	32188812	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32188812T>G	ENST00000375023.3	-	4	880	c.742A>C	c.(742-744)Acc>Ccc	p.T248P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	248	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCTGGCAGGTGCCCCCATTC	0.667																																						dbGAP											0													77.0	64.0	68.0					6																	32188812		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.742A>C	6.37:g.32188812T>G	ENSP00000364163:p.Thr248Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.T248P	ENST00000375023.3	37	c.742	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345429	0.41498	.	.	ENSG00000204301	ENST00000375023	D	0.93712	-3.27	4.74	4.74	0.60224	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45361	D	0.000374	D	0.93835	0.8028	M	0.91510	3.215	0.80722	D	1	B;B	0.33841	0.039;0.428	B;B	0.41174	0.107;0.349	D	0.95153	0.8274	10	0.87932	D	0	.	12.2223	0.54441	0.0:0.0:0.0:1.0	.	248;248	Q6P3V5;Q99466	.;NOTC4_HUMAN	P	248	ENSP00000364163:T248P	ENSP00000364163:T248P	T	-	1	0	NOTCH4	32296790	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	4.778000	0.62368	1.997000	0.58415	0.402000	0.26972	ACC	NOTCH4	-	pfam_EGF-like_dom,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom	ENSG00000204301		0.667	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	135	0.74	1	T			32188812	32188812	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	missense	133	12.99	20	SNP	1.000	G
NOX1	27035	genome.wustl.edu	37	X	100103625	100103625	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100103625T>G	ENST00000372966.3	-	12	1767	c.1562A>C	c.(1561-1563)cAc>cCc	p.H521P	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.H484P|NOX1_ENST00000217885.5_Missense_Mutation_p.H472P	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	521	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTACTTGGGGTGGGAGGTAGC	0.483																																						dbGAP											0													160.0	146.0	151.0					X																	100103625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1562A>C	X.37:g.100103625T>G	ENSP00000362057:p.His521Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.H521P	ENST00000372966.3	37	c.1562	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	t	12.86	2.065151	0.36470	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.95272	-3.66;-3.66;-3.66	4.68	3.44	0.39384	Ferric reductase, NAD binding (1);	0.172136	0.50627	D	0.000117	D	0.97009	0.9023	H	0.94385	3.53	0.38176	D	0.939485	P;B;B	0.46512	0.879;0.043;0.105	P;B;B	0.55824	0.785;0.105;0.169	D	0.98087	1.0407	10	0.87932	D	0	-5.2715	9.2218	0.37382	0.163:0.0:0.0:0.837	.	484;472;521	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	P	521;472;484	ENSP00000362057:H521P;ENSP00000217885:H472P;ENSP00000362051:H484P	ENSP00000217885:H472P	H	-	2	0	NOX1	99990281	1.000000	0.71417	0.435000	0.26784	0.959000	0.62525	4.089000	0.57685	1.728000	0.51552	0.424000	0.28305	CAC	NOX1	-	pfam_Fe_red_NAD-bd_6	ENSG00000007952		0.483	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	92	0.00	0	T	NM_007052		100103625	100103625	-1	no_errors	ENST00000372966	ensembl	human	known	69_37n	missense	157	18.23	35	SNP	0.671	G
NOX5	79400	genome.wustl.edu	37	15	69331272	69331272	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:69331272A>C	ENST00000388866.3	+	9	1488	c.1447A>C	c.(1447-1449)Acc>Ccc	p.T483P	NOX5_ENST00000260364.5_Missense_Mutation_p.T465P|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.T455P|NOX5_ENST00000448182.3_Missense_Mutation_p.T437P|NOX5_ENST00000455873.3_Missense_Mutation_p.T448P	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	483	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAACATCCCCACCATTGCTCG	0.512																																						dbGAP											0													240.0	223.0	229.0					15																	69331272		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1447A>C	15.37:g.69331272A>C	ENSP00000373518:p.Thr483Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T483P	ENST00000388866.3	37	c.1447	CCDS32276.2	15	.	.	.	.	.	.	.	.	.	.	A	7.824	0.718369	0.15372	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.13307	2.6;2.6;2.6	3.43	0.809	0.18725	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.699906	0.13352	N	0.394361	T	0.12475	0.0303	L	0.58510	1.815	0.28567	N	0.910821	P;P;P	0.40360	0.528;0.714;0.528	B;B;B	0.40256	0.217;0.324;0.146	T	0.18555	-1.0333	10	0.56958	D	0.05	-13.5427	1.7364	0.02943	0.2986:0.0:0.3895:0.3118	.	448;483;455	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	P	448;465;483;455	ENSP00000416828:T448P;ENSP00000373518:T483P;ENSP00000432440:T455P	ENSP00000373518:T483P	T	+	1	0	NOX5	67118326	0.575000	0.26692	0.931000	0.37212	0.074000	0.17049	2.499000	0.45372	0.227000	0.20999	0.260000	0.18958	ACC	NOX5	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000255346		0.512	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	HGNC	protein_coding	OTTHUMT00000257124.2	276	0.00	0	A	NM_024505		69331272	69331272	+1	no_errors	ENST00000388866	ensembl	human	known	69_37n	missense	224	12.84	33	SNP	0.845	C
NPAP1	23742	genome.wustl.edu	37	15	24922626	24922626	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:24922626A>C	ENST00000329468.2	+	1	2086	c.1612A>C	c.(1612-1614)Acc>Ccc	p.T538P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	538					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCCCTTCCACCGGGACCTC	0.527																																						dbGAP											0													179.0	178.0	179.0					15																	24922626		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1612A>C	15.37:g.24922626A>C	ENSP00000333735:p.Thr538Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T538P	ENST00000329468.2	37	c.1612	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	12.20	1.866409	0.32977	.	.	ENSG00000185823	ENST00000329468	T	0.07021	3.23	1.82	-0.665	0.11403	.	1.241270	0.06047	N	0.655962	T	0.12732	0.0309	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.57911	0.829	T	0.27297	-1.0078	10	0.33940	T	0.23	.	4.3061	0.10947	0.6069:0.0:0.3931:0.0	.	538	Q9NZP6	CO002_HUMAN	P	538	ENSP00000333735:T538P	ENSP00000333735:T538P	T	+	1	0	C15orf2	22473719	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	0.078000	0.14761	-0.187000	0.10516	0.172000	0.16884	ACC	NPAP1	-	NULL	ENSG00000185823		0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	297	0.67	2	A	NM_018958		24922626	24922626	+1	no_errors	ENST00000329468	ensembl	human	known	69_37n	missense	204	16.87	42	SNP	0.000	C
NPAP1	23742	genome.wustl.edu	37	15	24922852	24922852	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:24922852A>C	ENST00000329468.2	+	1	2312	c.1838A>C	c.(1837-1839)cAc>cCc	p.H613P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GAGCAGAGGCACCCGGGAAAG	0.468																																						dbGAP											0													86.0	98.0	94.0					15																	24922852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1838A>C	15.37:g.24922852A>C	ENSP00000333735:p.His613Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H613P	ENST00000329468.2	37	c.1838	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	1.975	-0.435631	0.04669	.	.	ENSG00000185823	ENST00000329468	T	0.06768	3.26	1.68	-3.37	0.04898	.	3.169720	0.01352	N	0.011945	T	0.05410	0.0143	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.29397	-1.0013	10	0.38643	T	0.18	.	0.7071	0.00918	0.242:0.2415:0.3312:0.1853	.	613	Q9NZP6	CO002_HUMAN	P	613	ENSP00000333735:H613P	ENSP00000333735:H613P	H	+	2	0	C15orf2	22473945	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.719000	0.04974	-1.924000	0.01064	0.172000	0.16884	CAC	NPAP1	-	NULL	ENSG00000185823		0.468	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	212	0.93	2	A	NM_018958		24922852	24922852	+1	no_errors	ENST00000329468	ensembl	human	known	69_37n	missense	102	12.82	15	SNP	0.000	C
NPAP1	23742	genome.wustl.edu	37	15	24923496	24923496	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:24923496A>C	ENST00000329468.2	+	1	2956	c.2482A>C	c.(2482-2484)Acc>Ccc	p.T828P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	828					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CATGAATACCACCCCTCCTTC	0.498																																						dbGAP											0													143.0	132.0	136.0					15																	24923496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2482A>C	15.37:g.24923496A>C	ENSP00000333735:p.Thr828Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T828P	ENST00000329468.2	37	c.2482	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	12.72	2.021460	0.35701	.	.	ENSG00000185823	ENST00000329468	T	0.07444	3.19	1.99	0.756	0.18421	.	.	.	.	.	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B	0.18968	0.032	B	0.10450	0.005	T	0.43845	-0.9366	9	0.23302	T	0.38	.	4.8004	0.13294	0.6722:0.3278:0.0:0.0	.	828	Q9NZP6	CO002_HUMAN	P	828	ENSP00000333735:T828P	ENSP00000333735:T828P	T	+	1	0	C15orf2	22474589	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-0.290000	0.08354	0.191000	0.20236	0.438000	0.28831	ACC	NPAP1	-	NULL	ENSG00000185823		0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	148	0.00	0	A	NM_018958		24923496	24923496	+1	no_errors	ENST00000329468	ensembl	human	known	69_37n	missense	100	20.47	26	SNP	0.001	C
NOX5	79400	genome.wustl.edu	37	15	69331302	69331302	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:69331302A>C	ENST00000388866.3	+	9	1518	c.1477A>C	c.(1477-1479)Acc>Ccc	p.T493P	NOX5_ENST00000260364.5_Missense_Mutation_p.T475P|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.T465P|NOX5_ENST00000448182.3_Missense_Mutation_p.T447P|NOX5_ENST00000455873.3_Missense_Mutation_p.T458P	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	493	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCACCCCTTCACCATCAGCAG	0.517																																						dbGAP											0													228.0	205.0	213.0					15																	69331302		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1477A>C	15.37:g.69331302A>C	ENSP00000373518:p.Thr493Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T493P	ENST00000388866.3	37	c.1477	CCDS32276.2	15	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849720	0.51270	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.19250	2.16;2.16;2.16	3.43	3.43	0.39272	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.058220	0.64402	D	0.000002	T	0.56352	0.1979	H	0.96365	3.81	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.978;0.993;0.978	T	0.67941	-0.5540	10	0.87932	D	0	-22.7027	10.7243	0.46059	1.0:0.0:0.0:0.0	.	458;493;465	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	P	458;475;493;465	ENSP00000416828:T458P;ENSP00000373518:T493P;ENSP00000432440:T465P	ENSP00000373518:T493P	T	+	1	0	NOX5	67118356	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	7.292000	0.78731	1.212000	0.43366	0.260000	0.18958	ACC	NOX5	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000255346		0.517	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	HGNC	protein_coding	OTTHUMT00000257124.2	234	0.43	1	A	NM_024505		69331302	69331302	+1	no_errors	ENST00000388866	ensembl	human	known	69_37n	missense	202	13.62	32	SNP	1.000	C
NPEPPS	9520	genome.wustl.edu	37	17	45699243	45699243	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45699243A>C	ENST00000322157.4	+	23	2954	c.2717A>C	c.(2716-2718)cAc>cCc	p.H906P	NPEPPS_ENST00000530173.1_Missense_Mutation_p.H902P|NPEPPS_ENST00000544660.1_Missense_Mutation_p.H826P|RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000584391.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	906					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGAGCATCCACCAGTACCTC	0.562																																						dbGAP											0													49.0	48.0	49.0					17																	45699243		1990	4182	6172	-	-	-	SO:0001583	missense	0			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2717A>C	17.37:g.45699243A>C	ENSP00000320324:p.His906Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H906P	ENST00000322157.4	37	c.2717	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127987	0.37533	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660;ENST00000528565	T;T;T;T	0.43294	5.08;5.08;4.95;0.95	5.94	5.94	0.96194	.	0.102964	0.64402	D	0.000003	T	0.34890	0.0913	L	0.34521	1.04	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07009	-1.0795	10	0.29301	T	0.29	.	16.3947	0.83586	1.0:0.0:0.0:0.0	.	902;906	E9PLK3;P55786	.;PSA_HUMAN	P	902;906;826;156	ENSP00000433287:H902P;ENSP00000320324:H906P;ENSP00000442461:H826P;ENSP00000433549:H156P	ENSP00000320324:H906P	H	+	2	0	NPEPPS	43054242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.115000	0.94336	2.272000	0.75746	0.459000	0.35465	CAC	NPEPPS	-	NULL	ENSG00000141279		0.562	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	65	0.00	0	A	NM_006310		45699243	45699243	+1	no_errors	ENST00000322157	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	1.000	C
NPHP3	27031	genome.wustl.edu	37	3	132410049	132410049	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:132410049T>G	ENST00000337331.5	-	18	2643	c.2557A>C	c.(2557-2559)Acc>Ccc	p.T853P	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	853					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGCAAGGTGAAATAGTTG	0.398																																						dbGAP											0													223.0	226.0	225.0					3																	132410049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2557A>C	3.37:g.132410049T>G	ENSP00000338766:p.Thr853Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T853P	ENST00000337331.5	37	c.2557	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	T	13.91	2.376819	0.42105	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91124	-2.79	4.55	3.33	0.38152	.	0.275720	0.40222	N	0.001148	D	0.85792	0.5779	L	0.51422	1.61	0.80722	D	1	B	0.21147	0.052	B	0.16289	0.015	T	0.78902	-0.2021	10	0.32370	T	0.25	-4.784	9.8011	0.40764	0.0:0.084:0.0:0.916	.	853	Q7Z494	NPHP3_HUMAN	P	133;853	ENSP00000338766:T853P	ENSP00000338766:T853P	T	-	1	0	NPHP3	133892739	1.000000	0.71417	0.953000	0.39169	0.845000	0.48019	2.563000	0.45922	0.648000	0.30732	0.460000	0.39030	ACC	NPHP3	-	NULL	ENSG00000113971		0.398	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	224	0.00	0	T	NM_153240		132410049	132410049	-1	no_errors	ENST00000337331	ensembl	human	known	69_37n	missense	236	14.49	40	SNP	1.000	G
NPHS1	4868	genome.wustl.edu	37	19	36334456	36334456	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:36334456A>C	ENST00000378910.5	-	17	2251	c.2252T>G	c.(2251-2253)gTg>gGg	p.V751G	NPHS1_ENST00000353632.6_Missense_Mutation_p.V751G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	751	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGACGTTCACCTCAGTGGG	0.602																																						dbGAP											0													117.0	101.0	106.0					19																	36334456		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2252T>G	19.37:g.36334456A>C	ENSP00000368190:p.Val751Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V751G	ENST00000378910.5	37	c.2252	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862505	0.71949	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.17054	2.3;2.3	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56341	-0.7995	10	0.72032	D	0.01	-19.7727	11.5151	0.50515	1.0:0.0:0.0:0.0	.	751	O60500	NPHN_HUMAN	G	751	ENSP00000368190:V751G;ENSP00000343634:V751G	ENSP00000343634:V751G	V	-	2	0	NPHS1	41026296	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	6.194000	0.72082	2.048000	0.60808	0.374000	0.22700	GTG	NPHS1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000161270		0.602	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	104	0.00	0	A			36334456	36334456	-1	no_errors	ENST00000378910	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	1.000	C
PDXDC1	23042	genome.wustl.edu	37	16	15198433	15198433	+	Intron	SNP	T	T	G	rs200278971		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:15198433T>G	ENST00000535621.2	+	17	1587				RP11-72I8.1_ENST00000569858.1_RNA|NPIPP1_ENST00000534799.2_RNA|RP11-1186N24.5_ENST00000605794.1_RNA			Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGCTGAGGGTGGAAGGGGAT	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-34303T>G	16.37:g.15198433T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_NPIP	p.H317P	ENST00000535621.2	37	c.950		16	.	.	.	.	.	.	.	.	.	.	.	1.450	-0.565186	0.03939	.	.	ENSG00000188599	ENST00000534799	.	.	.	.	.	.	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	.	.	.	P	317	.	.	H	-	2	0	NPIPP1	15105934	0.074000	0.21230	0.065000	0.19835	0.065000	0.16274	0.056000	0.14256	0.077000	0.16863	0.076000	0.15429	CAC	NPIPP1	-	pfam_NPIP	ENSG00000188599		0.547	PDXDC1-016	PUTATIVE	basic	protein_coding	NPIPP1	HGNC	protein_coding	OTTHUMT00000422421.1	198	0.00	0	T	NM_015027		15198433	15198433	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000534799	ensembl	human	putative	69_37n	missense	170	18.66	39	SNP	0.066	G
NPIPB15	440348	genome.wustl.edu	37	16	74425471	74425471	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:74425471A>C	ENST00000429990.1	+	7	921	c.825A>C	c.(823-825)ccA>ccC	p.P275P				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	275	Pro-rich.					extracellular region (GO:0005576)											ATCCCCTTCCACCCTCAGTGG	0.517																																						dbGAP											0													146.0	144.0	145.0					16																	74425471		2181	4286	6467	-	-	-	SO:0001819	synonymous_variant	0			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.825A>C	16.37:g.74425471A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J9U8	Silent	SNP	pfam_NPIP	p.P275	ENST00000429990.1	37	c.825		16																																																																																			NPIPL2	-	pfam_NPIP	ENSG00000196436		0.517	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NPIPL2	HGNC	protein_coding	OTTHUMT00000346597.2	385	0.52	2	A	NM_001018059		74425471	74425471	+1	no_errors	ENST00000429990	ensembl	human	known	69_37n	silent	311	13.37	48	SNP	0.000	C
NPR2	4882	genome.wustl.edu	37	9	35800770	35800770	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35800770T>G	ENST00000342694.2	+	6	1538	c.1283T>G	c.(1282-1284)gTg>gGg	p.V428G		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	428					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATTCCCTGGGTGAAGGGGGCT	0.597																																						dbGAP											0													91.0	82.0	85.0					9																	35800770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1283T>G	9.37:g.35800770T>G	ENSP00000341083:p.Val428Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.V428G	ENST00000342694.2	37	c.1283	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402448	0.42613	.	.	ENSG00000159899	ENST00000342694	T	0.74209	-0.82	4.71	4.71	0.59529	.	0.000000	0.40818	N	0.001005	T	0.67961	0.2949	L	0.47190	1.495	0.53688	D	0.999973	B;B	0.24317	0.101;0.034	B;B	0.28011	0.085;0.028	T	0.63857	-0.6542	10	0.25106	T	0.35	.	13.5214	0.61569	0.0:0.0:0.0:1.0	.	428;428	P20594-2;P20594	.;ANPRB_HUMAN	G	428	ENSP00000341083:V428G	ENSP00000341083:V428G	V	+	2	0	NPR2	35790770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.349000	0.44054	1.981000	0.57761	0.460000	0.39030	GTG	NPR2	-	NULL	ENSG00000159899		0.597	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	140	0.70	1	T			35800770	35800770	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	missense	173	13.07	26	SNP	1.000	G
NPVF	64111	genome.wustl.edu	37	7	25266291	25266291	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:25266291T>G	ENST00000222674.2	-	2	539	c.493A>C	c.(493-495)Acc>Ccc	p.T165P		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	165					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGCTGGCAGGTCATGGAGTAA	0.443																																						dbGAP											0													229.0	211.0	217.0					7																	25266291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.493A>C	7.37:g.25266291T>G	ENSP00000222674:p.Thr165Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.T165P	ENST00000222674.2	37	c.493	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057548	0.36277	.	.	ENSG00000105954	ENST00000222674	T	0.26518	1.73	5.67	0.602	0.17535	.	0.851950	0.10406	N	0.678463	T	0.28962	0.0719	L	0.50333	1.59	0.09310	N	1	D	0.53151	0.958	P	0.51229	0.663	T	0.15780	-1.0425	10	0.66056	D	0.02	-0.1781	4.2495	0.10688	0.1467:0.3036:0.0:0.5497	.	165	Q9HCQ7	RFRP_HUMAN	P	165	ENSP00000222674:T165P	ENSP00000222674:T165P	T	-	1	0	NPVF	25232816	0.000000	0.05858	0.056000	0.19401	0.579000	0.36224	-0.461000	0.06712	0.154000	0.19237	0.533000	0.62120	ACC	NPVF	-	NULL	ENSG00000105954		0.443	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	312	0.32	1	T	NM_022150		25266291	25266291	-1	no_errors	ENST00000222674	ensembl	human	known	69_37n	missense	267	15.46	49	SNP	0.072	G
NPVF	64111	genome.wustl.edu	37	7	25266322	25266322	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:25266322T>G	ENST00000222674.2	-	2	508	c.462A>C	c.(460-462)tcA>tcC	p.S154S		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	154					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGGCACATGGTGAATGCATGG	0.453																																						dbGAP											0													254.0	234.0	241.0					7																	25266322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.462A>C	7.37:g.25266322T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D164|Q7LE27|Q96PI9	Silent	SNP	NULL	p.S154	ENST00000222674.2	37	c.462	CCDS5395.1	7																																																																																			NPVF	-	NULL	ENSG00000105954		0.453	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	326	0.00	0	T	NM_022150		25266322	25266322	-1	no_errors	ENST00000222674	ensembl	human	known	69_37n	silent	285	10.06	32	SNP	0.002	G
NR1H3	10062	genome.wustl.edu	37	11	47283156	47283156	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:47283156A>C	ENST00000467728.1	+	5	2005	c.767A>C	c.(766-768)cAc>cCc	p.H256P	NR1H3_ENST00000481889.2_Missense_Mutation_p.H211P|NR1H3_ENST00000395397.3_Missense_Mutation_p.H211P|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.H256P|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000405853.3_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	256	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CGCTTTGCCCACTTCACTGAG	0.597																																						dbGAP											0													70.0	69.0	69.0					11																	47283156		2201	4298	6499	-	-	-	SO:0001583	missense	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.767A>C	11.37:g.47283156A>C	ENSP00000420656:p.His256Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt	p.H256P	ENST00000467728.1	37	c.767	CCDS7929.1	11	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630119	0.87660	.	.	ENSG00000025434	ENST00000395397;ENST00000481889;ENST00000441012;ENST00000467728	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.77	5.77	0.91146	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.047461	0.85682	D	0.000000	D	0.98267	0.9426	M	0.86343	2.81	0.80722	D	1	D;P;P	0.71674	0.998;0.809;0.927	D;D;P	0.81914	0.995;0.955;0.888	D	0.99316	1.0905	10	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	262;256;211	B4DXU5;Q13133;E9PLL4	.;NR1H3_HUMAN;.	P	211;211;256;256	ENSP00000378793:H211P;ENSP00000433271:H211P;ENSP00000387946:H256P;ENSP00000420656:H256P	ENSP00000378793:H211P	H	+	2	0	NR1H3	47239732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	CAC	NR1H3	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_rcpt	ENSG00000025434		0.597	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	62	0.00	0	A			47283156	47283156	+1	no_errors	ENST00000441012	ensembl	human	known	69_37n	missense	111	11.90	15	SNP	1.000	C
NR4A3	8013	genome.wustl.edu	37	9	102589061	102589061	+	Intron	SNP	C	C	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:102589061C>G	ENST00000395097.2	+	2	727				NR4A3_ENST00000338488.4_Intron|NR4A3_ENST00000330847.1_Missense_Mutation_p.D3E	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3						gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACATGCATGACTCAATCAGAT	0.403			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	0													143.0	126.0	132.0					9																	102589061		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.-3+947C>G	9.37:g.102589061C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.D3E	ENST00000395097.2	37	c.9	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057530	0.36277	.	.	ENSG00000119508	ENST00000330847	D	0.91124	-2.79	5.18	4.21	0.49690	.	0.178740	0.27043	N	0.021212	D	0.82907	0.5139	.	.	.	0.27978	N	0.936143	B	0.28971	0.229	B	0.32289	0.143	T	0.71041	-0.4707	9	0.21014	T	0.42	.	10.0218	0.42048	0.215:0.785:0.0:0.0	.	3	Q92570-3	.	E	3	ENSP00000333122:D3E	ENSP00000333122:D3E	D	+	3	2	NR4A3	101628882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.203000	0.32284	2.688000	0.91661	0.655000	0.94253	GAC	NR4A3	-	NULL	ENSG00000119508		0.403	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	66	0.00	0	C			102589061	102589061	+1	no_errors	ENST00000330847	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	1.000	G
NRBP1	29959	genome.wustl.edu	37	2	27663995	27663995	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27663995T>G	ENST00000233557.3	+	16	2163	c.1331T>G	c.(1330-1332)gTg>gGg	p.V444G	KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Splice_Site_p.V444G|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379863.3_Splice_Site_p.V452G|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	444					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCTCCCTAGGTGGTGCTGATG	0.552																																						dbGAP											0													249.0	244.0	246.0					2																	27663995		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1330-1T>G	2.37:g.27663995T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	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,pfscan_Prot_kinase_cat_dom	p.V444G	ENST00000233557.3	37	c.1331	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212605	0.79240	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.38077	1.16;1.16;1.16	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70716	0.945;0.97;0.934	T	0.64580	-0.6374	10	0.87932	D	0	-13.2683	14.5538	0.68086	0.0:0.0:0.0:1.0	.	424;452;444	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	G	444;424;444;452	ENSP00000233557:V444G;ENSP00000369181:V444G;ENSP00000369192:V452G	ENSP00000233557:V444G	V	+	2	0	NRBP1	27517499	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.106000	0.71511	2.113000	0.64589	0.459000	0.35465	GTG	NRBP1	-	NULL	ENSG00000115216		0.552	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	347	0.57	2	T	NM_013392	Missense_Mutation	27663995	27663995	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	missense	243	10.33	28	SNP	1.000	G
NRF1	4899	genome.wustl.edu	37	7	129330345	129330345	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:129330345A>C	ENST00000393232.1	+	5	682	c.565A>C	c.(565-567)Acc>Ccc	p.T189P	NRF1_ENST00000393231.3_Missense_Mutation_p.T189P|NRF1_ENST00000311967.2_Missense_Mutation_p.T189P|NRF1_ENST00000539636.1_Missense_Mutation_p.T28P|NRF1_ENST00000353868.4_Missense_Mutation_p.T189P|NRF1_ENST00000223190.4_Missense_Mutation_p.T189P|NRF1_ENST00000393230.2_Missense_Mutation_p.T189P	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	189					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCCGCCTCTCACCATCGACGG	0.582																																						dbGAP											0													98.0	80.0	86.0					7																	129330345		2203	4300	6503	-	-	-	SO:0001583	missense	0			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.565A>C	7.37:g.129330345A>C	ENSP00000376924:p.Thr189Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd	p.T189P	ENST00000393232.1	37	c.565	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887084	0.91814	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.43	5.43	0.79202	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68621	0.939;0.959	T	0.63594	-0.6602	9	0.72032	D	0.01	-16.2473	14.657	0.68841	1.0:0.0:0.0:0.0	.	189;189	Q96AN2;Q16656	.;NRF1_HUMAN	P	189;189;28;189;189;189;189;189	.	ENSP00000223190:T189P	T	+	1	0	NRF1	129117581	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.090000	0.94144	2.066000	0.61787	0.528000	0.53228	ACC	NRF1	-	pfam_Nrf1_NLS/DNA-bd_dimer	ENSG00000106459		0.582	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	HGNC	protein_coding	OTTHUMT00000289813.1	184	0.54	1	A	NM_001040110		129330345	129330345	+1	no_errors	ENST00000393231	ensembl	human	known	69_37n	missense	193	17.52	41	SNP	1.000	C
NRIP1	8204	genome.wustl.edu	37	21	16337417	16337417	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:16337417A>C	ENST00000400202.1	-	3	3809	c.3097T>G	c.(3097-3099)Tgt>Ggt	p.C1033G	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.C1033G|NRIP1_ENST00000318948.4_Missense_Mutation_p.C1033G			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1033	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGCATGGAACACCCATTCAAA	0.463																																						dbGAP											0													63.0	61.0	62.0					21																	16337417		2202	4299	6501	-	-	-	SO:0001583	missense	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3097T>G	21.37:g.16337417A>C	ENSP00000383063:p.Cys1033Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWE8	Missense_Mutation	SNP	NULL	p.C1033G	ENST00000400202.1	37	c.3097	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521427	0.44866	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.09073	3.02;3.02;3.02	5.61	3.15	0.36227	.	0.284470	0.34338	N	0.004059	T	0.10035	0.0246	L	0.50333	1.59	0.43088	D	0.994758	B	0.12630	0.006	B	0.12156	0.007	T	0.06661	-1.0814	10	0.54805	T	0.06	-9.6048	12.8564	0.57888	0.7711:0.2289:0.0:0.0	.	1033	P48552	NRIP1_HUMAN	G	1033	ENSP00000383060:C1033G;ENSP00000383063:C1033G;ENSP00000327213:C1033G	ENSP00000327213:C1033G	C	-	1	0	NRIP1	15259288	0.997000	0.39634	0.110000	0.21437	0.969000	0.65631	3.456000	0.53000	0.452000	0.26830	0.533000	0.62120	TGT	NRIP1	-	NULL	ENSG00000180530		0.463	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	153	0.00	0	A	NM_003489		16337417	16337417	-1	no_errors	ENST00000318948	ensembl	human	known	69_37n	missense	109	16.15	21	SNP	0.972	C
NRK	203447	genome.wustl.edu	37	X	105167111	105167111	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:105167111T>G	ENST00000243300.9	+	18	2915	c.2612T>G	c.(2611-2613)gTt>gGt	p.V871G	NRK_ENST00000428173.2_Splice_Site_p.V872G	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	871					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCACACAGGTTCCAGATGGA	0.363										HNSCC(51;0.14)																												dbGAP											0													115.0	105.0	108.0					X																	105167111		1849	4087	5936	-	-	-	SO:0001630	splice_region_variant	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2611-1T>G	X.37:g.105167111T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.V872G	ENST00000243300.9	37	c.2615		X	.	.	.	.	.	.	.	.	.	.	T	17.12	3.309409	0.60414	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79454	-1.26;-1.27	4.47	1.93	0.25924	.	0.000000	0.35407	N	0.003239	T	0.62405	0.2425	N	0.24115	0.695	0.80722	D	1	B;B	0.32573	0.376;0.064	B;B	0.38616	0.277;0.038	T	0.62685	-0.6802	10	0.87932	D	0	.	3.165	0.06533	0.0:0.1326:0.2493:0.618	.	539;871	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	G	871;872	ENSP00000434830:V871G;ENSP00000438378:V872G	ENSP00000434830:V871G	V	+	2	0	NRK	105053767	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.271000	0.33098	1.569000	0.49696	0.486000	0.48141	GTT	NRK	-	NULL	ENSG00000123572		0.363	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	417	0.24	1	T	NM_198465	Missense_Mutation	105167111	105167111	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	missense	294	12.17	41	SNP	1.000	G
NRK	203447	genome.wustl.edu	37	X	105167223	105167223	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:105167223A>C	ENST00000243300.9	+	18	3027	c.2724A>C	c.(2722-2724)gcA>gcC	p.A908A	NRK_ENST00000428173.2_Silent_p.A909A	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	908					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAACTCCGGCACCTGTCATTC	0.413										HNSCC(51;0.14)																												dbGAP											0													68.0	65.0	66.0					X																	105167223		2020	4154	6174	-	-	-	SO:0001819	synonymous_variant	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2724A>C	X.37:g.105167223A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.A909	ENST00000243300.9	37	c.2727		X																																																																																			NRK	-	NULL	ENSG00000123572		0.413	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	275	0.36	1	A	NM_198465		105167223	105167223	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	silent	178	17.89	39	SNP	0.891	C
NRP1	8829	genome.wustl.edu	37	10	33502422	33502422	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:33502422A>C	ENST00000265371.4	-	10	2031	c.1506T>G	c.(1504-1506)ggT>ggG	p.G502G	NRP1_ENST00000374867.2_Silent_p.G502G|NRP1_ENST00000374816.3_Silent_p.G502G|NRP1_ENST00000374822.4_Silent_p.G502G|NRP1_ENST00000374823.5_Silent_p.G502G|NRP1_ENST00000374821.5_Silent_p.G502G|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Silent_p.G502G|NRP1_ENST00000374875.1_Silent_p.G321G|NRP1_ENST00000432372.2_Silent_p.G502G			O14786	NRP1_HUMAN	neuropilin 1	502	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTGCTTCCCACCCTGAATGA	0.532																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											0													216.0	184.0	195.0					10																	33502422		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1506T>G	10.37:g.33502422A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.G502	ENST00000265371.4	37	c.1506	CCDS7177.1	10																																																																																			NRP1	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000099250		0.532	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	319	0.31	1	A			33502422	33502422	-1	no_errors	ENST00000265371	ensembl	human	known	69_37n	silent	286	13.55	45	SNP	0.300	C
NRXN1	9378	genome.wustl.edu	37	2	50318496	50318496	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:50318496A>C	ENST00000406316.2	-	19	5159	c.3683T>G	c.(3682-3684)gTg>gGg	p.V1228G	NRXN1_ENST00000401710.1_Missense_Mutation_p.V246G|NRXN1_ENST00000404971.1_Missense_Mutation_p.V1268G|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1220G|NRXN1_ENST00000342183.5_Missense_Mutation_p.V193G|NRXN1_ENST00000406859.3_Missense_Mutation_p.V1228G|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1220G|NRXN1_ENST00000401669.2_Missense_Mutation_p.V1228G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1228	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGCTGTCCACCTGCAACGT	0.453																																						dbGAP											0													241.0	215.0	223.0					2																	50318496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3683T>G	2.37:g.50318496A>C	ENSP00000384311:p.Val1228Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1220G	ENST00000406316.2	37	c.3659	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493022	0.84962	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D;D;D	0.86769	-2.03;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.129160	0.29660	U	0.011539	D	0.94608	0.8262	M	0.90082	3.085	0.80722	D	1	D;D;P;P	0.89917	0.999;1.0;0.623;0.913	D;D;B;D	0.85130	0.997;0.993;0.367;0.979	D	0.95572	0.8639	10	0.87932	D	0	.	15.6533	0.77115	1.0:0.0:0.0:0.0	.	1268;193;1228;1220	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	G	193;147;246;1268;1228;1220;1228;1269;1220;1228	ENSP00000341184:V193G;ENSP00000385580:V246G;ENSP00000385142:V1268G;ENSP00000384311:V1228G;ENSP00000434015:V1220G;ENSP00000385017:V1228G;ENSP00000385434:V1220G;ENSP00000385681:V1228G	ENSP00000341184:V193G	V	-	2	0	NRXN1	50172000	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.100000	0.63781	0.460000	0.39030	GTG	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	199	0.00	0	A			50318496	50318496	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	missense	148	13.45	23	SNP	1.000	C
NRXN3	9369	genome.wustl.edu	37	14	80164019	80164019	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:80164019T>G	ENST00000557594.1	+	4	1601	c.648T>G	c.(646-648)ggT>ggG	p.G216G	NRXN3_ENST00000335750.5_Silent_p.G848G|NRXN3_ENST00000428277.2_Silent_p.G246G|NRXN3_ENST00000556003.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Silent_p.G216G|NRXN3_ENST00000554719.1_Silent_p.G848G	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	216	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TAGCCATTGGTGGAAAGGACA	0.463																																						dbGAP											0													79.0	75.0	76.0					14																	80164019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.648T>G	14.37:g.80164019T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.G1240	ENST00000557594.1	37	c.3720		14																																																																																			NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.463	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	189	0.00	0	T	NM_001105250		80164019	80164019	+1	no_errors	ENST00000554738	ensembl	human	known	69_37n	silent	90	14.15	15	SNP	0.662	G
NSRP1	84081	genome.wustl.edu	37	17	28512344	28512344	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:28512344T>G	ENST00000247026.5	+	7	1392	c.1329T>G	c.(1327-1329)ggT>ggG	p.G443G	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	443					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGAGGTAGGTGTTCAGTCTT	0.353																																						dbGAP											0													63.0	62.0	62.0					17																	28512344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1329T>G	17.37:g.28512344T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI71	Silent	SNP	pfam_DUF2040	p.G443	ENST00000247026.5	37	c.1329	CCDS11255.1	17																																																																																			NSRP1	-	NULL	ENSG00000126653		0.353	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	258	0.77	2	T	NM_032141		28512344	28512344	+1	no_errors	ENST00000247026	ensembl	human	known	69_37n	silent	207	22.76	61	SNP	0.000	G
NT5DC3	51559	genome.wustl.edu	37	12	104179221	104179221	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:104179221A>C	ENST00000392876.3	-	12	1261	c.1221T>G	c.(1219-1221)ggT>ggG	p.G407G		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	407						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGATGATTGCACCAGTCCTCC	0.438																																						dbGAP											0													187.0	154.0	165.0					12																	104179221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1221T>G	12.37:g.104179221A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.G407	ENST00000392876.3	37	c.1221	CCDS41824.1	12																																																																																			NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000111696		0.438	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	119	0.83	1	A	NM_016575		104179221	104179221	-1	no_errors	ENST00000392876	ensembl	human	known	69_37n	silent	112	20.57	29	SNP	0.044	C
NTRK3	4916	genome.wustl.edu	37	15	88522401	88522401	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:88522401T>G	ENST00000360948.2	-	14	1747				NTRK3_ENST00000317501.3_3'UTR|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_3'UTR|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000557856.1_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCCAGTGGTGGATGGGGGA	0.532			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0																																										-	-	-	SO:0001627	intron_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-38417A>C	15.37:g.88522401T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	RNA	SNP	-	NULL	ENST00000360948.2	37	NULL	CCDS32322.1	15																																																																																			NTRK3	-	-	ENSG00000140538		0.532	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		36	0.00	0	T			88522401	88522401	-1	no_errors	ENST00000558306	ensembl	human	putative	69_37n	rna	34	25.53	12	SNP	0.006	G
NTRK3	4916	genome.wustl.edu	37	15	88522426	88522426	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:88522426T>G	ENST00000360948.2	-	14	1747				NTRK3_ENST00000317501.3_3'UTR|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_3'UTR|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000557856.1_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCCATCTGGTGGTGTTAAAG	0.562			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0																																										-	-	-	SO:0001627	intron_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-38442A>C	15.37:g.88522426T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	RNA	SNP	-	NULL	ENST00000360948.2	37	NULL	CCDS32322.1	15																																																																																			NTRK3	-	-	ENSG00000140538		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		42	0.00	0	T			88522426	88522426	-1	no_errors	ENST00000558306	ensembl	human	putative	69_37n	rna	45	21.05	12	SNP	0.012	G
NUP214	8021	genome.wustl.edu	37	9	134019777	134019777	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:134019777A>C	ENST00000359428.5	+	12	1549	c.1405A>C	c.(1405-1407)Act>Cct	p.T469P	RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.T469P|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T469P			P35658	NU214_HUMAN	nucleoporin 214kDa	469					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCCATTGCCACTTTTTCTTT	0.552			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													261.0	263.0	262.0					9																	134019777		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1405A>C	9.37:g.134019777A>C	ENSP00000352400:p.Thr469Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.T469P	ENST00000359428.5	37	c.1405	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	A	16.16	3.043444	0.55003	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899	T;T;T	0.77098	-1.07;-1.07;-1.07	5.72	0.082	0.14427	.	0.360751	0.20212	N	0.096877	T	0.49236	0.1545	N	0.08118	0	0.24055	N	0.996034	B;B	0.14438	0.004;0.01	B;B	0.11329	0.004;0.006	T	0.28933	-1.0028	10	0.39692	T	0.17	-12.6574	0.4605	0.00515	0.4152:0.1476:0.1517:0.2855	.	469;469	P35658-4;P35658	.;NU214_HUMAN	P	469;469;469;469;62	ENSP00000352400:T469P;ENSP00000396576:T469P;ENSP00000405014:T469P	ENSP00000352400:T469P	T	+	1	0	NUP214	133009598	0.033000	0.19621	0.933000	0.37362	0.593000	0.36681	0.155000	0.16362	0.370000	0.24538	0.533000	0.62120	ACT	NUP214	-	NULL	ENSG00000126883		0.552	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	810	0.73	6	A	NM_005085		134019777	134019777	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	656	16.60	132	SNP	0.477	C
NUP214	8021	genome.wustl.edu	37	9	134021645	134021645	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:134021645A>C	ENST00000359428.5	+	13	2043	c.1899A>C	c.(1897-1899)ccA>ccC	p.P633P	RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Silent_p.P622P|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Silent_p.P633P			P35658	NU214_HUMAN	nucleoporin 214kDa	633	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTCAGCACCACCTAGTTCCG	0.542			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													363.0	313.0	330.0					9																	134021645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1899A>C	9.37:g.134021645A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	smart_WD40_repeat	p.P633	ENST00000359428.5	37	c.1899	CCDS6940.1	9																																																																																			NUP214	-	NULL	ENSG00000126883		0.542	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	559	0.36	2	A	NM_005085		134021645	134021645	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	silent	412	14.26	69	SNP	0.000	C
NUP88	4927	genome.wustl.edu	37	17	5291156	5291156	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:5291156A>C	ENST00000573584.1	-	12	2221	c.1712T>G	c.(1711-1713)gTg>gGg	p.V571G	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	571					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTCTCTGAACACCTGGGTGGC	0.473																																						dbGAP											0													86.0	86.0	86.0					17																	5291156		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1712T>G	17.37:g.5291156A>C	ENSP00000458954:p.Val571Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.V571G	ENST00000573584.1	37	c.1712	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818156	0.71028	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.76	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.67953	2.075	0.80722	D	1	D;D	0.57257	0.979;0.964	P;P	0.57204	0.815;0.666	T	0.63786	-0.6558	9	0.37606	T	0.19	-16.2442	9.8323	0.40950	0.9188:0.0:0.0812:0.0	.	456;571	B4DP20;Q99567	.;NUP88_HUMAN	G	571;456	.	ENSP00000225696:V571G	V	-	2	0	NUP88	5231880	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.167000	0.89668	0.965000	0.38133	0.454000	0.30748	GTG	NUP88	-	pfam_Nucleoporin_Nup88	ENSG00000108559		0.473	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	107	0.00	0	A	NM_002532		5291156	5291156	-1	no_errors	ENST00000573584	ensembl	human	known	69_37n	missense	81	18.81	19	SNP	1.000	C
NUPL1	9818	genome.wustl.edu	37	13	25912953	25912953	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:25912953A>C	ENST00000381736.3	+	15	1880				NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Intron	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ATTTCCAGTAACCCAAAAAGT	0.358																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1630+84A>C	13.37:g.25912953A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	RNA	SNP	-	NULL	ENST00000381736.3	37	NULL	CCDS9314.1	13																																																																																			NUPL1	-	-	ENSG00000139496		0.358	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	47	0.00	0	A			25912953	25912953	+1	no_errors	ENST00000466694	ensembl	human	putative	69_37n	rna	33	13.16	5	SNP	0.001	C
NWD1	284434	genome.wustl.edu	37	19	16870217	16870217	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:16870217A>C	ENST00000552788.1	+	5	1951	c.1951A>C	c.(1951-1953)Acc>Ccc	p.T651P	NWD1_ENST00000523826.1_Missense_Mutation_p.T445P|NWD1_ENST00000379808.3_Missense_Mutation_p.T651P|NWD1_ENST00000339803.6_Missense_Mutation_p.T516P|NWD1_ENST00000524140.2_Missense_Mutation_p.T651P|NWD1_ENST00000549814.1_Missense_Mutation_p.T651P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	651	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGATGGCTTCACCCTCCTGGC	0.667																																						dbGAP											0													23.0	21.0	21.0					19																	16870217		2198	4286	6484	-	-	-	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1951A>C	19.37:g.16870217A>C	ENSP00000447224:p.Thr651Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T651P	ENST00000552788.1	37	c.1951		19	.	.	.	.	.	.	.	.	.	.	A	8.592	0.884808	0.17540	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58652	0.32;0.37;0.32;0.33;0.37;0.37	4.44	2.1	0.27182	.	0.468479	0.22220	N	0.062964	T	0.51770	0.1694	L	0.47716	1.5	0.09310	N	0.999993	P;D;P	0.56035	0.956;0.974;0.906	P;P;B	0.48030	0.564;0.564;0.361	T	0.42344	-0.9457	10	0.45353	T	0.12	-0.8604	7.9553	0.30038	0.5843:0.4157:0.0:0.0	.	651;651;516	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	P	516;651;651;651;445;651;516	ENSP00000428579:T651P;ENSP00000447548:T651P;ENSP00000369136:T651P;ENSP00000428955:T445P;ENSP00000447224:T651P;ENSP00000340159:T516P	ENSP00000340159:T516P	T	+	1	0	NWD1	16731217	0.039000	0.19947	0.026000	0.17262	0.044000	0.14063	1.884000	0.39668	0.545000	0.28902	0.443000	0.29094	ACC	NWD1	-	NULL	ENSG00000188039		0.667	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	19	0.00	0	A	NM_001007525		16870217	16870217	+1	no_errors	ENST00000379808	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	0.293	C
NXF1	10482	genome.wustl.edu	37	11	62571388	62571388	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62571388A>C	ENST00000532297.1	-	3	720	c.91T>G	c.(91-93)Tgg>Ggg	p.W31G	NXF1_ENST00000294172.2_Missense_Mutation_p.W31G|NXF1_ENST00000439713.2_Missense_Mutation_p.W31G|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.W31G			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	31	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATATTTCCACCGGAAGGGA	0.468																																						dbGAP											0													145.0	150.0	149.0					11																	62571388		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.91T>G	11.37:g.62571388A>C	ENSP00000436679:p.Trp31Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.W31G	ENST00000532297.1	37	c.91	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	A	8.656	0.899418	0.17686	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.41400	1.04;1.04;1.0;1.04	4.82	4.82	0.62117	.	0.325138	0.27202	N	0.020456	T	0.16300	0.0392	N	0.02539	-0.55	0.37114	D	0.900501	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.18023	-1.0350	10	0.13108	T	0.6	-14.0861	8.6608	0.34091	0.807:0.193:0.0:0.0	.	74;44;31	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	G	31;31;74;31	ENSP00000294172:W31G;ENSP00000436679:W31G;ENSP00000435742:W74G;ENSP00000408864:W31G	ENSP00000294172:W31G	W	-	1	0	NXF1	62327964	0.977000	0.34250	1.000000	0.80357	0.990000	0.78478	2.285000	0.43487	2.026000	0.59711	0.533000	0.62120	TGG	NXF1	-	NULL	ENSG00000162231		0.468	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	227	0.87	2	A	NM_006362		62571388	62571388	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	140	13.58	22	SNP	1.000	C
NXF5	55998	genome.wustl.edu	37	X	101095499	101095499	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:101095499T>G	ENST00000361708.2	-	10	1029	c.670A>C	c.(670-672)Acc>Ccc	p.T224P	NXF5_ENST00000537026.1_Missense_Mutation_p.T224P|NXF5_ENST00000473265.2_Missense_Mutation_p.T224P			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	224					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCCGAGAAGGTGCTGCACAAC	0.577																																						dbGAP											0													98.0	84.0	89.0					X																	101095499		2137	4182	6319	-	-	-	SO:0001583	missense	0			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.670A>C	X.37:g.101095499T>G	ENSP00000355286:p.Thr224Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.T224P	ENST00000361708.2	37	c.670		X	.	.	.	.	.	.	.	.	.	.	.	12.96	2.093688	0.36952	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.55052	0.54;0.54;0.54	1.86	0.541	0.17168	.	0.798569	0.11387	U	0.569232	T	0.60573	0.2279	M	0.84846	2.72	0.09310	N	1	P	0.46327	0.876	P	0.50192	0.634	T	0.51631	-0.8681	10	0.48119	T	0.1	.	4.8433	0.13501	0.2868:0.0:0.0:0.7132	.	224	A2RRM0	.	P	224	ENSP00000442401:T224P;ENSP00000426978:T224P;ENSP00000355286:T224P	ENSP00000263032:T224P	T	-	1	0	NXF5	100982155	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.046000	0.11983	0.095000	0.17434	0.220000	0.17776	ACC	NXF5	-	NULL	ENSG00000126952		0.577	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		209	0.00	0	T			101095499	101095499	-1	no_errors	ENST00000263032	ensembl	human	known	69_37n	missense	199	12.72	29	SNP	0.095	G
NXF2	56001	genome.wustl.edu	37	X	101571969	101571969	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:101571969T>G	ENST00000372758.1	+	8	943	c.93T>G	c.(91-93)ggT>ggG	p.G31G	NXF2_ENST00000372763.1_5'UTR|NXF2_ENST00000395088.2_Silent_p.G31G|NXF2_ENST00000330252.5_Silent_p.G31G|NXF2_ENST00000372757.1_Silent_p.G31G			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	31					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						GAAAGAAAGGTGGGAGTTCTT	0.463																																						dbGAP											0													2.0	2.0	2.0					X																	101571969		437	1072	1509	-	-	-	SO:0001819	synonymous_variant	0			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"""cancer/testis antigen 39"", ""TAP like protein 2"""	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.93T>G	X.37:g.101571969T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.G31	ENST00000372758.1	37	c.93	CCDS14497.1	X																																																																																			NXF2	-	NULL	ENSG00000185554		0.463	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2	HGNC	protein_coding	OTTHUMT00000057618.1	62	0.00	0	T	NM_017809		101571969	101571969	+1	no_errors	ENST00000330252	ensembl	human	known	69_37n	silent	50	25.00	17	SNP	0.000	G
NXPE1	120400	genome.wustl.edu	37	11	114393025	114393025	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:114393025T>G	ENST00000424269.1	-	5	1308	c.1309A>C	c.(1309-1311)Acc>Ccc	p.T437P	NXPE1_ENST00000536271.1_Missense_Mutation_p.T153P|NXPE1_ENST00000251921.2_Missense_Mutation_p.T295P			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	437						extracellular region (GO:0005576)											TGGCCAAAGGTGATGACGATG	0.458																																						dbGAP											0													146.0	134.0	138.0					11																	114393025		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1309A>C	11.37:g.114393025T>G	ENSP00000411690:p.Thr437Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ13	Missense_Mutation	SNP	superfamily_Ig_E-set	p.T437P	ENST00000424269.1	37	c.1309		11	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656800	0.67586	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.17370	2.28;2.28;2.28	4.44	1.99	0.26369	.	0.165248	0.41605	D	0.000851	T	0.39545	0.1082	M	0.88031	2.925	0.09310	N	1	D	0.61697	0.99	D	0.69142	0.962	T	0.21109	-1.0255	10	0.72032	D	0.01	.	4.7927	0.13257	0.3097:0.0853:0.0:0.605	.	437	Q8N323	FA55A_HUMAN	P	153;295;437	ENSP00000445200:T153P;ENSP00000251921:T295P;ENSP00000411690:T437P	ENSP00000251921:T295P	T	-	1	0	FAM55A	113898235	0.010000	0.17322	0.020000	0.16555	0.833000	0.47200	0.506000	0.22658	0.259000	0.21709	-0.336000	0.08194	ACC	NXPE1	-	NULL	ENSG00000095110		0.458	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		285	0.35	1	T	NM_152315		114393025	114393025	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	missense	191	10.70	23	SNP	0.014	G
NXPE1	120400	genome.wustl.edu	37	11	114400952	114400952	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:114400952T>G	ENST00000424269.1	-	2	777	c.778A>C	c.(778-780)Acc>Ccc	p.T260P	snoU13_ENST00000459372.1_RNA|NXPE1_ENST00000536312.1_Missense_Mutation_p.T260P|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Missense_Mutation_p.T118P			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	260						extracellular region (GO:0005576)											CTATTCCGGGTGGTCATGTAG	0.438																																						dbGAP											0													91.0	91.0	91.0					11																	114400952		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.778A>C	11.37:g.114400952T>G	ENSP00000411690:p.Thr260Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ13	Missense_Mutation	SNP	superfamily_Ig_E-set	p.T260P	ENST00000424269.1	37	c.778		11	.	.	.	.	.	.	.	.	.	.	T	9.995	1.231918	0.22626	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.47528	2.46;2.66;0.84	4.29	0.0763	0.14402	.	0.346074	0.23528	N	0.047207	T	0.48572	0.1507	L	0.50919	1.6	0.09310	N	1	D	0.55800	0.973	P	0.55871	0.786	T	0.39078	-0.9631	10	0.30078	T	0.28	.	8.1626	0.31207	0.4577:0.0:0.0:0.5423	.	260	F5H6W7	.	P	118;260;260	ENSP00000251921:T118P;ENSP00000411690:T260P;ENSP00000442984:T260P	ENSP00000251921:T118P	T	-	1	0	FAM55A	113906162	0.002000	0.14202	0.001000	0.08648	0.096000	0.18686	0.461000	0.21940	0.213000	0.20722	0.533000	0.62120	ACC	NXPE1	-	NULL	ENSG00000095110		0.438	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		202	0.49	1	T	NM_152315		114400952	114400952	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	missense	157	10.80	19	SNP	0.000	G
NXPE4	54827	genome.wustl.edu	37	11	114442046	114442046	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:114442046T>G	ENST00000375478.3	-	6	1429	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	NXPE4_ENST00000424261.2_Missense_Mutation_p.T133P	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	417						extracellular vesicular exosome (GO:0070062)											ATGGCCCGGGTGAGGTACTCC	0.423																																						dbGAP											0													190.0	174.0	179.0					11																	114442046		1868	4096	5964	-	-	-	SO:0001583	missense	0			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1249A>C	11.37:g.114442046T>G	ENSP00000364627:p.Thr417Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	superfamily_Ig_E-set	p.T417P	ENST00000375478.3	37	c.1249	CCDS41718.1	11	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.474416	0.01044	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.17528	2.27;2.4	5.44	-2.38	0.06622	.	0.415259	0.22428	N	0.060190	T	0.03095	0.0091	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36114	-0.9761	10	0.16896	T	0.51	.	2.0695	0.03610	0.1103:0.2141:0.3244:0.3512	.	417	Q6UWF7	FA55D_HUMAN	P	133;417	ENSP00000401503:T133P;ENSP00000364627:T417P	ENSP00000364627:T417P	T	-	1	0	FAM55D	113947256	0.000000	0.05858	0.000000	0.03702	0.649000	0.38597	-0.429000	0.06982	-0.378000	0.07918	-0.231000	0.12243	ACC	NXPE4	-	NULL	ENSG00000137634		0.423	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NXPE4	HGNC	protein_coding	OTTHUMT00000399179.1	390	0.26	1	T	NM_017678		114442046	114442046	-1	no_errors	ENST00000375478	ensembl	human	known	69_37n	missense	278	18.55	64	SNP	0.001	G
NXPE4	54827	genome.wustl.edu	37	11	114453533	114453533	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:114453533T>G	ENST00000375478.3	-	3	487	c.307A>C	c.(307-309)Acc>Ccc	p.T103P	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	103						extracellular vesicular exosome (GO:0070062)											TTGAGGATGGTGGCTGTGCTA	0.547																																						dbGAP											0													216.0	217.0	216.0					11																	114453533		2180	4281	6461	-	-	-	SO:0001583	missense	0			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.307A>C	11.37:g.114453533T>G	ENSP00000364627:p.Thr103Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	superfamily_Ig_E-set	p.T103P	ENST00000375478.3	37	c.307	CCDS41718.1	11	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808461	0.31961	.	.	ENSG00000137634	ENST00000375478	T	0.12879	2.64	4.86	-2.41	0.06562	Immunoglobulin E-set (1);	0.386823	0.24798	N	0.035513	T	0.34019	0.0883	M	0.90759	3.145	0.26370	N	0.976901	D	0.63880	0.993	D	0.72075	0.976	T	0.09707	-1.0662	10	0.59425	D	0.04	.	5.7547	0.18166	0.5005:0.0756:0.0:0.4239	.	103	Q6UWF7	FA55D_HUMAN	P	103	ENSP00000364627:T103P	ENSP00000364627:T103P	T	-	1	0	FAM55D	113958743	0.456000	0.25744	0.050000	0.19076	0.203000	0.24098	0.410000	0.21098	-0.690000	0.05142	-1.736000	0.00690	ACC	NXPE4	-	superfamily_Ig_E-set	ENSG00000137634		0.547	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NXPE4	HGNC	protein_coding	OTTHUMT00000399179.1	300	0.66	2	T	NM_017678		114453533	114453533	-1	no_errors	ENST00000375478	ensembl	human	known	69_37n	missense	209	13.64	33	SNP	0.752	G
NYAP2	57624	genome.wustl.edu	37	2	226516194	226516194	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:226516194T>G	ENST00000272907.6	+	6	2288	c.1875T>G	c.(1873-1875)ggT>ggG	p.G625G		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	625					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGACGTCAGGTGTGCCTCCTC	0.493																																						dbGAP											0													204.0	207.0	206.0					2																	226516194		2142	4250	6392	-	-	-	SO:0001819	synonymous_variant	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1875T>G	2.37:g.226516194T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN4|Q96NL2	Silent	SNP	NULL	p.G625	ENST00000272907.6	37	c.1875	CCDS46529.1	2																																																																																			NYAP2	-	NULL	ENSG00000144460		0.493	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	577	0.52	3	T	NM_020864		226516194	226516194	+1	no_errors	ENST00000272907	ensembl	human	known	69_37n	silent	481	13.08	73	SNP	0.966	G
NYNRIN	57523	genome.wustl.edu	37	14	24877202	24877202	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24877202A>C	ENST00000382554.3	+	3	644	c.326A>C	c.(325-327)tAc>tCc	p.Y109S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	109					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACCCTTGCCTACCTGGTGCCT	0.637																																						dbGAP											0													68.0	74.0	72.0					14																	24877202		2101	4223	6324	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.326A>C	14.37:g.24877202A>C	ENSP00000371994:p.Tyr109Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.Y109S	ENST00000382554.3	37	c.326	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003161	0.54254	.	.	ENSG00000205978	ENST00000382554	T	0.10099	2.91	4.82	3.65	0.41850	.	1.356770	0.05517	N	0.561444	T	0.08358	0.0208	N	0.19112	0.55	0.25940	N	0.982882	B	0.33694	0.421	B	0.25140	0.058	T	0.34329	-0.9833	10	0.87932	D	0	.	8.9786	0.35950	0.8341:0.0:0.0:0.1659	.	109	Q9P2P1	NYNRI_HUMAN	S	109	ENSP00000371994:Y109S	ENSP00000371994:Y109S	Y	+	2	0	NYNRIN	23947042	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	5.523000	0.67099	0.837000	0.34925	0.533000	0.62120	TAC	NYNRIN	-	NULL	ENSG00000205978		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	55	0.00	0	A			24877202	24877202	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	55	16.67	11	SNP	0.951	C
NYNRIN	57523	genome.wustl.edu	37	14	24886336	24886336	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24886336T>G	ENST00000382554.3	+	9	5699	c.5381T>G	c.(5380-5382)gTg>gGg	p.V1794G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1794					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTACAGCTGGTGGGGGAGCTG	0.602																																						dbGAP											0													61.0	68.0	66.0					14																	24886336		2045	4204	6249	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5381T>G	14.37:g.24886336T>G	ENSP00000371994:p.Val1794Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.V1794G	ENST00000382554.3	37	c.5381	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	T	5.955	0.360161	0.11296	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.78	-2.37	0.06643	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.14023	0.01	T	0.39482	-0.9612	9	0.49607	T	0.09	.	1.5095	0.02493	0.1331:0.2532:0.1364:0.4773	.	1794	Q9P2P1	NYNRI_HUMAN	G	1794	ENSP00000371994:V1794G	ENSP00000371994:V1794G	V	+	2	0	NYNRIN	23956176	0.965000	0.33210	0.000000	0.03702	0.093000	0.18481	0.000000	0.12993	-0.154000	0.11118	0.533000	0.62120	GTG	NYNRIN	-	NULL	ENSG00000205978		0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	41	0.00	0	T			24886336	24886336	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.000	G
OAS3	4940	genome.wustl.edu	37	12	113400596	113400596	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:113400596T>G	ENST00000228928.7	+	9	2152	c.1973T>G	c.(1972-1974)gTg>gGg	p.V658G	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	658	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTCCGGACGGTGCTGGGGCTC	0.587																																						dbGAP											0													119.0	128.0	125.0					12																	113400596		2051	4210	6261	-	-	-	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1973T>G	12.37:g.113400596T>G	ENSP00000228928:p.Val658Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.V658G	ENST00000228928.7	37	c.1973	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489555	0.44249	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.59364	0.27	4.1	2.95	0.34219	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.77384	0.4122	M	0.92268	3.29	0.09310	N	0.999999	D	0.67145	0.996	D	0.70935	0.971	T	0.65475	-0.6159	9	0.87932	D	0	.	6.115	0.20122	0.0:0.1186:0.0:0.8814	.	658	Q9Y6K5	OAS3_HUMAN	G	658;657	ENSP00000228928:V658G	ENSP00000228928:V658G	V	+	2	0	OAS3	111884979	0.519000	0.26242	0.001000	0.08648	0.024000	0.10985	2.519000	0.45546	0.627000	0.30340	0.533000	0.62120	GTG	OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111331		0.587	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	229	0.85	2	T			113400596	113400596	+1	no_errors	ENST00000228928	ensembl	human	known	69_37n	missense	190	12.39	27	SNP	0.001	G
OAS2	4939	genome.wustl.edu	37	12	113446925	113446925	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:113446925T>G	ENST00000342315.4	+	10	2143	c.1929T>G	c.(1927-1929)ggT>ggG	p.G643G	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.G643G	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	643	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AACCCACAGGTGACGTGGGTG	0.517																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											0													192.0	184.0	187.0					12																	113446925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1929T>G	12.37:g.113446925T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.G643	ENST00000342315.4	37	c.1929	CCDS31906.1	12																																																																																			OAS2	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111335		0.517	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	266	0.37	1	T			113446925	113446925	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	silent	291	17.28	61	SNP	0.010	G
OBSCN	84033	genome.wustl.edu	37	1	228412169	228412169	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:228412169T>G	ENST00000422127.1	+	9	2707	c.2663T>G	c.(2662-2664)gTg>gGg	p.V888G	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.V980G|OBSCN_ENST00000284548.11_Missense_Mutation_p.V888G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	888	Ig-like 9.			V -> A (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCAAGGTGGTGTTTGCT	0.607																																						dbGAP											0													37.0	37.0	37.0					1																	228412169		2095	4218	6313	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2663T>G	1.37:g.228412169T>G	ENSP00000409493:p.Val888Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V888G	ENST00000422127.1	37	c.2663	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	0.346	-0.947533	0.02304	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.05855	3.38;3.38	4.42	-7.78	0.01223	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.893130	0.01059	N	0.004606	T	0.12390	0.0301	M	0.86420	2.815	0.09310	N	0.999999	B;B	0.27450	0.179;0.169	B;B	0.24006	0.036;0.05	T	0.23368	-1.0190	10	0.20046	T	0.44	.	15.1284	0.72500	0.1286:0.7167:0.0:0.1547	.	888;888	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	888	ENSP00000284548:V888G;ENSP00000409493:V888G	ENSP00000284548:V888G	V	+	2	0	OBSCN	226478792	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.846000	0.01676	-1.720000	0.01380	-0.274000	0.10170	GTG	OBSCN	-	pfscan_Ig-like	ENSG00000154358		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		72	0.00	0	T	NM_052843		228412169	228412169	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	68	30.00	30	SNP	0.000	G
OBSCN	84033	genome.wustl.edu	37	1	228452078	228452078	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:228452078A>C	ENST00000422127.1	+	16	4891	c.4847A>C	c.(4846-4848)cAc>cCc	p.H1616P	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.H272P|OBSCN_ENST00000570156.2_Missense_Mutation_p.H1800P|OBSCN_ENST00000284548.11_Missense_Mutation_p.H1616P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1616	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTCCTTCCACCTGCACGTG	0.647																																						dbGAP											0													27.0	35.0	32.0					1																	228452078		2134	4231	6365	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4847A>C	1.37:g.228452078A>C	ENSP00000409493:p.His1616Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.H1616P	ENST00000422127.1	37	c.4847	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	3.113	-0.182152	0.06340	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.04758	3.56;3.56;3.56	4.69	-9.37	0.00626	.	1.113020	0.06841	N	0.795682	T	0.04998	0.0134	L	0.29908	0.895	0.20638	N	0.999875	B;P	0.50443	0.332;0.935	B;B	0.43508	0.158;0.422	T	0.13656	-1.0501	10	0.34782	T	0.22	.	18.7216	0.91697	0.7526:0.0:0.2474:0.0	.	1616;1616	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	P	1616;1616;272	ENSP00000284548:H1616P;ENSP00000409493:H1616P;ENSP00000352613:H272P	ENSP00000284548:H1616P	H	+	2	0	OBSCN	226518701	0.000000	0.05858	0.059000	0.19551	0.003000	0.03518	-4.202000	0.00275	-2.107000	0.00840	-1.585000	0.00851	CAC	OBSCN	-	smart_Ig_sub	ENSG00000154358		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		24	0.00	0	A	NM_052843		228452078	228452078	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	29	29.55	13	SNP	0.007	C
ODAM	54959	genome.wustl.edu	37	4	71063772	71063772	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71063772A>C	ENST00000396094.2	+	4	321	c.273A>C	c.(271-273)atA>atC	p.I91I		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	91	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAAATCAGATACCCTTAACAG	0.522																																						dbGAP											0													183.0	183.0	183.0					4																	71063772		1903	4122	6025	-	-	-	SO:0001819	synonymous_variant	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.273A>C	4.37:g.71063772A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWE5|Q9NWZ9	Silent	SNP	NULL	p.I91	ENST00000396094.2	37	c.273	CCDS3536.2	4																																																																																			ODAM	-	NULL	ENSG00000109205		0.522	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	385	0.77	3	A	NM_017855		71063772	71063772	+1	no_errors	ENST00000396094	ensembl	human	known	69_37n	silent	297	12.61	43	SNP	0.042	C
ODF3L1	161753	genome.wustl.edu	37	15	76019411	76019411	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:76019411A>C	ENST00000332145.2	+	4	578	c.355A>C	c.(355-357)Acc>Ccc	p.T119P	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	119										kidney(1)|lung(1)	2						CCTGAACCCCACCCTCGCATC	0.587																																						dbGAP											0													104.0	118.0	113.0					15																	76019411		2197	4293	6490	-	-	-	SO:0001583	missense	0			BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.355A>C	15.37:g.76019411A>C	ENSP00000329584:p.Thr119Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.T119P	ENST00000332145.2	37	c.355	CCDS10285.1	15	.	.	.	.	.	.	.	.	.	.	.	25.1	4.607349	0.87157	.	.	ENSG00000182950	ENST00000332145	T	0.37235	1.21	4.57	4.57	0.56435	.	0.568289	0.15580	N	0.254983	T	0.49592	0.1566	L	0.56124	1.755	0.09310	N	1	D	0.63046	0.992	P	0.62298	0.9	T	0.33189	-0.9878	10	0.39692	T	0.17	-7.4174	10.629	0.45525	1.0:0.0:0.0:0.0	.	119	Q8IXM7	OD3L1_HUMAN	P	119	ENSP00000329584:T119P	ENSP00000329584:T119P	T	+	1	0	ODF3L1	73806466	0.032000	0.19561	0.194000	0.23346	0.826000	0.46750	3.277000	0.51654	1.837000	0.53436	0.459000	0.35465	ACC	ODF3L1	-	NULL	ENSG00000182950		0.587	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3L1	HGNC	protein_coding	OTTHUMT00000286473.1	116	0.85	1	A	NM_175881		76019411	76019411	+1	no_errors	ENST00000332145	ensembl	human	known	69_37n	missense	76	23.76	24	SNP	0.067	C
ODF4	146852	genome.wustl.edu	37	17	8248663	8248663	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:8248663A>C	ENST00000328248.2	+	2	645	c.457A>C	c.(457-459)Acc>Ccc	p.T153P	ODF4_ENST00000584943.1_Missense_Mutation_p.T38P	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	153					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						TCTCCTAGTCACCTTCATCTT	0.488																																						dbGAP											0													309.0	266.0	280.0					17																	8248663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.457A>C	17.37:g.8248663A>C	ENSP00000331086:p.Thr153Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8J021	Missense_Mutation	SNP	NULL	p.T153P	ENST00000328248.2	37	c.457	CCDS11140.1	17	.	.	.	.	.	.	.	.	.	.	A	2.035	-0.421529	0.04734	.	.	ENSG00000184650	ENST00000328248	T	0.25250	1.81	4.89	-1.69	0.08186	.	1.163000	0.06458	N	0.728964	T	0.17109	0.0411	N	0.22421	0.69	0.09310	N	1	D	0.53745	0.962	P	0.44990	0.466	T	0.16100	-1.0414	10	0.59425	D	0.04	-8.4132	2.8974	0.05694	0.4144:0.0:0.2754:0.3102	.	153	Q2M2E3	ODFP4_HUMAN	P	153	ENSP00000331086:T153P	ENSP00000331086:T153P	T	+	1	0	ODF4	8189388	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	-0.515000	0.06290	-0.171000	0.10797	0.460000	0.39030	ACC	ODF4	-	NULL	ENSG00000184650		0.488	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF4	HGNC	protein_coding	OTTHUMT00000226996.1	168	0.59	1	A			8248663	8248663	+1	no_errors	ENST00000328248	ensembl	human	known	69_37n	missense	106	15.87	20	SNP	0.000	C
TENM1	10178	genome.wustl.edu	37	X	123695592	123695592	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:123695592A>C	ENST00000371130.3	-	14	2426	c.2363T>G	c.(2362-2364)gTg>gGg	p.V788G	TENM1_ENST00000422452.2_Missense_Mutation_p.V788G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	788	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTCCAACCCACCTGACACAC	0.463																																						dbGAP											0													208.0	164.0	179.0					X																	123695592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2363T>G	X.37:g.123695592A>C	ENSP00000360171:p.Val788Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.V788G	ENST00000371130.3	37	c.2363	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637740	0.47049	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03181	4.02;4.02	5.39	5.39	0.77823	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.317652	0.31092	N	0.008261	T	0.03220	0.0094	N	0.22421	0.69	0.58432	D	0.999999	B;B;B	0.31581	0.329;0.329;0.006	B;B;B	0.24974	0.057;0.041;0.013	T	0.58352	-0.7651	10	0.24483	T	0.36	.	14.6091	0.68504	1.0:0.0:0.0:0.0	.	787;788;788	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	788	ENSP00000360171:V788G;ENSP00000403954:V788G	ENSP00000360171:V788G	V	-	2	0	ODZ1	123523273	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.004000	0.57068	1.899000	0.54978	0.481000	0.45027	GTG	ODZ1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000009694		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	294	0.68	2	A	NM_014253		123695592	123695592	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	286	19.50	70	SNP	1.000	C
TENM1	10178	genome.wustl.edu	37	X	123779165	123779165	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:123779165A>C	ENST00000371130.3	-	10	1767	c.1704T>G	c.(1702-1704)ggT>ggG	p.G568G	TENM1_ENST00000422452.2_Silent_p.G568G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	568	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCCATTCCCACCACACAGCA	0.463																																						dbGAP											0													198.0	175.0	182.0					X																	123779165		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1704T>G	X.37:g.123779165A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.G568	ENST00000371130.3	37	c.1704	CCDS14609.1	X																																																																																			ODZ1	-	smart_EGF-like	ENSG00000009694		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	394	0.00	0	A	NM_014253		123779165	123779165	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	silent	377	10.43	44	SNP	1.000	C
TENM1	10178	genome.wustl.edu	37	X	123787528	123787528	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:123787528T>G	ENST00000371130.3	-	7	1337	c.1274A>C	c.(1273-1275)cAc>cCc	p.H425P	TENM1_ENST00000422452.2_Missense_Mutation_p.H425P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	425					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATTGGATGGTGGATAGTAAT	0.438																																						dbGAP											0													149.0	136.0	141.0					X																	123787528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1274A>C	X.37:g.123787528T>G	ENSP00000360171:p.His425Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.H425P	ENST00000371130.3	37	c.1274	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055100	0.55325	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.26373	1.74;1.74	5.59	4.41	0.53225	.	0.052884	0.85682	D	0.000000	T	0.42108	0.1188	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.996;0.988	D;P;P	0.78314	0.991;0.802;0.627	T	0.09207	-1.0685	10	0.38643	T	0.18	.	11.2622	0.49089	0.1389:0.0:0.0:0.8611	.	424;425;425	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	425	ENSP00000360171:H425P;ENSP00000403954:H425P	ENSP00000360171:H425P	H	-	2	0	ODZ1	123615209	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	0.736000	0.32559	-0.605000	0.04089	CAC	ODZ1	-	NULL	ENSG00000009694		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	285	0.00	0	T	NM_014253		123787528	123787528	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	263	19.08	62	SNP	1.000	G
TENM4	26011	genome.wustl.edu	37	11	78399221	78399221	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:78399221A>C	ENST00000278550.7	-	29	5600	c.5138T>G	c.(5137-5139)gTg>gGg	p.V1713G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1713					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GAAACTGCTCACCTGGCCAGT	0.517																																						dbGAP											0													203.0	205.0	204.0					11																	78399221		2072	4204	6276	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5138T>G	11.37:g.78399221A>C	ENSP00000278550:p.Val1713Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1713G	ENST00000278550.7	37	c.5138	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714243	0.89112	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90900	-2.75;0.75	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.94604	0.8261	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94519	0.7725	9	.	.	.	.	14.8236	0.70091	1.0:0.0:0.0:0.0	.	1713	Q6N022	TEN4_HUMAN	G	1713;177	ENSP00000278550:V1713G;ENSP00000431711:V177G	.	V	-	2	0	ODZ4	78076869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.067000	0.93955	2.081000	0.62600	0.533000	0.62120	GTG	ODZ4	-	tigrfam_YD	ENSG00000149256		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	254	0.78	2	A			78399221	78399221	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	138	18.82	32	SNP	1.000	C
TENM4	26011	genome.wustl.edu	37	11	78443546	78443546	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:78443546T>G	ENST00000278550.7	-	21	3415	c.2953A>C	c.(2953-2955)Acc>Ccc	p.T985P		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	985					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGCCACAGGGTGTGCTCCTGT	0.527																																						dbGAP											0													61.0	67.0	65.0					11																	78443546		2035	4197	6232	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2953A>C	11.37:g.78443546T>G	ENSP00000278550:p.Thr985Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T985P	ENST00000278550.7	37	c.2953	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723389	0.89298	.	.	ENSG00000149256	ENST00000278550	T	0.14391	2.51	4.96	4.96	0.65561	Carboxypeptidase-like, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55023	-0.8205	9	.	.	.	.	14.788	0.69819	0.0:0.0:0.0:1.0	.	985	Q6N022	TEN4_HUMAN	P	985	ENSP00000278550:T985P	.	T	-	1	0	ODZ4	78121194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.775000	0.85489	2.087000	0.62958	0.459000	0.35465	ACC	ODZ4	-	superfamily_CarboxyPept-like_regulatory	ENSG00000149256		0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	66	0.00	0	T			78443546	78443546	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	1.000	G
OIT3	170392	genome.wustl.edu	37	10	74666391	74666391	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:74666391T>G	ENST00000334011.5	+	4	800	c.582T>G	c.(580-582)agT>agG	p.S194R		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	194	EGF-like; calcium-binding. {ECO:0000255}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GTGGCTGCAGTGAGATCTGTG	0.483																																					Colon(7;19 345 13446 17537)	dbGAP											0													237.0	216.0	223.0					10																	74666391		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.582T>G	10.37:g.74666391T>G	ENSP00000333900:p.Ser194Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr,pfscan_Zona_pellucida_Endoglin/CD105	p.S194R	ENST00000334011.5	37	c.582	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445592	0.63178	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.97480	-4.4	5.48	4.31	0.51392	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000001	D	0.96278	0.8786	L	0.58925	1.835	0.49051	D	0.999746	D	0.60575	0.988	P	0.51657	0.676	D	0.94209	0.7457	10	0.35671	T	0.21	-11.0929	10.2958	0.43623	0.0:0.1388:0.0:0.8612	.	194	Q8WWZ8	OIT3_HUMAN	R	194	ENSP00000333900:S194R	ENSP00000333900:S194R	S	+	3	2	OIT3	74336397	0.584000	0.26766	1.000000	0.80357	0.997000	0.91878	-0.341000	0.07811	0.871000	0.35750	0.533000	0.62120	AGT	OIT3	-	smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000138315		0.483	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	232	0.00	0	T	NM_152635		74666391	74666391	+1	no_errors	ENST00000334011	ensembl	human	known	69_37n	missense	200	14.41	34	SNP	1.000	G
OLFM2	93145	genome.wustl.edu	37	19	9968061	9968061	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9968061A>C	ENST00000264833.4	-	4	643	c.458T>G	c.(457-459)gTg>gGg	p.V153G	OLFM2_ENST00000590841.1_Missense_Mutation_p.V75G	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	153					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GAGATTCCTCACCTCCTCCCG	0.627																																						dbGAP											0													104.0	83.0	90.0					19																	9968061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.458T>G	19.37:g.9968061A>C	ENSP00000264833:p.Val153Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IMJ3|Q96FC2	Splice_Site	SNP	-	e2+2	ENST00000264833.4	37	c.222+2	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593872	0.46214	.	.	ENSG00000105088	ENST00000264833	D	0.91237	-2.81	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000001	D	0.86715	0.5999	L	0.46157	1.445	0.80722	D	1	P	0.41420	0.749	B	0.41412	0.356	D	0.84616	0.0681	9	.	.	.	.	10.6376	0.45573	1.0:0.0:0.0:0.0	.	153	O95897	NOE2_HUMAN	G	153	ENSP00000264833:V153G	.	V	-	2	0	OLFM2	9829061	1.000000	0.71417	0.995000	0.50966	0.111000	0.19643	9.028000	0.93712	1.619000	0.50296	0.379000	0.24179	GTG	OLFM2	-	-	ENSG00000105088		0.627	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	110	0.00	0	A			9968061	9968061	-1	no_errors	ENST00000592448	ensembl	human	known	69_37n	splice_site	99	16.10	19	SNP	1.000	C
OLFM3	118427	genome.wustl.edu	37	1	102270205	102270205	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:102270205A>C	ENST00000338858.5	-	6	1025	c.1026T>G	c.(1024-1026)ggT>ggG	p.G342G	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Silent_p.G322G			Q96PB7	NOE3_HUMAN	olfactomedin 3	342	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGAGAATCCACCCCATGTGT	0.453																																						dbGAP											0													91.0	79.0	83.0					1																	102270205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1026T>G	1.37:g.102270205A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.G342	ENST00000338858.5	37	c.1026		1	.	.	.	.	.	.	.	.	.	.	A	6.608	0.480484	0.12581	.	.	ENSG00000118733	ENST00000424771	.	.	.	5.77	2.1	0.27182	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19451	-1.0305	4	.	.	.	.	5.5312	0.16985	0.6866:0.0:0.1958:0.1176	.	.	.	.	G	193	.	.	V	-	2	0	OLFM3	102042793	0.306000	0.24490	1.000000	0.80357	0.985000	0.73830	-0.168000	0.09925	0.435000	0.26365	0.528000	0.53228	GTG	OLFM3	-	pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	ENSG00000118733		0.453	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	166	0.00	0	A			102270205	102270205	-1	no_errors	ENST00000338858	ensembl	human	known	69_37n	silent	115	17.27	24	SNP	0.996	C
OPHN1	4983	genome.wustl.edu	37	X	67412614	67412614	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:67412614T>G	ENST00000355520.5	-	15	1918				OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTGCCCAGGGTGGGCAAGTAT	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1276+146A>C	X.37:g.67412614T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	RNA	SNP	-	NULL	ENST00000355520.5	37	NULL	CCDS14388.1	X																																																																																			OPHN1	-	-	ENSG00000079482		0.398	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	35	0.00	0	T	NM_002547		67412614	67412614	-1	no_errors	ENST00000467444	ensembl	human	known	69_37n	rna	28	30.00	12	SNP	0.000	G
OPN1LW	5956	genome.wustl.edu	37	X	153421833	153421833	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:153421833T>G	ENST00000369951.4	+	5	869	c.809T>G	c.(808-810)gTg>gGg	p.V270G	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	270					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGCATGGTGGTGGTGATG	0.557																																						dbGAP											0													409.0	324.0	353.0					X																	153421833		2194	4271	6465	-	-	-	SO:0001583	missense	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.809T>G	X.37:g.153421833T>G	ENSP00000358967:p.Val270Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.V270G	ENST00000369951.4	37	c.809	CCDS14742.1	X	.	.	.	.	.	.	.	.	.	.	T	17.58	3.426025	0.62733	.	.	ENSG00000102076	ENST00000369951	T	0.41758	0.99	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82384	-0.0484	10	0.87932	D	0	.	11.9651	0.53029	0.0:0.0:0.0:1.0	.	270	P04000	OPSR_HUMAN	G	270	ENSP00000358967:V270G	ENSP00000358967:V270G	V	+	2	0	OPN1LW	153075027	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	7.846000	0.86887	1.525000	0.49052	0.356000	0.21956	GTG	OPN1LW	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000102076		0.557	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	612	0.16	1	T	NM_020061		153421833	153421833	+1	no_errors	ENST00000369951	ensembl	human	known	69_37n	missense	507	15.31	92	SNP	1.000	G
OR10C1	442194	genome.wustl.edu	37	6	29408253	29408253	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29408253T>G	ENST00000444197.2	+	1	1171	c.461T>G	c.(460-462)gTg>gGg	p.V154G	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGGTGCTGGTGGGGCTGGGC	0.622																																						dbGAP											0													95.0	108.0	103.0					6																	29408253		1510	2709	4219	-	-	-	SO:0001583	missense	0				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.461T>G	6.37:g.29408253T>G	ENSP00000419119:p.Val154Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN7|Q96R18	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V154G	ENST00000444197.2	37	c.461	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553943	0.27739	.	.	ENSG00000206474	ENST00000444197	T	0.38240	1.15	3.53	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35407	N	0.003230	T	0.32734	0.0839	L	0.52905	1.665	0.41621	D	0.988965	D	0.76494	0.999	D	0.70227	0.968	T	0.27905	-1.0060	10	0.66056	D	0.02	.	2.7412	0.05254	0.199:0.3202:0.0:0.4807	.	154	Q96KK4	O10C1_HUMAN	G	154	ENSP00000419119:V154G	ENSP00000419119:V154G	V	+	2	0	OR10C1	29516232	0.000000	0.05858	0.969000	0.41365	0.180000	0.23129	-1.537000	0.02206	0.444000	0.26612	0.416000	0.27883	GTG	OR10C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000206474		0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	HGNC	protein_coding	OTTHUMT00000076415.2	274	0.72	2	T			29408253	29408253	+1	no_errors	ENST00000444197	ensembl	human	known	69_37n	missense	285	11.21	36	SNP	0.699	G
OR10G4	390264	genome.wustl.edu	37	11	123886699	123886699	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123886699T>G	ENST00000320891.4	+	1	418	c.418T>G	c.(418-420)Tgt>Ggt	p.C140G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGGAGCAGGTGTGCCCTCCT	0.557																																						dbGAP											0													232.0	217.0	222.0					11																	123886699		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.418T>G	11.37:g.123886699T>G	ENSP00000325076:p.Cys140Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEW0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C140G	ENST00000320891.4	37	c.418	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	t	5.510	0.278989	0.10458	.	.	ENSG00000254737	ENST00000320891	T	0.00224	8.51	3.01	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000104	T	0.00637	0.0021	H	0.96889	3.9	0.09310	N	1	D	0.53619	0.961	D	0.64410	0.925	T	0.42310	-0.9459	10	0.87932	D	0	.	3.9255	0.09262	0.1831:0.1066:0.0:0.7103	.	140	Q8NGN3	O10G4_HUMAN	G	140	ENSP00000325076:C140G	ENSP00000325076:C140G	C	+	1	0	OR10G4	123391909	0.024000	0.19004	0.005000	0.12908	0.014000	0.08584	0.351000	0.20096	0.369000	0.24510	0.473000	0.43528	TGT	OR10G4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000254737		0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	370	0.00	0	T	NM_001004462		123886699	123886699	+1	no_errors	ENST00000320891	ensembl	human	known	69_37n	missense	253	12.11	35	SNP	0.001	G
OR10G9	219870	genome.wustl.edu	37	11	123894290	123894290	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123894290A>C	ENST00000375024.1	+	1	571	c.571A>C	c.(571-573)Acc>Ccc	p.T191P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTGCAGACACCTCAGCCAA	0.517																																						dbGAP											0													265.0	231.0	243.0					11																	123894290		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.571A>C	11.37:g.123894290A>C	ENSP00000364164:p.Thr191Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T191P	ENST00000375024.1	37	c.571	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180973	0.38511	.	.	ENSG00000236981	ENST00000375024	T	0.00245	8.45	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000193	T	0.00524	0.0017	M	0.77820	2.39	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.38887	-0.9640	10	0.87932	D	0	.	11.3876	0.49796	1.0:0.0:0.0:0.0	.	191	Q8NGN4	O10G9_HUMAN	P	191	ENSP00000364164:T191P	ENSP00000364164:T191P	T	+	1	0	OR10G9	123399500	0.000000	0.05858	0.974000	0.42286	0.549000	0.35272	0.837000	0.27558	1.578000	0.49821	0.533000	0.62120	ACC	OR10G9	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000236981		0.517	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	296	0.34	1	A	NM_001001953		123894290	123894290	+1	no_errors	ENST00000375024	ensembl	human	known	69_37n	missense	210	14.46	36	SNP	0.195	C
OR10G7	390265	genome.wustl.edu	37	11	123909465	123909465	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123909465T>G	ENST00000330487.5	-	1	252	c.244A>C	c.(244-246)Acc>Ccc	p.T82P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	82						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)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GACACCAAGGTCATCAGCATT	0.537																																						dbGAP											0													158.0	170.0	166.0					11																	123909465		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.244A>C	11.37:g.123909465T>G	ENSP00000329689:p.Thr82Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T82P	ENST00000330487.5	37	c.244	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371548	0.24771	.	.	ENSG00000182634	ENST00000330487	T	0.00402	7.56	3.39	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.443529	0.18924	N	0.127416	T	0.00468	0.0015	M	0.77616	2.38	0.09310	N	0.999998	P	0.42248	0.774	B	0.43478	0.421	T	0.45234	-0.9275	10	0.62326	D	0.03	.	3.9403	0.09325	0.0:0.2861:0.1874:0.5265	.	82	Q8NGN6	O10G7_HUMAN	P	82	ENSP00000329689:T82P	ENSP00000329689:T82P	T	-	1	0	OR10G7	123414675	0.000000	0.05858	0.991000	0.47740	0.646000	0.38490	0.293000	0.19029	0.516000	0.28340	0.374000	0.22700	ACC	OR10G7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182634		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	339	0.59	2	T	NM_001004463		123909465	123909465	-1	no_errors	ENST00000330487	ensembl	human	known	69_37n	missense	229	11.41	30	SNP	0.123	G
OR10H3	26532	genome.wustl.edu	37	19	15852482	15852482	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:15852482A>C	ENST00000305892.1	+	1	280	c.280A>C	c.(280-282)Acc>Ccc	p.T94P		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCGTTCCATCACCTTTGTGGC	0.498																																						dbGAP											0													533.0	445.0	474.0					19																	15852482		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.280A>C	19.37:g.15852482A>C	ENSP00000307130:p.Thr94Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T94P	ENST00000305892.1	37	c.280	CCDS12334.1	19	.	.	.	.	.	.	.	.	.	.	.	3.422	-0.118028	0.06838	.	.	ENSG00000171936	ENST00000305892	T	0.81415	-1.49	2.35	-4.7	0.03288	GPCR, rhodopsin-like superfamily (1);	0.182954	0.25941	U	0.027305	T	0.57548	0.2061	N	0.20328	0.56	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.36578	-0.9742	10	0.49607	T	0.09	.	3.2492	0.06808	0.3356:0.0:0.2265:0.4379	.	94	O60404	O10H3_HUMAN	P	94	ENSP00000307130:T94P	ENSP00000307130:T94P	T	+	1	0	OR10H3	15713482	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-0.370000	0.07523	-1.353000	0.02191	0.155000	0.16302	ACC	OR10H3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000171936		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	685	0.00	0	A			15852482	15852482	+1	no_errors	ENST00000305892	ensembl	human	known	69_37n	missense	826	10.44	97	SNP	0.000	C
OR10H3	26532	genome.wustl.edu	37	19	15853052	15853052	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:15853052A>C	ENST00000305892.1	+	1	850	c.850A>C	c.(850-852)Acc>Ccc	p.T284P		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TACTGTCTTCACCCCCTTCCT	0.458																																						dbGAP											0													183.0	167.0	173.0					19																	15853052		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.850A>C	19.37:g.15853052A>C	ENSP00000307130:p.Thr284Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T284P	ENST00000305892.1	37	c.850	CCDS12334.1	19	.	.	.	.	.	.	.	.	.	.	.	8.154	0.788082	0.16258	.	.	ENSG00000171936	ENST00000305892	T	0.37235	1.21	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	U	0.000792	T	0.53562	0.1804	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35375	-0.9791	10	0.87932	D	0	.	8.2405	0.31658	1.0:0.0:0.0:0.0	.	284	O60404	O10H3_HUMAN	P	284	ENSP00000307130:T284P	ENSP00000307130:T284P	T	+	1	0	OR10H3	15714052	0.000000	0.05858	0.058000	0.19502	0.135000	0.20990	0.323000	0.19593	1.094000	0.41399	0.172000	0.16884	ACC	OR10H3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000171936		0.458	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	458	0.22	1	A			15853052	15853052	+1	no_errors	ENST00000305892	ensembl	human	known	69_37n	missense	500	13.00	75	SNP	0.092	C
OR10H4	126541	genome.wustl.edu	37	19	16060554	16060554	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:16060554A>C	ENST00000322107.1	+	1	737	c.737A>C	c.(736-738)cAc>cCc	p.H246P		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGTGTATCCCACCTCACTGTG	0.507																																						dbGAP											0													186.0	158.0	167.0					19																	16060554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.737A>C	19.37:g.16060554A>C	ENSP00000318834:p.His246Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ2|Q96R57	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H246P	ENST00000322107.1	37	c.737	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	a	13.97	2.395935	0.42512	.	.	ENSG00000176231	ENST00000322107	T	0.00318	8.12	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	U	0.000649	T	0.00875	0.0029	H	0.97516	4.02	0.42019	D	0.990976	P	0.52577	0.954	D	0.65987	0.94	T	0.49513	-0.8932	10	0.87932	D	0	.	6.7888	0.23687	1.0:0.0:0.0:0.0	.	246	Q8NGA5	O10H4_HUMAN	P	246	ENSP00000318834:H246P	ENSP00000318834:H246P	H	+	2	0	OR10H4	15921554	1.000000	0.71417	0.986000	0.45419	0.603000	0.37013	7.188000	0.77739	0.700000	0.31782	0.397000	0.26171	CAC	OR10H4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000176231		0.507	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	231	0.43	1	A			16060554	16060554	+1	no_errors	ENST00000322107	ensembl	human	known	69_37n	missense	277	14.20	46	SNP	1.000	C
OR10T2	128360	genome.wustl.edu	37	1	158368584	158368584	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:158368584T>G	ENST00000334438.1	-	1	672	c.673A>C	c.(673-675)Acc>Ccc	p.T225P		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	225						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(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TTCAGGATGGTGTTAACTATG	0.463																																						dbGAP											0													76.0	75.0	75.0					1																	158368584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.673A>C	1.37:g.158368584T>G	ENSP00000334115:p.Thr225Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF98	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T225P	ENST00000334438.1	37	c.673	CCDS30895.1	1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126869	0.56721	.	.	ENSG00000186306	ENST00000334438	T	0.00207	8.55	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000589	T	0.00328	0.0010	M	0.92784	3.345	0.25953	N	0.982725	D	0.76494	0.999	D	0.79784	0.993	T	0.21724	-1.0237	10	0.87932	D	0	.	7.8619	0.29514	0.0:0.0949:0.0:0.9051	.	225	Q8NGX3	O10T2_HUMAN	P	225	ENSP00000334115:T225P	ENSP00000334115:T225P	T	-	1	0	OR10T2	156635208	0.399000	0.25287	0.969000	0.41365	0.960000	0.62799	0.658000	0.24979	1.911000	0.55334	0.533000	0.62120	ACC	OR10T2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186306		0.463	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	HGNC	protein_coding	OTTHUMT00000046371.1	103	0.00	0	T	NM_001004475		158368584	158368584	-1	no_errors	ENST00000334438	ensembl	human	known	69_37n	missense	125	11.35	16	SNP	0.942	G
OR11L1	391189	genome.wustl.edu	37	1	248004405	248004405	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248004405T>G	ENST00000355784.2	-	1	849	c.794A>C	c.(793-795)cAc>cCc	p.H265P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	265						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGCAACAGGTGGGGACTGGG	0.488																																						dbGAP											0													114.0	108.0	110.0					1																	248004405		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.794A>C	1.37:g.248004405T>G	ENSP00000348033:p.His265Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H265P	ENST00000355784.2	37	c.794	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	T	0.180	-1.063230	0.01950	.	.	ENSG00000197591	ENST00000355784	T	0.00069	8.77	4.15	0.115	0.14643	GPCR, rhodopsin-like superfamily (1);	0.272836	0.18981	N	0.125893	T	0.00073	0.0002	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.16012	-1.0417	10	0.38643	T	0.18	.	3.3662	0.07204	0.2869:0.1707:0.0:0.5424	.	265	Q8NGX0	O11L1_HUMAN	P	265	ENSP00000348033:H265P	ENSP00000348033:H265P	H	-	2	0	OR11L1	246071028	0.000000	0.05858	0.011000	0.14972	0.073000	0.16967	-2.617000	0.00881	0.235000	0.21160	0.443000	0.29094	CAC	OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197591		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	120	0.82	1	T	NM_001001959		248004405	248004405	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	193	11.82	26	SNP	0.000	G
OR11L1	391189	genome.wustl.edu	37	1	248004508	248004508	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248004508T>G	ENST00000355784.2	-	1	746	c.691A>C	c.(691-693)Acc>Ccc	p.T231P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	231						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGGCCAGAGGTGGAAGGGATT	0.498																																						dbGAP											0													96.0	97.0	96.0					1																	248004508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.691A>C	1.37:g.248004508T>G	ENSP00000348033:p.Thr231Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T231P	ENST00000355784.2	37	c.691	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	T	6.846	0.525311	0.13066	.	.	ENSG00000197591	ENST00000355784	T	0.00152	8.66	4.27	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.485335	0.15042	U	0.283826	T	0.00178	0.0005	L	0.40543	1.245	0.09310	N	1	P	0.38788	0.647	B	0.43838	0.433	T	0.31641	-0.9936	10	0.66056	D	0.02	.	7.7367	0.28819	0.0:0.4965:0.0:0.5035	.	231	Q8NGX0	O11L1_HUMAN	P	231	ENSP00000348033:T231P	ENSP00000348033:T231P	T	-	1	0	OR11L1	246071131	0.000000	0.05858	0.008000	0.14137	0.023000	0.10783	-1.170000	0.03118	0.129000	0.18514	-0.427000	0.05922	ACC	OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197591		0.498	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	131	0.75	1	T	NM_001001959		248004508	248004508	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	212	16.14	41	SNP	0.000	G
OR13C8	138802	genome.wustl.edu	37	9	107331609	107331609	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:107331609A>C	ENST00000335040.1	+	1	161	c.161A>C	c.(160-162)cAc>cCc	p.H54P		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTGATTCTCACCTGCACACC	0.438																																						dbGAP											0													337.0	312.0	320.0					9																	107331609		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.161A>C	9.37:g.107331609A>C	ENSP00000334068:p.His54Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVG0|Q96R44	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H54P	ENST00000335040.1	37	c.161	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952202	0.53293	.	.	ENSG00000186943	ENST00000335040	T	0.00816	5.66	4.97	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.204155	0.34725	N	0.003735	T	0.03095	0.0091	M	0.86028	2.79	0.26902	N	0.967083	P	0.52577	0.954	P	0.52909	0.713	T	0.19160	-1.0314	10	0.59425	D	0.04	.	6.8149	0.23824	0.7287:0.0:0.2713:0.0	.	54	Q8NGS7	O13C8_HUMAN	P	54	ENSP00000334068:H54P	ENSP00000334068:H54P	H	+	2	0	OR13C8	106371430	0.000000	0.05858	0.993000	0.49108	0.958000	0.62258	-0.481000	0.06552	0.434000	0.26340	0.533000	0.62120	CAC	OR13C8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186943		0.438	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	406	0.25	1	A			107331609	107331609	+1	no_errors	ENST00000335040	ensembl	human	known	69_37n	missense	298	14.49	51	SNP	0.977	C
OR13C8	138802	genome.wustl.edu	37	9	107331617	107331617	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:107331617A>C	ENST00000335040.1	+	1	169	c.169A>C	c.(169-171)Acc>Ccc	p.T57P		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCACCTGCACACCCCCATGTA	0.428																																						dbGAP											0													335.0	309.0	318.0					9																	107331617		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.169A>C	9.37:g.107331617A>C	ENSP00000334068:p.Thr57Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVG0|Q96R44	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T57P	ENST00000335040.1	37	c.169	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064577	0.55432	.	.	ENSG00000186943	ENST00000335040	T	0.00372	7.73	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.01287	0.0042	H	0.95187	3.635	0.30373	N	0.78269	D	0.56968	0.978	P	0.59825	0.864	T	0.01065	-1.1463	10	0.87932	D	0	.	12.9272	0.58266	1.0:0.0:0.0:0.0	.	57	Q8NGS7	O13C8_HUMAN	P	57	ENSP00000334068:T57P	ENSP00000334068:T57P	T	+	1	0	OR13C8	106371438	0.009000	0.17119	1.000000	0.80357	0.971000	0.66376	2.156000	0.42310	2.212000	0.71576	0.533000	0.62120	ACC	OR13C8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186943		0.428	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	405	0.25	1	A			107331617	107331617	+1	no_errors	ENST00000335040	ensembl	human	known	69_37n	missense	302	16.07	58	SNP	0.978	C
OR14C36	127066	genome.wustl.edu	37	1	248512218	248512218	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248512218A>C	ENST00000317861.1	+	1	142	c.142A>C	c.(142-144)Acc>Ccc	p.T48P		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GACCGTCACCACCTGTGACAG	0.433																																						dbGAP											0													258.0	222.0	234.0					1																	248512218		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.142A>C	1.37:g.248512218A>C	ENSP00000324534:p.Thr48Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T48P	ENST00000317861.1	37	c.142	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980213	0.53827	.	.	ENSG00000177174	ENST00000317861	T	0.03065	4.06	4.05	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.157321	0.29451	U	0.012107	T	0.13030	0.0316	M	0.80332	2.49	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.05225	-1.0898	10	0.56958	D	0.05	.	3.5247	0.07755	0.6503:0.0:0.1767:0.1729	.	48	Q8NHC7	O14CZ_HUMAN	P	48	ENSP00000324534:T48P	ENSP00000324534:T48P	T	+	1	0	OR14C36	246578841	0.000000	0.05858	0.021000	0.16686	0.435000	0.31806	-0.517000	0.06275	1.728000	0.51552	0.324000	0.21423	ACC	OR14C36	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.433	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	251	0.00	0	A	NM_001001918		248512218	248512218	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	missense	279	11.11	35	SNP	0.000	C
OR14C36	127066	genome.wustl.edu	37	1	248512856	248512856	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248512856A>C	ENST00000317861.1	+	1	780	c.780A>C	c.(778-780)ccA>ccC	p.P260P		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCTCAGGCCACCTGCGATAC	0.478																																						dbGAP											0													165.0	118.0	134.0					1																	248512856		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.780A>C	1.37:g.248512856A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.P260	ENST00000317861.1	37	c.780	CCDS31112.1	1																																																																																			OR14C36	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.478	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	183	0.00	0	A	NM_001001918		248512856	248512856	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	silent	183	14.02	30	SNP	0.749	C
OR1A1	8383	genome.wustl.edu	37	17	3119602	3119602	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3119602A>C	ENST00000304094.1	+	1	688	c.688A>C	c.(688-690)Acc>Ccc	p.T230P		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTTCCTTCCACCAAGGGCGT	0.493																																						dbGAP											0													219.0	194.0	202.0					17																	3119602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.688A>C	17.37:g.3119602A>C	ENSP00000305207:p.Thr230Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T230P	ENST00000304094.1	37	c.688	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	A	9.815	1.184276	0.21870	.	.	ENSG00000172146	ENST00000304094	T	0.00152	8.66	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.00328	0.0010	L	0.57130	1.785	0.09310	N	1	D	0.61080	0.989	D	0.67382	0.951	T	0.54009	-0.8357	10	0.49607	T	0.09	.	8.2934	0.31971	0.9109:0.0:0.0891:0.0	.	230	Q9P1Q5	OR1A1_HUMAN	P	230	ENSP00000305207:T230P	ENSP00000305207:T230P	T	+	1	0	OR1A1	3066352	0.000000	0.05858	0.990000	0.47175	0.277000	0.26821	-0.199000	0.09491	2.089000	0.63090	0.358000	0.22013	ACC	OR1A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172146		0.493	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	HGNC	protein_coding	OTTHUMT00000207292.1	344	0.57	2	A	NM_014565		3119602	3119602	+1	no_errors	ENST00000304094	ensembl	human	known	69_37n	missense	395	12.11	55	SNP	0.002	C
OR1A1	8383	genome.wustl.edu	37	17	3119642	3119642	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3119642A>C	ENST00000304094.1	+	1	728	c.728A>C	c.(727-729)cAc>cCc	p.H243P		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTGGTTCCCACCTCACGGTT	0.473																																						dbGAP											0													179.0	154.0	163.0					17																	3119642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.728A>C	17.37:g.3119642A>C	ENSP00000305207:p.His243Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H243P	ENST00000304094.1	37	c.728	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064112	0.55432	.	.	ENSG00000172146	ENST00000304094	T	0.00318	8.12	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000047	T	0.01421	0.0046	H	0.98965	4.385	0.48452	D	0.999656	D	0.89917	1.0	D	0.91635	0.999	T	0.05599	-1.0875	10	0.87932	D	0	.	13.763	0.62977	1.0:0.0:0.0:0.0	.	243	Q9P1Q5	OR1A1_HUMAN	P	243	ENSP00000305207:H243P	ENSP00000305207:H243P	H	+	2	0	OR1A1	3066392	1.000000	0.71417	0.999000	0.59377	0.296000	0.27459	8.583000	0.90794	2.126000	0.65437	0.418000	0.28097	CAC	OR1A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172146		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	HGNC	protein_coding	OTTHUMT00000207292.1	313	0.32	1	A	NM_014565		3119642	3119642	+1	no_errors	ENST00000304094	ensembl	human	known	69_37n	missense	337	12.18	47	SNP	1.000	C
OR1B1	347169	genome.wustl.edu	37	9	125391705	125391705	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125391705T>G	ENST00000304833.3	-	1	147	c.110A>C	c.(109-111)tAc>tCc	p.Y37S	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGTGGTCAGGTAAATAGCCAG	0.507																																						dbGAP											0													98.0	89.0	92.0					9																	125391705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.110A>C	9.37:g.125391705T>G	ENSP00000303151:p.Tyr37Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFN3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y37S	ENST00000304833.3	37	c.110	CCDS35126.1	9	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601848	0.46423	.	.	ENSG00000171484	ENST00000304833	T	0.04654	3.58	4.59	4.59	0.56863	.	0.000000	0.37530	N	0.002053	T	0.31040	0.0784	H	0.95679	3.705	0.46954	D	0.999263	D	0.89917	1.0	D	0.97110	1.0	T	0.44937	-0.9295	10	0.87932	D	0	-12.121	13.3902	0.60821	0.0:0.0:0.0:1.0	.	37	Q8NGR6	OR1B1_HUMAN	S	37	ENSP00000303151:Y37S	ENSP00000303151:Y37S	Y	-	2	0	OR1B1	124431526	0.997000	0.39634	0.895000	0.35142	0.007000	0.05969	3.240000	0.51368	2.044000	0.60594	0.528000	0.53228	TAC	OR1B1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000171484		0.507	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2	181	0.00	0	T	NM_001004450		125391705	125391705	-1	no_errors	ENST00000304833	ensembl	human	novel	69_37n	missense	204	12.82	30	SNP	0.996	G
OR1D2	4991	genome.wustl.edu	37	17	2995891	2995891	+	Missense_Mutation	SNP	T	T	G	rs74364599		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:2995891T>G	ENST00000331459.1	-	1	399	c.400A>C	c.(400-402)Aca>Cca	p.T134P		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	134					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTCATGGCTGTGGTGTAGTGG	0.552																																						dbGAP											0													84.0	90.0	88.0					17																	2995891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.400A>C	17.37:g.2995891T>G	ENSP00000327585:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T134P	ENST00000331459.1	37	c.400	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	t	14.63	2.591333	0.46214	.	.	ENSG00000184166	ENST00000331459	T	0.01379	4.96	3.0	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07863	0.0197	H	0.95365	3.66	0.09310	N	1	P	0.46578	0.88	P	0.52598	0.703	T	0.06770	-1.0808	9	0.87932	D	0	.	6.7082	0.23262	0.0:0.1232:0.0:0.8768	.	134	P34982	OR1D2_HUMAN	P	134	ENSP00000327585:T134P	ENSP00000327585:T134P	T	-	1	0	OR1D2	2942641	0.000000	0.05858	0.523000	0.27875	0.918000	0.54935	-0.849000	0.04322	0.260000	0.21731	0.443000	0.29094	ACA	OR1D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000184166		0.552	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	258	0.77	2	T	NM_002548		2995891	2995891	-1	no_errors	ENST00000331459	ensembl	human	known	69_37n	missense	267	12.46	38	SNP	0.040	G
OR1J4	26219	genome.wustl.edu	37	9	125281936	125281936	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125281936A>C	ENST00000340750.1	+	1	517	c.517A>C	c.(517-519)Acc>Ccc	p.T173P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGCTGACAACACCATCCCCCA	0.507																																						dbGAP											0													166.0	138.0	147.0					9																	125281936		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.517A>C	9.37:g.125281936A>C	ENSP00000343521:p.Thr173Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T173P	ENST00000340750.1	37	c.517	CCDS35122.1	9	.	.	.	.	.	.	.	.	.	.	A	9.579	1.122990	0.20959	.	.	ENSG00000239590	ENST00000340750	T	0.00123	8.7	5.54	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	0.218482	0.22362	U	0.061070	T	0.00300	0.0009	M	0.70842	2.15	0.09310	N	1	P	0.50066	0.931	P	0.60609	0.877	T	0.44574	-0.9319	10	0.66056	D	0.02	.	6.7356	0.23407	0.4:0.2074:0.3926:0.0	.	173	Q8NGS1	OR1J4_HUMAN	P	173	ENSP00000343521:T173P	ENSP00000343521:T173P	T	+	1	0	OR1J4	124321757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.678000	0.01942	-0.334000	0.08463	-0.296000	0.09543	ACC	OR1J4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000239590		0.507	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J4	HGNC	protein_coding	OTTHUMT00000053936.1	207	0.48	1	A			125281936	125281936	+1	no_errors	ENST00000340750	ensembl	human	known	69_37n	missense	178	14.35	30	SNP	0.000	C
OR1L3	26735	genome.wustl.edu	37	9	125437907	125437907	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125437907A>C	ENST00000304820.2	+	1	593	c.499A>C	c.(499-501)Acc>Ccc	p.T167P		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GAATCGGCTCACCTTTTGTAC	0.443																																						dbGAP											0													273.0	248.0	256.0					9																	125437907		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.499A>C	9.37:g.125437907A>C	ENSP00000302863:p.Thr167Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNF4|Q6IFN1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T167P	ENST00000304820.2	37	c.499	CCDS35128.1	9	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288667	0.40494	.	.	ENSG00000171481	ENST00000304820	T	0.00039	8.85	4.54	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000883	T	0.00144	0.0004	N	0.05441	-0.05	0.09310	N	1	P	0.46621	0.881	P	0.62885	0.908	T	0.51513	-0.8696	10	0.72032	D	0.01	-7.0244	4.3565	0.11181	0.4494:0.0:0.0856:0.465	.	167	Q8NH93	OR1L3_HUMAN	P	167	ENSP00000302863:T167P	ENSP00000302863:T167P	T	+	1	0	OR1L3	124477728	0.000000	0.05858	0.510000	0.27712	0.842000	0.47809	0.039000	0.13884	0.335000	0.23614	0.524000	0.50904	ACC	OR1L3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171481		0.443	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L3	HGNC	protein_coding	OTTHUMT00000053950.1	710	0.14	1	A			125437907	125437907	+1	no_errors	ENST00000304820	ensembl	human	known	69_37n	missense	498	10.71	60	SNP	0.035	C
OR1L6	392390	genome.wustl.edu	37	9	125512860	125512860	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125512860A>C	ENST00000373684.1	+	1	842	c.842A>C	c.(841-843)cAc>cCc	p.H281P	OR1L6_ENST00000304720.2_Missense_Mutation_p.H245P			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGTGGCTCCCACCTCACTGCA	0.507																																						dbGAP											0													111.0	89.0	96.0					9																	125512860		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.842A>C	9.37:g.125512860A>C	ENSP00000362788:p.His281Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFM8|Q96R80	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H281P	ENST00000373684.1	37	c.842		9	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833953	0.71373	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00318	8.12;8.12	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.01189	0.0039	H	0.97707	4.06	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.29181	-1.0020	10	0.87932	D	0	-25.3188	13.3982	0.60868	1.0:0.0:0.0:0.0	.	281	Q8NGR2	OR1L6_HUMAN	P	281;245	ENSP00000362788:H281P;ENSP00000304235:H245P	ENSP00000304235:H245P	H	+	2	0	OR1L6	124552681	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.792000	0.91856	2.066000	0.61787	0.533000	0.62120	CAC	OR1L6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000171459		0.507	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	HGNC	protein_coding		243	0.41	1	A			125512860	125512860	+1	no_errors	ENST00000373684	ensembl	human	known	69_37n	missense	231	19.16	55	SNP	1.000	C
OR2A4	79541	genome.wustl.edu	37	6	132022351	132022351	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:132022351T>G	ENST00000315453.2	-	1	284	c.191A>C	c.(190-192)cAc>cCc	p.H64P	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	64					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		GACCGCCAGGTGTGAGAGGAA	0.617																																						dbGAP											0													7.0	8.0	8.0					6																	132022351		1916	3858	5774	-	-	-	SO:0001583	missense	0			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.191A>C	6.37:g.132022351T>G	ENSP00000319546:p.His64Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.H64P	ENST00000315453.2	37	c.191	CCDS5149.1	6	.	.	.	.	.	.	.	.	.	.	-	10.90	1.480372	0.26598	.	.	ENSG00000180658	ENST00000315453	T	0.02974	4.09	1.68	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.194422	0.25313	U	0.031575	T	0.04137	0.0115	M	0.92077	3.27	0.31775	N	0.631554	D	0.54207	0.965	P	0.46825	0.528	T	0.04840	-1.0923	10	0.87932	D	0	.	7.6472	0.28327	0.0:0.0:0.0:1.0	.	64	O95047	OR2A4_HUMAN	P	64	ENSP00000319546:H64P	ENSP00000319546:H64P	H	-	2	0	OR2A4	132064044	0.257000	0.24022	0.992000	0.48379	0.000000	0.00434	0.986000	0.29590	0.806000	0.34183	0.000000	0.15137	CAC	OR2A4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180658		0.617	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A4	HGNC	protein_coding	OTTHUMT00000109221.1	55	0.00	0	T	NM_030908		132022351	132022351	-1	no_errors	ENST00000315453	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	G
OR2AK2	391191	genome.wustl.edu	37	1	248128775	248128775	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248128775A>C	ENST00000366480.3	+	1	241	c.142A>C	c.(142-144)Acc>Ccc	p.T48P	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CGTCATTGCCACCCTCTTTAC	0.428																																					Melanoma(45;390 1181 23848 28461 41504)	dbGAP											0													207.0	195.0	199.0					1																	248128775		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.142A>C	1.37:g.248128775A>C	ENSP00000355436:p.Thr48Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T48P	ENST00000366480.3	37	c.142	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	8.283	0.815973	0.16607	.	.	ENSG00000187080	ENST00000366480	T	0.00605	6.27	3.15	-5.21	0.02815	.	.	.	.	.	T	0.00412	0.0013	N	0.21324	0.655	0.09310	N	1	B	0.33612	0.419	B	0.31101	0.124	T	0.41840	-0.9486	9	0.72032	D	0.01	.	5.1152	0.14831	0.1606:0.1361:0.5686:0.1346	.	48	Q8NG84	O2AK2_HUMAN	P	48	ENSP00000355436:T48P	ENSP00000355436:T48P	T	+	1	0	OR2AK2	246195398	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.545000	0.00933	-1.178000	0.02741	0.374000	0.22700	ACC	OR2AK2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000187080		0.428	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	518	0.38	2	A	NM_001004491		248128775	248128775	+1	no_errors	ENST00000366480	ensembl	human	known	69_37n	missense	583	10.00	65	SNP	0.000	C
OR2C1	4993	genome.wustl.edu	37	16	3406268	3406268	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:3406268A>C	ENST00000304936.2	+	1	380	c.328A>C	c.(328-330)Acc>Ccc	p.T110P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	110					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGGGGCCACCGAGTGCAT	0.582																																						dbGAP											0													51.0	41.0	44.0					16																	3406268		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.328A>C	16.37:g.3406268A>C	ENSP00000307726:p.Thr110Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T110P	ENST00000304936.2	37	c.328	CCDS10502.1	16	.	.	.	.	.	.	.	.	.	.	a	10.06	1.248060	0.22880	.	.	ENSG00000168158	ENST00000304936	T	0.02236	4.38	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000839	T	0.16769	0.0403	H	0.96015	3.755	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.24728	-1.0152	10	0.87932	D	0	.	8.363	0.32369	0.8007:0.1993:0.0:0.0	.	110	O95371	OR2C1_HUMAN	P	110	ENSP00000307726:T110P	ENSP00000307726:T110P	T	+	1	0	OR2C1	3346269	0.000000	0.05858	0.992000	0.48379	0.401000	0.30781	0.519000	0.22862	1.947000	0.56498	0.416000	0.27883	ACC	OR2C1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000168158		0.582	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C1	HGNC	protein_coding	OTTHUMT00000206993.3	83	0.00	0	A			3406268	3406268	+1	no_errors	ENST00000304936	ensembl	human	known	69_37n	missense	107	16.79	22	SNP	0.070	C
OR2F1	26211	genome.wustl.edu	37	7	143657253	143657253	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:143657253A>C	ENST00000392899.1	+	1	227	c.190A>C	c.(190-192)Acc>Ccc	p.T64P	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	64					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTTCTTTCTCACCAACCTCTC	0.502																																						dbGAP											0													280.0	266.0	271.0					7																	143657253		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.190A>C	7.37:g.143657253A>C	ENSP00000376633:p.Thr64Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T64P	ENST00000392899.1	37	c.190	CCDS5887.1	7	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307588	0.60305	.	.	ENSG00000213215	ENST00000392899	T	0.01981	4.52	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.231151	0.30771	N	0.008915	T	0.04497	0.0123	M	0.72894	2.215	0.32802	D	0.500303	P	0.40302	0.712	B	0.39876	0.312	T	0.03910	-1.0993	10	0.66056	D	0.02	-20.8805	9.8715	0.41177	0.8284:0.1716:0.0:0.0	.	64	Q13607	OR2F1_HUMAN	P	64	ENSP00000376633:T64P	ENSP00000376633:T64P	T	+	1	0	OR2F1	143288186	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.025000	0.13577	2.371000	0.80710	0.533000	0.62120	ACC	OR2F1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000213215		0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1	646	0.46	3	A			143657253	143657253	+1	no_errors	ENST00000392899	ensembl	human	known	69_37n	missense	449	13.13	68	SNP	0.947	C
OR2H2	7932	genome.wustl.edu	37	6	29556202	29556202	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29556202A>C	ENST00000383640.2	+	1	520	c.481A>C	c.(481-483)Acc>Ccc	p.T161P	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	161					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	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)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GACACCATCCACCCTGCACCT	0.582																																						dbGAP											0													129.0	132.0	131.0					6																	29556202		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.481A>C	6.37:g.29556202A>C	ENSP00000373136:p.Thr161Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T161P	ENST00000383640.2	37	c.481	CCDS34365.1	6	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483588	0.26598	.	.	ENSG00000204657	ENST00000383640	T	0.00269	8.37	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000688	T	0.00384	0.0012	M	0.93763	3.455	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.13926	-1.0491	10	0.87932	D	0	.	12.5336	0.56131	1.0:0.0:0.0:0.0	.	161	O95918	OR2H2_HUMAN	P	161	ENSP00000373136:T161P	ENSP00000373136:T161P	T	+	1	0	OR2H2	29664181	0.000000	0.05858	0.114000	0.21550	0.034000	0.12701	0.417000	0.21214	1.792000	0.52537	0.477000	0.44152	ACC	OR2H2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204657		0.582	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H2	HGNC	protein_coding	OTTHUMT00000076057.2	308	0.95	3	A			29556202	29556202	+1	no_errors	ENST00000383640	ensembl	human	known	69_37n	missense	255	18.99	60	SNP	0.059	C
OR2J1	442185	genome.wustl.edu	37	6	29069072	29069072	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29069072T>G	ENST00000377171.3	+	1	687	c.353T>G	c.(352-354)gTg>gGg	p.V118G				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						CTACTGGTGGTGATGTCCTAT	0.507																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.353T>G	6.37:g.29069072T>G	ENSP00000366376:p.Val118Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAS1|B0V1T2|Q9GZK1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V118G	ENST00000377171.3	37	c.353		6	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433145	0.62844	.	.	ENSG00000204702	ENST00000377171	T	0.05925	3.37	2.34	2.34	0.29019	.	.	.	.	.	T	0.07863	0.0197	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.03597	-1.1021	6	0.87932	D	0	.	10.077	0.42366	0.0:0.0:0.0:1.0	.	.	.	.	G	118	ENSP00000366376:V118G	ENSP00000366376:V118G	V	+	2	0	OR2J1	29177051	0.000000	0.05858	0.998000	0.56505	0.953000	0.61014	0.026000	0.13599	1.073000	0.40885	0.477000	0.44152	GTG	OR2J1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204702		0.507	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	393	0.25	1	T	NG_004683		29069072	29069072	+1	no_errors	ENST00000377171	ensembl	human	known	69_37n	missense	317	12.67	46	SNP	0.997	G
OR2J1	442185	genome.wustl.edu	37	6	29069220	29069220	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29069220A>C	ENST00000377171.3	+	1	835	c.501A>C	c.(499-501)atA>atC	p.I167I				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						CTTTCTGGATACCCCTATGTA	0.488																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.501A>C	6.37:g.29069220A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAS1|B0V1T2|Q9GZK1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I167	ENST00000377171.3	37	c.501		6																																																																																			OR2J1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204702		0.488	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	338	0.00	0	A	NG_004683		29069220	29069220	+1	no_errors	ENST00000377171	ensembl	human	known	69_37n	silent	229	11.24	29	SNP	0.028	C
OR2J3	442186	genome.wustl.edu	37	6	29080101	29080101	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29080101A>C	ENST00000377169.1	+	1	434	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CGTTTCTGCCACCTGCTGGCT	0.512																																						dbGAP											0													354.0	378.0	370.0					6																	29080101		1387	2627	4014	-	-	-	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.434A>C	6.37:g.29080101A>C	ENSP00000366374:p.His145Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H145P	ENST00000377169.1	37	c.434	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	A	8.821	0.937517	0.18206	.	.	ENSG00000204701	ENST00000377169	T	0.37058	1.22	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11922	0.0290	N	0.16656	0.425	0.27632	N	0.94801	B	0.30634	0.288	B	0.40038	0.317	T	0.28170	-1.0052	9	0.36615	T	0.2	.	6.8216	0.23861	0.7919:0.0:0.0:0.2081	.	145	O76001	OR2J3_HUMAN	P	145	ENSP00000366374:H145P	ENSP00000366374:H145P	H	+	2	0	OR2J3	29188080	0.000000	0.05858	0.516000	0.27786	0.901000	0.52897	0.195000	0.17155	1.268000	0.44264	0.358000	0.22013	CAC	OR2J3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204701		0.512	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	322	0.00	0	A			29080101	29080101	+1	no_errors	ENST00000377169	ensembl	human	known	69_37n	missense	306	15.66	57	SNP	0.727	C
OR2J3	442186	genome.wustl.edu	37	6	29080163	29080163	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29080163A>C	ENST00000377169.1	+	1	496	c.496A>C	c.(496-498)Acc>Ccc	p.T166P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTCCTCCTTCACCTTCTGGGT	0.483																																						dbGAP											0													181.0	192.0	189.0					6																	29080163		1308	2580	3888	-	-	-	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.496A>C	6.37:g.29080163A>C	ENSP00000366374:p.Thr166Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T166P	ENST00000377169.1	37	c.496	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	A	10.37	1.332796	0.24167	.	.	ENSG00000204701	ENST00000377169	T	0.35973	1.28	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47801	0.1465	M	0.90705	3.14	0.09310	N	1	P	0.50943	0.94	D	0.63488	0.915	T	0.37337	-0.9710	9	0.87932	D	0	.	6.2423	0.20797	0.8763:0.0:0.1237:0.0	.	166	O76001	OR2J3_HUMAN	P	166	ENSP00000366374:T166P	ENSP00000366374:T166P	T	+	1	0	OR2J3	29188142	0.000000	0.05858	0.291000	0.24904	0.206000	0.24218	0.208000	0.17415	1.268000	0.44264	0.358000	0.22013	ACC	OR2J3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204701		0.483	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	263	0.74	2	A			29080163	29080163	+1	no_errors	ENST00000377169	ensembl	human	known	69_37n	missense	182	23.53	56	SNP	0.007	C
OR2J2	26707	genome.wustl.edu	37	6	29141989	29141989	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29141989A>C	ENST00000377167.2	+	1	679	c.577A>C	c.(577-579)Acc>Ccc	p.T193P		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATGTGTTGACACCCATGCAAA	0.473																																						dbGAP											0													161.0	138.0	145.0					6																	29141989		1944	4164	6108	-	-	-	SO:0001583	missense	0				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.577A>C	6.37:g.29141989A>C	ENSP00000366372:p.Thr193Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T193P	ENST00000377167.2	37	c.577	CCDS43434.1	6	.	.	.	.	.	.	.	.	.	.	A	8.544	0.873883	0.17395	.	.	ENSG00000204700	ENST00000377167	T	0.00245	8.45	2.3	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.77712	2.385	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.41360	-0.9513	9	0.72032	D	0.01	.	3.0746	0.06242	0.6495:0.0:0.1399:0.2106	.	193	O76002	OR2J2_HUMAN	P	193	ENSP00000366372:T193P	ENSP00000366372:T193P	T	+	1	0	OR2J2	29249968	0.000000	0.05858	0.066000	0.19879	0.362000	0.29581	0.167000	0.16602	0.134000	0.18681	0.172000	0.16884	ACC	OR2J2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000204700		0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	HGNC	protein_coding	OTTHUMT00000076131.2	363	0.00	0	A			29141989	29141989	+1	no_errors	ENST00000377167	ensembl	human	known	69_37n	missense	296	10.00	33	SNP	0.000	C
OR2H2	7932	genome.wustl.edu	37	6	29556460	29556460	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29556460A>C	ENST00000383640.2	+	1	778	c.739A>C	c.(739-741)Acc>Ccc	p.T247P	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	247					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	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)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CACTGTGGTCACCCTCTTCTA	0.527																																						dbGAP											0													83.0	81.0	82.0					6																	29556460		1511	2706	4217	-	-	-	SO:0001583	missense	0				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.739A>C	6.37:g.29556460A>C	ENSP00000373136:p.Thr247Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T247P	ENST00000383640.2	37	c.739	CCDS34365.1	6	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130015	0.37630	.	.	ENSG00000204657	ENST00000383640	T	0.39997	1.05	4.1	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.175455	0.27682	N	0.018297	T	0.37571	0.1008	M	0.80616	2.505	0.09310	N	1	D	0.56968	0.978	P	0.60886	0.88	T	0.29549	-1.0008	10	0.62326	D	0.03	.	0.6058	0.00752	0.4042:0.1647:0.1132:0.3179	.	247	O95918	OR2H2_HUMAN	P	247	ENSP00000373136:T247P	ENSP00000373136:T247P	T	+	1	0	OR2H2	29664439	0.000000	0.05858	0.840000	0.33206	0.908000	0.53690	-0.474000	0.06607	0.564000	0.29238	0.482000	0.46254	ACC	OR2H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204657		0.527	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H2	HGNC	protein_coding	OTTHUMT00000076057.2	276	0.72	2	A			29556460	29556460	+1	no_errors	ENST00000383640	ensembl	human	known	69_37n	missense	241	13.26	37	SNP	0.148	C
OR2M5	127059	genome.wustl.edu	37	1	248309180	248309180	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248309180A>C	ENST00000366476.1	+	1	731	c.731A>C	c.(730-732)cAc>cCc	p.H244P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	244			H -> N (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTTCCTCTCACCTCATGGTG	0.493																																						dbGAP											0													238.0	220.0	226.0					1																	248309180		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.731A>C	1.37:g.248309180A>C	ENSP00000355432:p.His244Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H244P	ENST00000366476.1	37	c.731	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	a	15.60	2.882606	0.51908	.	.	ENSG00000162727	ENST00000366476	T	0.00318	8.12	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33515	U	0.004832	T	0.01254	0.0041	H	0.98786	4.33	0.29621	N	0.846172	D	0.89917	1.0	D	0.80764	0.994	T	0.03597	-1.1021	10	0.87932	D	0	.	11.5465	0.50696	1.0:0.0:0.0:0.0	.	244	A3KFT3	OR2M5_HUMAN	P	244	ENSP00000355432:H244P	ENSP00000355432:H244P	H	+	2	0	OR2M5	246375803	0.999000	0.42202	0.026000	0.17262	0.744000	0.42396	4.877000	0.63086	1.250000	0.43966	0.403000	0.27427	CAC	OR2M5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000162727		0.493	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	428	0.00	0	A	NM_001004690		248309180	248309180	+1	no_errors	ENST00000366476	ensembl	human	known	69_37n	missense	560	12.36	79	SNP	0.996	C
OR2T1	26696	genome.wustl.edu	37	1	248569616	248569616	+	Silent	SNP	A	A	C	rs146611066	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248569616A>C	ENST00000366474.1	+	1	321	c.321A>C	c.(319-321)acA>acC	p.T107T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTCATACACCCATGTACT	0.428													.|||	2	0.000399361	0.0015	0.0	5008	,	,		22361	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													176.0	158.0	165.0					1																	248569616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.321A>C	1.37:g.248569616A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T107	ENST00000366474.1	37	c.321	CCDS31115.1	1																																																																																			OR2T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000175143		0.428	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	HGNC	protein_coding	OTTHUMT00000097346.2	219	0.00	0	A			248569616	248569616	+1	no_errors	ENST00000366474	ensembl	human	known	69_37n	silent	294	11.14	37	SNP	0.007	C
OR2Z1	284383	genome.wustl.edu	37	19	8841619	8841619	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:8841619A>C	ENST00000324060.2	+	1	304	c.229A>C	c.(229-231)Acc>Ccc	p.T77P		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCATGGTCACCATCCCCAA	0.547																																						dbGAP											0													129.0	113.0	119.0					19																	8841619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.229A>C	19.37:g.8841619A>C	ENSP00000316284:p.Thr77Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T77P	ENST00000324060.2	37	c.229	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165545	0.38217	.	.	ENSG00000181733	ENST00000324060	T	0.00902	5.56	4.33	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.104261	0.42821	D	0.000660	T	0.06826	0.0174	M	0.93678	3.445	0.21325	N	0.999725	D	0.89917	1.0	D	0.76071	0.987	T	0.08391	-1.0724	10	0.72032	D	0.01	.	8.3764	0.32445	0.9029:0.0:0.0971:0.0	.	77	Q8NG97	OR2Z1_HUMAN	P	77	ENSP00000316284:T77P	ENSP00000316284:T77P	T	+	1	0	OR2Z1	8702619	0.011000	0.17503	0.993000	0.49108	0.382000	0.30200	2.619000	0.46401	0.663000	0.31027	-0.486000	0.04755	ACC	OR2Z1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181733		0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	120	0.83	1	A			8841619	8841619	+1	no_errors	ENST00000324060	ensembl	human	known	69_37n	missense	135	12.26	19	SNP	0.646	C
OR4B1	119765	genome.wustl.edu	37	11	48238444	48238444	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:48238444T>G	ENST00000309562.2	+	1	101	c.83T>G	c.(82-84)gTg>gGg	p.V28G		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCTTTGTGGTGTTTCTCCCC	0.498																																						dbGAP											0													257.0	210.0	226.0					11																	48238444		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.83T>G	11.37:g.48238444T>G	ENSP00000311605:p.Val28Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V28G	ENST00000309562.2	37	c.83	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	T	6.801	0.516794	0.13005	.	.	ENSG00000175619	ENST00000309562	T	0.03152	4.03	5.4	1.84	0.25277	.	0.484707	0.16627	N	0.206214	T	0.06050	0.0157	M	0.62266	1.93	0.18873	N	0.999983	P	0.37781	0.608	B	0.40101	0.319	T	0.19031	-1.0318	10	0.66056	D	0.02	.	8.1451	0.31106	0.0:0.2401:0.0:0.7598	.	28	Q8NGF8	OR4B1_HUMAN	G	28	ENSP00000311605:V28G	ENSP00000311605:V28G	V	+	2	0	OR4B1	48195020	0.831000	0.29352	0.076000	0.20297	0.050000	0.14768	3.916000	0.56416	0.062000	0.16340	-0.875000	0.02981	GTG	OR4B1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000175619		0.498	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	214	0.00	0	T	NM_001005470		48238444	48238444	+1	no_errors	ENST00000309562	ensembl	human	known	69_37n	missense	318	10.17	36	SNP	0.184	G
OR4C46	119749	genome.wustl.edu	37	11	51515990	51515990	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:51515990A>C	ENST00000328188.1	+	1	709	c.709A>C	c.(709-711)Acc>Ccc	p.T237P		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGCCCTCTCCACCTGTGTCTC	0.478																																						dbGAP											0													130.0	110.0	117.0					11																	51515990		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.709A>C	11.37:g.51515990A>C	ENSP00000329056:p.Thr237Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T237P	ENST00000328188.1	37	c.709	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	12.45	1.941980	0.34283	.	.	ENSG00000185926	ENST00000328188	T	0.42131	0.98	2.33	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.71204	0.3312	H	0.97186	3.955	0.37189	D	0.903831	D	0.71674	0.998	D	0.78314	0.991	T	0.78695	-0.2104	10	0.87932	D	0	.	8.2948	0.31980	1.0:0.0:0.0:0.0	.	237	A6NHA9	O4C46_HUMAN	P	237	ENSP00000329056:T237P	ENSP00000329056:T237P	T	+	1	0	OR4C46	51372566	1.000000	0.71417	0.736000	0.30914	0.084000	0.17831	8.435000	0.90297	1.105000	0.41606	0.102000	0.15555	ACC	OR4C46	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185926		0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	158	0.63	1	A	NM_001004703		51515990	51515990	+1	no_errors	ENST00000328188	ensembl	human	known	69_37n	missense	98	18.55	23	SNP	1.000	C
OR4A16	81327	genome.wustl.edu	37	11	55111279	55111279	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55111279T>G	ENST00000314721.2	+	1	653	c.603T>G	c.(601-603)ggT>ggG	p.G201G		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGCCAATGGTGGAATAATTT	0.433																																						dbGAP											0													251.0	224.0	233.0					11																	55111279		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.603T>G	11.37:g.55111279T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G201	ENST00000314721.2	37	c.603	CCDS31499.1	11																																																																																			OR4A16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181961		0.433	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	316	0.00	0	T	NM_001005274		55111279	55111279	+1	no_errors	ENST00000314721	ensembl	human	known	69_37n	silent	180	10.00	20	SNP	0.108	G
OR4A15	81328	genome.wustl.edu	37	11	55135846	55135846	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55135846A>C	ENST00000314706.3	+	1	487	c.487A>C	c.(487-489)Acc>Ccc	p.T163P		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAATTGATCACCATGAATCG	0.418																																						dbGAP											0													228.0	207.0	214.0					11																	55135846		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.487A>C	11.37:g.55135846A>C	ENSP00000325065:p.Thr163Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T163P	ENST00000314706.3	37	c.487	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381454	0.11524	.	.	ENSG00000181958	ENST00000314706	T	0.01084	5.36	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.405770	0.20814	N	0.085192	T	0.01592	0.0051	L	0.52364	1.645	0.09310	N	1	P	0.36183	0.542	B	0.38921	0.285	T	0.43686	-0.9376	10	0.87932	D	0	.	5.3059	0.15803	0.8678:0.0:0.1322:0.0	.	163	Q8NGL6	O4A15_HUMAN	P	163	ENSP00000325065:T163P	ENSP00000325065:T163P	T	+	1	0	OR4A15	54892422	0.002000	0.14202	0.652000	0.29579	0.059000	0.15707	0.375000	0.20518	1.456000	0.47831	0.403000	0.27427	ACC	OR4A15	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181958		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	368	0.00	0	A	NM_001005275		55135846	55135846	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	missense	261	11.19	33	SNP	0.163	C
OR4C6	219432	genome.wustl.edu	37	11	55433074	55433074	+	Silent	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55433074A>G	ENST00000314259.3	+	1	461	c.432A>G	c.(430-432)ggA>ggG	p.G144G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TAATGGTAGGAGGGGCTTGGG	0.488																																						dbGAP											0													92.0	90.0	91.0					11																	55433074		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.432A>G	11.37:g.55433074A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP11|Q6IFD2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G144	ENST00000314259.3	37	c.432	CCDS31506.1	11																																																																																			OR4C6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181903		0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	301	0.33	1	A	NM_001004704		55433074	55433074	+1	no_errors	ENST00000314259	ensembl	human	known	69_37n	silent	237	11.57	31	SNP	0.000	G
OR4C6	219432	genome.wustl.edu	37	11	55433430	55433430	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55433430A>C	ENST00000314259.3	+	1	817	c.788A>C	c.(787-789)cAc>cCc	p.H263P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGGTCACTCACCCCATAGAC	0.498																																						dbGAP											0													107.0	104.0	105.0					11																	55433430		2200	4296	6496	-	-	-	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.788A>C	11.37:g.55433430A>C	ENSP00000324769:p.His263Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H263P	ENST00000314259.3	37	c.788	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	8.759	0.923217	0.18056	.	.	ENSG00000181903	ENST00000314259	T	0.00123	8.7	4.07	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.482459	0.15508	N	0.258688	T	0.00178	0.0005	L	0.37850	1.14	0.09310	N	1	B	0.29162	0.235	B	0.39805	0.31	T	0.16689	-1.0394	10	0.87932	D	0	.	7.9213	0.29848	0.5113:0.0:0.0:0.4887	.	263	Q8NH72	OR4C6_HUMAN	P	263	ENSP00000324769:H263P	ENSP00000324769:H263P	H	+	2	0	OR4C6	55190006	0.000000	0.05858	0.169000	0.22859	0.595000	0.36748	-4.499000	0.00224	0.394000	0.25230	0.444000	0.29173	CAC	OR4C6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181903		0.498	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	300	0.33	1	A	NM_001004704		55433430	55433430	+1	no_errors	ENST00000314259	ensembl	human	known	69_37n	missense	206	12.71	30	SNP	0.000	C
OR4D10	390197	genome.wustl.edu	37	11	59245689	59245689	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:59245689A>C	ENST00000530162.1	+	1	844	c.787A>C	c.(787-789)Act>Cct	p.T263P		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGGCCCTTCACTGCCCTCCC	0.557																																						dbGAP											0													194.0	173.0	180.0					11																	59245689		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.787A>C	11.37:g.59245689A>C	ENSP00000436424:p.Thr263Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T263P	ENST00000530162.1	37	c.787	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203418	0.58234	.	.	ENSG00000254466	ENST00000530162	T	0.00130	8.69	4.7	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.37800	1.135	0.26522	N	0.974402	P	0.45957	0.869	P	0.60609	0.877	T	0.49597	-0.8923	9	0.87932	D	0	.	3.9273	0.09269	0.5812:0.0:0.0903:0.3285	.	263	Q8NGI6	OR4DA_HUMAN	P	263	ENSP00000436424:T263P	ENSP00000436424:T263P	T	+	1	0	OR4D10	59002265	0.000000	0.05858	1.000000	0.80357	0.933000	0.57130	0.268000	0.18571	0.715000	0.32103	0.528000	0.53228	ACT	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000254466		0.557	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	247	0.00	0	A	NM_001004705		59245689	59245689	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	missense	237	11.57	31	SNP	0.716	C
OR4D11	219986	genome.wustl.edu	37	11	59271868	59271868	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:59271868A>C	ENST00000313253.1	+	1	820	c.820A>C	c.(820-822)Acc>Ccc	p.T274P		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CATCTCTGTCACCTTCACTGT	0.532																																						dbGAP											0													188.0	172.0	178.0					11																	59271868		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.820A>C	11.37:g.59271868A>C	ENSP00000320077:p.Thr274Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T274P	ENST00000313253.1	37	c.820	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	a	14.28	2.488985	0.44249	.	.	ENSG00000176200	ENST00000313253	T	0.00130	8.69	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.250325	0.28322	N	0.015772	T	0.00300	0.0009	L	0.41824	1.3	0.32214	N	0.576139	P	0.49307	0.922	P	0.62885	0.908	T	0.67217	-0.5726	10	0.87932	D	0	-28.1825	10.4867	0.44726	0.8372:0.1628:0.0:0.0	.	274	Q8NGI4	OR4DB_HUMAN	P	274	ENSP00000320077:T274P	ENSP00000320077:T274P	T	+	1	0	OR4D11	59028444	0.000000	0.05858	0.994000	0.49952	0.759000	0.43091	-0.213000	0.09305	2.065000	0.61736	0.455000	0.32223	ACC	OR4D11	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176200		0.532	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	HGNC	protein_coding	OTTHUMT00000394236.1	233	0.43	1	A	NM_001004706		59271868	59271868	+1	no_errors	ENST00000313253	ensembl	human	known	69_37n	missense	191	16.45	38	SNP	0.941	C
OR4D5	219875	genome.wustl.edu	37	11	123811038	123811038	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123811038A>C	ENST00000307033.2	+	1	789	c.715A>C	c.(715-717)Acc>Ccc	p.T239P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCCCTGTCTACCTGTGCCTC	0.547																																						dbGAP											0													235.0	194.0	208.0					11																	123811038		2202	4299	6501	-	-	-	SO:0001583	missense	0			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.715A>C	11.37:g.123811038A>C	ENSP00000305970:p.Thr239Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T239P	ENST00000307033.2	37	c.715	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870768	0.72065	.	.	ENSG00000171014	ENST00000307033	T	0.42131	0.98	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000129	T	0.78368	0.4272	H	0.98295	4.195	0.46823	D	0.999213	D	0.89917	1.0	D	0.97110	1.0	D	0.87145	0.2205	10	0.87932	D	0	-15.8284	15.2419	0.73476	1.0:0.0:0.0:0.0	.	239	Q8NGN0	OR4D5_HUMAN	P	239	ENSP00000305970:T239P	ENSP00000305970:T239P	T	+	1	0	OR4D5	123316248	1.000000	0.71417	0.991000	0.47740	0.610000	0.37248	7.183000	0.77697	2.078000	0.62432	0.528000	0.53228	ACC	OR4D5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000171014		0.547	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	269	0.37	1	A	NM_001001965		123811038	123811038	+1	no_errors	ENST00000307033	ensembl	human	known	69_37n	missense	215	11.11	27	SNP	1.000	C
OR4K1	79544	genome.wustl.edu	37	14	20403851	20403851	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20403851T>G	ENST00000285600.4	+	1	85	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V9A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAATCGATGGTGTCTGAGTTT	0.363																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											335.0	376.0	362.0					14																	20403851		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.26T>G	14.37:g.20403851T>G	ENSP00000285600:p.Val9Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V9G	ENST00000285600.4	37	c.26	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	9.271	1.045746	0.19748	.	.	ENSG00000155249	ENST00000285600	T	0.00912	5.55	4.74	4.74	0.60224	.	0.000000	0.44688	D	0.000431	T	0.02494	0.0076	M	0.85299	2.745	0.27919	N	0.93831	P	0.42456	0.78	B	0.41174	0.349	T	0.09640	-1.0665	10	0.87932	D	0	.	12.2107	0.54377	0.0:0.0:0.0:1.0	.	9	Q8NGD4	OR4K1_HUMAN	G	9	ENSP00000285600:V9G	ENSP00000285600:V9G	V	+	2	0	OR4K1	19473691	0.966000	0.33281	0.139000	0.22197	0.356000	0.29392	4.650000	0.61440	1.989000	0.58080	0.459000	0.35465	GTG	OR4K1	-	NULL	ENSG00000155249		0.363	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	648	0.31	2	T			20403851	20403851	+1	no_errors	ENST00000285600	ensembl	human	known	69_37n	missense	450	11.59	59	SNP	0.235	G
OR4K2	390431	genome.wustl.edu	37	14	20344658	20344658	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20344658A>C	ENST00000298642.2	+	1	268	c.232A>C	c.(232-234)Acc>Ccc	p.T78P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTTCGCCACCCCAAAGAT	0.413																																						dbGAP											0													280.0	271.0	274.0					14																	20344658		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.232A>C	14.37:g.20344658A>C	ENSP00000298642:p.Thr78Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T78P	ENST00000298642.2	37	c.232	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	16.39	3.109737	0.56398	.	.	ENSG00000165762	ENST00000298642	T	0.03065	4.06	5.27	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.21801	0.0525	H	0.94847	3.59	0.29870	N	0.826918	D	0.64830	0.994	D	0.65443	0.935	T	0.17961	-1.0352	10	0.72032	D	0.01	.	9.4799	0.38895	0.9141:0.0:0.0859:0.0	.	78	Q8NGD2	OR4K2_HUMAN	P	78	ENSP00000298642:T78P	ENSP00000298642:T78P	T	+	1	0	OR4K2	19414498	0.000000	0.05858	1.000000	0.80357	0.964000	0.63967	-0.716000	0.04991	2.211000	0.71520	0.460000	0.39030	ACC	OR4K2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165762		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	595	0.50	3	A			20344658	20344658	+1	no_errors	ENST00000298642	ensembl	human	known	69_37n	missense	552	10.23	63	SNP	0.997	C
OR4K2	390431	genome.wustl.edu	37	14	20344740	20344740	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20344740A>C	ENST00000298642.2	+	1	350	c.314A>C	c.(313-315)cAc>cCc	p.H105P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H105R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTTCTCCACCTTTTCACT	0.433																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											198.0	203.0	201.0					14																	20344740		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.314A>C	14.37:g.20344740A>C	ENSP00000298642:p.His105Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H105P	ENST00000298642.2	37	c.314	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	15.64	2.892934	0.52121	.	.	ENSG00000165762	ENST00000298642	T	0.00547	6.66	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.03348	0.0097	H	0.96080	3.765	0.28732	N	0.902463	D	0.89917	1.0	D	0.79108	0.992	T	0.08554	-1.0716	10	0.87932	D	0	.	8.289	0.31946	0.8238:0.0:0.0:0.1762	.	105	Q8NGD2	OR4K2_HUMAN	P	105	ENSP00000298642:H105P	ENSP00000298642:H105P	H	+	2	0	OR4K2	19414580	0.000000	0.05858	0.983000	0.44433	0.970000	0.65996	0.963000	0.29293	2.148000	0.66965	0.460000	0.39030	CAC	OR4K2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165762		0.433	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	585	0.34	2	A			20344740	20344740	+1	no_errors	ENST00000298642	ensembl	human	known	69_37n	missense	474	12.84	70	SNP	0.688	C
OR4K1	79544	genome.wustl.edu	37	14	20404057	20404057	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20404057A>C	ENST00000285600.4	+	1	291	c.232A>C	c.(232-234)Acc>Ccc	p.T78P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAACTTTGCCACCCCCAAGAT	0.388																																						dbGAP											0													208.0	218.0	214.0					14																	20404057		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.232A>C	14.37:g.20404057A>C	ENSP00000285600:p.Thr78Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T78P	ENST00000285600.4	37	c.232	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	12.85	2.061320	0.36373	.	.	ENSG00000155249	ENST00000285600	T	0.03065	4.06	4.94	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.11537	0.0281	H	0.94886	3.595	0.09310	N	1	P	0.42456	0.78	B	0.43536	0.423	T	0.19484	-1.0304	10	0.72032	D	0.01	.	6.4688	0.21997	0.8144:0.0:0.1856:0.0	.	78	Q8NGD4	OR4K1_HUMAN	P	78	ENSP00000285600:T78P	ENSP00000285600:T78P	T	+	1	0	OR4K1	19473897	0.000000	0.05858	0.993000	0.49108	0.966000	0.64601	0.002000	0.13061	2.066000	0.61787	0.533000	0.62120	ACC	OR4K1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000155249		0.388	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	509	0.58	3	A			20404057	20404057	+1	no_errors	ENST00000285600	ensembl	human	known	69_37n	missense	374	13.56	59	SNP	0.034	C
OR4M1	441670	genome.wustl.edu	37	14	20249202	20249202	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20249202A>C	ENST00000315957.4	+	1	802	c.721A>C	c.(721-723)Acc>Ccc	p.T241P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCATGTCCACCTGCTATTC	0.458																																						dbGAP											0													266.0	233.0	244.0					14																	20249202		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.721A>C	14.37:g.20249202A>C	ENSP00000319654:p.Thr241Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T241P	ENST00000315957.4	37	c.721	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	20.9	4.061352	0.76187	.	.	ENSG00000176299	ENST00000315957	T	0.42131	0.98	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.74928	0.3781	H	0.97707	4.06	0.47183	D	0.999342	D	0.89917	1.0	D	0.91635	0.999	T	0.83239	-0.0059	10	0.87932	D	0	-20.3409	11.9521	0.52961	1.0:0.0:0.0:0.0	.	241	Q8NGD0	OR4M1_HUMAN	P	241	ENSP00000319654:T241P	ENSP00000319654:T241P	T	+	1	0	OR4M1	19319042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.499000	0.90494	1.998000	0.58463	0.414000	0.27820	ACC	OR4M1	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176299		0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	490	0.61	3	A			20249202	20249202	+1	no_errors	ENST00000315957	ensembl	human	known	69_37n	missense	364	13.30	56	SNP	1.000	C
OR4L1	122742	genome.wustl.edu	37	14	20528783	20528783	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20528783A>C	ENST00000315683.1	+	1	580	c.580A>C	c.(580-582)Acc>Ccc	p.T194P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGAAACATACACCCTGGAATT	0.408																																						dbGAP											0													227.0	208.0	214.0					14																	20528783		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.580A>C	14.37:g.20528783A>C	ENSP00000319217:p.Thr194Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T194P	ENST00000315683.1	37	c.580	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	8.553	0.875870	0.17395	.	.	ENSG00000176246	ENST00000315683	T	0.00145	8.67	4.37	0.318	0.15867	GPCR, rhodopsin-like superfamily (1);	0.835708	0.10584	N	0.657567	T	0.00178	0.0005	L	0.43152	1.355	0.09310	N	1	P	0.45634	0.863	P	0.50314	0.637	T	0.24154	-1.0168	10	0.25751	T	0.34	.	3.8639	0.09007	0.582:0.0:0.1014:0.3165	.	194	Q8NH43	OR4L1_HUMAN	P	194	ENSP00000319217:T194P	ENSP00000319217:T194P	T	+	1	0	OR4L1	19598623	0.000000	0.05858	0.019000	0.16419	0.061000	0.15899	-0.586000	0.05787	-0.034000	0.13713	-0.417000	0.06048	ACC	OR4L1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176246		0.408	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	212	0.47	1	A			20528783	20528783	+1	no_errors	ENST00000315683	ensembl	human	known	69_37n	missense	165	17.09	34	SNP	0.002	C
OR4M2	390538	genome.wustl.edu	37	15	22369149	22369149	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:22369149A>C	ENST00000332663.2	+	1	672	c.574A>C	c.(574-576)Acc>Ccc	p.T192P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTGCCAACACCTTCCCAGA	0.478																																						dbGAP											0													346.0	248.0	281.0					15																	22369149		2203	4297	6500	-	-	-	SO:0001583	missense	0			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.574A>C	15.37:g.22369149A>C	ENSP00000329467:p.Thr192Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH16|Q6IEY2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T192P	ENST00000332663.2	37	c.574	CCDS32172.1	15	.	.	.	.	.	.	.	.	.	.	.	13.14	2.148264	0.37923	.	.	ENSG00000182974	ENST00000332663	T	0.00245	8.45	2.5	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.00468	0.0015	M	0.83953	2.67	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.42716	-0.9435	10	0.87932	D	0	-18.1313	6.688	0.23156	0.7573:0.2427:0.0:0.0	.	192	Q8NGB6	OR4M2_HUMAN	P	192	ENSP00000329467:T192P	ENSP00000329467:T192P	T	+	1	0	OR4M2	19870513	0.170000	0.23016	0.948000	0.38648	0.988000	0.76386	2.184000	0.42575	0.183000	0.20059	0.368000	0.22195	ACC	OR4M2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000182974		0.478	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	1084	0.46	5	A			22369149	22369149	+1	no_errors	ENST00000332663	ensembl	human	known	69_37n	missense	925	10.13	105	SNP	0.075	C
OR4M2	390538	genome.wustl.edu	37	15	22369296	22369296	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:22369296A>C	ENST00000332663.2	+	1	819	c.721A>C	c.(721-723)Acc>Ccc	p.T241P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCCATGTCCACCTGCTATTC	0.458																																						dbGAP											0													280.0	197.0	225.0					15																	22369296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.721A>C	15.37:g.22369296A>C	ENSP00000329467:p.Thr241Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH16|Q6IEY2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T241P	ENST00000332663.2	37	c.721	CCDS32172.1	15	.	.	.	.	.	.	.	.	.	.	.	16.70	3.196327	0.58126	.	.	ENSG00000182974	ENST00000332663	T	0.42131	0.98	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.73225	0.3560	H	0.98507	4.25	0.42985	D	0.994473	D	0.76494	0.999	D	0.75020	0.985	T	0.78086	-0.2341	10	0.87932	D	0	-20.3409	8.1829	0.31322	1.0:0.0:0.0:0.0	.	241	Q8NGB6	OR4M2_HUMAN	P	241	ENSP00000329467:T241P	ENSP00000329467:T241P	T	+	1	0	OR4M2	19870660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.396000	0.90190	1.068000	0.40764	0.368000	0.22195	ACC	OR4M2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000182974		0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	705	0.14	1	A			22369296	22369296	+1	no_errors	ENST00000332663	ensembl	human	known	69_37n	missense	561	13.56	88	SNP	0.990	C
OR4N2	390429	genome.wustl.edu	37	14	20296469	20296469	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20296469A>C	ENST00000315947.1	+	1	862	c.862A>C	c.(862-864)Acc>Ccc	p.T288P	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCATTTATACCCTTCGCAA	0.413																																						dbGAP											0													54.0	56.0	55.0					14																	20296469		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.862A>C	14.37:g.20296469A>C	ENSP00000319601:p.Thr288Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T288P	ENST00000315947.1	37	c.862	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	12.29	1.892581	0.33442	.	.	ENSG00000176294	ENST00000315947	T	0.38560	1.13	4.57	4.57	0.56435	.	0.000000	0.49305	D	0.000157	T	0.72317	0.3445	H	0.95151	3.63	0.29563	N	0.850486	D	0.76494	0.999	D	0.73380	0.98	T	0.75476	-0.3304	10	0.87932	D	0	-16.8941	12.161	0.54103	1.0:0.0:0.0:0.0	.	288	Q8NGD1	OR4N2_HUMAN	P	288	ENSP00000319601:T288P	ENSP00000319601:T288P	T	+	1	0	OR4N2	19366309	0.996000	0.38824	0.931000	0.37212	0.153000	0.21895	2.673000	0.46858	2.037000	0.60232	0.482000	0.46254	ACC	OR4N2	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000176294		0.413	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	346	0.29	1	A			20296469	20296469	+1	no_errors	ENST00000315947	ensembl	human	known	69_37n	missense	237	18.28	53	SNP	0.995	C
OR4S2	219431	genome.wustl.edu	37	11	55418918	55418918	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55418918A>C	ENST00000312422.2	+	1	539	c.539A>C	c.(538-540)cAc>cCc	p.H180P		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGTGATGTTCACCCTGTGTTG	0.448																																						dbGAP											0													264.0	200.0	222.0					11																	55418918		2182	4052	6234	-	-	-	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.539A>C	11.37:g.55418918A>C	ENSP00000310337:p.His180Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF72	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H180P	ENST00000312422.2	37	c.539	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407669	0.42715	.	.	ENSG00000174982	ENST00000312422	T	0.00023	8.99	5.21	0.923	0.19413	GPCR, rhodopsin-like superfamily (1);	0.108665	0.40818	N	0.001003	T	0.00109	0.0003	N	0.01091	-1.02	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57376	-0.7822	10	0.66056	D	0.02	.	5.8229	0.18538	0.4921:0.2533:0.0:0.2546	.	180	Q8NH73	OR4S2_HUMAN	P	180	ENSP00000310337:H180P	ENSP00000310337:H180P	H	+	2	0	OR4S2	55175494	0.000000	0.05858	0.987000	0.45799	0.978000	0.69477	-5.520000	0.00116	0.782000	0.33613	0.443000	0.29094	CAC	OR4S2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174982		0.448	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	448	0.00	0	A	NM_001004059		55418918	55418918	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	missense	265	11.96	36	SNP	0.000	C
OR52K2	119774	genome.wustl.edu	37	11	4471427	4471427	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:4471427A>C	ENST00000325719.4	+	1	903	c.858A>C	c.(856-858)ccA>ccC	p.P286P		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTCTTCCCACCCATGGTCA	0.498																																						dbGAP											0													142.0	131.0	135.0					11																	4471427		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.858A>C	11.37:g.4471427A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUY8|B2RP35|Q6IFK4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P286	ENST00000325719.4	37	c.858	CCDS31351.1	11																																																																																			OR52K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181963		0.498	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	828	0.95	8	A	NM_001005172		4471427	4471427	+1	no_errors	ENST00000325719	ensembl	human	known	69_37n	silent	744	16.22	145	SNP	0.999	C
OR52M1	119772	genome.wustl.edu	37	11	4566807	4566807	+	Silent	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:4566807C>T	ENST00000360213.1	+	1	387	c.387C>T	c.(385-387)tgC>tgT	p.C129C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCATCTGCAACCCACTAC	0.532																																						dbGAP											0													135.0	120.0	125.0					11																	4566807		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.387C>T	11.37:g.4566807C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.C129	ENST00000360213.1	37	c.387	CCDS31353.1	11																																																																																			OR52M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197790		0.532	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52M1	HGNC	protein_coding	OTTHUMT00000385847.1	212	0.00	0	C	NM_001004137		4566807	4566807	+1	no_errors	ENST00000360213	ensembl	human	known	69_37n	silent	144	38.20	89	SNP	0.001	T
OR51V1	283111	genome.wustl.edu	37	11	5221377	5221377	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:5221377T>G	ENST00000321255.1	-	1	553	c.554A>C	c.(553-555)cAc>cCc	p.H185P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	185					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAAGAGTGAGAAAGGAT	0.398																																						dbGAP											0													50.0	50.0	50.0					11																	5221377		2201	4297	6498	-	-	-	SO:0001583	missense	0			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.554A>C	11.37:g.5221377T>G	ENSP00000321729:p.His185Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H185P	ENST00000321255.1	37	c.554	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153500	0.57259	.	.	ENSG00000176742	ENST00000321255	T	0.40476	1.03	5.27	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.76343	0.3974	H	0.98818	4.34	0.32611	N	0.524616	D	0.89917	1.0	D	0.97110	1.0	D	0.85336	0.1093	10	0.87932	D	0	.	10.0404	0.42155	0.0:0.0797:0.0:0.9203	.	185	Q9H2C8	O51V1_HUMAN	P	185	ENSP00000321729:H185P	ENSP00000321729:H185P	H	-	2	0	OR51V1	5177953	0.999000	0.42202	1.000000	0.80357	0.782000	0.44232	2.344000	0.44010	1.029000	0.39812	0.533000	0.62120	CAC	OR51V1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000176742		0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	177	0.56	1	T	NM_001004760		5221377	5221377	-1	no_errors	ENST00000321255	ensembl	human	known	69_37n	missense	164	13.23	25	SNP	1.000	G
OR51B4	79339	genome.wustl.edu	37	11	5322888	5322888	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:5322888T>G	ENST00000380224.1	-	1	338	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	97					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGATTGGGTGAAACAGGCA	0.507																																						dbGAP											0													152.0	137.0	142.0					11																	5322888		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.289A>C	11.37:g.5322888T>G	ENSP00000369573:p.Thr97Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAV5|Q6NTD7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T97P	ENST00000380224.1	37	c.289	CCDS7757.1	11	.	.	.	.	.	.	.	.	.	.	T	8.162	0.789784	0.16258	.	.	ENSG00000183251	ENST00000380224	T	0.03035	4.07	4.39	-1.4	0.08968	GPCR, rhodopsin-like superfamily (1);	1.149670	0.06509	N	0.737695	T	0.06690	0.0171	M	0.80028	2.48	0.09310	N	1	P	0.48016	0.904	B	0.42555	0.391	T	0.32508	-0.9904	10	0.72032	D	0.01	.	2.5308	0.04703	0.2555:0.0806:0.1184:0.5455	.	97	Q9Y5P0	O51B4_HUMAN	P	97	ENSP00000369573:T97P	ENSP00000369573:T97P	T	-	1	0	OR51B4	5279464	0.000000	0.05858	0.020000	0.16555	0.005000	0.04900	-3.928000	0.00332	-0.057000	0.13199	-0.327000	0.08410	ACC	OR51B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183251		0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	185	0.00	0	T	NM_033179		5322888	5322888	-1	no_errors	ENST00000380224	ensembl	human	known	69_37n	missense	275	10.10	31	SNP	0.014	G
OR51Q1	390061	genome.wustl.edu	37	11	5444285	5444285	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:5444285A>C	ENST00000300778.4	+	1	945	c.855A>C	c.(853-855)gcA>gcC	p.A285A	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCTGGCACCCCCGGTGA	0.448																																						dbGAP											0													84.0	77.0	80.0					11																	5444285		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.855A>C	11.37:g.5444285A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A285	ENST00000300778.4	37	c.855	CCDS31381.1	11																																																																																			OR51Q1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000167360		0.448	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	130	0.76	1	A	NM_001004757		5444285	5444285	+1	no_errors	ENST00000300778	ensembl	human	known	69_37n	silent	144	18.18	32	SNP	0.387	C
OR52W1	120787	genome.wustl.edu	37	11	6220481	6220481	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6220481A>C	ENST00000311352.2	+	1	106	c.28A>C	c.(28-30)Acc>Ccc	p.T10P	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCAATTCCACCTTCCTACA	0.517																																						dbGAP											0													102.0	92.0	95.0					11																	6220481		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.28A>C	11.37:g.6220481A>C	ENSP00000309673:p.Thr10Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NH78	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.T10P	ENST00000311352.2	37	c.28	CCDS31407.1	11	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409339	0.42715	.	.	ENSG00000175485	ENST00000311352	T	0.54279	0.58	4.96	3.81	0.43845	.	0.000000	0.34362	U	0.004025	T	0.56572	0.1994	M	0.86178	2.8	0.34673	D	0.723852	B	0.15473	0.013	B	0.10450	0.005	T	0.65504	-0.6152	10	0.72032	D	0.01	.	11.3793	0.49748	0.8484:0.1516:0.0:0.0	.	10	Q6IF63	O52W1_HUMAN	P	10	ENSP00000309673:T10P	ENSP00000309673:T10P	T	+	1	0	OR52W1	6177057	0.718000	0.27976	0.522000	0.27862	0.494000	0.33585	1.899000	0.39818	0.883000	0.36040	0.482000	0.46254	ACC	OR52W1	-	NULL	ENSG00000175485		0.517	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52W1	HGNC	protein_coding	OTTHUMT00000383758.1	270	0.74	2	A	NM_001005178		6220481	6220481	+1	no_errors	ENST00000311352	ensembl	human	known	69_37n	missense	201	20.55	52	SNP	0.970	C
OR52W1	120787	genome.wustl.edu	37	11	6221334	6221334	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:6221334A>C	ENST00000311352.2	+	1	959	c.881A>C	c.(880-882)aAc>aCc	p.N294T	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCCCTCAACCCCCTCATC	0.527																																						dbGAP											0													211.0	217.0	215.0					11																	6221334		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.881A>C	11.37:g.6221334A>C	ENSP00000309673:p.Asn294Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NH78	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.N294T	ENST00000311352.2	37	c.881	CCDS31407.1	11	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050029	0.75846	.	.	ENSG00000175485	ENST00000311352	T	0.59224	0.28	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000874	D	0.84352	0.5453	H	0.97874	4.095	0.48511	D	0.999661	D	0.89917	1.0	D	0.77004	0.989	D	0.90143	0.4215	10	0.87932	D	0	.	14.3679	0.66817	1.0:0.0:0.0:0.0	.	294	Q6IF63	O52W1_HUMAN	T	294	ENSP00000309673:N294T	ENSP00000309673:N294T	N	+	2	0	OR52W1	6177910	1.000000	0.71417	0.976000	0.42696	0.923000	0.55619	6.857000	0.75455	2.036000	0.60181	0.460000	0.39030	AAC	OR52W1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000175485		0.527	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52W1	HGNC	protein_coding	OTTHUMT00000383758.1	554	0.54	3	A	NM_001005178		6221334	6221334	+1	no_errors	ENST00000311352	ensembl	human	known	69_37n	missense	446	15.44	82	SNP	1.000	C
OR4S2	219431	genome.wustl.edu	37	11	55419088	55419088	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55419088A>C	ENST00000312422.2	+	1	709	c.709A>C	c.(709-711)Acc>Ccc	p.T237P		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCCCTCTCCACCTGTGGCTC	0.498																																						dbGAP											0													168.0	137.0	148.0					11																	55419088		2178	4029	6207	-	-	-	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.709A>C	11.37:g.55419088A>C	ENSP00000310337:p.Thr237Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF72	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T237P	ENST00000312422.2	37	c.709	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504853	0.85176	.	.	ENSG00000174982	ENST00000312422	T	0.42131	0.98	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.79167	0.4400	H	0.99357	4.53	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.87818	0.2636	10	0.87932	D	0	.	14.1617	0.65450	1.0:0.0:0.0:0.0	.	237	Q8NH73	OR4S2_HUMAN	P	237	ENSP00000310337:T237P	ENSP00000310337:T237P	T	+	1	0	OR4S2	55175664	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.007000	0.70731	2.028000	0.59812	0.443000	0.29094	ACC	OR4S2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174982		0.498	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	349	0.00	0	A	NM_001004059		55419088	55419088	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	missense	203	11.74	27	SNP	1.000	C
OR5AS1	219447	genome.wustl.edu	37	11	55798440	55798440	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55798440A>C	ENST00000313555.1	+	1	546	c.546A>C	c.(544-546)ccA>ccC	p.P182P		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTGATATCCCACCTCTTCTGG	0.423																																						dbGAP											0													284.0	280.0	281.0					11																	55798440		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.546A>C	11.37:g.55798440A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P182	ENST00000313555.1	37	c.546	CCDS31516.1	11																																																																																			OR5AS1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181785		0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	405	0.49	2	A	NM_001001921		55798440	55798440	+1	no_errors	ENST00000313555	ensembl	human	known	69_37n	silent	212	15.20	38	SNP	0.008	C
OR5AS1	219447	genome.wustl.edu	37	11	55798639	55798639	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55798639A>C	ENST00000313555.1	+	1	745	c.745A>C	c.(745-747)Acc>Ccc	p.T249P		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CATAGCAGTCACCTTATTCTA	0.443																																						dbGAP											0													141.0	118.0	126.0					11																	55798639		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.745A>C	11.37:g.55798639A>C	ENSP00000324111:p.Thr249Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T249P	ENST00000313555.1	37	c.745	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	A	10.05	1.245412	0.22796	.	.	ENSG00000181785	ENST00000313555	T	0.39997	1.05	5.14	-1.9	0.07665	GPCR, rhodopsin-like superfamily (1);	0.219653	0.23051	U	0.052495	T	0.44307	0.1287	M	0.87328	2.875	0.09310	N	1	P	0.39157	0.662	B	0.42798	0.398	T	0.43814	-0.9368	10	0.72032	D	0.01	.	3.5181	0.07732	0.4023:0.0:0.2346:0.3631	.	249	Q8N127	O5AS1_HUMAN	P	249	ENSP00000324111:T249P	ENSP00000324111:T249P	T	+	1	0	OR5AS1	55555215	0.000000	0.05858	0.022000	0.16811	0.034000	0.12701	-0.944000	0.03913	-0.002000	0.14469	0.472000	0.43445	ACC	OR5AS1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181785		0.443	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	272	0.36	1	A	NM_001001921		55798639	55798639	+1	no_errors	ENST00000313555	ensembl	human	known	69_37n	missense	129	15.03	23	SNP	0.049	C
OR5AR1	219493	genome.wustl.edu	37	11	56431561	56431561	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56431561A>C	ENST00000302969.2	+	1	424	c.400A>C	c.(400-402)Acc>Ccc	p.T134P		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCACTATAGCACCTTCATGTC	0.517																																						dbGAP											0													199.0	183.0	188.0					11																	56431561		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.400A>C	11.37:g.56431561A>C	ENSP00000302639:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T134P	ENST00000302969.2	37	c.400	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574566	0.28092	.	.	ENSG00000172459	ENST00000302969	T	0.00560	6.6	4.94	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.633514	0.14022	N	0.346757	T	0.00906	0.0030	M	0.87328	2.875	0.09310	N	1	B	0.27380	0.177	B	0.28553	0.091	T	0.42865	-0.9426	10	0.72032	D	0.01	.	4.2992	0.10916	0.687:0.0:0.1645:0.1485	.	134	Q8NGP9	O5AR1_HUMAN	P	134	ENSP00000302639:T134P	ENSP00000302639:T134P	T	+	1	0	OR5AR1	56188137	0.000000	0.05858	0.429000	0.26710	0.516000	0.34256	-0.101000	0.10973	0.915000	0.36847	0.467000	0.42956	ACC	OR5AR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000172459		0.517	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	359	0.82	3	A	NM_001004730		56431561	56431561	+1	no_errors	ENST00000302969	ensembl	human	known	69_37n	missense	241	14.49	41	SNP	0.005	C
OR5AR1	219493	genome.wustl.edu	37	11	56431789	56431789	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56431789A>C	ENST00000302969.2	+	1	652	c.628A>C	c.(628-630)Acc>Ccc	p.T210P		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGAATTCAGCACCATCCTCAT	0.483																																						dbGAP											0													184.0	155.0	165.0					11																	56431789		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.628A>C	11.37:g.56431789A>C	ENSP00000302639:p.Thr210Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T210P	ENST00000302969.2	37	c.628	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	13.33	2.203736	0.38905	.	.	ENSG00000172459	ENST00000302969	T	0.21932	1.98	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000153	T	0.24392	0.0591	N	0.21324	0.655	0.29378	N	0.863502	D	0.59357	0.985	P	0.57057	0.812	T	0.04307	-1.0961	10	0.56958	D	0.05	.	9.6224	0.39730	0.8333:0.0:0.0:0.1666	.	210	Q8NGP9	O5AR1_HUMAN	P	210	ENSP00000302639:T210P	ENSP00000302639:T210P	T	+	1	0	OR5AR1	56188365	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.190000	0.09615	2.064000	0.61679	0.467000	0.42956	ACC	OR5AR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172459		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	274	0.00	0	A	NM_001004730		56431789	56431789	+1	no_errors	ENST00000302969	ensembl	human	known	69_37n	missense	163	19.21	39	SNP	1.000	C
OR5AR1	219493	genome.wustl.edu	37	11	56431879	56431879	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56431879A>C	ENST00000302969.2	+	1	742	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGCTTTCTCCACCTGCGGGTC	0.488																																						dbGAP											0													154.0	131.0	139.0					11																	56431879		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.718A>C	11.37:g.56431879A>C	ENSP00000302639:p.Thr240Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T240P	ENST00000302969.2	37	c.718	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703568	0.68501	.	.	ENSG00000172459	ENST00000302969	T	0.42131	0.98	4.91	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000153	T	0.74520	0.3727	H	0.98295	4.195	0.40938	D	0.984446	D	0.71674	0.998	D	0.70935	0.971	T	0.82820	-0.0268	10	0.87932	D	0	.	10.2199	0.43190	0.9191:0.0:0.0809:0.0	.	240	Q8NGP9	O5AR1_HUMAN	P	240	ENSP00000302639:T240P	ENSP00000302639:T240P	T	+	1	0	OR5AR1	56188455	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.794000	0.75135	2.064000	0.61679	0.467000	0.42956	ACC	OR5AR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000172459		0.488	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	204	0.49	1	A	NM_001004730		56431879	56431879	+1	no_errors	ENST00000302969	ensembl	human	known	69_37n	missense	117	19.31	28	SNP	1.000	C
OR5AN1	390195	genome.wustl.edu	37	11	59132345	59132345	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:59132345A>C	ENST00000313940.2	+	1	461	c.414A>C	c.(412-414)tcA>tcC	p.S138S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCATCATGTCACCCACCCTCT	0.478																																						dbGAP											0													226.0	197.0	207.0					11																	59132345		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.414A>C	11.37:g.59132345A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIS2|Q6IEV4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S138	ENST00000313940.2	37	c.414	CCDS31559.1	11																																																																																			OR5AN1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000176495		0.478	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	270	0.73	2	A	NM_001004729		59132345	59132345	+1	no_errors	ENST00000313940	ensembl	human	known	69_37n	silent	199	13.36	31	SNP	0.000	C
OR5C1	392391	genome.wustl.edu	37	9	125551610	125551610	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125551610A>C	ENST00000373680.2	+	1	461	c.399A>C	c.(397-399)ccA>ccC	p.P133P		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TCAGAAACCCACTTCTCTATA	0.557																																						dbGAP											0													130.0	125.0	127.0					9																	125551610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.399A>C	9.37:g.125551610A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN54|B9EGT0|Q96RC4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P133	ENST00000373680.2	37	c.399	CCDS35131.1	9																																																																																			OR5C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000148215		0.557	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5C1	HGNC	protein_coding	OTTHUMT00000053953.1	161	0.00	0	A			125551610	125551610	+1	no_errors	ENST00000373680	ensembl	human	known	69_37n	silent	167	11.98	23	SNP	0.315	C
OR5D16	390144	genome.wustl.edu	37	11	55606427	55606427	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55606427A>C	ENST00000378396.1	+	1	200	c.200A>C	c.(199-201)cAc>cCc	p.H67P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCCTCAACCACCTCTCCTTT	0.433																																						dbGAP											0													190.0	186.0	187.0					11																	55606427		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.200A>C	11.37:g.55606427A>C	ENSP00000367649:p.His67Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H67P	ENST00000378396.1	37	c.200	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	17.50	3.405461	0.62288	.	.	ENSG00000205029	ENST00000378396	T	0.12569	2.67	4.05	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43612	0.1255	H	0.94734	3.575	0.28106	N	0.9312	D	0.53885	0.963	D	0.64595	0.927	T	0.39313	-0.9620	9	0.72032	D	0.01	-25.1279	8.5381	0.33375	0.9041:0.0:0.0959:0.0	.	67	Q8NGK9	OR5DG_HUMAN	P	67	ENSP00000367649:H67P	ENSP00000367649:H67P	H	+	2	0	OR5D16	55363003	0.031000	0.19500	0.689000	0.30133	0.977000	0.68977	3.098000	0.50259	0.574000	0.29417	0.433000	0.28618	CAC	OR5D16	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	526	0.38	2	A	NM_001005496		55606427	55606427	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	missense	325	15.10	58	SNP	0.971	C
OR5D16	390144	genome.wustl.edu	37	11	55606978	55606978	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55606978A>C	ENST00000378396.1	+	1	751	c.751A>C	c.(751-753)Acc>Ccc	p.T251P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GACTGCCATCACCATCTTCCA	0.512																																						dbGAP											0													140.0	121.0	127.0					11																	55606978		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.751A>C	11.37:g.55606978A>C	ENSP00000367649:p.Thr251Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T251P	ENST00000378396.1	37	c.751	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	13.83	2.353569	0.41700	.	.	ENSG00000205029	ENST00000378396	T	0.39997	1.05	4.53	0.728	0.18260	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.65059	0.2655	M	0.92555	3.32	0.09310	N	1	D	0.63880	0.993	D	0.73708	0.981	T	0.52366	-0.8585	9	0.72032	D	0.01	-17.8235	3.44	0.07460	0.4348:0.0:0.1774:0.3878	.	251	Q8NGK9	OR5DG_HUMAN	P	251	ENSP00000367649:T251P	ENSP00000367649:T251P	T	+	1	0	OR5D16	55363554	0.786000	0.28738	0.004000	0.12327	0.738000	0.42128	0.922000	0.28734	0.208000	0.20626	0.439000	0.28862	ACC	OR5D16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.512	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	249	0.40	1	A	NM_001005496		55606978	55606978	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	missense	168	16.26	33	SNP	0.000	C
OR5D18	219438	genome.wustl.edu	37	11	55587718	55587718	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55587718A>C	ENST00000333976.4	+	1	633	c.613A>C	c.(613-615)Acc>Ccc	p.T205P		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTTCTTGCCACCTTTAATGA	0.438																																						dbGAP											0													191.0	163.0	172.0					11																	55587718		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.613A>C	11.37:g.55587718A>C	ENSP00000335025:p.Thr205Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T205P	ENST00000333976.4	37	c.613	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	10.90	1.480129	0.26598	.	.	ENSG00000186119	ENST00000333976	T	0.38560	1.13	4.64	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.56601	0.1996	M	0.71036	2.16	0.09310	N	1	D	0.56968	0.978	D	0.67725	0.953	T	0.45600	-0.9250	10	0.72032	D	0.01	-19.3472	7.0913	0.25285	0.8355:0.0:0.1645:0.0	.	205	Q8NGL1	OR5DI_HUMAN	P	205	ENSP00000335025:T205P	ENSP00000335025:T205P	T	+	1	0	OR5D18	55344294	0.000000	0.05858	0.838000	0.33150	0.314000	0.28054	-0.145000	0.10265	1.905000	0.55150	0.462000	0.41574	ACC	OR5D18	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000186119		0.438	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	308	0.32	1	A	NM_001001952		55587718	55587718	+1	no_errors	ENST00000333976	ensembl	human	known	69_37n	missense	173	10.26	20	SNP	0.002	C
OR5D16	390144	genome.wustl.edu	37	11	55606993	55606993	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55606993A>C	ENST00000378396.1	+	1	766	c.766A>C	c.(766-768)Acc>Ccc	p.T256P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTCCATGGCACCATCCTCTT	0.527																																						dbGAP											0													125.0	110.0	115.0					11																	55606993		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.766A>C	11.37:g.55606993A>C	ENSP00000367649:p.Thr256Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T256P	ENST00000378396.1	37	c.766	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	13.68	2.310070	0.40895	.	.	ENSG00000205029	ENST00000378396	T	0.00231	8.49	4.22	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	L	0.49778	1.585	0.09310	N	0.999997	P	0.40794	0.729	P	0.56474	0.799	T	0.45411	-0.9263	9	0.87932	D	0	-47.037	6.1986	0.20563	0.6755:0.1653:0.0:0.1592	.	256	Q8NGK9	OR5DG_HUMAN	P	256	ENSP00000367649:T256P	ENSP00000367649:T256P	T	+	1	0	OR5D16	55363569	0.001000	0.12720	0.022000	0.16811	0.721000	0.41392	0.352000	0.20113	0.584000	0.29591	0.439000	0.28862	ACC	OR5D16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.527	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	232	0.00	0	A	NM_001005496		55606993	55606993	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	missense	151	16.39	30	SNP	0.283	C
OR5J2	282775	genome.wustl.edu	37	11	55944811	55944811	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55944811A>C	ENST00000312298.1	+	1	718	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGCCTTCTCCACCTGTGCCTC	0.463																																						dbGAP											0													140.0	123.0	129.0					11																	55944811		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.718A>C	11.37:g.55944811A>C	ENSP00000310788:p.Thr240Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.T240P	ENST00000312298.1	37	c.718	CCDS31522.1	11	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342931	0.61073	.	.	ENSG00000174957	ENST00000312298	T	0.42131	0.98	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.75576	0.3868	H	0.97732	4.065	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.84551	0.0644	10	0.87932	D	0	.	13.3777	0.60750	1.0:0.0:0.0:0.0	.	240	Q8NH18	OR5J2_HUMAN	P	240	ENSP00000310788:T240P	ENSP00000310788:T240P	T	+	1	0	OR5J2	55701387	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.556000	0.82233	1.724000	0.51502	0.482000	0.46254	ACC	OR5J2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174957		0.463	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	HGNC	protein_coding	OTTHUMT00000391544.1	161	0.00	0	A	NM_001005492		55944811	55944811	+1	no_errors	ENST00000312298	ensembl	human	known	69_37n	missense	98	17.65	21	SNP	1.000	C
OR5K4	403278	genome.wustl.edu	37	3	98073080	98073080	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:98073080A>C	ENST00000354924.2	+	1	383	c.383A>C	c.(382-384)cAc>cCc	p.H128P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCATATGCCACCCACTGCAG	0.483																																						dbGAP											0													156.0	153.0	154.0					3																	98073080		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.383A>C	3.37:g.98073080A>C	ENSP00000347003:p.His128Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H128P	ENST00000354924.2	37	c.383	CCDS33802.1	3	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459843	0.26248	.	.	ENSG00000196098	ENST00000354924	T	0.00388	7.59	4.77	-3.26	0.05064	GPCR, rhodopsin-like superfamily (1);	0.794793	0.10124	U	0.713020	T	0.00412	0.0013	M	0.85099	2.735	0.09310	N	1	B	0.23377	0.084	B	0.27887	0.084	T	0.22730	-1.0208	10	0.72032	D	0.01	0.0178	7.0551	0.25095	0.6549:0.0:0.2063:0.1388	.	128	A6NMS3	OR5K4_HUMAN	P	128	ENSP00000347003:H128P	ENSP00000347003:H128P	H	+	2	0	OR5K4	99555770	0.000000	0.05858	0.001000	0.08648	0.893000	0.52053	0.038000	0.13862	-0.547000	0.06207	-0.237000	0.12165	CAC	OR5K4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196098		0.483	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	HGNC	protein_coding	OTTHUMT00000359114.1	500	0.40	2	A			98073080	98073080	+1	no_errors	ENST00000354924	ensembl	human	known	69_37n	missense	339	14.39	57	SNP	0.000	C
OR5K3	403277	genome.wustl.edu	37	3	98109909	98109909	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:98109909A>C	ENST00000383695.1	+	1	400	c.400A>C	c.(400-402)Acc>Ccc	p.T134P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCAGTACCACACCATGATGTC	0.468																																						dbGAP											0													168.0	155.0	159.0					3																	98109909		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.400A>C	3.37:g.98109909A>C	ENSP00000373194:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T134P	ENST00000383695.1	37	c.400	CCDS33803.1	3	.	.	.	.	.	.	.	.	.	.	A	11.28	1.591449	0.28357	.	.	ENSG00000206536	ENST00000383695	T	0.00560	6.6	5.15	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.472642	0.17858	N	0.159635	T	0.01061	0.0035	M	0.91406	3.205	0.09310	N	1	B	0.17268	0.021	B	0.20577	0.03	T	0.36261	-0.9755	10	0.72032	D	0.01	-22.3592	5.9827	0.19415	0.8135:0.0:0.1865:0.0	.	134	A6NET4	OR5K3_HUMAN	P	134	ENSP00000373194:T134P	ENSP00000373194:T134P	T	+	1	0	OR5K3	99592599	0.000000	0.05858	0.900000	0.35374	0.839000	0.47603	0.224000	0.17738	2.043000	0.60533	0.491000	0.48974	ACC	OR5K3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000206536		0.468	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	424	0.47	2	A			98109909	98109909	+1	no_errors	ENST00000383695	ensembl	human	known	69_37n	missense	305	15.04	54	SNP	0.076	C
OR5L1	219437	genome.wustl.edu	37	11	55579660	55579660	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55579660A>C	ENST00000333973.2	+	1	807	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T240S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGCCTTCTCCACCTGTGCTTC	0.502																																						dbGAP											1	Substitution - Missense(1)	lung(1)											185.0	151.0	163.0					11																	55579660		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.718A>C	11.37:g.55579660A>C	ENSP00000335529:p.Thr240Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T240P	ENST00000333973.2	37	c.718	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	a	18.11	3.550604	0.65311	.	.	ENSG00000186117	ENST00000333973	T	0.42131	0.98	4.12	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.73001	0.3531	H	0.97491	4.015	0.41598	D	0.988839	D	0.89917	1.0	D	0.97110	1.0	T	0.76217	-0.3040	10	0.87932	D	0	-66.1415	8.7091	0.34374	0.9048:0.0:0.0952:0.0	.	240	Q8NGL2	OR5L1_HUMAN	P	240	ENSP00000335529:T240P	ENSP00000335529:T240P	T	+	1	0	OR5L1	55336236	1.000000	0.71417	0.986000	0.45419	0.821000	0.46438	6.967000	0.76079	0.454000	0.26884	0.352000	0.21897	ACC	OR5L1	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186117		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	182	0.54	1	A	NM_001004738		55579660	55579660	+1	no_errors	ENST00000333973	ensembl	human	known	69_37n	missense	108	20.44	28	SNP	0.999	C
OR5L1	219437	genome.wustl.edu	37	11	55579673	55579673	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55579673A>C	ENST00000333973.2	+	1	820	c.731A>C	c.(730-732)cAc>cCc	p.H244P		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTGCTTCCCACCTCACAGCT	0.517																																						dbGAP											0													173.0	143.0	153.0					11																	55579673		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.731A>C	11.37:g.55579673A>C	ENSP00000335529:p.His244Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H244P	ENST00000333973.2	37	c.731	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	a	17.58	3.425421	0.62733	.	.	ENSG00000186117	ENST00000333973	T	0.00318	8.12	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.01124	0.0037	H	0.97491	4.015	0.44098	D	0.996861	D	0.76494	0.999	D	0.79108	0.992	T	0.33214	-0.9877	10	0.87932	D	0	-23.5768	12.1089	0.53827	1.0:0.0:0.0:0.0	.	244	Q8NGL2	OR5L1_HUMAN	P	244	ENSP00000335529:H244P	ENSP00000335529:H244P	H	+	2	0	OR5L1	55336249	1.000000	0.71417	0.921000	0.36526	0.694000	0.40290	8.752000	0.91632	1.529000	0.49120	0.352000	0.21897	CAC	OR5L1	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186117		0.517	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	177	0.00	0	A	NM_001004738		55579673	55579673	+1	no_errors	ENST00000333973	ensembl	human	known	69_37n	missense	99	23.26	30	SNP	0.999	C
OR5L2	26338	genome.wustl.edu	37	11	55594863	55594863	+	Missense_Mutation	SNP	A	A	C	rs141725184		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55594863A>C	ENST00000378397.1	+	1	169	c.169A>C	c.(169-171)Acc>Ccc	p.T57P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCGGCTCCACACCCCCGTGTA	0.468										HNSCC(27;0.073)																												dbGAP											0													259.0	236.0	243.0					11																	55594863		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.169A>C	11.37:g.55594863A>C	ENSP00000367650:p.Thr57Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T57P	ENST00000378397.1	37	c.169	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	10.77	1.444799	0.25987	.	.	ENSG00000205030	ENST00000378397	T	0.00372	7.73	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000111	T	0.01222	0.0040	H	0.94222	3.51	0.09310	N	1	D	0.71674	0.998	D	0.66497	0.944	T	0.26744	-1.0094	10	0.87932	D	0	-41.6494	8.8673	0.35294	0.7413:0.0:0.0:0.2587	.	57	Q8NGL0	OR5L2_HUMAN	P	57	ENSP00000367650:T57P	ENSP00000367650:T57P	T	+	1	0	OR5L2	55351439	0.000000	0.05858	0.614000	0.29051	0.022000	0.10575	1.008000	0.29872	2.173000	0.68751	0.509000	0.49947	ACC	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205030		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	597	0.33	2	A	NM_001004739		55594863	55594863	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	365	21.51	100	SNP	0.018	C
OR5L2	26338	genome.wustl.edu	37	11	55595347	55595347	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55595347A>C	ENST00000378397.1	+	1	653	c.653A>C	c.(652-654)tAc>tCc	p.Y218S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCACCTCCTACCTGCTAATT	0.498										HNSCC(27;0.073)																												dbGAP											0													211.0	174.0	187.0					11																	55595347		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.653A>C	11.37:g.55595347A>C	ENSP00000367650:p.Tyr218Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y218S	ENST00000378397.1	37	c.653	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	14.52	2.560875	0.45590	.	.	ENSG00000205030	ENST00000378397	T	0.00518	6.86	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000227	T	0.02807	0.0084	H	0.97540	4.025	0.39291	D	0.964734	P	0.44195	0.828	P	0.54924	0.764	T	0.00369	-1.1784	10	0.87932	D	0	-40.2615	14.3209	0.66487	1.0:0.0:0.0:0.0	.	218	Q8NGL0	OR5L2_HUMAN	S	218	ENSP00000367650:Y218S	ENSP00000367650:Y218S	Y	+	2	0	OR5L2	55351923	0.998000	0.40836	0.954000	0.39281	0.097000	0.18754	4.907000	0.63300	2.115000	0.64714	0.514000	0.50259	TAC	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000205030		0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	293	1.00	3	A	NM_001004739		55595347	55595347	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	227	11.63	30	SNP	0.993	C
OR5L2	26338	genome.wustl.edu	37	11	55595412	55595412	+	Missense_Mutation	SNP	A	A	C	rs200149092		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55595412A>C	ENST00000378397.1	+	1	718	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGCTTTCTCCACCTGTGCCTC	0.483										HNSCC(27;0.073)																												dbGAP											0													170.0	146.0	154.0					11																	55595412		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.718A>C	11.37:g.55595412A>C	ENSP00000367650:p.Thr240Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T240P	ENST00000378397.1	37	c.718	CCDS31511.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	15.58	2.874322	0.51695	.	.	ENSG00000205030	ENST00000378397	T	0.42131	0.98	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.76435	0.3987	H	0.97491	4.015	0.47407	D	0.999415	D	0.89917	1.0	D	0.97110	1.0	D	0.85170	0.0997	10	0.87932	D	0	-66.1415	14.3209	0.66487	1.0:0.0:0.0:0.0	.	240	Q8NGL0	OR5L2_HUMAN	P	240	ENSP00000367650:T240P	ENSP00000367650:T240P	T	+	1	0	OR5L2	55351988	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	8.934000	0.92915	2.115000	0.64714	0.514000	0.50259	ACC	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000205030		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	277	0.00	0	A	NM_001004739		55595412	55595412	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	175	25.42	60	SNP	1.000	C
OR5L2	26338	genome.wustl.edu	37	11	55595425	55595425	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55595425A>C	ENST00000378397.1	+	1	731	c.731A>C	c.(730-732)cAc>cCc	p.H244P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTGCCTCCCACCTCACAGCC	0.498										HNSCC(27;0.073)																												dbGAP											1	Substitution - Missense(1)	lung(1)											155.0	136.0	142.0					11																	55595425		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.731A>C	11.37:g.55595425A>C	ENSP00000367650:p.His244Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H244P	ENST00000378397.1	37	c.731	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	15.00	2.704175	0.48412	.	.	ENSG00000205030	ENST00000378397	T	0.00318	8.12	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.01222	0.0040	H	0.97491	4.015	0.46927	D	0.999254	D	0.76494	0.999	D	0.79108	0.992	T	0.28776	-1.0033	10	0.87932	D	0	-23.5768	14.3209	0.66487	1.0:0.0:0.0:0.0	.	244	Q8NGL0	OR5L2_HUMAN	P	244	ENSP00000367650:H244P	ENSP00000367650:H244P	H	+	2	0	OR5L2	55352001	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	7.111000	0.77077	2.115000	0.64714	0.514000	0.50259	CAC	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000205030		0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	275	0.36	1	A	NM_001004739		55595425	55595425	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	183	21.94	52	SNP	1.000	C
OR5P2	120065	genome.wustl.edu	37	11	7817784	7817784	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:7817784T>G	ENST00000329434.2	-	1	736	c.706A>C	c.(706-708)Acc>Ccc	p.T236P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGTGCAGGTGGAGAAGGCC	0.493																																						dbGAP											0													123.0	123.0	123.0					11																	7817784		2107	4292	6399	-	-	-	SO:0001583	missense	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.706A>C	11.37:g.7817784T>G	ENSP00000331823:p.Thr236Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIS8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T236P	ENST00000329434.2	37	c.706	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981748	0.74474	.	.	ENSG00000183303	ENST00000329434	T	0.42131	0.98	5.5	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.71771	0.3379	H	0.97732	4.065	0.43803	D	0.996354	P	0.51933	0.949	P	0.60345	0.873	T	0.78889	-0.2026	10	0.87932	D	0	-82.0184	10.1922	0.43032	0.1487:0.0:0.0:0.8513	.	236	Q8WZ92	OR5P2_HUMAN	P	236	ENSP00000331823:T236P	ENSP00000331823:T236P	T	-	1	0	OR5P2	7774360	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.917000	0.69989	1.085000	0.41206	0.454000	0.30748	ACC	OR5P2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183303		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	197	0.00	0	T	NM_153444		7817784	7817784	-1	no_errors	ENST00000329434	ensembl	human	known	69_37n	missense	201	12.50	29	SNP	1.000	G
OR5T1	390155	genome.wustl.edu	37	11	56043561	56043561	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56043561A>C	ENST00000313033.2	+	1	533	c.447A>C	c.(445-447)tcA>tcC	p.S149S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAGCATGTCACCCAGAGTCT	0.443																																						dbGAP											0													256.0	219.0	232.0					11																	56043561		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.447A>C	11.37:g.56043561A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S149	ENST00000313033.2	37	c.447	CCDS31525.1	11																																																																																			OR5T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181698		0.443	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	373	0.00	0	A	NM_001004745		56043561	56043561	+1	no_errors	ENST00000313033	ensembl	human	known	69_37n	silent	307	10.69	37	SNP	0.101	C
OR5R1	219479	genome.wustl.edu	37	11	56184991	56184991	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56184991T>G	ENST00000312253.1	-	1	717	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGCCACAGGTGGAAATGGCT	0.448																																						dbGAP											0													154.0	143.0	146.0					11																	56184991		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.718A>C	11.37:g.56184991T>G	ENSP00000308595:p.Thr240Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T240P	ENST00000312253.1	37	c.718	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406636	0.62399	.	.	ENSG00000174942	ENST00000312253	T	0.42131	0.98	5.62	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33670	U	0.004665	T	0.76328	0.3972	H	0.98295	4.195	0.36351	D	0.860075	D	0.89917	1.0	D	0.87578	0.998	D	0.85906	0.1437	10	0.87932	D	0	-21.1006	11.0855	0.48084	0.0:0.0735:0.0:0.9265	.	240	Q8NH85	OR5R1_HUMAN	P	240	ENSP00000308595:T240P	ENSP00000308595:T240P	T	-	1	0	OR5R1	55941567	1.000000	0.71417	0.627000	0.29227	0.535000	0.34838	7.782000	0.85680	0.958000	0.37956	0.523000	0.50628	ACC	OR5R1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174942		0.448	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	234	0.00	0	T	NM_001004744		56184991	56184991	-1	no_errors	ENST00000312253	ensembl	human	known	69_37n	missense	111	14.50	19	SNP	0.997	G
OR5M11	219487	genome.wustl.edu	37	11	56309992	56309992	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56309992T>G	ENST00000528616.2	-	1	765	c.742A>C	c.(742-744)Acc>Ccc	p.T248P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAAAACAGGGTGACAGCCATC	0.448																																						dbGAP											0													113.0	113.0	113.0					11																	56309992		1984	4181	6165	-	-	-	SO:0001583	missense	0			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.742A>C	11.37:g.56309992T>G	ENSP00000432417:p.Thr248Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL5|B2RNL7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T248P	ENST00000528616.2	37	c.742	CCDS53629.1	11	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784361	0.49997	.	.	ENSG00000255223	ENST00000528616	T	0.39997	1.05	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66356	0.2781	M	0.88377	2.95	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.60667	-0.7218	9	0.72032	D	0.01	.	8.0106	0.30351	0.1813:0.0:0.0:0.8187	.	248	Q96RB7	OR5MB_HUMAN	P	248	ENSP00000432417:T248P	ENSP00000432417:T248P	T	-	1	0	OR5M11	56066568	0.000000	0.05858	0.804000	0.32291	0.865000	0.49528	-0.197000	0.09518	2.076000	0.62316	0.514000	0.50259	ACC	OR5M11	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255223		0.448	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	220	0.45	1	T	NM_001005245		56309992	56309992	-1	no_errors	ENST00000528616	ensembl	human	known	69_37n	missense	136	15.00	24	SNP	0.023	G
OR5M1	390168	genome.wustl.edu	37	11	56380818	56380818	+	Missense_Mutation	SNP	T	T	G	rs370779678		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56380818T>G	ENST00000526538.1	-	1	160	c.161A>C	c.(160-162)cAc>cCc	p.H54P		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	54						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTTTGCAGGTGGGAATTGGT	0.463																																						dbGAP											0													182.0	179.0	180.0					11																	56380818		1987	4170	6157	-	-	-	SO:0001583	missense	0			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.161A>C	11.37:g.56380818T>G	ENSP00000435416:p.His54Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H54P	ENST00000526538.1	37	c.161	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298162	0.23650	.	.	ENSG00000255012	ENST00000526538	T	0.00816	5.66	3.71	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.660861	0.12683	N	0.447822	T	0.01489	0.0048	M	0.67700	2.07	0.09310	N	1	B	0.31435	0.323	B	0.33339	0.162	T	0.44620	-0.9316	10	0.62326	D	0.03	-11.7151	3.7995	0.08753	0.0:0.5347:0.0:0.4653	.	54	Q8NGP8	OR5M1_HUMAN	P	54	ENSP00000435416:H54P	ENSP00000435416:H54P	H	-	2	0	OR5M1	56137394	0.000000	0.05858	0.433000	0.26760	0.865000	0.49528	-0.010000	0.12743	0.501000	0.28013	0.232000	0.17820	CAC	OR5M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255012		0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	229	0.00	0	T	NM_001004740		56380818	56380818	-1	no_errors	ENST00000526538	ensembl	human	known	69_37n	missense	219	12.40	31	SNP	0.025	G
OR6C75	390323	genome.wustl.edu	37	12	55759033	55759033	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:55759033A>C	ENST00000343399.3	+	1	139	c.139A>C	c.(139-141)Acc>Ccc	p.T47P		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TATCACCCTCACCCTTTCAGA	0.438																																						dbGAP											0													161.0	159.0	160.0					12																	55759033		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.139A>C	12.37:g.55759033A>C	ENSP00000368987:p.Thr47Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T47P	ENST00000343399.3	37	c.139	CCDS31820.1	12	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510678	0.27036	.	.	ENSG00000187857	ENST00000343399	T	0.03035	4.07	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000531	T	0.15782	0.0380	M	0.83603	2.65	0.28663	N	0.906015	D	0.60575	0.988	P	0.62649	0.905	T	0.04796	-1.0926	10	0.87932	D	0	.	9.3391	0.38069	0.9165:0.0:0.0835:0.0	.	47	A6NL08	O6C75_HUMAN	P	47	ENSP00000368987:T47P	ENSP00000368987:T47P	T	+	1	0	OR6C75	54045300	0.033000	0.19621	0.967000	0.41034	0.030000	0.12068	2.150000	0.42254	2.210000	0.71456	0.529000	0.55759	ACC	OR6C75	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000187857		0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1	376	0.00	0	A			55759033	55759033	+1	no_errors	ENST00000343399	ensembl	human	known	69_37n	missense	310	17.11	65	SNP	0.907	C
OR6C2	341416	genome.wustl.edu	37	12	55846619	55846619	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:55846619A>C	ENST00000322678.1	+	1	622	c.622A>C	c.(622-624)Acc>Ccc	p.T208P	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	208					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ACTCATTATCACCCTAGTTTG	0.398																																						dbGAP											0													177.0	167.0	171.0					12																	55846619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.622A>C	12.37:g.55846619A>C	ENSP00000323606:p.Thr208Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T208P	ENST00000322678.1	37	c.622	CCDS31824.1	12	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934577	0.52866	.	.	ENSG00000179695	ENST00000322678	T	0.21932	1.98	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.32010	0.0815	L	0.28649	0.875	0.09310	N	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.10823	-1.0613	10	0.87932	D	0	.	9.7651	0.40557	0.846:0.0:0.0:0.154	.	208	Q9NZP2	OR6C2_HUMAN	P	208	ENSP00000323606:T208P	ENSP00000323606:T208P	T	+	1	0	OR6C2	54132886	0.000000	0.05858	0.103000	0.21229	0.008000	0.06430	0.174000	0.16743	2.275000	0.75901	0.496000	0.49642	ACC	OR6C2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000179695		0.398	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	HGNC	protein_coding	OTTHUMT00000406676.1	254	0.00	0	A	NM_054105		55846619	55846619	+1	no_errors	ENST00000322678	ensembl	human	known	69_37n	missense	229	13.48	36	SNP	0.191	C
OR6K6	128371	genome.wustl.edu	37	1	158725182	158725182	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:158725182A>C	ENST00000368144.2	+	1	673	c.577A>C	c.(577-579)Acc>Ccc	p.T193P		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATGGATTTCCACCTTGCCTTT	0.473																																						dbGAP											0													137.0	113.0	121.0					1																	158725182		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.577A>C	1.37:g.158725182A>C	ENSP00000357126:p.Thr193Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T193P	ENST00000368144.2	37	c.577	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.608720	0.28623	.	.	ENSG00000180433	ENST00000368144	T	0.00044	8.83	5.39	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.151022	0.30820	N	0.008811	T	0.00144	0.0004	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	D	0.71656	0.974	T	0.19353	-1.0308	10	0.54805	T	0.06	-13.4538	9.3643	0.38215	0.9157:0.0:0.0843:0.0	.	193	Q8NGW6	OR6K6_HUMAN	P	193	ENSP00000357126:T193P	ENSP00000357126:T193P	T	+	1	0	OR6K6	156991806	0.000000	0.05858	0.191000	0.23289	0.514000	0.34195	0.063000	0.14410	1.061000	0.40601	0.533000	0.62120	ACC	OR6K6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180433		0.473	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	120	0.00	0	A	NM_001005184		158725182	158725182	+1	no_errors	ENST00000368144	ensembl	human	known	69_37n	missense	187	18.26	42	SNP	0.005	C
OR6M1	390261	genome.wustl.edu	37	11	123676376	123676376	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123676376T>G	ENST00000309154.2	-	1	719	c.682A>C	c.(682-684)Acc>Ccc	p.T228P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	228						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)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CGGCCCTGGGTGGAGGGGATA	0.498																																						dbGAP											0													79.0	67.0	71.0					11																	123676376		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.682A>C	11.37:g.123676376T>G	ENSP00000311038:p.Thr228Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T228P	ENST00000309154.2	37	c.682	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	T	2.820	-0.244923	0.05906	.	.	ENSG00000196099	ENST00000309154	T	0.00152	8.66	3.48	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.547689	0.13604	U	0.375611	T	0.00109	0.0003	N	0.20401	0.57	0.09310	N	1	B	0.30634	0.288	B	0.34346	0.18	T	0.14727	-1.0462	10	0.72032	D	0.01	.	5.1214	0.14862	0.0:0.702:0.0:0.298	.	228	Q8NGM8	OR6M1_HUMAN	P	228	ENSP00000311038:T228P	ENSP00000311038:T228P	T	-	1	0	OR6M1	123181586	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.741000	0.04855	0.157000	0.19338	-0.242000	0.12053	ACC	OR6M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196099		0.498	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	207	0.00	0	T	NM_001005325		123676376	123676376	-1	no_errors	ENST00000309154	ensembl	human	known	69_37n	missense	93	13.89	15	SNP	0.001	G
OR6Q1	219952	genome.wustl.edu	37	11	57798542	57798542	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:57798542A>C	ENST00000302622.3	+	1	141	c.118A>C	c.(118-120)Acc>Ccc	p.T40P	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTACCTGTTCACCTTGGTGGA	0.473																																						dbGAP											0													227.0	218.0	221.0					11																	57798542		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.118A>C	11.37:g.57798542A>C	ENSP00000307734:p.Thr40Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T40P	ENST00000302622.3	37	c.118	CCDS31541.1	11	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266674	0.59540	.	.	ENSG00000172381	ENST00000302622	T	0.00509	6.91	5.32	4.19	0.49359	.	0.000000	0.37304	N	0.002144	T	0.02533	0.0077	H	0.94925	3.6	0.18873	N	0.999986	D	0.89917	1.0	D	0.79784	0.993	T	0.15093	-1.0449	10	0.87932	D	0	.	10.0914	0.42449	0.9195:0.0:0.0805:0.0	.	40	Q8NGQ2	OR6Q1_HUMAN	P	40	ENSP00000307734:T40P	ENSP00000307734:T40P	T	+	1	0	OR6Q1	57555118	0.801000	0.28930	0.992000	0.48379	0.955000	0.61496	4.900000	0.63252	0.865000	0.35603	0.523000	0.50628	ACC	OR6Q1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000172381		0.473	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Q1	HGNC	protein_coding	OTTHUMT00000401257.1	341	0.58	2	A	NM_001005186		57798542	57798542	+1	no_errors	ENST00000302622	ensembl	human	known	69_37n	missense	264	10.81	32	SNP	0.327	C
OR6Q1	219952	genome.wustl.edu	37	11	57798588	57798588	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:57798588A>C	ENST00000302622.3	+	1	187	c.164A>C	c.(163-165)cAc>cCc	p.H55P	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGTTTGGACCACCGACTACGG	0.468																																						dbGAP											0													221.0	210.0	214.0					11																	57798588		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.164A>C	11.37:g.57798588A>C	ENSP00000307734:p.His55Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H55P	ENST00000302622.3	37	c.164	CCDS31541.1	11	.	.	.	.	.	.	.	.	.	.	A	0.557	-0.847061	0.02651	.	.	ENSG00000172381	ENST00000302622	T	0.00490	7.03	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002081	T	0.00178	0.0005	N	0.01242	-0.935	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.44174	-0.9345	10	0.15952	T	0.53	.	12.7488	0.57296	1.0:0.0:0.0:0.0	.	55	Q8NGQ2	OR6Q1_HUMAN	P	55	ENSP00000307734:H55P	ENSP00000307734:H55P	H	+	2	0	OR6Q1	57555164	0.000000	0.05858	0.555000	0.28281	0.819000	0.46315	-0.021000	0.12504	1.897000	0.54924	0.523000	0.50628	CAC	OR6Q1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172381		0.468	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Q1	HGNC	protein_coding	OTTHUMT00000401257.1	321	0.31	1	A	NM_001005186		57798588	57798588	+1	no_errors	ENST00000302622	ensembl	human	known	69_37n	missense	231	11.83	31	SNP	0.519	C
OR6M1	390261	genome.wustl.edu	37	11	123676832	123676832	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123676832T>G	ENST00000309154.2	-	1	263	c.226A>C	c.(226-228)Acc>Ccc	p.T76P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	76						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)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AACTTTGGGGTAATGACAGTG	0.428																																						dbGAP											0													126.0	113.0	118.0					11																	123676832		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.226A>C	11.37:g.123676832T>G	ENSP00000311038:p.Thr76Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T76P	ENST00000309154.2	37	c.226	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	T	3.141	-0.176262	0.06380	.	.	ENSG00000196099	ENST00000309154	T	0.02579	4.24	3.53	-0.219	0.13135	GPCR, rhodopsin-like superfamily (1);	1.092810	0.07285	U	0.871467	T	0.06050	0.0157	M	0.76328	2.33	0.09310	N	1	B	0.31435	0.323	B	0.35859	0.212	T	0.39210	-0.9625	10	0.87932	D	0	.	7.1474	0.25591	0.0:0.4706:0.0:0.5293	.	76	Q8NGM8	OR6M1_HUMAN	P	76	ENSP00000311038:T76P	ENSP00000311038:T76P	T	-	1	0	OR6M1	123182042	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.580000	0.02121	0.044000	0.15775	0.528000	0.53228	ACC	OR6M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000196099		0.428	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	352	0.00	0	T	NM_001005325		123676832	123676832	-1	no_errors	ENST00000309154	ensembl	human	known	69_37n	missense	226	12.31	32	SNP	0.000	G
OR6V1	346517	genome.wustl.edu	37	7	142749602	142749602	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142749602A>C	ENST00000418316.1	+	1	186	c.165A>C	c.(163-165)acA>acC	p.T55T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ACCTACATACACCCATGTACT	0.502																																						dbGAP											0													269.0	262.0	265.0					7																	142749602		2033	4200	6233	-	-	-	SO:0001819	synonymous_variant	0				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.165A>C	7.37:g.142749602A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I0|B9EH48|Q6IF70	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T55	ENST00000418316.1	37	c.165	CCDS47728.1	7																																																																																			OR6V1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000225781		0.502	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	HGNC	protein_coding	OTTHUMT00000350860.1	371	0.00	0	A			142749602	142749602	+1	no_errors	ENST00000418316	ensembl	human	known	69_37n	silent	354	10.35	41	SNP	0.000	C
OR6V1	346517	genome.wustl.edu	37	7	142749759	142749759	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142749759A>C	ENST00000418316.1	+	1	343	c.322A>C	c.(322-324)Acc>Ccc	p.T108P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCTGGGGTCCACCTCCTTCCT	0.562																																						dbGAP											0													137.0	144.0	142.0					7																	142749759		2163	4276	6439	-	-	-	SO:0001583	missense	0				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.322A>C	7.37:g.142749759A>C	ENSP00000396085:p.Thr108Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T108P	ENST00000418316.1	37	c.322	CCDS47728.1	7	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902381	0.52227	.	.	ENSG00000225781	ENST00000418316	D	0.81659	-1.52	4.53	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.88706	0.6509	M	0.88704	2.975	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.79065	-0.1956	9	0.87932	D	0	.	8.1352	0.31050	0.9026:0.0:0.0974:0.0	.	108	Q8N148	OR6V1_HUMAN	P	108	ENSP00000396085:T108P	ENSP00000396085:T108P	T	+	1	0	OR6V1	142459881	0.000000	0.05858	0.200000	0.23457	0.961000	0.63080	0.584000	0.23864	0.763000	0.33175	0.533000	0.62120	ACC	OR6V1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000225781		0.562	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	HGNC	protein_coding	OTTHUMT00000350860.1	271	0.36	1	A			142749759	142749759	+1	no_errors	ENST00000418316	ensembl	human	known	69_37n	missense	234	17.71	51	SNP	0.049	C
OR6V1	346517	genome.wustl.edu	37	7	142750149	142750149	+	Missense_Mutation	SNP	A	A	C	rs540929777		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142750149A>C	ENST00000418316.1	+	1	733	c.712A>C	c.(712-714)Act>Cct	p.T238P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCTTTCTCCACTTGCGGGTC	0.547																																						dbGAP											0													134.0	138.0	136.0					7																	142750149		2051	4199	6250	-	-	-	SO:0001583	missense	0				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.712A>C	7.37:g.142750149A>C	ENSP00000396085:p.Thr238Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T238P	ENST00000418316.1	37	c.712	CCDS47728.1	7	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276887	0.59758	.	.	ENSG00000225781	ENST00000418316	T	0.42131	0.98	4.72	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73674	0.3617	H	0.97214	3.96	0.32334	N	0.560633	D	0.89917	1.0	D	0.97110	1.0	T	0.80279	-0.1449	9	0.87932	D	0	.	8.8383	0.35126	0.8321:0.0:0.0:0.1679	.	238	Q8N148	OR6V1_HUMAN	P	238	ENSP00000396085:T238P	ENSP00000396085:T238P	T	+	1	0	OR6V1	142460271	0.999000	0.42202	0.856000	0.33681	0.601000	0.36947	6.638000	0.74309	0.797000	0.33971	0.533000	0.62120	ACT	OR6V1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000225781		0.547	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	HGNC	protein_coding	OTTHUMT00000350860.1	222	0.45	1	A			142750149	142750149	+1	no_errors	ENST00000418316	ensembl	human	known	69_37n	missense	183	12.02	25	SNP	0.995	C
OR6X1	390260	genome.wustl.edu	37	11	123624773	123624773	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123624773T>G	ENST00000327930.2	-	1	480	c.454A>C	c.(454-456)Acc>Ccc	p.T152P		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGACAATGGTGAAGCCCACC	0.522																																						dbGAP											0													101.0	103.0	102.0					11																	123624773		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.454A>C	11.37:g.123624773T>G	ENSP00000333724:p.Thr152Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGW9|Q6IFA0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T152P	ENST00000327930.2	37	c.454	CCDS31695.1	11	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301746	0.40694	.	.	ENSG00000221931	ENST00000327930	T	0.37235	1.21	4.69	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27967	0.0689	N	0.21545	0.675	0.09310	N	1	P	0.47484	0.896	P	0.46629	0.522	T	0.26538	-1.0100	9	0.87932	D	0	-8.4803	9.2666	0.37645	0.0:0.4344:0.0:0.5656	.	152	Q8NH79	OR6X1_HUMAN	P	152	ENSP00000333724:T152P	ENSP00000333724:T152P	T	-	1	0	OR6X1	123129983	0.000000	0.05858	0.033000	0.17914	0.858000	0.48976	-1.182000	0.03082	-0.488000	0.06726	0.528000	0.53228	ACC	OR6X1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221931		0.522	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	130	0.76	1	T	NM_001005188		123624773	123624773	-1	no_errors	ENST00000327930	ensembl	human	known	69_37n	missense	95	15.18	17	SNP	0.000	G
OR6X1	390260	genome.wustl.edu	37	11	123624922	123624922	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123624922T>G	ENST00000327930.2	-	1	331	c.305A>C	c.(304-306)cAc>cCc	p.H102P		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACGAAGAAGTGGAAGAAGGC	0.522																																						dbGAP											0													145.0	142.0	143.0					11																	123624922		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.305A>C	11.37:g.123624922T>G	ENSP00000333724:p.His102Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGW9|Q6IFA0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H102P	ENST00000327930.2	37	c.305	CCDS31695.1	11	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977595	0.53720	.	.	ENSG00000221931	ENST00000327930	T	0.02974	4.09	4.34	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03390	0.0098	L	0.28192	0.835	0.30819	N	0.73799	D	0.56521	0.976	P	0.47528	0.549	T	0.38265	-0.9669	9	0.72032	D	0.01	-10.3508	7.6007	0.28075	0.5188:0.0:0.0:0.4812	.	102	Q8NH79	OR6X1_HUMAN	P	102	ENSP00000333724:H102P	ENSP00000333724:H102P	H	-	2	0	OR6X1	123130132	0.044000	0.20184	0.997000	0.53966	0.986000	0.74619	2.774000	0.47694	0.191000	0.20236	0.528000	0.53228	CAC	OR6X1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221931		0.522	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	139	0.00	0	T	NM_001005188		123624922	123624922	-1	no_errors	ENST00000327930	ensembl	human	known	69_37n	missense	84	17.65	18	SNP	0.966	G
OR7D2	162998	genome.wustl.edu	37	19	9296873	9296873	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9296873A>C	ENST00000344248.2	+	1	595	c.416A>C	c.(415-417)cAc>cCc	p.H139P		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	139					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ATGAACCCCCACCTCTGTGGC	0.473																																						dbGAP											0													153.0	147.0	149.0					19																	9296873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.416A>C	19.37:g.9296873A>C	ENSP00000345563:p.His139Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H139P	ENST00000344248.2	37	c.416	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	G	2.674	-0.276858	0.05679	.	.	ENSG00000188000	ENST00000344248	T	0.37058	1.22	2.21	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.849756	0.09817	U	0.751942	T	0.28599	0.0708	N	0.25144	0.715	0.09310	N	1	B	0.30634	0.288	B	0.40038	0.317	T	0.44742	-0.9308	10	0.59425	D	0.04	.	7.9976	0.30277	0.5693:0.0:0.4307:0.0	.	139	Q96RA2	OR7D2_HUMAN	P	139	ENSP00000345563:H139P	ENSP00000345563:H139P	H	+	2	0	OR7D2	9157873	0.000000	0.05858	0.093000	0.20910	0.061000	0.15899	-2.158000	0.01281	-0.564000	0.06070	-1.183000	0.01708	CAC	OR7D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188000		0.473	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	353	0.56	2	A			9296873	9296873	+1	no_errors	ENST00000344248	ensembl	human	known	69_37n	missense	353	16.78	72	SNP	0.000	C
OR8H2	390151	genome.wustl.edu	37	11	55872856	55872856	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55872856A>C	ENST00000313503.1	+	1	338	c.338A>C	c.(337-339)tAc>tCc	p.Y113S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCTGAATGTTACCTTCTCTCC	0.458										HNSCC(53;0.14)																												dbGAP											0													238.0	240.0	239.0					11																	55872856		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.338A>C	11.37:g.55872856A>C	ENSP00000323982:p.Tyr113Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y113S	ENST00000313503.1	37	c.338	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	a	0.985	-0.695787	0.03279	.	.	ENSG00000181767	ENST00000313503	T	0.01323	5.01	3.35	-0.963	0.10330	GPCR, rhodopsin-like superfamily (1);	0.237121	0.30293	N	0.009943	T	0.01661	0.0053	L	0.58925	1.835	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41215	-0.9521	10	0.72032	D	0.01	.	5.3724	0.16146	0.4942:0.0842:0.0:0.4216	.	113	Q8N162	OR8H2_HUMAN	S	113	ENSP00000323982:Y113S	ENSP00000323982:Y113S	Y	+	2	0	OR8H2	55629432	0.000000	0.05858	0.057000	0.19452	0.002000	0.02628	0.541000	0.23207	0.038000	0.15604	-2.741000	0.00127	TAC	OR8H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181767		0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	530	0.38	2	A	NM_001005200		55872856	55872856	+1	no_errors	ENST00000313503	ensembl	human	known	69_37n	missense	368	12.14	51	SNP	0.000	C
OR8H2	390151	genome.wustl.edu	37	11	55873134	55873134	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55873134A>C	ENST00000313503.1	+	1	616	c.616A>C	c.(616-618)Acc>Ccc	p.T206P		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTTGGTTCCACCCTGATGGT	0.393										HNSCC(53;0.14)																												dbGAP											0													202.0	186.0	192.0					11																	55873134		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.616A>C	11.37:g.55873134A>C	ENSP00000323982:p.Thr206Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T206P	ENST00000313503.1	37	c.616	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	a	12.83	2.055760	0.36277	.	.	ENSG00000181767	ENST00000313503	T	0.00145	8.67	3.58	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.00356	0.0011	M	0.76574	2.34	0.09310	N	1	D	0.64830	0.994	D	0.71656	0.974	T	0.43294	-0.9400	10	0.72032	D	0.01	.	5.5932	0.17313	0.7353:0.1717:0.093:0.0	.	206	Q8N162	OR8H2_HUMAN	P	206	ENSP00000323982:T206P	ENSP00000323982:T206P	T	+	1	0	OR8H2	55629710	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.057000	0.11768	0.530000	0.28619	0.362000	0.22060	ACC	OR8H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181767		0.393	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	372	0.27	1	A	NM_001005200		55873134	55873134	+1	no_errors	ENST00000313503	ensembl	human	known	69_37n	missense	209	15.73	39	SNP	0.000	C
OR8H3	390152	genome.wustl.edu	37	11	55890464	55890464	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:55890464A>C	ENST00000313472.3	+	1	616	c.616A>C	c.(616-618)Acc>Ccc	p.T206P		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CGCTGGTTCCACCCTGATGGT	0.413																																						dbGAP											0													208.0	188.0	195.0					11																	55890464		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.616A>C	11.37:g.55890464A>C	ENSP00000323928:p.Thr206Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T206P	ENST00000313472.3	37	c.616	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397448	0.25205	.	.	ENSG00000181761	ENST00000313472	T	0.00145	8.67	3.62	-0.604	0.11626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.00271	0.0008	M	0.70595	2.14	0.09310	N	1	D	0.64830	0.994	D	0.71656	0.974	T	0.53034	-0.8495	10	0.72032	D	0.01	.	0.2159	0.00162	0.2203:0.1935:0.2048:0.3815	.	206	Q8N146	OR8H3_HUMAN	P	206	ENSP00000323928:T206P	ENSP00000323928:T206P	T	+	1	0	OR8H3	55647040	0.000000	0.05858	0.001000	0.08648	0.431000	0.31685	-0.459000	0.06728	0.374000	0.24650	0.145000	0.16022	ACC	OR8H3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181761		0.413	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	312	0.00	0	A	NM_001005201		55890464	55890464	+1	no_errors	ENST00000313472	ensembl	human	known	69_37n	missense	200	19.28	48	SNP	0.000	C
OR8J1	219477	genome.wustl.edu	37	11	56127867	56127867	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56127867A>C	ENST00000303039.3	+	1	177	c.145A>C	c.(145-147)Acc>Ccc	p.T49P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CATCACCCTCACCAGTGTTGA	0.502																																						dbGAP											0													162.0	147.0	152.0					11																	56127867		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.145A>C	11.37:g.56127867A>C	ENSP00000304060:p.Thr49Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T49P	ENST00000303039.3	37	c.145	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	A	17.03	3.285189	0.59867	.	.	ENSG00000172487	ENST00000303039	T	0.03035	4.07	4.05	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.090101	0.48767	D	0.000167	T	0.14098	0.0341	M	0.78344	2.41	0.22401	N	0.999132	P	0.39094	0.659	P	0.59889	0.865	T	0.01791	-1.1273	10	0.87932	D	0	.	6.579	0.22583	0.8016:0.0:0.1984:0.0	.	49	Q8NGP2	OR8J1_HUMAN	P	49	ENSP00000304060:T49P	ENSP00000304060:T49P	T	+	1	0	OR8J1	55884443	0.000000	0.05858	0.999000	0.59377	0.979000	0.70002	1.073000	0.30691	0.708000	0.31955	-0.288000	0.09946	ACC	OR8J1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172487		0.502	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	298	0.00	0	A	NM_001005205		56127867	56127867	+1	no_errors	ENST00000303039	ensembl	human	known	69_37n	missense	229	10.89	28	SNP	0.738	C
OR8B3	390271	genome.wustl.edu	37	11	124266658	124266658	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:124266658A>C	ENST00000354597.3	-	1	606	c.590T>G	c.(589-591)gTg>gGg	p.V197G		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGAACAACCACCTCGTTGAC	0.423																																						dbGAP											0													107.0	111.0	109.0					11																	124266658		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.590T>G	11.37:g.124266658A>C	ENSP00000346611:p.Val197Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V197G	ENST00000354597.3	37	c.590	CCDS31709.1	11	.	.	.	.	.	.	.	.	.	.	N	8.102	0.776850	0.16120	.	.	ENSG00000196661	ENST00000354597	T	0.00202	8.56	3.62	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.605116	0.14863	N	0.293959	T	0.00241	0.0007	L	0.45352	1.415	0.20703	N	0.999864	P	0.36753	0.568	P	0.45794	0.493	T	0.38329	-0.9666	10	0.87932	D	0	.	9.4099	0.38485	0.8399:0.0:0.0:0.1601	.	197	Q8NGG8	OR8B3_HUMAN	G	197	ENSP00000346611:V197G	ENSP00000346611:V197G	V	-	2	0	OR8B3	123771868	0.242000	0.23868	0.001000	0.08648	0.006000	0.05464	3.612000	0.54142	0.715000	0.32103	0.454000	0.30748	GTG	OR8B3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196661		0.423	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	HGNC	protein_coding	OTTHUMT00000387291.1	246	0.00	0	A	NM_001005467		124266658	124266658	-1	no_errors	ENST00000354597	ensembl	human	known	69_37n	missense	142	14.79	25	SNP	0.005	C
OR8A1	390275	genome.wustl.edu	37	11	124440743	124440743	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:124440743A>C	ENST00000284287.3	+	1	851	c.779A>C	c.(778-780)cAc>cCc	p.H260P		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	260					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCAGCTCCCACCTTGCAGCC	0.498																																						dbGAP											0													88.0	81.0	83.0					11																	124440743		2201	4299	6500	-	-	-	SO:0001583	missense	0			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.779A>C	11.37:g.124440743A>C	ENSP00000284287:p.His260Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEW7|Q96RC6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H260P	ENST00000284287.3	37	c.779	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067388	0.76301	.	.	ENSG00000196119	ENST00000284287	T	0.00318	8.12	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000163	T	0.01454	0.0047	H	0.98786	4.33	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.08207	-1.0733	10	0.87932	D	0	.	14.5791	0.68274	1.0:0.0:0.0:0.0	.	260	Q8NGG7	OR8A1_HUMAN	P	260	ENSP00000284287:H260P	ENSP00000284287:H260P	H	+	2	0	OR8A1	123945953	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.617000	0.90927	2.098000	0.63641	0.528000	0.53228	CAC	OR8A1	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196119		0.498	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	HGNC	protein_coding	OTTHUMT00000387062.1	189	0.53	1	A	NM_001005194		124440743	124440743	+1	no_errors	ENST00000284287	ensembl	human	known	69_37n	missense	142	22.58	42	SNP	1.000	C
OR9A4	130075	genome.wustl.edu	37	7	141618866	141618866	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141618866A>C	ENST00000548136.1	+	1	250	c.191A>C	c.(190-192)cAc>cCc	p.H64P	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTCCTCGGCCACCTCTCTGCC	0.478																																						dbGAP											0													138.0	143.0	141.0					7																	141618866		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.191A>C	7.37:g.141618866A>C	ENSP00000448789:p.His64Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H64P	ENST00000548136.1	37	c.191	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	.	12.39	1.922321	0.33908	.	.	ENSG00000258083	ENST00000548136	T	0.02974	4.09	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14960	0.0361	M	0.93016	3.37	0.32964	D	0.521444	D	0.55605	0.972	P	0.55871	0.786	T	0.24261	-1.0165	9	0.87932	D	0	-19.2681	10.8406	0.46712	1.0:0.0:0.0:0.0	.	64	Q8NGU2	OR9A4_HUMAN	P	64	ENSP00000448789:H64P	ENSP00000386148:H64P	H	+	2	0	OR9A4	141265335	0.921000	0.31238	0.515000	0.27774	0.035000	0.12851	4.930000	0.63462	1.723000	0.51488	0.533000	0.62120	CAC	OR9A4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000258083		0.478	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	562	0.70	4	A	NM_001001656		141618866	141618866	+1	no_errors	ENST00000548136	ensembl	human	known	69_37n	missense	438	13.92	71	SNP	0.999	C
OR9A4	130075	genome.wustl.edu	37	7	141619345	141619345	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141619345A>C	ENST00000548136.1	+	1	729	c.670A>C	c.(670-672)Acc>Ccc	p.T224P	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CATCATCTCCACCATTCTCAA	0.463																																						dbGAP											0													131.0	137.0	135.0					7																	141619345		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.670A>C	7.37:g.141619345A>C	ENSP00000448789:p.Thr224Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T224P	ENST00000548136.1	37	c.670	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734326	0.48939	.	.	ENSG00000258083	ENST00000548136	T	0.00207	8.55	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	H	0.97564	4.03	0.28718	N	0.903202	P	0.50819	0.939	P	0.58873	0.847	T	0.02411	-1.1163	9	0.87932	D	0	-22.8887	10.8406	0.46712	1.0:0.0:0.0:0.0	.	224	Q8NGU2	OR9A4_HUMAN	P	224	ENSP00000448789:T224P	ENSP00000386148:T224P	T	+	1	0	OR9A4	141265814	0.000000	0.05858	1.000000	0.80357	0.700000	0.40528	0.235000	0.17948	1.723000	0.51488	0.533000	0.62120	ACC	OR9A4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000258083		0.463	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	384	0.26	1	A	NM_001001656		141619345	141619345	+1	no_errors	ENST00000548136	ensembl	human	known	69_37n	missense	301	16.80	61	SNP	0.996	C
OR9A4	130075	genome.wustl.edu	37	7	141619411	141619411	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141619411A>C	ENST00000548136.1	+	1	795	c.736A>C	c.(736-738)Acc>Ccc	p.T246P	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTCCCACTTCACCTGTGTTGT	0.507																																						dbGAP											0													86.0	89.0	88.0					7																	141619411		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.736A>C	7.37:g.141619411A>C	ENSP00000448789:p.Thr246Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T246P	ENST00000548136.1	37	c.736	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412189	0.42817	.	.	ENSG00000258083	ENST00000548136	T	0.00350	7.98	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00967	0.0032	H	0.97896	4.1	0.29429	N	0.860024	P	0.35226	0.491	P	0.46320	0.512	T	0.00025	-1.2316	9	0.87932	D	0	-19.9937	10.8406	0.46712	1.0:0.0:0.0:0.0	.	246	Q8NGU2	OR9A4_HUMAN	P	246	ENSP00000448789:T246P	ENSP00000386148:T246P	T	+	1	0	OR9A4	141265880	0.000000	0.05858	0.996000	0.52242	0.790000	0.44656	0.184000	0.16939	1.723000	0.51488	0.533000	0.62120	ACC	OR9A4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000258083		0.507	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	300	0.33	1	A	NM_001001656		141619411	141619411	+1	no_errors	ENST00000548136	ensembl	human	known	69_37n	missense	230	17.14	48	SNP	0.953	C
OR9G1	390174	genome.wustl.edu	37	11	56468591	56468591	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:56468591A>C	ENST00000312153.1	+	1	728	c.728A>C	c.(727-729)cAc>cCc	p.H243P		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGCTCCTCCCACCTGACCTCT	0.468																																						dbGAP											0													227.0	235.0	232.0					11																	56468591		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.728A>C	11.37:g.56468591A>C	ENSP00000309012:p.His243Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H243P	ENST00000312153.1	37	c.728	CCDS31536.1	11	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220185	0.58560	.	.	ENSG00000174914	ENST00000312153	T	0.00318	8.12	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01353	0.0044	H	0.98577	4.27	0.49483	D	0.999797	D	0.89917	1.0	D	0.97110	1.0	T	0.14699	-1.0463	10	0.87932	D	0	-33.1104	14.1253	0.65215	1.0:0.0:0.0:0.0	.	243	Q8NH87	OR9G1_HUMAN	P	243	ENSP00000309012:H243P	ENSP00000309012:H243P	H	+	2	0	OR9G1	56225167	1.000000	0.71417	0.986000	0.45419	0.494000	0.33585	8.098000	0.89540	2.044000	0.60594	0.519000	0.50382	CAC	OR9G1	-	pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174914		0.468	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G1	HGNC	protein_coding	OTTHUMT00000393253.1	566	0.35	2	A	NM_001005213		56468591	56468591	+1	no_errors	ENST00000312153	ensembl	human	known	69_37n	missense	380	15.57	71	SNP	1.000	C
OR9I1	219954	genome.wustl.edu	37	11	57886805	57886805	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:57886805T>G	ENST00000302610.1	-	1	111	c.112A>C	c.(112-114)Acc>Ccc	p.T38P	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CCAAGAAGGGTGACTAGGTAG	0.458																																						dbGAP											0													105.0	90.0	95.0					11																	57886805		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.112A>C	11.37:g.57886805T>G	ENSP00000302606:p.Thr38Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFH0|Q96RA8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T38P	ENST00000302610.1	37	c.112	CCDS31542.1	11	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810252	0.32053	.	.	ENSG00000172377	ENST00000302610	T	0.01446	4.88	5.23	4.07	0.47477	.	0.133125	0.34338	N	0.004058	T	0.14917	0.0360	H	0.97465	4.01	0.32973	D	0.522577	D	0.76494	0.999	D	0.85130	0.997	T	0.24440	-1.0160	10	0.87932	D	0	-38.6375	5.9812	0.19409	0.1482:0.08:0.0:0.7717	.	38	Q8NGQ6	OR9I1_HUMAN	P	38	ENSP00000302606:T38P	ENSP00000302606:T38P	T	-	1	0	OR9I1	57643381	0.987000	0.35691	0.985000	0.45067	0.077000	0.17291	2.793000	0.47845	1.080000	0.41073	0.482000	0.46254	ACC	OR9I1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000172377		0.458	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9I1	HGNC	protein_coding	OTTHUMT00000394539.1	212	0.47	1	T	NM_001005211		57886805	57886805	-1	no_errors	ENST00000302610	ensembl	human	known	69_37n	missense	146	11.52	19	SNP	0.978	G
OR9Q2	219957	genome.wustl.edu	37	11	57958362	57958362	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:57958362A>C	ENST00000311591.3	+	1	457	c.400A>C	c.(400-402)Acc>Ccc	p.T134P		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCTTTATGTCACCATCATAAC	0.552																																						dbGAP											0													101.0	91.0	94.0					11																	57958362		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.400A>C	11.37:g.57958362A>C	ENSP00000308714:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T134P	ENST00000311591.3	37	c.400	CCDS31544.1	11	.	.	.	.	.	.	.	.	.	.	A	10.73	1.431995	0.25813	.	.	ENSG00000186513	ENST00000311591	T	0.20332	2.08	4.86	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.132436	0.34580	N	0.003851	T	0.43567	0.1253	M	0.89715	3.055	0.09310	N	1	D	0.59357	0.985	P	0.58266	0.836	T	0.35400	-0.9790	10	0.72032	D	0.01	-22.0806	7.4701	0.27344	0.7566:0.0:0.2434:0.0	.	134	Q8NGE9	OR9Q2_HUMAN	P	134	ENSP00000308714:T134P	ENSP00000308714:T134P	T	+	1	0	OR9Q2	57714938	0.000000	0.05858	0.953000	0.39169	0.007000	0.05969	-0.175000	0.09825	0.435000	0.26365	-0.290000	0.09829	ACC	OR9Q2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000186513		0.552	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q2	HGNC	protein_coding	OTTHUMT00000394540.1	193	0.51	1	A	NM_001005283		57958362	57958362	+1	no_errors	ENST00000311591	ensembl	human	known	69_37n	missense	134	15.19	24	SNP	0.005	C
OSBPL6	114880	genome.wustl.edu	37	2	179214042	179214042	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179214042A>C	ENST00000190611.4	+	12	1455	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	OSBPL6_ENST00000315022.2_Missense_Mutation_p.H364P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.H385P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.H360P|OSBPL6_ENST00000357080.4_Missense_Mutation_p.H329P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.H360P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.H329P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	360					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCCCCTAGCCACCTCACTGAC	0.443																																						dbGAP											0													168.0	165.0	166.0					2																	179214042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1079A>C	2.37:g.179214042A>C	ENSP00000190611:p.His360Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H364P	ENST00000190611.4	37	c.1091	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575451	0.65878	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.11930	2.73;2.75;2.74;2.75;2.75;2.75;2.73	5.5	5.5	0.81552	.	0.101991	0.64402	D	0.000002	T	0.13586	0.0329	N	0.14661	0.345	0.51767	D	0.999937	B;P;P;P;P;B	0.50272	0.433;0.933;0.775;0.933;0.837;0.005	B;P;B;P;B;B	0.49799	0.092;0.622;0.256;0.622;0.25;0.002	T	0.17531	-1.0366	10	0.27082	T	0.32	-15.9026	15.6063	0.76676	1.0:0.0:0.0:0.0	.	329;364;360;385;360;329	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	P	385;360;329;329;360;360;364	ENSP00000376293:H385P;ENSP00000352713:H360P;ENSP00000349591:H329P;ENSP00000387248:H329P;ENSP00000190611:H360P;ENSP00000386885:H360P;ENSP00000318723:H364P	ENSP00000190611:H360P	H	+	2	0	OSBPL6	178922288	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.098000	0.63641	0.533000	0.62120	CAC	OSBPL6	-	NULL	ENSG00000079156		0.443	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	342	0.00	0	A	NM_032523		179214042	179214042	+1	no_errors	ENST00000315022	ensembl	human	known	69_37n	missense	283	10.97	35	SNP	1.000	C
OSGEP	55644	genome.wustl.edu	37	14	20915635	20915635	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20915635T>C	ENST00000206542.4	-	10	1335	c.914A>G	c.(913-915)gAg>gGg	p.E305G	OSGEP_ENST00000554249.1_Missense_Mutation_p.E123G|OSGEP_ENST00000555656.1_Missense_Mutation_p.E106G	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CCGAAACATCTCCCAGCCAGC	0.483																																						dbGAP											0													65.0	61.0	63.0					14																	20915635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.914A>G	14.37:g.20915635T>C	ENSP00000206542:p.Glu305Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_M22,prints_Peptidase_M22_subgr,tigrfam_Peptidase_M22_subgr	p.E305G	ENST00000206542.4	37	c.914	CCDS9549.1	14	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742506	0.69418	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249	T;T;T	0.17213	2.29;2.29;2.29	5.23	5.23	0.72850	.	0.048914	0.85682	N	0.000000	T	0.27098	0.0664	M	0.83312	2.635	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.07654	-1.0761	10	0.72032	D	0.01	-19.6038	14.0954	0.65019	0.0:0.0:0.0:1.0	.	305	Q9NPF4	OSGEP_HUMAN	G	106;305;123	ENSP00000451784:E106G;ENSP00000206542:E305G;ENSP00000451548:E123G	ENSP00000206542:E305G	E	-	2	0	OSGEP	19985475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	1.973000	0.57446	0.455000	0.32223	GAG	OSGEP	-	NULL	ENSG00000092094		0.483	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEP	HGNC	protein_coding	OTTHUMT00000073635.3	252	0.79	2	T	NM_017807		20915635	20915635	-1	no_errors	ENST00000206542	ensembl	human	known	69_37n	missense	261	17.30	55	SNP	1.000	C
OTUD7B	56957	genome.wustl.edu	37	1	149939361	149939361	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:149939361A>C	ENST00000369135.4	-	4	654	c.360T>G	c.(358-360)ggT>ggG	p.G120G	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	120					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGCTCCCCCCACCCCCACCAT	0.552																																						dbGAP											0													59.0	64.0	62.0					1																	149939361		1955	4152	6107	-	-	-	SO:0001819	synonymous_variant	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.360T>G	1.37:g.149939361A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.G120	ENST00000369135.4	37	c.360	CCDS41389.1	1																																																																																			OTUD7B	-	NULL	ENSG00000163113		0.552	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	89	0.00	0	A	NM_020205		149939361	149939361	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	silent	124	17.33	26	SNP	1.000	C
OXSR1	9943	genome.wustl.edu	37	3	38263143	38263143	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:38263143A>C	ENST00000446845.1	+	6	937	c.565A>C	c.(565-567)Acc>Ccc	p.T189P	OXSR1_ENST00000311806.3_Missense_Mutation_p.T189P					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGTTGGCACCCCTTGTTG	0.383																																						dbGAP											0													199.0	198.0	198.0					3																	38263143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.565A>C	3.37:g.38263143A>C	ENSP00000415851:p.Thr189Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T189P	ENST00000446845.1	37	c.565		3	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779598	0.90195	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.41065	1.01;1.01	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81046	-0.1110	10	0.87932	D	0	-11.3773	14.6683	0.68924	1.0:0.0:0.0:0.0	.	189;189	C9JIG9;O95747	.;OXSR1_HUMAN	P	189	ENSP00000415851:T189P;ENSP00000311713:T189P	ENSP00000311713:T189P	T	+	1	0	OXSR1	38238147	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	9.240000	0.95396	2.134000	0.65973	0.460000	0.39030	ACC	OXSR1	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000172939		0.383	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	280	0.36	1	A	NM_005109		38263143	38263143	+1	no_errors	ENST00000311806	ensembl	human	known	69_37n	missense	257	13.71	41	SNP	1.000	C
P2RX7	5027	genome.wustl.edu	37	12	121622339	121622339	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:121622339A>C	ENST00000546057.1	+	13	1665	c.1522A>C	c.(1522-1524)Acc>Ccc	p.T508P	P2RX7_ENST00000535250.1_Missense_Mutation_p.T418P|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Missense_Mutation_p.T338P|P2RX7_ENST00000541446.1_Missense_Mutation_p.T219P	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	508					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTGCATCACCACCTCAGA	0.617																																						dbGAP											0													38.0	36.0	37.0					12																	121622339		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1522A>C	12.37:g.121622339A>C	ENSP00000442349:p.Thr508Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.T508P	ENST00000546057.1	37	c.1522	CCDS9213.1	12	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302322	0.81136	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.08193	4.08;3.66;3.85;3.12	5.21	5.21	0.72293	.	0.146929	0.31427	N	0.007679	T	0.31888	0.0811	M	0.85197	2.74	0.43476	D	0.995693	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.976;0.998;0.99;0.989	T	0.11275	-1.0594	10	0.87932	D	0	-22.6355	12.4464	0.55653	1.0:0.0:0.0:0.0	.	338;219;418;508	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	P	508;338;418;219	ENSP00000442349:T508P;ENSP00000330696:T338P;ENSP00000442572:T418P;ENSP00000437471:T219P	ENSP00000330696:T338P	T	+	1	0	P2RX7	120106722	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.802000	0.55553	1.967000	0.57214	0.482000	0.46254	ACC	P2RX7	-	prints_P2X7_purnocptor	ENSG00000089041		0.617	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1	61	0.00	0	A	NM_002562		121622339	121622339	+1	no_errors	ENST00000546057	ensembl	human	known	69_37n	missense	51	23.53	16	SNP	1.000	C
P2RX4	5025	genome.wustl.edu	37	12	121666904	121666904	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:121666904T>G	ENST00000337233.4	+	8	1192		c.e8+2		P2RX4_ENST00000543171.1_Splice_Site|P2RX4_ENST00000359949.7_Splice_Site|P2RX4_ENST00000541532.1_Splice_Site	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4						apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAATTTCAGGTGGGCGTGAGC	0.637																																						dbGAP											0													87.0	75.0	79.0					12																	121666904		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.884+2T>G	12.37:g.121666904T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Splice_Site	SNP	-	e8+2	ENST00000337233.4	37	c.884+2	CCDS9214.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243173	0.79912	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000542067	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1519	0.72706	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	P2RX4	120151287	1.000000	0.71417	0.996000	0.52242	0.792000	0.44763	7.530000	0.81962	2.180000	0.69256	0.379000	0.24179	.	P2RX4	-	-	ENSG00000135124		0.637	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX4	HGNC	protein_coding	OTTHUMT00000402545.1	60	0.00	0	T	NM_175567	Intron	121666904	121666904	+1	no_errors	ENST00000337233	ensembl	human	known	69_37n	splice_site	66	10.67	8	SNP	1.000	G
P2RY10	27334	genome.wustl.edu	37	X	78216877	78216877	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:78216877A>C	ENST00000171757.2	+	4	1140	c.860A>C	c.(859-861)cAc>cCc	p.H287P	P2RY10_ENST00000544091.1_Missense_Mutation_p.H287P	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTGTATTTCCACCCTTTTTGC	0.428																																						dbGAP											0													241.0	222.0	228.0					X																	78216877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.860A>C	X.37:g.78216877A>C	ENSP00000171757:p.His287Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.H287P	ENST00000171757.2	37	c.860	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638195	0.47153	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.71934	-0.61;-0.61	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.054132	0.64402	D	0.000001	D	0.84772	0.5546	M	0.87381	2.88	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.87294	0.2301	10	0.72032	D	0.01	.	12.5703	0.56332	1.0:0.0:0.0:0.0	.	287	O00398	P2Y10_HUMAN	P	287	ENSP00000443138:H287P;ENSP00000171757:H287P	ENSP00000171757:H287P	H	+	2	0	P2RY10	78103533	1.000000	0.71417	0.969000	0.41365	0.400000	0.30750	8.853000	0.92222	1.850000	0.53721	0.483000	0.47432	CAC	P2RY10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000078589		0.428	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	662	0.15	1	A			78216877	78216877	+1	no_errors	ENST00000171757	ensembl	human	known	69_37n	missense	486	13.37	75	SNP	1.000	C
P2RY13	53829	genome.wustl.edu	37	3	151046707	151046707	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:151046707A>C	ENST00000325602.5	-	2	156	c.137T>G	c.(136-138)gTa>gGa	p.V46G	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	46					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GGCTGGGAATACCAGCTGTAC	0.512																																						dbGAP											0													127.0	122.0	124.0					3																	151046707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.137T>G	3.37:g.151046707A>C	ENSP00000320376:p.Val46Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.V46G	ENST00000325602.5	37	c.137	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034617	0.75617	.	.	ENSG00000181631	ENST00000325602	T	0.39997	1.05	5.77	5.77	0.91146	.	0.355586	0.28047	N	0.016820	T	0.42337	0.1198	N	0.08118	0	0.58432	D	0.999999	D	0.60160	0.987	P	0.59825	0.864	T	0.54043	-0.8352	10	0.87932	D	0	-5.9928	16.0985	0.81148	1.0:0.0:0.0:0.0	.	46	Q9BPV8	P2Y13_HUMAN	G	46	ENSP00000320376:V46G	ENSP00000320376:V46G	V	-	2	0	P2RY13	152529397	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	8.415000	0.90241	2.197000	0.70478	0.455000	0.32223	GTA	P2RY13	-	prints_7TM_GPCR_Rhodpsn	ENSG00000181631		0.512	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	217	0.00	0	A	NM_023914		151046707	151046707	-1	no_errors	ENST00000325602	ensembl	human	known	69_37n	missense	209	11.02	26	SNP	0.999	C
P4HA3	283208	genome.wustl.edu	37	11	73996936	73996936	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:73996936T>G	ENST00000331597.4	-	7	1073	c.1028A>C	c.(1027-1029)cAc>cCc	p.H343P	P4HA3_ENST00000427714.2_Missense_Mutation_p.H343P	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	343						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGGCTCCAGGTGGATGACCTC	0.527																																						dbGAP											0													156.0	161.0	160.0					11																	73996936		2200	4293	6493	-	-	-	SO:0001583	missense	0			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1028A>C	11.37:g.73996936T>G	ENSP00000332170:p.His343Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.H343P	ENST00000331597.4	37	c.1028	CCDS8230.1	11	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364649	0.61513	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.56444	0.48;0.46	6.01	6.01	0.97437	.	0.185804	0.56097	D	0.000032	T	0.58278	0.2111	L	0.58101	1.795	0.35407	D	0.792139	D;D	0.54601	0.967;0.964	B;P	0.53912	0.326;0.737	T	0.68213	-0.5468	10	0.38643	T	0.18	-22.1968	8.9647	0.35869	0.0:0.0814:0.0:0.9186	.	343;343	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	P	343	ENSP00000332170:H343P;ENSP00000401749:H343P	ENSP00000332170:H343P	H	-	2	0	P4HA3	73674584	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.948000	0.49066	2.319000	0.78375	0.529000	0.55759	CAC	P4HA3	-	NULL	ENSG00000149380		0.527	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HA3	HGNC	protein_coding	OTTHUMT00000382988.1	197	0.50	1	T	NM_182904		73996936	73996936	-1	no_errors	ENST00000331597	ensembl	human	known	69_37n	missense	116	13.43	18	SNP	1.000	G
P4HTM	54681	genome.wustl.edu	37	3	49042366	49042366	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49042366T>G	ENST00000383729.4	+	6	1331	c.960T>G	c.(958-960)ggT>ggG	p.G320G	WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Silent_p.G320G|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	320	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TTCGATATGGTGAGGGGGGCC	0.627																																						dbGAP											0													99.0	84.0	89.0					3																	49042366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.960T>G	3.37:g.49042366T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G320	ENST00000383729.4	37	c.960	CCDS43089.1	3																																																																																			P4HTM	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000178467		0.627	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	23	0.00	0	T	NM_177938		49042366	49042366	+1	no_errors	ENST00000343546	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	0.962	G
P4HTM	54681	genome.wustl.edu	37	3	49042459	49042459	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49042459A>C	ENST00000383729.4	+	6	1424	c.1053A>C	c.(1051-1053)gtA>gtC	p.V351V	WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Silent_p.V351V|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	351	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACGAGTCTGTACCCTTCGAGA	0.597																																						dbGAP											0													142.0	106.0	118.0					3																	49042459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1053A>C	3.37:g.49042459A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.V351	ENST00000383729.4	37	c.1053	CCDS43089.1	3																																																																																			P4HTM	-	smart_Pro_4_hyd_alph	ENSG00000178467		0.597	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	30	0.00	0	A	NM_177938		49042459	49042459	+1	no_errors	ENST00000343546	ensembl	human	known	69_37n	silent	22	28.12	9	SNP	0.746	C
PABPC1L	80336	genome.wustl.edu	37	20	43559102	43559102	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:43559102T>G	ENST00000217073.2	+	8	974	c.974T>G	c.(973-975)gTg>gGg	p.V325G	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000255136.3_Splice_Site_p.V325G|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000217074.4_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	325	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCTTTTAGGTGATGACAGAG	0.602																																						dbGAP											0													167.0	157.0	161.0					20																	43559102		1568	3582	5150	-	-	-	SO:0001630	splice_region_variant	0			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.973-1T>G	20.37:g.43559102T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.V325G	ENST00000217073.2	37	c.974	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216459	0.79352	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.20738	2.05;2.05	5.67	4.55	0.56014	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68161	-0.5482	10	0.87932	D	0	.	11.9277	0.52829	0.1305:0.0:0.0:0.8695	.	325	Q4VXU2	PAP1L_HUMAN	G	325	ENSP00000255136:V325G;ENSP00000217073:V325G	ENSP00000217073:V325G	V	+	2	0	PABPC1L	42992516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	0.942000	0.37525	0.459000	0.35465	GTG	PABPC1L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000101104		0.602	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	227	0.00	0	T		Missense_Mutation	43559102	43559102	+1	no_errors	ENST00000217073	ensembl	human	known	69_37n	missense	353	11.28	45	SNP	1.000	G
PADI1	29943	genome.wustl.edu	37	1	17570781	17570781	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:17570781A>C	ENST00000375471.4	+	0	2127				PADI1_ENST00000537499.1_3'UTR|PADI1_ENST00000536552.1_3'UTR|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I						protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TTGCTAGGGAACCCTGCCAGG	0.602																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	dbGAP											0													27.0	28.0	28.0					1																	17570781		2203	4298	6501	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.*43A>C	1.37:g.17570781A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K6|Q70SX6	RNA	SNP	-	NULL	ENST00000375471.4	37	NULL	CCDS178.1	1																																																																																			PADI1	-	-	ENSG00000142623		0.602	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	27	0.00	0	A	NM_013358		17570781	17570781	+1	no_errors	ENST00000460293	ensembl	human	known	69_37n	rna	13	40.91	9	SNP	0.000	C
PADI6	353238	genome.wustl.edu	37	1	17698787	17698787	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:17698787A>C	ENST00000434762.2	+	0	97							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGTATCATCCACCTGTCCCTG	0.622																																						dbGAP											0													174.0	189.0	184.0					1																	17698787		2181	4282	6463	-	-	-			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17698787A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.622	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	85	0.00	0	A	NM_207421		17698787	17698787	+1	no_errors	ENST00000358481	ensembl	human	known	69_37n	rna	44	22.81	13	SNP	0.000	C
PAFAH1B2	5049	genome.wustl.edu	37	11	117034545	117034545	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:117034545T>G	ENST00000527958.1	+	5	507	c.348T>G	c.(346-348)ggT>ggG	p.G116G	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Silent_p.G116G|PAFAH1B2_ENST00000530272.1_Silent_p.G116G|PAFAH1B2_ENST00000419197.2_Silent_p.G116G	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	116					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		AAGTAGCAGGTGGGATCGAGG	0.423			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23	5049	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""		L	0													201.0	185.0	191.0					11																	117034545		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.348T>G	11.37:g.117034545T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.G116	ENST00000527958.1	37	c.348	CCDS8380.1	11																																																																																			PAFAH1B2	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	ENSG00000168092		0.423	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding	OTTHUMT00000392826.1	163	0.61	1	T	NM_002572		117034545	117034545	+1	no_errors	ENST00000527958	ensembl	human	known	69_37n	silent	115	17.02	24	SNP	0.999	G
PAK7	57144	genome.wustl.edu	37	20	9561403	9561403	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:9561403T>G	ENST00000378429.3	-	5	925	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	PAK7_ENST00000378423.1_Missense_Mutation_p.T127P|PAK7_ENST00000353224.5_Missense_Mutation_p.T127P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	127	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGGAGAAGGTGATGAAGCCA	0.532																																						dbGAP											0													199.0	198.0	198.0					20																	9561403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.379A>C	20.37:g.9561403T>G	ENSP00000367686:p.Thr127Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.T127P	ENST00000378429.3	37	c.379	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836025	0.32421	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.47528	0.84;0.84;0.84	5.22	5.22	0.72569	.	0.195507	0.56097	D	0.000036	T	0.38692	0.1050	L	0.40543	1.245	0.37605	D	0.920707	P;B	0.44578	0.838;0.104	B;B	0.41813	0.367;0.02	T	0.40739	-0.9547	9	.	.	.	.	9.6198	0.39714	0.0:0.0783:0.0:0.9217	.	127;127	B0AZM9;Q9P286	.;PAK7_HUMAN	P	127;127;127;75	ENSP00000367686:T127P;ENSP00000322957:T127P;ENSP00000367679:T127P	.	T	-	1	0	PAK7	9509403	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.765000	0.55272	1.979000	0.57680	0.460000	0.39030	ACC	PAK7	-	NULL	ENSG00000101349		0.532	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	328	0.00	0	T			9561403	9561403	-1	no_errors	ENST00000353224	ensembl	human	known	69_37n	missense	260	12.16	36	SNP	1.000	G
PALM2	114299	genome.wustl.edu	37	9	112694277	112694277	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:112694277A>C	ENST00000374531.2	+	6	474				AKAP2_ENST00000510514.5_Silent_p.S155S|PALM2_ENST00000314527.4_Silent_p.S155S|PALM2_ENST00000483909.1_Intron|PALM2-AKAP2_ENST00000302798.7_Silent_p.S155S|AKAP2_ENST00000555236.1_Silent_p.S155S|PALM2-AKAP2_ENST00000374530.3_Silent_p.S155S|PALM2_ENST00000448454.2_Silent_p.S157S	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CAGAACCATCACCTGGGCAGG	0.517																																						dbGAP											0													119.0	114.0	116.0					9																	112694277		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6915A>C	9.37:g.112694277A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.S155	ENST00000374531.2	37	c.465	CCDS35099.1	9																																																																																			PALM2-AKAP2	-	NULL	ENSG00000157654		0.517	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000053604.1	151	0.00	0	A	NM_001037293		112694277	112694277	+1	no_errors	ENST00000374530	ensembl	human	known	69_37n	silent	109	18.71	26	SNP	0.978	C
AKAP2	11217	genome.wustl.edu	37	9	112898610	112898610	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:112898610A>C	ENST00000259318.7	+	2	300	c.93A>C	c.(91-93)tcA>tcC	p.S31S	AKAP2_ENST00000510514.5_Silent_p.S262S|AKAP2_ENST00000434623.2_Silent_p.S120S|PALM2-AKAP2_ENST00000302798.7_Silent_p.S262S|AKAP2_ENST00000555236.1_Silent_p.S262S|PALM2-AKAP2_ENST00000374530.3_Silent_p.S262S|AKAP2_ENST00000374525.1_Silent_p.S120S	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	31										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTTTCTATTCACCCCCGCATA	0.483																																						dbGAP											0													181.0	164.0	170.0					9																	112898610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.93A>C	9.37:g.112898610A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.S262	ENST00000259318.7	37	c.786	CCDS48003.1	9																																																																																			PALM2-AKAP2	-	NULL	ENSG00000157654		0.483	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	233	0.43	1	A	NM_001004065		112898610	112898610	+1	no_errors	ENST00000374530	ensembl	human	known	69_37n	silent	230	18.09	51	SNP	0.000	C
PAMR1	25891	genome.wustl.edu	37	11	35457467	35457467	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:35457467T>G	ENST00000378880.2	-	9	1762	c.1317A>C	c.(1315-1317)gcA>gcC	p.A439A	PAMR1_ENST00000278360.3_Silent_p.A456A|PAMR1_ENST00000378878.3_Silent_p.A328A|PAMR1_ENST00000532848.1_Silent_p.A399A	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	439	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCAGGATGGTGCCCGCCCAC	0.537																																						dbGAP											0													81.0	74.0	77.0					11																	35457467		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1317A>C	11.37:g.35457467T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A456	ENST00000378880.2	37	c.1368	CCDS31460.1	11																																																																																			PAMR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000149090		0.537	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	188	0.00	0	T	NM_015430		35457467	35457467	-1	no_errors	ENST00000278360	ensembl	human	known	69_37n	silent	196	18.60	45	SNP	0.441	G
PAPPA	5069	genome.wustl.edu	37	9	118974154	118974154	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:118974154A>C	ENST00000328252.3	+	4	2230	c.1861A>C	c.(1861-1863)Acc>Ccc	p.T621P	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	621					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGGAAATGACACCTGTGGCTT	0.522																																						dbGAP											0													252.0	248.0	249.0					9																	118974154		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1861A>C	9.37:g.118974154A>C	ENSP00000330658:p.Thr621Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.T621P	ENST00000328252.3	37	c.1861	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532249	0.85812	.	.	ENSG00000182752	ENST00000328252	T	0.02395	4.31	5.63	5.63	0.86233	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.17662	0.0424	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00182	-1.1946	10	0.87932	D	0	-24.1343	16.1359	0.81487	1.0:0.0:0.0:0.0	.	621	Q13219	PAPP1_HUMAN	P	621	ENSP00000330658:T621P	ENSP00000330658:T621P	T	+	1	0	PAPPA	118013975	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.248000	0.95456	2.276000	0.75962	0.454000	0.30748	ACC	PAPPA	-	pfam_Peptidase_M43	ENSG00000182752		0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	462	0.43	2	A	NM_002581		118974154	118974154	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	missense	317	13.24	49	SNP	1.000	C
PAQR9	344838	genome.wustl.edu	37	3	142681109	142681109	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:142681109A>C	ENST00000340634.3	-	1	1069	c.1070T>G	c.(1069-1071)gTg>gGg	p.V357G	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	357						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGGCAGACCACCAGCAGCAG	0.587																																						dbGAP											0													88.0	102.0	97.0					3																	142681109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.1070T>G	3.37:g.142681109A>C	ENSP00000341564:p.Val357Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T6	Missense_Mutation	SNP	pfam_HlyIII-related	p.V357G	ENST00000340634.3	37	c.1070	CCDS3128.1	3	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822955	0.32237	.	.	ENSG00000188582	ENST00000340634	T	0.26373	1.74	5.62	3.28	0.37604	.	0.547984	0.17172	N	0.184252	T	0.16727	0.0402	N	0.14661	0.345	0.45822	D	0.998695	B	0.33135	0.399	B	0.38156	0.266	T	0.07616	-1.0763	10	0.72032	D	0.01	-18.3703	7.1238	0.25461	0.6961:0.0:0.3039:0.0	.	357	Q6ZVX9	PAQR9_HUMAN	G	357	ENSP00000341564:V357G	ENSP00000341564:V357G	V	-	2	0	PAQR9	144163799	0.945000	0.32115	0.997000	0.53966	0.989000	0.77384	2.009000	0.40903	0.969000	0.38237	-0.263000	0.10527	GTG	PAQR9	-	NULL	ENSG00000188582		0.587	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	62	0.00	0	A	NM_198504		142681109	142681109	-1	no_errors	ENST00000340634	ensembl	human	known	69_37n	missense	45	17.86	10	SNP	0.957	C
PARD3	56288	genome.wustl.edu	37	10	34558596	34558596	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:34558596T>G	ENST00000374789.3	-	22	3742	c.3417A>C	c.(3415-3417)tcA>tcC	p.S1139S	PARD3_ENST00000545693.1_Silent_p.S1123S|PARD3_ENST00000374790.3_Silent_p.S1079S|PARD3_ENST00000374794.3_Silent_p.S1027S|PARD3_ENST00000374788.3_Silent_p.S1136S|PARD3_ENST00000350537.4_Silent_p.S1093S|PARD3_ENST00000545260.1_Silent_p.S1049S|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000346874.4_Silent_p.S1102S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1139					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCTACAGGTGAGGGTTTGG	0.502																																						dbGAP											0													83.0	70.0	74.0					10																	34558596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3417A>C	10.37:g.34558596T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1139	ENST00000374789.3	37	c.3417	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.502	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	142	0.00	0	T	NM_019619		34558596	34558596	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	silent	108	13.49	17	SNP	1.000	G
PARD3	56288	genome.wustl.edu	37	10	34739273	34739273	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:34739273A>C	ENST00000374789.3	-	5	1011	c.686T>G	c.(685-687)gTg>gGg	p.V229G	PARD3_ENST00000545693.1_Missense_Mutation_p.V229G|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000374776.1_Missense_Mutation_p.V229G|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374788.3_Missense_Mutation_p.V229G|PARD3_ENST00000340077.5_Missense_Mutation_p.V229G|PARD3_ENST00000350537.4_Missense_Mutation_p.V229G|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374773.1_Missense_Mutation_p.V229G|PARD3_ENST00000346874.4_Missense_Mutation_p.V229G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	229					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCACTTGCCCACCATTGGGTG	0.478																																						dbGAP											0													121.0	112.0	115.0					10																	34739273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.686T>G	10.37:g.34739273A>C	ENSP00000363921:p.Val229Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V229G	ENST00000374789.3	37	c.686	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451620	0.63290	.	.	ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000350537;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.91	5.91	0.95273	.	0.059259	0.64402	D	0.000002	T	0.53867	0.1823	L	0.41236	1.265	0.80722	D	1	D;P;D;P;P;B;P;B;B	0.89917	1.0;0.941;0.999;0.941;0.941;0.005;0.906;0.004;0.004	D;P;D;P;P;B;P;B;B	0.69824	0.966;0.796;0.966;0.796;0.796;0.009;0.802;0.01;0.011	T	0.44711	-0.9310	10	0.21540	T	0.41	.	16.0101	0.80396	1.0:0.0:0.0:0.0	.	229;229;229;229;229;229;229;229;229	Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;PARD3_HUMAN;.;.;.	G	229	ENSP00000443147:V229G;ENSP00000363921:V229G;ENSP00000363920:V229G;ENSP00000340591:V229G;ENSP00000311986:V229G;ENSP00000363908:V229G;ENSP00000341844:V229G;ENSP00000363905:V229G	ENSP00000341844:V229G	V	-	2	0	PARD3	34779279	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	8.573000	0.90759	2.259000	0.74868	0.528000	0.53228	GTG	PARD3	-	NULL	ENSG00000148498		0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	148	0.67	1	A	NM_019619		34739273	34739273	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	104	16.13	20	SNP	1.000	C
PARD3	56288	genome.wustl.edu	37	10	34985325	34985325	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:34985325A>C	ENST00000374789.3	-	2	468	c.143T>G	c.(142-144)gTg>gGg	p.V48G	PARD3_ENST00000545693.1_Missense_Mutation_p.V48G|PARD3_ENST00000374790.3_Missense_Mutation_p.V48G|PARD3_ENST00000374776.1_Missense_Mutation_p.V48G|PARD3_ENST00000374794.3_Missense_Mutation_p.V48G|PARD3_ENST00000374788.3_Missense_Mutation_p.V48G|PARD3_ENST00000340077.5_Missense_Mutation_p.V48G|PARD3_ENST00000350537.4_Missense_Mutation_p.V48G|PARD3_ENST00000545260.1_Missense_Mutation_p.V48G|PARD3_ENST00000374773.1_Missense_Mutation_p.V48G|PARD3_ENST00000346874.4_Missense_Mutation_p.V48G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	48					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAAGCGATGCACCTGTATCCA	0.408																																						dbGAP											0													287.0	243.0	258.0					10																	34985325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.143T>G	10.37:g.34985325A>C	ENSP00000363921:p.Val48Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V48G	ENST00000374789.3	37	c.143	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537523	0.85917	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;0.995;0.999;0.999;0.999;0.992;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.993;0.998;0.993;0.999;0.999;0.994;0.984;0.999;0.991	T	0.78991	-0.1985	10	0.87932	D	0	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	48;48;48;48;48;48;48;48;48;48;48	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	G	48	ENSP00000443147:V48G;ENSP00000440857:V48G;ENSP00000363921:V48G;ENSP00000363920:V48G;ENSP00000340591:V48G;ENSP00000363926:V48G;ENSP00000311986:V48G;ENSP00000363922:V48G;ENSP00000363908:V48G;ENSP00000341844:V48G;ENSP00000363905:V48G	ENSP00000341844:V48G	V	-	2	0	PARD3	35025331	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.940000	0.75917	2.155000	0.67459	0.528000	0.53228	GTG	PARD3	-	pfam_DUF3534	ENSG00000148498		0.408	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	545	0.00	0	A	NM_019619		34985325	34985325	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	592	13.30	91	SNP	1.000	C
PARD3B	117583	genome.wustl.edu	37	2	206480219	206480219	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:206480219A>C	ENST00000406610.2	+	23	3507	c.3300A>C	c.(3298-3300)gcA>gcC	p.A1100A	PARD3B_ENST00000358768.2_Silent_p.A1038A|PARD3B_ENST00000351153.1_Silent_p.A1031A|PARD3B_ENST00000349953.3_Silent_p.A999A|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1100					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGCCAGCAGCACCTCGGGGGC	0.587																																						dbGAP											0													99.0	102.0	101.0					2																	206480219		1917	4136	6053	-	-	-	SO:0001819	synonymous_variant	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3300A>C	2.37:g.206480219A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A1100	ENST00000406610.2	37	c.3300		2																																																																																			PARD3B	-	NULL	ENSG00000116117		0.587	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	184	0.00	0	A	NM_057177		206480219	206480219	+1	no_errors	ENST00000406610	ensembl	human	known	69_37n	silent	148	13.45	23	SNP	0.775	C
PARD3B	117583	genome.wustl.edu	37	2	206480320	206480320	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:206480320T>G	ENST00000406610.2	+	23	3608	c.3401T>G	c.(3400-3402)gTg>gGg	p.V1134G	PARD3B_ENST00000358768.2_Missense_Mutation_p.V1072G|PARD3B_ENST00000351153.1_Missense_Mutation_p.V1065G|PARD3B_ENST00000349953.3_Missense_Mutation_p.V1033G|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1134					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGCTCAGGGTGGCAGATCTC	0.617																																						dbGAP											0													65.0	73.0	71.0					2																	206480320		1969	4153	6122	-	-	-	SO:0001583	missense	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3401T>G	2.37:g.206480320T>G	ENSP00000385848:p.Val1134Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V1134G	ENST00000406610.2	37	c.3401		2	.	.	.	.	.	.	.	.	.	.	T	6.432	0.447894	0.12223	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.11063	3.01;2.81;3.01;3.0	5.42	1.37	0.22104	.	0.846317	0.10304	N	0.690841	T	0.09158	0.0226	L	0.45137	1.4	0.09310	N	1	B;B;B;B	0.21905	0.062;0.0;0.009;0.0	B;B;B;B	0.21708	0.036;0.001;0.014;0.002	T	0.40040	-0.9584	10	0.24483	T	0.36	.	5.9963	0.19495	0.0:0.2088:0.1276:0.6636	.	1134;1065;1072;1033	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	G	1134;1072;1065;1033	ENSP00000385848:V1134G;ENSP00000351618:V1072G;ENSP00000317261:V1065G;ENSP00000340280:V1033G	ENSP00000340280:V1033G	V	+	2	0	PARD3B	206188565	0.003000	0.15002	0.207000	0.23584	0.147000	0.21601	0.211000	0.17474	0.419000	0.25927	-0.385000	0.06624	GTG	PARD3B	-	NULL	ENSG00000116117		0.617	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	182	0.55	1	T	NM_057177		206480320	206480320	+1	no_errors	ENST00000406610	ensembl	human	known	69_37n	missense	129	15.48	24	SNP	0.053	G
PARM1	25849	genome.wustl.edu	37	4	75938141	75938141	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:75938141A>C	ENST00000307428.7	+	2	762	c.550A>C	c.(550-552)Acc>Ccc	p.T184P	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	184					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TGTGACCAGCACCCAACCCAC	0.577																																						dbGAP											0													214.0	226.0	222.0					4																	75938141		2141	4252	6393	-	-	-	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.550A>C	4.37:g.75938141A>C	ENSP00000370224:p.Thr184Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.T184P	ENST00000307428.7	37	c.550	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580490	0.28180	.	.	ENSG00000169116	ENST00000307428	T	0.22336	1.96	5.55	2.9	0.33743	.	0.907386	0.09485	N	0.795719	T	0.16727	0.0402	L	0.29908	0.895	0.09310	N	1	B	0.19073	0.033	B	0.19946	0.027	T	0.24512	-1.0158	10	0.41790	T	0.15	-5.5516	9.2356	0.37464	0.6436:0.3564:0.0:0.0	.	184	Q6UWI2	PARM1_HUMAN	P	184	ENSP00000370224:T184P	ENSP00000370224:T184P	T	+	1	0	PARM1	76157165	0.001000	0.12720	0.040000	0.18447	0.084000	0.17831	0.485000	0.22324	0.898000	0.36418	0.460000	0.39030	ACC	PARM1	-	NULL	ENSG00000169116		0.577	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	961	0.52	5	A	NM_015393		75938141	75938141	+1	no_errors	ENST00000307428	ensembl	human	known	69_37n	missense	724	10.84	88	SNP	0.031	C
PARM1	25849	genome.wustl.edu	37	4	75938167	75938167	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:75938167A>C	ENST00000307428.7	+	2	788	c.576A>C	c.(574-576)gcA>gcC	p.A192A	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	192					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCCAACTGCACCAGAGTCCC	0.562																																						dbGAP											0													180.0	193.0	189.0					4																	75938167		2141	4260	6401	-	-	-	SO:0001819	synonymous_variant	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.576A>C	4.37:g.75938167A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	NULL	p.A192	ENST00000307428.7	37	c.576	CCDS47077.1	4																																																																																			PARM1	-	NULL	ENSG00000169116		0.562	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	875	0.68	6	A	NM_015393		75938167	75938167	+1	no_errors	ENST00000307428	ensembl	human	known	69_37n	silent	664	10.32	77	SNP	0.032	C
PARM1	25849	genome.wustl.edu	37	4	75938251	75938251	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:75938251A>C	ENST00000307428.7	+	2	872	c.660A>C	c.(658-660)acA>acC	p.T220T	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	220					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGGAGAAAACACCCCCAACAA	0.547																																						dbGAP											0													105.0	114.0	111.0					4																	75938251		2103	4221	6324	-	-	-	SO:0001819	synonymous_variant	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.660A>C	4.37:g.75938251A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	NULL	p.T220	ENST00000307428.7	37	c.660	CCDS47077.1	4																																																																																			PARM1	-	NULL	ENSG00000169116		0.547	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	596	1.00	6	A	NM_015393		75938251	75938251	+1	no_errors	ENST00000307428	ensembl	human	known	69_37n	silent	395	17.26	83	SNP	0.000	C
PARM1	25849	genome.wustl.edu	37	4	75938312	75938312	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:75938312A>C	ENST00000307428.7	+	2	933	c.721A>C	c.(721-723)Acc>Ccc	p.T241P	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	241					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GACCACCACCACCTTTCCCAG	0.478																																						dbGAP											0													97.0	101.0	100.0					4																	75938312		2066	4209	6275	-	-	-	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.721A>C	4.37:g.75938312A>C	ENSP00000370224:p.Thr241Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.T241P	ENST00000307428.7	37	c.721	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061756	0.36373	.	.	ENSG00000169116	ENST00000307428	T	0.25414	1.8	5.68	-4.43	0.03568	.	0.864254	0.10130	N	0.712145	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22068	-1.0227	10	0.30078	T	0.28	-3.734	2.7101	0.05173	0.5273:0.1435:0.2008:0.1284	.	241	Q6UWI2	PARM1_HUMAN	P	241	ENSP00000370224:T241P	ENSP00000370224:T241P	T	+	1	0	PARM1	76157336	0.000000	0.05858	0.003000	0.11579	0.769000	0.43574	-0.623000	0.05546	-1.660000	0.01486	-0.385000	0.06624	ACC	PARM1	-	NULL	ENSG00000169116		0.478	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	451	0.22	1	A	NM_015393		75938312	75938312	+1	no_errors	ENST00000307428	ensembl	human	known	69_37n	missense	298	17.40	63	SNP	0.000	C
PARP1	142	genome.wustl.edu	37	1	226549089	226549089	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:226549089T>G	ENST00000366794.5	-	0	3260				PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1						base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCGGCCAGGTGAGTTGGTGC	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.*72A>C	1.37:g.226549089T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANJ4|Q8IUZ9	RNA	SNP	-	NULL	ENST00000366794.5	37	NULL	CCDS1554.1	1																																																																																			PARP1	-	-	ENSG00000143799		0.473	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	22	0.00	0	T	NM_001618		226549089	226549089	-1	no_errors	ENST00000463968	ensembl	human	known	69_37n	rna	27	36.36	16	SNP	0.000	G
PARP3	10039	genome.wustl.edu	37	3	51981810	51981810	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:51981810T>G	ENST00000417220.2	+	11	1819	c.1331T>G	c.(1330-1332)gTg>gGg	p.V444G	PARP3_ENST00000431474.1_Missense_Mutation_p.V444G|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Missense_Mutation_p.V451G			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	444	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGGTGAGGTGGCCCTGGGC	0.612																																						dbGAP											0													142.0	143.0	143.0					3																	51981810		2073	4213	6286	-	-	-	SO:0001583	missense	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1331T>G	3.37:g.51981810T>G	ENSP00000395951:p.Val444Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.V451G	ENST00000417220.2	37	c.1352	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004862	0.74932	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.35973	1.28;1.28;1.28	5.2	4.03	0.46877	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.974	T	0.79298	-0.1861	10	0.87932	D	0	-19.3372	11.1306	0.48345	0.1385:0.0:0.0:0.8615	.	451;444	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	G	444;444;451	ENSP00000395951:V444G;ENSP00000401511:V444G;ENSP00000381740:V451G	ENSP00000381740:V451G	V	+	2	0	PARP3	51956850	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.047000	0.71038	0.802000	0.34089	0.459000	0.35465	GTG	PARP3	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000041880		0.612	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	103	0.95	1	T	NM_005485.4		51981810	51981810	+1	no_errors	ENST00000398755	ensembl	human	known	69_37n	missense	206	13.75	33	SNP	1.000	G
PARP14	54625	genome.wustl.edu	37	3	122418545	122418545	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:122418545A>C	ENST00000474629.2	+	6	1410	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGAATCAAGACCTGGCAGGC	0.458																																						dbGAP											0													134.0	128.0	130.0					3																	122418545		1992	4160	6152	-	-	-	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1144A>C	3.37:g.122418545A>C	ENSP00000418194:p.Thr382Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.T382P	ENST00000474629.2	37	c.1144	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476572	0.63737	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10573	2.86	5.19	2.71	0.32032	.	0.264360	0.31507	N	0.007521	T	0.23611	0.0571	M	0.63843	1.955	0.38763	D	0.954365	D;D	0.61080	0.989;0.981	P;P	0.61201	0.885;0.77	T	0.01537	-1.1330	10	0.72032	D	0.01	.	9.6142	0.39681	0.7219:0.0:0.0:0.2781	.	382;382	Q460N5-4;Q460N5	.;PAR14_HUMAN	P	382;301	ENSP00000418194:T382P	ENSP00000381228:T301P	T	+	1	0	PARP14	123901235	0.040000	0.19996	0.933000	0.37362	0.916000	0.54674	1.776000	0.38594	0.387000	0.25024	0.460000	0.39030	ACC	PARP14	-	NULL	ENSG00000173193		0.458	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	302	0.00	0	A	NM_017554		122418545	122418545	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	missense	241	10.07	27	SNP	0.986	C
PARP6	56965	genome.wustl.edu	37	15	72548915	72548915	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:72548915A>C	ENST00000569795.1	-	14	1703	c.1016T>G	c.(1015-1017)gTg>gGg	p.V339G	PARP6_ENST00000260376.7_Missense_Mutation_p.V339G|PARP6_ENST00000287196.9_Missense_Mutation_p.V339G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	339							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACACATGGCCACCAGCAGATC	0.493																																						dbGAP											0													55.0	53.0	54.0					15																	72548915		1913	4141	6054	-	-	-	SO:0001583	missense	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1016T>G	15.37:g.72548915A>C	ENSP00000456348:p.Val339Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.V339G	ENST00000569795.1	37	c.1016	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433856	0.83776	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.999	D;D;D	0.78314	0.988;0.966;0.991	T	0.80692	-0.1269	9	0.87932	D	0	-35.7839	14.9587	0.71138	1.0:0.0:0.0:0.0	.	339;339;271	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	G	339;339;339;184;184;339	.	ENSP00000260376:V339G	V	-	2	0	PARP6	70335969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.097000	0.94193	2.140000	0.66376	0.533000	0.62120	GTG	PARP6	-	NULL	ENSG00000137817		0.493	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	89	0.00	0	A	NM_020214		72548915	72548915	-1	no_errors	ENST00000287196	ensembl	human	known	69_37n	missense	89	15.09	16	SNP	1.000	C
PARP6	56965	genome.wustl.edu	37	15	72559863	72559863	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:72559863A>C	ENST00000569795.1	-	0	643				CELF6_ENST00000569547.1_3'UTR|PARP6_ENST00000260376.7_5'UTR|PARP6_ENST00000287196.9_5'UTR|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCTAGGCAGCACCCCTCCATA	0.542																																						dbGAP											0													91.0	89.0	90.0					15																	72559863		2083	4215	6298	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.-45T>G	15.37:g.72559863A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	RNA	SNP	-	NULL	ENST00000569795.1	37	NULL	CCDS10241.2	15																																																																																			PARP6	-	-	ENSG00000137817		0.542	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	45	0.00	0	A	NM_020214		72559863	72559863	-1	no_errors	ENST00000413097	ensembl	human	known	69_37n	rna	47	30.88	21	SNP	1.000	C
PARP9	83666	genome.wustl.edu	37	3	122255022	122255022	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:122255022T>G	ENST00000360356.2	-	10	2405	c.2178A>C	c.(2176-2178)acA>acC	p.T726T	PARP9_ENST00000492382.1_Silent_p.T271T|PARP9_ENST00000471785.1_Silent_p.T691T|PARP9_ENST00000477522.2_Silent_p.T691T|PARP9_ENST00000462315.1_Silent_p.T691T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	726	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TACCGCAAGGTGTCGAGTACA	0.473																																						dbGAP											0													220.0	182.0	195.0					3																	122255022		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2178A>C	3.37:g.122255022T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.T726	ENST00000360356.2	37	c.2178	CCDS3014.1	3																																																																																			PARP9	-	pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000138496		0.473	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	740	0.27	2	T	NM_031458		122255022	122255022	-1	no_errors	ENST00000360356	ensembl	human	known	69_37n	silent	665	11.41	86	SNP	0.058	G
PARVA	55742	genome.wustl.edu	37	11	12534909	12534909	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:12534909T>G	ENST00000550549.1	+	9	847		c.e9+2		PARVA_ENST00000539723.1_Splice_Site|PARVA_ENST00000334956.8_Splice_Site|PARVA_ENST00000538608.1_Missense_Mutation_p.V214G			Q9NVD7	PARVA_HUMAN	parvin, alpha						actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GTGAAAAAGGTGGGAAAGGGG	0.527																																						dbGAP											0													189.0	190.0	189.0					11																	12534909		2040	4192	6232	-	-	-	SO:0001630	splice_region_variant	0			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.798+2T>G	11.37:g.12534909T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C85|Q9HA48	Splice_Site	SNP	-	e9+2	ENST00000550549.1	37	c.918+2		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.989109|3.989109	0.74589|0.74589	.|.	.|.	ENSG00000197702|ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549|ENST00000538608	.|T	.|0.36520	.|1.25	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60011	.|0.2236	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.71674	.|0.998	.|D	.|0.80764	.|0.994	.|T	.|0.62181	.|-0.6908	.|7	.|.	.|.	.|.	.|.	15.0401|15.0401	0.71785|0.71785	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|214	.|B7Z952	.|.	.|G	-1|214	.|ENSP00000442960:V214G	.|.	.|V	+|+	.|2	.|0	PARVA|PARVA	12491485|12491485	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.702000|0.702000	0.40608|0.40608	8.040000|8.040000	0.89188|0.89188	2.036000|2.036000	0.60181|0.60181	0.379000|0.379000	0.24179|0.24179	.|GTG	PARVA	-	-	ENSG00000197702		0.527	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding		217	0.91	2	T	NM_018222	Intron	12534909	12534909	+1	no_errors	ENST00000334956	ensembl	human	known	69_37n	splice_site	359	13.60	57	SNP	1.000	G
PARVB	29780	genome.wustl.edu	37	22	44395435	44395435	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:44395435T>G	ENST00000406477.3	+	2	223	c.93T>G	c.(91-93)cgT>cgG	p.R31R		NM_001003828.2	NP_001003828.1	Q9HBI1	PARVB_HUMAN	parvin, beta	0					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				agctgagacgtgggtgttcct	0.517																																						dbGAP											0													83.0	88.0	87.0					22																	44395435		2033	4178	6211	-	-	-	SO:0001819	synonymous_variant	0			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000406477.3:c.93T>G	22.37:g.44395435T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R31	ENST00000406477.3	37	c.93	CCDS46724.1	22																																																																																			PARVB	-	NULL	ENSG00000188677		0.517	PARVB-001	KNOWN	basic|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319517.1	111	0.00	0	T	NM_001003828		44395435	44395435	+1	no_errors	ENST00000406477	ensembl	human	known	69_37n	silent	71	17.44	15	SNP	0.000	G
PASD1	139135	genome.wustl.edu	37	X	150839661	150839661	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:150839661A>C	ENST00000370357.4	+	12	1468	c.1223A>C	c.(1222-1224)cAc>cCc	p.H408P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	408						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGGATCACCTTCAGGTC	0.468																																						dbGAP											0													165.0	136.0	146.0					X																	150839661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1223A>C	X.37:g.150839661A>C	ENSP00000359382:p.His408Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.H408P	ENST00000370357.4	37	c.1223	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584600	0.28268	.	.	ENSG00000166049	ENST00000370357	T	0.17691	2.26	3.78	3.78	0.43462	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B	0.22683	0.073	B	0.19148	0.024	T	0.17048	-1.0382	9	0.72032	D	0.01	-9.3444	8.0921	0.30807	1.0:0.0:0.0:0.0	.	408	Q8IV76	PASD1_HUMAN	P	408	ENSP00000359382:H408P	ENSP00000359382:H408P	H	+	2	0	PASD1	150590317	0.068000	0.21057	0.034000	0.17996	0.001000	0.01503	0.895000	0.28363	1.726000	0.51525	0.430000	0.28490	CAC	PASD1	-	NULL	ENSG00000166049		0.468	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	236	0.84	2	A	NM_173493		150839661	150839661	+1	no_errors	ENST00000370357	ensembl	human	known	69_37n	missense	179	12.62	26	SNP	0.032	C
PATL1	219988	genome.wustl.edu	37	11	59423499	59423499	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:59423499T>G	ENST00000300146.9	-	7	827	c.743A>C	c.(742-744)cAc>cCc	p.H248P		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	248	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGGAAAAGGGTGACCCAGGAG	0.438																																						dbGAP											0													13.0	13.0	13.0					11																	59423499		1818	4066	5884	-	-	-	SO:0001583	missense	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.743A>C	11.37:g.59423499T>G	ENSP00000300146:p.His248Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.H248P	ENST00000300146.9	37	c.743	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	T	9.937	1.216458	0.22373	.	.	ENSG00000166889	ENST00000300146	T	0.47528	0.84	4.91	3.74	0.42951	.	0.432668	0.27113	N	0.020866	T	0.37237	0.0996	L	0.40543	1.245	0.34280	D	0.682083	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	10	0.30078	T	0.28	-7.4738	11.2752	0.49163	0.0:0.0:0.1535:0.8465	.	248	Q86TB9	PATL1_HUMAN	P	248	ENSP00000300146:H248P	ENSP00000300146:H248P	H	-	2	0	PATL1	59180075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.807000	0.47955	0.675000	0.31264	0.533000	0.62120	CAC	PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	33	0.00	0	T	NM_152716		59423499	59423499	-1	no_errors	ENST00000300146	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	G
PAX4	5078	genome.wustl.edu	37	7	127255099	127255099	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:127255099A>C	ENST00000341640.2	-	2	376	c.171T>G	c.(169-171)ggT>ggG	p.G57G	PAX4_ENST00000463946.1_Silent_p.G55G|PAX4_ENST00000378740.2_Silent_p.G57G|PAX4_ENST00000338516.3_Silent_p.G65G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	65	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCTCCAAGACACCTGTGCGGT	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	dbGAP											0													97.0	91.0	93.0					7																	127255099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.171T>G	7.37:g.127255099A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95161|Q6B0H0	Silent	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.G57	ENST00000341640.2	37	c.171	CCDS5797.1	7																																																																																			PAX4	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000106331		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	119	0.00	0	A			127255099	127255099	-1	no_errors	ENST00000341640	ensembl	human	known	69_37n	silent	76	18.09	17	SNP	0.844	C
PAX5	5079	genome.wustl.edu	37	9	37006507	37006507	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:37006507T>G	ENST00000358127.4	-	4	512	c.438A>C	c.(436-438)ccA>ccC	p.P146P	PAX5_ENST00000446742.1_Silent_p.P80P|PAX5_ENST00000377852.2_Silent_p.P146P|PAX5_ENST00000520281.1_Silent_p.P146P|PAX5_ENST00000377847.2_Silent_p.P146P|PAX5_ENST00000523241.1_Silent_p.P146P|PAX5_ENST00000522003.1_Silent_p.P38P|PAX5_ENST00000520154.1_Silent_p.P146P|PAX5_ENST00000377853.2_Silent_p.P146P|PAX5_ENST00000414447.1_Silent_p.P146P|PAX5_ENST00000523145.1_Silent_p.P38P|RP11-297B17.3_ENST00000509911.2_RNA	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	146					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTTGGTTGGGTGGCTGCTGTA	0.408			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	dbGAP		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	40	Unknown(40)	haematopoietic_and_lymphoid_tissue(40)											195.0	188.0	190.0					9																	37006507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.438A>C	9.37:g.37006507T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Silent	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.P146	ENST00000358127.4	37	c.438	CCDS6607.1	9																																																																																			PAX5	-	NULL	ENSG00000196092		0.408	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX5	HGNC	protein_coding	OTTHUMT00000052433.1	117	0.00	0	T			37006507	37006507	-1	no_errors	ENST00000358127	ensembl	human	known	69_37n	silent	67	22.09	19	SNP	0.732	G
PAX8	7849	genome.wustl.edu	37	2	114002140	114002140	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:114002140T>G	ENST00000429538.3	-	4	447	c.253A>C	c.(253-255)Acc>Ccc	p.T85P	PAX8_ENST00000397647.3_Missense_Mutation_p.T85P|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.T85P|PAX8_ENST00000263334.5_Missense_Mutation_p.T85P|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.T85P|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	85	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTTGGGGGTGGCCACCTTG	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	dbGAP		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0													153.0	169.0	164.0					2																	114002140		2145	4275	6420	-	-	-	SO:0001583	missense	0			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.253A>C	2.37:g.114002140T>G	ENSP00000395498:p.Thr85Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	p.T85P	ENST00000429538.3	37	c.253	CCDS46398.1	2	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252730	0.80135	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99462	-5.94;-5.94;-5.94;-5.94;-5.94	5.32	4.16	0.48862	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.152498	0.64402	D	0.000016	D	0.99632	0.9865	H	0.96777	3.88	0.80722	D	1	B;D;D;D;D	0.89917	0.124;1.0;0.998;1.0;0.999	B;D;D;D;D	0.97110	0.07;0.999;0.996;0.996;1.0	D	0.98362	1.0549	10	0.87932	D	0	.	9.2834	0.37742	0.0:0.0862:0.0:0.9138	.	85;85;85;85;85	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	P	85	ENSP00000263335:T85P;ENSP00000380768:T85P;ENSP00000314750:T85P;ENSP00000395498:T85P;ENSP00000263334:T85P	ENSP00000263334:T85P	T	-	1	0	PAX8	113718610	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	0.870000	0.35726	0.533000	0.62120	ACC	PAX8	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000125618		0.567	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX8	HGNC	protein_coding	OTTHUMT00000250353.5	190	0.00	0	T			114002140	114002140	-1	no_errors	ENST00000429538	ensembl	human	known	69_37n	missense	206	15.10	37	SNP	1.000	G
PBXIP1	57326	genome.wustl.edu	37	1	154918515	154918515	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154918515A>C	ENST00000368463.3	-	10	1706	c.1635T>G	c.(1633-1635)agT>agG	p.S545R	PBXIP1_ENST00000542459.1_Missense_Mutation_p.S390R|PBXIP1_ENST00000368465.1_Missense_Mutation_p.S516R|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.S372R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	545					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAAGCTACCACTTTTCCTTG	0.607																																						dbGAP											0													154.0	158.0	157.0					1																	154918515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1635T>G	1.37:g.154918515A>C	ENSP00000357448:p.Ser545Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.S545R	ENST00000368463.3	37	c.1635	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413173	0.42817	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.13196	2.61;2.62;2.64;2.63	4.5	-0.646	0.11472	.	1.358150	0.04344	N	0.354560	T	0.10035	0.0246	M	0.62723	1.935	0.21416	N	0.999697	D	0.53462	0.96	P	0.51918	0.684	T	0.31833	-0.9929	10	0.23891	T	0.37	-1.1739	9.1034	0.36683	0.4617:0.0:0.5383:0.0	.	545	Q96AQ6	PBIP1_HUMAN	R	516;545;545;372;321;390	ENSP00000357450:S516R;ENSP00000357448:S545R;ENSP00000440142:S372R;ENSP00000438584:S390R	ENSP00000295523:S545R	S	-	3	2	PBXIP1	153185139	0.000000	0.05858	0.165000	0.22776	0.810000	0.45777	-0.200000	0.09478	-0.020000	0.14032	0.260000	0.18958	AGT	PBXIP1	-	NULL	ENSG00000163346		0.607	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	221	0.45	1	A	NM_020524		154918515	154918515	-1	no_errors	ENST00000368463	ensembl	human	known	69_37n	missense	399	11.87	54	SNP	0.844	C
PCDH1	5097	genome.wustl.edu	37	5	141243817	141243817	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:141243817T>G	ENST00000394536.3	-	3	2218	c.2079A>C	c.(2077-2079)ccA>ccC	p.P693P	PCDH1_ENST00000536585.1_Silent_p.P671P|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.P681P|PCDH1_ENST00000287008.3_Silent_p.P693P|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	693	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGAGCGAGGTGGGACGCCAC	0.537																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													129.0	118.0	122.0					5																	141243817		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2079A>C	5.37:g.141243817T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P693	ENST00000394536.3	37	c.2079	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000156453		0.537	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	112	0.88	1	T	NM_032420		141243817	141243817	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	silent	122	18.67	28	SNP	0.849	G
PCDH1	5097	genome.wustl.edu	37	5	141244740	141244740	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:141244740T>G	ENST00000394536.3	-	3	1295	c.1156A>C	c.(1156-1158)Acc>Ccc	p.T386P	PCDH1_ENST00000536585.1_Missense_Mutation_p.T364P|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.T374P|PCDH1_ENST00000287008.3_Missense_Mutation_p.T386P|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	386	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATCTCAATGGTGGGGGCATTG	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													147.0	125.0	133.0					5																	141244740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1156A>C	5.37:g.141244740T>G	ENSP00000378043:p.Thr386Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T386P	ENST00000394536.3	37	c.1156	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	t	10.39	1.336851	0.24253	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.35	4.13	0.48395	Cadherin (2);Cadherin-like (1);	0.278681	0.25261	N	0.031959	T	0.36138	0.0956	M	0.63843	1.955	0.38381	D	0.945121	B;P	0.37423	0.323;0.594	B;B	0.37144	0.078;0.242	T	0.45934	-0.9227	10	0.62326	D	0.03	.	4.2189	0.10547	0.1881:0.0938:0.0:0.7181	.	386;386	Q08174;Q08174-2	PCDH1_HUMAN;.	P	386;386;374;397;364	ENSP00000287008:T386P;ENSP00000378043:T386P;ENSP00000403497:T374P;ENSP00000350122:T397P;ENSP00000438825:T364P	ENSP00000287008:T386P	T	-	1	0	PCDH1	141224924	0.982000	0.34865	1.000000	0.80357	0.991000	0.79684	1.031000	0.30165	2.263000	0.75096	0.524000	0.50904	ACC	PCDH1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000156453		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	202	0.98	2	T	NM_032420		141244740	141244740	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	missense	209	12.55	30	SNP	1.000	G
PCDH10	57575	genome.wustl.edu	37	4	134084338	134084338	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:134084338A>C	ENST00000264360.5	+	4	3830	c.3004A>C	c.(3004-3006)Acc>Ccc	p.T1002P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1002					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTCCTTTTCCACCTTTGGCAA	0.527																																						dbGAP											0													119.0	126.0	124.0					4																	134084338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3004A>C	4.37:g.134084338A>C	ENSP00000264360:p.Thr1002Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1002P	ENST00000264360.5	37	c.3004	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133111	0.77662	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.79352	-1.26	5.24	5.24	0.73138	.	0.000000	0.40728	N	0.001030	D	0.84701	0.5530	L	0.50333	1.59	0.54753	D	0.999987	D	0.76494	0.999	D	0.78314	0.991	D	0.86329	0.1697	10	0.87932	D	0	.	14.9665	0.71198	1.0:0.0:0.0:0.0	.	1002	Q9P2E7	PCD10_HUMAN	P	1002	ENSP00000264360:T1002P	ENSP00000264360:T1002P	T	+	1	0	PCDH10	134303788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.194000	0.70268	0.528000	0.53228	ACC	PCDH10	-	NULL	ENSG00000138650		0.527	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	218	0.00	0	A	NM_032961		134084338	134084338	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	missense	154	13.97	25	SNP	1.000	C
PCDH11X	27328	genome.wustl.edu	37	X	91873600	91873600	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:91873600A>C	ENST00000373094.1	+	7	4550	c.3705A>C	c.(3703-3705)ccA>ccC	p.P1235P	PCDH11X_ENST00000298274.8_Silent_p.P1198P|PCDH11X_ENST00000373097.1_Silent_p.P1225P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.P1217P|PCDH11X_ENST00000373088.1_Silent_p.P1198P|PCDH11X_ENST00000406881.1_Silent_p.P1227P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1235					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCACAGCCCACCATCAGCAC	0.587																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													159.0	136.0	144.0					X																	91873600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3705A>C	X.37:g.91873600A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1235	ENST00000373094.1	37	c.3705	CCDS14461.1	X																																																																																			PCDH11X	-	NULL	ENSG00000102290		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	376	0.53	2	A	NM_032969		91873600	91873600	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	silent	263	13.96	43	SNP	0.026	C
PCDH15	65217	genome.wustl.edu	37	10	55582766	55582766	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:55582766A>C	ENST00000320301.6	-	33	5114	c.4720T>G	c.(4720-4722)Tgg>Ggg	p.W1574G	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.W1505G|PCDH15_ENST00000395432.2_Missense_Mutation_p.W1534G|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.W1551G|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.W1576G|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.W1571G|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1574					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GACTGACTCCACAGCCTCTGA	0.473										HNSCC(58;0.16)																												dbGAP											0													87.0	86.0	87.0					10																	55582766		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4720T>G	10.37:g.55582766A>C	ENSP00000322604:p.Trp1574Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W1574G	ENST00000320301.6	37	c.4720	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077040	0.55753	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.77229	-0.76;-0.78;-0.69;-0.83;-0.84;-1.08	5.81	3.49	0.39957	.	.	.	.	.	D	0.82641	0.5081	L	0.61218	1.895	0.48632	D	0.999689	P;P;P;P;D;P;P;P	0.59357	0.773;0.864;0.749;0.945;0.985;0.864;0.773;0.773	P;B;B;P;P;B;P;B	0.60236	0.515;0.437;0.434;0.735;0.871;0.437;0.515;0.437	T	0.81824	-0.0755	9	0.72032	D	0.01	.	9.9615	0.41699	0.8617:0.0:0.1383:0.0	.	1551;1574;1576;1581;1505;1534;1571;1574	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	G	1534;1576;1551;1574;1571;1581;1505	ENSP00000378820:W1534G;ENSP00000354950:W1576G;ENSP00000378821:W1551G;ENSP00000322604:W1574G;ENSP00000378818:W1571G;ENSP00000412628:W1505G	ENSP00000322604:W1574G	W	-	1	0	PCDH15	55252772	1.000000	0.71417	0.640000	0.29408	0.786000	0.44442	6.012000	0.70767	0.468000	0.27243	-0.256000	0.11100	TGG	PCDH15	-	NULL	ENSG00000150275		0.473	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	201	0.98	2	A	NM_033056		55582766	55582766	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	0.995	C
PCDH18	54510	genome.wustl.edu	37	4	138451006	138451006	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:138451006T>G	ENST00000344876.4	-	1	2623	c.2237A>C	c.(2236-2238)cAc>cCc	p.H746P	PCDH18_ENST00000412923.2_Missense_Mutation_p.H746P|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.H526P	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	746					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCTTTTTGGGTGGTGCTGGTA	0.483																																						dbGAP											0													204.0	170.0	181.0					4																	138451006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2237A>C	4.37:g.138451006T>G	ENSP00000355082:p.His746Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H746P	ENST00000344876.4	37	c.2237	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457844	0.63401	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55052	0.64;0.65;0.54	5.53	5.53	0.82687	.	0.000000	0.45126	D	0.000385	T	0.68155	0.2970	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68765	0.915;0.947;0.96	T	0.65668	-0.6112	10	0.32370	T	0.25	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	526;746;746	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	746;746;526	ENSP00000355082:H746P;ENSP00000390688:H746P;ENSP00000425903:H526P	ENSP00000355082:H746P	H	-	2	0	PCDH18	138670456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.473000	0.81007	2.315000	0.78130	0.533000	0.62120	CAC	PCDH18	-	NULL	ENSG00000189184		0.483	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	145	0.00	0	T	NM_019035		138451006	138451006	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	missense	104	14.75	18	SNP	1.000	G
PCDH18	54510	genome.wustl.edu	37	4	138451790	138451790	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:138451790T>G	ENST00000344876.4	-	1	1839	c.1453A>C	c.(1453-1455)Acc>Ccc	p.T485P	PCDH18_ENST00000412923.2_Missense_Mutation_p.T485P|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T265P	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAACAGTGGTGATATATGCC	0.388																																						dbGAP											0													137.0	134.0	135.0					4																	138451790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1453A>C	4.37:g.138451790T>G	ENSP00000355082:p.Thr485Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T485P	ENST00000344876.4	37	c.1453	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938930	0.52972	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.52983	0.64;0.64;0.64	5.93	4.77	0.60923	Cadherin (3);Cadherin-like (1);	0.000000	0.44688	D	0.000440	T	0.70090	0.3184	M	0.91406	3.205	0.80722	D	1	D;D;D	0.60575	0.973;0.973;0.988	P;P;P	0.61800	0.756;0.894;0.828	T	0.75986	-0.3124	10	0.54805	T	0.06	.	11.4658	0.50239	0.0:0.0696:0.0:0.9303	.	265;485;485	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	485;485;265	ENSP00000355082:T485P;ENSP00000390688:T485P;ENSP00000425903:T265P	ENSP00000355082:T485P	T	-	1	0	PCDH18	138671240	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.019000	0.57181	2.261000	0.74972	0.460000	0.39030	ACC	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000189184		0.388	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	316	0.31	1	T	NM_019035		138451790	138451790	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	missense	229	13.86	37	SNP	1.000	G
PCDH18	54510	genome.wustl.edu	37	4	138451806	138451806	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:138451806T>G	ENST00000344876.4	-	1	1823	c.1437A>C	c.(1435-1437)tcA>tcC	p.S479S	PCDH18_ENST00000412923.2_Silent_p.S479S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.S259S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCCCCTGGTGAGTTATTTT	0.388																																						dbGAP											0													130.0	128.0	129.0					4																	138451806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1437A>C	4.37:g.138451806T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S479	ENST00000344876.4	37	c.1437	CCDS34064.1	4																																																																																			PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000189184		0.388	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	323	0.31	1	T	NM_019035		138451806	138451806	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	silent	235	10.98	29	SNP	0.010	G
PCDH20	64881	genome.wustl.edu	37	13	61986585	61986585	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:61986585T>G	ENST00000409186.1	-	5	3752	c.1647A>C	c.(1645-1647)tcA>tcC	p.S549S	PCDH20_ENST00000409204.4_Silent_p.S549S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	549	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGCATTGGGTGAGTTGTTCT	0.398																																						dbGAP											0													151.0	154.0	153.0					13																	61986585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1647A>C	13.37:g.61986585T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S549	ENST00000409186.1	37	c.1647	CCDS9442.2	13																																																																																			PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197991		0.398	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	343	0.29	1	T	NM_022843		61986585	61986585	-1	no_errors	ENST00000409186	ensembl	human	known	69_37n	silent	182	14.08	30	SNP	0.558	G
PCDH20	64881	genome.wustl.edu	37	13	61987043	61987043	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:61987043T>G	ENST00000409186.1	-	5	3294	c.1189A>C	c.(1189-1191)Acc>Ccc	p.T397P	PCDH20_ENST00000409204.4_Missense_Mutation_p.T397P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	397	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCAAGGATGGTGAGCTTGTGG	0.428																																						dbGAP											0													102.0	101.0	101.0					13																	61987043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1189A>C	13.37:g.61987043T>G	ENSP00000386653:p.Thr397Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T397P	ENST00000409186.1	37	c.1189	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460813	0.63513	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.56275	0.47;0.47	5.9	5.9	0.94986	.	0.088113	0.49305	D	0.000148	T	0.67702	0.2921	M	0.79258	2.445	0.53005	D	0.999967	D	0.54397	0.966	P	0.55303	0.773	T	0.67929	-0.5543	10	0.35671	T	0.21	.	16.3275	0.82990	0.0:0.0:0.0:1.0	.	397	A8K1K9	.	P	397;397;143	ENSP00000387250:T397P;ENSP00000386653:T397P	ENSP00000351500:T143P	T	-	1	0	PCDH20	60885044	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.197000	0.72100	2.266000	0.75297	0.528000	0.53228	ACC	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.428	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	317	0.00	0	T	NM_022843		61987043	61987043	-1	no_errors	ENST00000409186	ensembl	human	known	69_37n	missense	213	13.06	32	SNP	1.000	G
PCDH20	64881	genome.wustl.edu	37	13	61987648	61987648	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:61987648A>C	ENST00000409186.1	-	5	2689	c.584T>G	c.(583-585)gTg>gGg	p.V195G	PCDH20_ENST00000409204.4_Missense_Mutation_p.V195G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	195	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGCGATCTTCACCTTCACAAA	0.532																																						dbGAP											0													105.0	89.0	94.0					13																	61987648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.584T>G	13.37:g.61987648A>C	ENSP00000386653:p.Val195Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V195G	ENST00000409186.1	37	c.584	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	a	21.8	4.196831	0.79015	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.63096	-0.02;-0.02	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000028	T	0.72407	0.3456	L	0.61387	1.9	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.69892	-0.5022	10	0.26408	T	0.33	.	15.8812	0.79207	1.0:0.0:0.0:0.0	.	195	A8K1K9	.	G	195	ENSP00000387250:V195G;ENSP00000386653:V195G	ENSP00000386653:V195G	V	-	2	0	PCDH20	60885649	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.278000	0.95766	2.152000	0.67230	0.529000	0.55759	GTG	PCDH20	-	pfscan_Cadherin	ENSG00000197991		0.532	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	161	0.00	0	A	NM_022843		61987648	61987648	-1	no_errors	ENST00000409186	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	1.000	C
PCDH7	5099	genome.wustl.edu	37	4	30725306	30725306	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:30725306A>C	ENST00000361762.2	+	1	3270	c.2262A>C	c.(2260-2262)ccA>ccC	p.P754P	PCDH7_ENST00000543491.1_Silent_p.P754P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	754	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTTACTGCCACCTTCGAGTA	0.458																																						dbGAP											0													79.0	74.0	76.0					4																	30725306		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2262A>C	4.37:g.30725306A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Protocadherin,pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T444P	ENST00000361762.2	37	c.1330	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	A	3.306	-0.141758	0.06669	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.04	2.36	0.29203	.	.	.	.	.	T	0.51805	0.1696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38607	-0.9653	4	.	.	.	.	5.0004	0.14262	0.6049:0.1458:0.2493:0.0	.	.	.	.	P	444	.	.	T	+	1	0	PCDH7	30334404	0.810000	0.29049	1.000000	0.80357	0.999000	0.98932	0.063000	0.14410	0.319000	0.23209	0.533000	0.62120	ACC	PCDH7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000169851		0.458	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	105	0.00	0	A	NM_032457, NM_002589		30725306	30725306	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511884	ensembl	human	putative	69_37n	missense	36	26.53	13	SNP	0.997	C
PCDH9	5101	genome.wustl.edu	37	13	67802048	67802048	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:67802048A>C	ENST00000377865.2	-	1	659	c.525T>G	c.(523-525)ggT>ggG	p.G175G	PCDH9_ENST00000328454.5_Silent_p.G175G|PCDH9_ENST00000377861.3_Silent_p.G175G|PCDH9_ENST00000456367.1_Silent_p.G175G|PCDH9_ENST00000544246.1_Silent_p.G175G			Q9HC56	PCDH9_HUMAN	protocadherin 9	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATGCTGTACACCATTGAAGC	0.428																																						dbGAP											0													118.0	120.0	119.0					13																	67802048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.525T>G	13.37:g.67802048A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G175	ENST00000377865.2	37	c.525	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	200	0.00	0	A	NM_203487		67802048	67802048	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	silent	140	10.83	17	SNP	1.000	C
PCDHB1	29930	genome.wustl.edu	37	5	140432342	140432342	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140432342A>C	ENST00000306549.3	+	1	1364	c.1287A>C	c.(1285-1287)ccA>ccC	p.P429P		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATACTGGACCACCTAGCTTGT	0.448																																						dbGAP											0													97.0	94.0	95.0					5																	140432342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1287A>C	5.37:g.140432342A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M257	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P429	ENST00000306549.3	37	c.1287	CCDS4243.1	5																																																																																			PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000171815		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	136	0.00	0	A	NM_013340		140432342	140432342	+1	no_errors	ENST00000306549	ensembl	human	known	69_37n	silent	118	15.71	22	SNP	0.986	C
PCDHB11	56125	genome.wustl.edu	37	5	140579544	140579544	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140579544T>G	ENST00000354757.3	+	1	197	c.197T>G	c.(196-198)gTg>gGg	p.V66G	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGCTCGGGTGGTCTCTAAT	0.512																																						dbGAP											0													94.0	105.0	101.0					5																	140579544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.197T>G	5.37:g.140579544T>G	ENSP00000346802:p.Val66Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V66G	ENST00000354757.3	37	c.197	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198044	0.58126	.	.	ENSG00000197479	ENST00000354757	T	0.36699	1.24	2.8	2.8	0.32819	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.64170	0.2574	M	0.93594	3.435	0.80722	D	1	D	0.55800	0.973	P	0.62649	0.905	T	0.72786	-0.4188	9	0.87932	D	0	.	10.8906	0.46994	0.0:0.0:0.0:1.0	.	66	Q9Y5F2	PCDBB_HUMAN	G	66	ENSP00000346802:V66G	ENSP00000346802:V66G	V	+	2	0	PCDHB11	140559728	0.961000	0.32948	0.001000	0.08648	0.113000	0.19764	7.467000	0.80930	1.277000	0.44412	0.383000	0.25322	GTG	PCDHB11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000197479		0.512	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	128	0.78	1	T	NM_018931		140579544	140579544	+1	no_errors	ENST00000354757	ensembl	human	known	69_37n	missense	96	20.00	24	SNP	0.021	G
PCDHB5	26167	genome.wustl.edu	37	5	140516055	140516055	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140516055A>C	ENST00000231134.5	+	1	1256	c.1039A>C	c.(1039-1041)Acc>Ccc	p.T347P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	347					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGAACTCACCATGTCTAC	0.507																																						dbGAP											0													109.0	116.0	114.0					5																	140516055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1039A>C	5.37:g.140516055A>C	ENSP00000231134:p.Thr347Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T347P	ENST00000231134.5	37	c.1039	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	A	8.898	0.955654	0.18507	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.61742	0.08	5.3	5.3	0.74995	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.57021	0.2025	L	0.39085	1.19	0.09310	N	1	P	0.52842	0.956	P	0.55391	0.775	T	0.54364	-0.8305	9	0.87932	D	0	.	4.3384	0.11097	0.6152:0.0:0.0869:0.2979	.	347	Q9Y5E4	PCDB5_HUMAN	P	347;131	ENSP00000231134:T347P	ENSP00000231134:T347P	T	+	1	0	PCDHB5	140496239	0.000000	0.05858	0.876000	0.34364	0.092000	0.18411	-0.718000	0.04980	2.139000	0.66308	0.413000	0.27773	ACC	PCDHB5	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113209		0.507	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	275	0.36	1	A	NM_015669		140516055	140516055	+1	no_errors	ENST00000231134	ensembl	human	known	69_37n	missense	212	11.25	27	SNP	0.000	C
PCDHB6	56130	genome.wustl.edu	37	5	140530343	140530343	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140530343T>G	ENST00000231136.1	+	1	505	c.505T>G	c.(505-507)Tac>Gac	p.Y169D	PCDHB6_ENST00000543635.1_Missense_Mutation_p.Y33D	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTCAGAGGTACACAATCAG	0.498																																						dbGAP											0													155.0	164.0	161.0					5																	140530343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.505T>G	5.37:g.140530343T>G	ENSP00000231136:p.Tyr169Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y169D	ENST00000231136.1	37	c.505	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	18.10	3.549401	0.65311	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.81247	-1.47;-0.02	4.7	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.94450	0.8214	H	0.99740	4.74	0.47737	D	0.999506	D	0.89917	1.0	D	0.97110	1.0	D	0.96757	0.9558	9	0.87932	D	0	.	14.4494	0.67374	0.0:0.0:0.0:1.0	.	169	Q9Y5E3	PCDB6_HUMAN	D	33;169	ENSP00000438466:Y33D;ENSP00000231136:Y169D	ENSP00000231136:Y169D	Y	+	1	0	PCDHB6	140510527	1.000000	0.71417	0.979000	0.43373	0.709000	0.40893	7.978000	0.88095	1.877000	0.54381	0.459000	0.35465	TAC	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.498	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	325	0.61	2	T	NM_018939		140530343	140530343	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	missense	229	17.08	48	SNP	0.998	G
PCDHB6	56130	genome.wustl.edu	37	5	140531367	140531367	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140531367A>C	ENST00000231136.1	+	1	1529	c.1529A>C	c.(1528-1530)cAc>cCc	p.H510P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H374P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACGGCCACCTGTTTGCC	0.677																																						dbGAP											0													80.0	84.0	83.0					5																	140531367		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1529A>C	5.37:g.140531367A>C	ENSP00000231136:p.His510Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H510P	ENST00000231136.1	37	c.1529	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	A	8.542	0.873587	0.17322	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01705	4.68;4.68	4.19	4.19	0.49359	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	L	0.42245	1.32	0.09310	N	1	P	0.50272	0.933	P	0.57009	0.811	T	0.45527	-0.9255	9	0.87932	D	0	.	2.4345	0.04479	0.605:0.1572:0.0863:0.1515	.	510	Q9Y5E3	PCDB6_HUMAN	P	374;510;295	ENSP00000438466:H374P;ENSP00000231136:H510P	ENSP00000231136:H510P	H	+	2	0	PCDHB6	140511551	0.000000	0.05858	0.259000	0.24435	0.341000	0.28922	-0.286000	0.08399	1.666000	0.50821	0.454000	0.30748	CAC	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113211		0.677	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	248	0.80	2	A	NM_018939		140531367	140531367	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	missense	157	16.49	31	SNP	0.000	C
PCDHB11	56125	genome.wustl.edu	37	5	140580036	140580036	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140580036T>G	ENST00000354757.3	+	1	689	c.689T>G	c.(688-690)gTg>gGg	p.V230G	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	230	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGTCAGGGTGGTGGTTGTG	0.512																																						dbGAP											0													116.0	116.0	116.0					5																	140580036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.689T>G	5.37:g.140580036T>G	ENSP00000346802:p.Val230Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V230G	ENST00000354757.3	37	c.689	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	T	15.62	2.887980	0.52014	.	.	ENSG00000197479	ENST00000354757	T	0.72835	-0.69	2.7	2.7	0.31948	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.86883	0.6040	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88905	0.3355	9	0.87932	D	0	.	10.6934	0.45884	0.0:0.0:0.0:1.0	.	230	Q9Y5F2	PCDBB_HUMAN	G	230	ENSP00000346802:V230G	ENSP00000346802:V230G	V	+	2	0	PCDHB11	140560220	0.977000	0.34250	0.001000	0.08648	0.005000	0.04900	7.809000	0.86057	1.227000	0.43598	0.383000	0.25322	GTG	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.512	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	163	0.60	1	T	NM_018931		140580036	140580036	+1	no_errors	ENST00000354757	ensembl	human	known	69_37n	missense	103	20.61	27	SNP	0.033	G
PCDHGA11	56105	genome.wustl.edu	37	5	140801420	140801420	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140801420A>C	ENST00000398587.2	+	1	659	c.626A>C	c.(625-627)cAc>cCc	p.H209P	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.H209P|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCTGCTCACCTGCTCCTC	0.532																																						dbGAP											0													46.0	52.0	50.0					5																	140801420		2054	4210	6264	-	-	-	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.626A>C	5.37:g.140801420A>C	ENSP00000381589:p.His209Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H209P	ENST00000398587.2	37	c.626	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	a	14.65	2.600244	0.46423	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.21031	2.03;2.03	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.368803	0.13591	U	0.376566	T	0.59459	0.2195	H	0.96365	3.81	0.09310	N	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.76071	0.95;0.987;0.986	T	0.62872	-0.6762	10	0.59425	D	0.04	.	11.3222	0.49428	0.8642:0.0:0.0:0.1358	.	209;209;209	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	P	209	ENSP00000381589:H209P;ENSP00000428333:H209P	ENSP00000381589:H209P	H	+	2	0	PCDHGA11	140781604	0.010000	0.17322	0.775000	0.31657	0.996000	0.88848	1.668000	0.37481	2.304000	0.77564	0.528000	0.53228	CAC	PCDHGA11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.532	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	71	0.00	0	A	NM_018914		140801420	140801420	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	0.138	C
PCDHGA2	56113	genome.wustl.edu	37	5	140720358	140720358	+	Missense_Mutation	SNP	A	A	C	rs61749022	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140720358A>C	ENST00000394576.2	+	1	1820	c.1820A>C	c.(1819-1821)cAc>cCc	p.H607P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTTACCACCTGCTCAAG	0.697																																						dbGAP											0													59.0	70.0	66.0					5																	140720358		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1820A>C	5.37:g.140720358A>C	ENSP00000378077:p.His607Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H607P	ENST00000394576.2	37	c.1820	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	9.124	1.009625	0.19277	.	.	ENSG00000081853	ENST00000394576	T	0.51325	0.71	5.14	-0.432	0.12291	Cadherin (4);Cadherin-like (1);	0.364425	0.19858	U	0.104495	T	0.55832	0.1945	M	0.84433	2.695	0.19300	N	0.999972	B;P	0.35456	0.134;0.502	B;P	0.46419	0.273;0.516	T	0.55244	-0.8171	10	0.72032	D	0.01	.	5.7981	0.18397	0.3901:0.0:0.4814:0.1285	.	607;607	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	P	607	ENSP00000378077:H607P	ENSP00000378077:H607P	H	+	2	0	PCDHGA2	140700542	0.000000	0.05858	0.897000	0.35233	0.008000	0.06430	0.718000	0.25866	0.000000	0.14550	-1.735000	0.00691	CAC	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081853		0.697	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	137	0.71	1	A	NM_018915		140720358	140720358	+1	no_errors	ENST00000394576	ensembl	human	known	69_37n	missense	123	15.75	23	SNP	0.492	C
PCDHGA5	56110	genome.wustl.edu	37	5	140745244	140745244	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140745244A>C	ENST00000518069.1	+	1	1347	c.1347A>C	c.(1345-1347)ccA>ccC	p.P449P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACCCACCCAATTTCC	0.507																																						dbGAP											0													109.0	114.0	112.0					5																	140745244		1926	4127	6053	-	-	-	SO:0001819	synonymous_variant	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1347A>C	5.37:g.140745244A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P449	ENST00000518069.1	37	c.1347	CCDS54925.1	5																																																																																			PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.507	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	175	0.57	1	A	NM_018918		140745244	140745244	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	silent	150	14.77	26	SNP	0.008	C
PCDHGA6	56109	genome.wustl.edu	37	5	140755001	140755001	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140755001A>C	ENST00000517434.1	+	1	1351	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCCGCCCACCTTCCCCCA	0.512																																						dbGAP											0													140.0	154.0	149.0					5																	140755001		2102	4236	6338	-	-	-	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1351A>C	5.37:g.140755001A>C	ENSP00000429601:p.Thr451Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T451P	ENST00000517434.1	37	c.1351	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	8.193	0.796483	0.16327	.	.	ENSG00000253731	ENST00000517434	T	0.61392	0.11	5.13	-7.6	0.01303	Cadherin (3);Cadherin-like (1);	1.032170	0.07845	U	0.963747	T	0.62514	0.2434	M	0.88241	2.94	0.09310	N	1	P;P	0.47484	0.896;0.833	P;B	0.47299	0.543;0.342	T	0.63686	-0.6581	10	0.66056	D	0.02	.	7.768	0.28991	0.2647:0.0896:0.5571:0.0886	.	451;451	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	P	451	ENSP00000429601:T451P	ENSP00000429601:T451P	T	+	1	0	PCDHGA6	140735185	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	-2.279000	0.01159	-1.644000	0.01517	-0.256000	0.11100	ACC	PCDHGA6	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253731		0.512	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	170	0.00	0	A	NM_018919		140755001	140755001	+1	no_errors	ENST00000517434	ensembl	human	known	69_37n	missense	136	12.74	20	SNP	0.000	C
PCDHGB6	56100	genome.wustl.edu	37	5	140789084	140789084	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140789084A>C	ENST00000520790.1	+	1	1315	c.1315A>C	c.(1315-1317)Acc>Ccc	p.T439P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAAGCATCACCTTGTATGT	0.567																																						dbGAP											0													64.0	71.0	69.0					5																	140789084		2115	4238	6353	-	-	-	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1315A>C	5.37:g.140789084A>C	ENSP00000428603:p.Thr439Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T439P	ENST00000520790.1	37	c.1315	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	a	5.348	0.249510	0.10130	.	.	ENSG00000253305	ENST00000520790	T	0.03441	3.93	5.36	-0.154	0.13399	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.12178	0.0296	M	0.76574	2.34	0.09310	N	1	D;D	0.57899	0.981;0.977	D;P	0.66602	0.945;0.851	T	0.10590	-1.0623	9	0.48119	T	0.1	.	5.9715	0.19355	0.3073:0.0:0.4714:0.2213	.	439;439	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	P	439	ENSP00000428603:T439P	ENSP00000428603:T439P	T	+	1	0	PCDHGB6	140769268	0.000000	0.05858	0.012000	0.15200	0.028000	0.11728	-0.580000	0.05827	0.059000	0.16252	0.460000	0.39030	ACC	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.567	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	61	0.00	0	A	NM_018926		140789084	140789084	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	missense	40	22.64	12	SNP	0.000	C
PCDHGA12	26025	genome.wustl.edu	37	5	140810460	140810460	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140810460T>G	ENST00000252085.3	+	1	276	c.134T>G	c.(133-135)gTg>gGg	p.V45G	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTAGGGTGGGCGACATC	0.632																																						dbGAP											0													73.0	86.0	82.0					5																	140810460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.134T>G	5.37:g.140810460T>G	ENSP00000252085:p.Val45Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V45G	ENST00000252085.3	37	c.134	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	t	22.5	4.291837	0.80914	.	.	ENSG00000253159	ENST00000252085	T	0.55234	0.53	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	D	0.85177	0.5637	H	0.99732	4.735	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91905	0.5535	9	0.87932	D	0	.	15.3641	0.74507	0.0:0.0:0.0:1.0	.	45;45	O60330-2;O60330	.;PCDGC_HUMAN	G	45	ENSP00000252085:V45G	ENSP00000252085:V45G	V	+	2	0	PCDHGA12	140790644	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	7.698000	0.84413	2.115000	0.64714	0.454000	0.30748	GTG	PCDHGA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000253159		0.632	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	66	0.00	0	T	NM_003735		140810460	140810460	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	1.000	G
PCDHGC3	5098	genome.wustl.edu	37	5	140856514	140856514	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140856514T>G	ENST00000308177.3	+	1	935	c.831T>G	c.(829-831)ggT>ggG	p.G277G	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	277	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCAACGGTGAAATTATTT	0.597																																						dbGAP											0													46.0	51.0	49.0					5																	140856514		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.831T>G	5.37:g.140856514T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60622|Q08192|Q9Y5C4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G277	ENST00000308177.3	37	c.831	CCDS4261.1	5																																																																																			PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240184		0.597	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	66	0.00	0	T	NM_002588		140856514	140856514	+1	no_errors	ENST00000308177	ensembl	human	known	69_37n	silent	85	18.87	20	SNP	0.367	G
PCDHGC4	56098	genome.wustl.edu	37	5	140866369	140866369	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140866369A>C	ENST00000306593.1	+	1	1629	c.1629A>C	c.(1627-1629)ccA>ccC	p.P543P	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCAACCCACCCCTTAGCA	0.562																																						dbGAP											0													93.0	94.0	94.0					5																	140866369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1629A>C	5.37:g.140866369A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495T2|Q9Y5C3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P543	ENST00000306593.1	37	c.1629	CCDS4262.1	5																																																																																			PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000242419		0.562	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	210	0.94	2	A	NM_018928		140866369	140866369	+1	no_errors	ENST00000306593	ensembl	human	known	69_37n	silent	126	18.71	29	SNP	0.899	C
PCDHGC5	56097	genome.wustl.edu	37	5	140870230	140870230	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140870230A>C	ENST00000252087.1	+	1	1423	c.1423A>C	c.(1423-1425)Act>Cct	p.T475P	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCTTTGCACTGTGGCTGC	0.532																																						dbGAP											0													129.0	138.0	135.0					5																	140870230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1423A>C	5.37:g.140870230A>C	ENSP00000252087:p.Thr475Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T475P	ENST00000252087.1	37	c.1423	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511114	0.44660	.	.	ENSG00000240764	ENST00000252087	T	0.02552	4.25	5.56	5.56	0.83823	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.12774	0.0310	M	0.88640	2.97	0.33794	D	0.625797	D;P	0.58620	0.983;0.95	P;P	0.58873	0.72;0.847	T	0.13656	-1.0501	10	0.87932	D	0	.	6.1031	0.20059	0.7789:0.0:0.0763:0.1448	.	475;475	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	P	475	ENSP00000252087:T475P	ENSP00000252087:T475P	T	+	1	0	PCDHGC5	140850414	0.002000	0.14202	0.998000	0.56505	0.986000	0.74619	1.475000	0.35409	2.330000	0.79161	0.533000	0.62120	ACT	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000240764		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	384	0.52	2	A	NM_018929		140870230	140870230	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	missense	172	11.34	22	SNP	0.955	C
PCDHGC5	56097	genome.wustl.edu	37	5	140870878	140870878	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:140870878A>C	ENST00000252087.1	+	1	2071	c.2071A>C	c.(2071-2073)Acc>Ccc	p.T691P	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	691					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGACCTTACCCTTTACCT	0.542																																						dbGAP											0													204.0	191.0	195.0					5																	140870878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2071A>C	5.37:g.140870878A>C	ENSP00000252087:p.Thr691Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T691P	ENST00000252087.1	37	c.2071	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182842	0.78677	.	.	ENSG00000240764	ENST00000252087	T	0.55234	0.53	4.7	4.7	0.59300	.	0.000000	0.48767	D	0.000177	T	0.75398	0.3844	M	0.86343	2.81	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80906	-0.1173	10	0.87932	D	0	.	14.3219	0.66491	1.0:0.0:0.0:0.0	.	691;691	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	P	691	ENSP00000252087:T691P	ENSP00000252087:T691P	T	+	1	0	PCDHGC5	140851062	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.485000	0.90448	1.965000	0.57142	0.459000	0.35465	ACC	PCDHGC5	-	NULL	ENSG00000240764		0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	235	0.84	2	A	NM_018929		140870878	140870878	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	missense	106	11.57	14	SNP	1.000	C
PCED1A	64773	genome.wustl.edu	37	20	2816743	2816743	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:2816743T>G	ENST00000360652.2	-	7	1561	c.1059A>C	c.(1057-1059)ccA>ccC	p.P353P	PCED1A_ENST00000356872.3_Silent_p.P302P	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	353																	ATTCATGGGGTGGGAAGGGCT	0.592																																						dbGAP											0													24.0	26.0	25.0					20																	2816743		2198	4291	6489	-	-	-	SO:0001819	synonymous_variant	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1059A>C	20.37:g.2816743T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	superfamily_Esterase_SGNH_hydro-type	p.P353	ENST00000360652.2	37	c.1059	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399554	0.25291	.	.	ENSG00000132635	ENST00000380531	.	.	.	3.77	2.66	0.31614	.	.	.	.	.	T	0.54029	0.1833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46884	-0.9159	4	.	.	.	-6.1341	5.6939	0.17845	0.0:0.1227:0.0:0.8773	.	.	.	.	P	136	.	.	H	-	2	0	FAM113A	2764743	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.768000	0.38511	0.815000	0.34398	0.454000	0.30748	CAC	PCED1A	-	NULL	ENSG00000132635		0.592	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	28	0.00	0	T	NM_022760		2816743	2816743	-1	no_errors	ENST00000360652	ensembl	human	known	69_37n	silent	34	23.91	11	SNP	1.000	G
PCGF5	84333	genome.wustl.edu	37	10	93011092	93011092	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:93011092T>G	ENST00000336126.5	+	6	601	c.369T>G	c.(367-369)ggT>ggG	p.G123G	PCGF5_ENST00000543648.1_Silent_p.G123G	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						ATGAAGAAGGTGATGAAAATG	0.313																																					Colon(178;732 2696 46441 50370)	dbGAP											0													115.0	109.0	111.0					10																	93011092		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.369T>G	10.37:g.93011092T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G123	ENST00000336126.5	37	c.369	CCDS7413.1	10																																																																																			PCGF5	-	NULL	ENSG00000180628		0.313	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	247	0.40	1	T	NM_032373		93011092	93011092	+1	no_errors	ENST00000336126	ensembl	human	known	69_37n	silent	140	15.66	26	SNP	1.000	G
PCID2	55795	genome.wustl.edu	37	13	113845123	113845123	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:113845123T>G	ENST00000337344.4	-	7	544				PCID2_ENST00000246505.5_Intron|PCID2_ENST00000375459.1_Intron|PCID2_ENST00000493650.1_5'Flank|PCID2_ENST00000375457.2_Intron|PCID2_ENST00000375479.2_Intron|PCID2_ENST00000375477.1_Intron	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			ccagaaagggtgaacgCTGCA	0.428																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.467+62A>C	13.37:g.113845123T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	RNA	SNP	-	NULL	ENST00000337344.4	37	NULL	CCDS9532.2	13																																																																																			PCID2	-	-	ENSG00000126226		0.428	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	27	0.00	0	T	NM_018386		113845123	113845123	-1	no_errors	ENST00000491548	ensembl	human	known	69_37n	rna	34	27.66	13	SNP	0.000	G
PCLO	27445	genome.wustl.edu	37	7	82580307	82580307	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:82580307A>C	ENST00000333891.9	-	6	9934	c.9597T>G	c.(9595-9597)agT>agG	p.S3199R	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.S3199R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAAAAGAGCACTTTCATCTC	0.448																																						dbGAP											0													52.0	49.0	50.0					7																	82580307		1888	4129	6017	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9597T>G	7.37:g.82580307A>C	ENSP00000334319:p.Ser3199Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S3199R	ENST00000333891.9	37	c.9597	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	4.147	0.025635	0.08054	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	5.33	1.86	0.25419	.	.	.	.	.	T	0.13457	0.0326	L	0.46157	1.445	0.09310	N	1	B;P;P	0.40107	0.037;0.703;0.703	B;B;B	0.36989	0.022;0.238;0.238	T	0.22452	-1.0216	9	0.87932	D	0	.	3.7796	0.08674	0.5501:0.0:0.2924:0.1575	.	3130;3199;3199	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	3130;3199;3199	ENSP00000334319:S3199R;ENSP00000388393:S3199R	ENSP00000334319:S3199R	S	-	3	2	PCLO	82418243	0.000000	0.05858	0.870000	0.34147	0.947000	0.59692	0.109000	0.15417	0.922000	0.37019	0.260000	0.18958	AGT	PCLO	-	NULL	ENSG00000186472		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	114	0.00	0	A	NM_014510		82580307	82580307	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	66	19.28	16	SNP	0.004	C
PCLO	27445	genome.wustl.edu	37	7	82582445	82582445	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:82582445T>G	ENST00000333891.9	-	5	8161	c.7824A>C	c.(7822-7824)tcA>tcC	p.S2608S	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.S2608S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTGGAGGGTGATCCCAAGG	0.433																																						dbGAP											0													135.0	128.0	130.0					7																	82582445		1859	4107	5966	-	-	-	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7824A>C	7.37:g.82582445T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S2608	ENST00000333891.9	37	c.7824	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	247	0.00	0	T	NM_014510		82582445	82582445	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	silent	175	16.19	34	SNP	0.980	G
PCLO	27445	genome.wustl.edu	37	7	82764193	82764193	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:82764193T>G	ENST00000333891.9	-	3	3010	c.2673A>C	c.(2671-2673)acA>acC	p.T891T	PCLO_ENST00000423517.2_Silent_p.T891T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTTGAGGTGTGGGGACAG	0.532																																						dbGAP											0													196.0	196.0	196.0					7																	82764193		1985	4160	6145	-	-	-	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2673A>C	7.37:g.82764193T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.T891	ENST00000333891.9	37	c.2673	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	327	0.30	1	T	NM_014510		82764193	82764193	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	silent	242	13.88	39	SNP	0.000	G
PCNT	5116	genome.wustl.edu	37	21	47746323	47746323	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:47746323T>G	ENST00000359568.5	+	2	194	c.87T>G	c.(85-87)ggT>ggG	p.G29G	C21orf58_ENST00000397685.4_5'Flank|PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000291691.7_5'Flank|C21orf58_ENST00000397682.3_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	29					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAACAAAAGGTGACAGTTCGC	0.478																																						dbGAP											0													74.0	65.0	68.0					21																	47746323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.87T>G	21.37:g.47746323T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.G29	ENST00000359568.5	37	c.87	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.478	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	57	0.00	0	T	NM_006031		47746323	47746323	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	silent	49	18.03	11	SNP	1.000	G
PCNT	5116	genome.wustl.edu	37	21	47860954	47860954	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:47860954A>C	ENST00000359568.5	+	43	9687	c.9580A>C	c.(9580-9582)Acc>Ccc	p.T3194P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3194	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCGTCCTTTCACCAGGTTCCG	0.507																																						dbGAP											0													92.0	81.0	85.0					21																	47860954		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9580A>C	21.37:g.47860954A>C	ENSP00000352572:p.Thr3194Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.T3194P	ENST00000359568.5	37	c.9580	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438540	0.62955	.	.	ENSG00000160299	ENST00000359568	T	0.02236	4.38	6.07	6.07	0.98685	Pericentrin/AKAP-450 centrosomal targeting domain (1);	0.249761	0.21051	N	0.080986	T	0.08758	0.0217	L	0.55990	1.75	0.09310	N	1	P;P	0.51537	0.934;0.946	P;P	0.58454	0.751;0.839	T	0.03503	-1.1030	10	0.87932	D	0	.	15.81	0.78552	1.0:0.0:0.0:0.0	.	2997;3194	O95613-2;O95613	.;PCNT_HUMAN	P	3194	ENSP00000352572:T3194P	ENSP00000352572:T3194P	T	+	1	0	PCNT	46685382	0.969000	0.33509	0.051000	0.19133	0.016000	0.09150	4.644000	0.61397	2.326000	0.78906	0.533000	0.62120	ACC	PCNT	-	pfam_PACT_domain	ENSG00000160299		0.507	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	48	0.00	0	A	NM_006031		47860954	47860954	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	0.068	C
PCNX	22990	genome.wustl.edu	37	14	71572125	71572125	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:71572125A>C	ENST00000304743.2	+	33	6715	c.6269A>C	c.(6268-6270)cAc>cCc	p.H2090P	PCNX_ENST00000238570.5_Missense_Mutation_p.H2018P|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.H1979P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2090						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTGGACTCCACCCACCTGTC	0.463																																						dbGAP											0													124.0	104.0	111.0					14																	71572125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6269A>C	14.37:g.71572125A>C	ENSP00000304192:p.His2090Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.H2090P	ENST00000304743.2	37	c.6269	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.054|9.054	0.992868|0.992868	0.18966|0.18966	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.09630|.	3.4;3.42;2.96|.	5.43|5.43	4.29|4.29	0.51040|0.51040	.|.	0.204155|.	0.34268|.	N|.	0.004113|.	T|T	0.39989|0.39989	0.1099|0.1099	L|L	0.40543|0.40543	1.245|1.245	0.26635|0.26635	N|N	0.972396|0.972396	B;B;B|.	0.24533|.	0.073;0.105;0.105|.	B;B;B|.	0.22601|.	0.037;0.04;0.04|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.34782|.	T|.	0.22|.	.|.	10.9632|10.9632	0.47397|0.47397	0.927:0.0:0.073:0.0|0.927:0.0:0.073:0.0	.|.	2018;1979;2090|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|P	2090;2018;1979|1077	ENSP00000304192:H2090P;ENSP00000238570:H2018P;ENSP00000396617:H1979P|.	ENSP00000238570:H2018P|.	H|T	+|+	2|1	0|0	PCNX|PCNX	70641878|70641878	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.087000|0.087000	0.18053|0.18053	4.515000|4.515000	0.60489|0.60489	0.905000|0.905000	0.36596|0.36596	0.533000|0.533000	0.62120|0.62120	CAC|ACC	PCNX	-	NULL	ENSG00000100731		0.463	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	61	0.00	0	A	NM_014982		71572125	71572125	+1	no_errors	ENST00000304743	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	0.998	C
PCNXL2	80003	genome.wustl.edu	37	1	233394091	233394091	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:233394091A>C	ENST00000258229.9	-	5	1751	c.1517T>G	c.(1516-1518)gTg>gGg	p.V506G	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	506						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCTTCCCCACCTTAGACTC	0.562																																						dbGAP											0													73.0	74.0	74.0					1																	233394091		2025	4186	6211	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1517T>G	1.37:g.233394091A>C	ENSP00000258229:p.Val506Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.V506G	ENST00000258229.9	37	c.1517	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	A	8.011	0.757597	0.15846	.	.	ENSG00000135749	ENST00000258229	T	0.08370	3.1	5.06	-7.38	0.01407	.	.	.	.	.	T	0.04048	0.0113	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47289	-0.9129	9	0.20046	T	0.44	.	12.5619	0.56286	0.6483:0.1234:0.2283:0.0	.	506	A6NKB5	PCX2_HUMAN	G	506	ENSP00000258229:V506G	ENSP00000258229:V506G	V	-	2	0	PCNXL2	231460714	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.505000	0.02273	-0.938000	0.03714	-1.119000	0.02030	GTG	PCNXL2	-	NULL	ENSG00000135749		0.562	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	71	0.00	0	A	NM_014801		233394091	233394091	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	100	23.31	31	SNP	0.000	C
PCNXL4	64430	genome.wustl.edu	37	14	60585251	60585251	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:60585251A>C	ENST00000406854.1	+	7	2337	c.1783A>C	c.(1783-1785)Acc>Ccc	p.T595P	PCNXL4_ENST00000404681.2_Missense_Mutation_p.T595P|PCNXL4_ENST00000317623.4_Missense_Mutation_p.T361P|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.T361P			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	595						integral component of membrane (GO:0016021)											CCCTCTTTTCACCCTTCCTGT	0.463																																						dbGAP											0													87.0	84.0	85.0					14																	60585251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1783A>C	14.37:g.60585251A>C	ENSP00000384801:p.Thr595Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.T595P	ENST00000406854.1	37	c.1783		14	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797526	0.90538	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.31769	1.57;1.58;1.48;1.58	6.0	6.0	0.97389	.	.	.	.	.	T	0.56934	0.2019	M	0.78637	2.42	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.68353	0.905;0.957	T	0.58267	-0.7666	9	0.48119	T	0.1	.	16.5075	0.84276	1.0:0.0:0.0:0.0	.	595;361	Q63HM2;B5MC47	CN135_HUMAN;.	P	361;595;361;595	ENSP00000317396:T361P;ENSP00000384801:T595P;ENSP00000385201:T361P;ENSP00000385713:T595P	ENSP00000317396:T361P	T	+	1	0	C14orf135	59655004	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	6.891000	0.75639	2.302000	0.77476	0.528000	0.53228	ACC	PCNXL4	-	NULL	ENSG00000126773		0.463	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	56	0.00	0	A	NM_022495		60585251	60585251	+1	no_errors	ENST00000404681	ensembl	human	known	69_37n	missense	59	19.18	14	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78686782	78686782	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:78686782A>C	ENST00000545128.1	+	7	1400	c.862A>C	c.(862-864)Acc>Ccc	p.T288P	PCSK5_ENST00000376752.4_Missense_Mutation_p.T288P|PCSK5_ENST00000376767.3_Missense_Mutation_p.T288P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	288	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCCCCCCTCACCCGGCAAGC	0.507																																						dbGAP											0													118.0	124.0	122.0					9																	78686782		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.862A>C	9.37:g.78686782A>C	ENSP00000446280:p.Thr288Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.T288P	ENST00000545128.1	37	c.862	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076853	0.76415	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.87887	-2.31;-2.31;-2.31	5.57	5.57	0.84162	.	.	.	.	.	D	0.91304	0.7258	M	0.81112	2.525	0.40545	D	0.981065	P;D	0.57257	0.69;0.979	P;P	0.59825	0.596;0.864	D	0.92207	0.5773	9	0.87932	D	0	.	7.9323	0.29909	0.8413:0.0:0.1587:0.0	.	288;288	Q92824-2;B1AMG5	.;.	P	288	ENSP00000446280:T288P;ENSP00000365958:T288P;ENSP00000365943:T288P	ENSP00000365943:T288P	T	+	1	0	PCSK5	77876602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.719000	0.68462	2.120000	0.65058	0.482000	0.46254	ACC	PCSK5	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000099139		0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		218	0.45	1	A			78686782	78686782	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	245	15.41	45	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78774015	78774015	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:78774015A>C	ENST00000545128.1	+	12	2085	c.1547A>C	c.(1546-1548)cAc>cCc	p.H516P	PCSK5_ENST00000376752.4_Missense_Mutation_p.H516P|PCSK5_ENST00000376767.3_Missense_Mutation_p.H516P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	516					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACCATCACCCACCCCAGGAGA	0.582																																						dbGAP											0													164.0	132.0	143.0					9																	78774015		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1547A>C	9.37:g.78774015A>C	ENSP00000446280:p.His516Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.H516P	ENST00000545128.1	37	c.1547	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932438	0.92458	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	H	0.97051	3.93	0.80722	D	1	B;B	0.32338	0.164;0.365	B;P	0.47015	0.2;0.534	D	0.92296	0.5845	10	0.72032	D	0.01	-30.1857	16.8061	0.85666	1.0:0.0:0.0:0.0	.	516;516	Q92824-2;B1AMG5	.;.	P	516;219;516;516;516;189	ENSP00000446280:H516P;ENSP00000365958:H516P;ENSP00000365943:H516P;ENSP00000411654:H189P	ENSP00000365943:H516P	H	+	2	0	PCSK5	77963835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.367000	0.80283	0.528000	0.53228	CAC	PCSK5	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000099139		0.582	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		223	0.88	2	A			78774015	78774015	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	178	19.64	44	SNP	1.000	C
PCSK9	255738	genome.wustl.edu	37	1	55512285	55512285	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:55512285T>C	ENST00000302118.5	+	3	779	c.489T>C	c.(487-489)ccT>ccC	p.P163P	PCSK9_ENST00000452118.2_Silent_p.P163P|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	163					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGATTACCCCTCCACGGTACC	0.612																																					Pancreas(137;1454 1827 5886 22361 42375)	dbGAP											0													72.0	71.0	71.0					1																	55512285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.489T>C	1.37:g.55512285T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	pfam_Peptidase_S8/S53,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.P163	ENST00000302118.5	37	c.489	CCDS603.1	1																																																																																			PCSK9	-	superfamily_Peptidase_S8/S53	ENSG00000169174		0.612	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1	39	0.00	0	T	NM_174936		55512285	55512285	+1	no_errors	ENST00000302118	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	0.000	C
PDE4C	5143	genome.wustl.edu	37	19	18331221	18331221	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:18331221A>G	ENST00000355502.3	-	10	1571	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P	PDE4C_ENST00000539010.1_Missense_Mutation_p.S3P|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000262805.12_Missense_Mutation_p.S202P|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.S234P|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.S234P|PDE4C_ENST00000447275.3_Missense_Mutation_p.S128P			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	234					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACCTTGTTGGAGGCCATCTCC	0.642																																						dbGAP											0													97.0	76.0	83.0					19																	18331221		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.700T>C	19.37:g.18331221A>G	ENSP00000347689:p.Ser234Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.S234P	ENST00000355502.3	37	c.700	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729726	0.89390	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.74209	-0.82;-0.8;-0.77;-0.47	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	M	0.92555	3.32	0.42460	D	0.992782	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.983	D	0.90654	0.4585	10	0.87932	D	0	.	11.7664	0.51933	1.0:0.0:0.0:0.0	.	234;202	Q08493;Q08493-3	PDE4C_HUMAN;.	P	313;234;222;202;128;3;3;343	ENSP00000347689:S234P;ENSP00000262805:S202P;ENSP00000402091:S128P;ENSP00000439470:S3P	ENSP00000262805:S202P	S	-	1	0	PDE4C	18192221	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	8.624000	0.90961	1.684000	0.51022	0.398000	0.26397	TCC	PDE4C	-	NULL	ENSG00000105650		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	60	0.00	0	A			18331221	18331221	-1	no_errors	ENST00000355502	ensembl	human	known	69_37n	missense	26	12.90	4	SNP	1.000	G
PDE4D	5144	genome.wustl.edu	37	5	58270654	58270654	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:58270654A>C	ENST00000340635.6	-	15	2442	c.2267T>G	c.(2266-2268)gTg>gGg	p.V756G	PDE4D_ENST00000502484.2_Missense_Mutation_p.V695G|PDE4D_ENST00000317118.8_Missense_Mutation_p.V465G|PDE4D_ENST00000360047.5_Missense_Mutation_p.V620G|PDE4D_ENST00000358923.6_Missense_Mutation_p.V454G|PDE4D_ENST00000546160.1_Missense_Mutation_p.V695G|PDE4D_ENST00000405755.2_Missense_Mutation_p.V634G|PDE4D_ENST00000503258.1_Missense_Mutation_p.V626G|PDE4D_ENST00000507116.1_Missense_Mutation_p.V692G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	756					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTCTTCTTCCACTTGACTGCC	0.478																																						dbGAP											0													264.0	270.0	268.0					5																	58270654		1992	4157	6149	-	-	-	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2267T>G	5.37:g.58270654A>C	ENSP00000345502:p.Val756Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.V756G	ENST00000340635.6	37	c.2267	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	A	9.373	1.071034	0.20147	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.17;-0.18;0.04;0.03;-0.18;-0.18;-0.17;-0.17	5.22	5.22	0.72569	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.227351	0.38005	N	0.001850	T	0.41903	0.1179	N	0.08118	0	0.80722	D	1	P;P;B;B;B;B;B;B	0.37466	0.557;0.596;0.11;0.0;0.0;0.403;0.0;0.0	B;B;B;B;B;B;B;B	0.36289	0.221;0.154;0.109;0.0;0.001;0.221;0.002;0.002	T	0.40720	-0.9548	10	0.22706	T	0.39	.	15.2543	0.73573	1.0:0.0:0.0:0.0	.	695;756;692;619;634;626;531;465	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	G	756;625;620;692;454;465;626;634;695;695	ENSP00000345502:V756G;ENSP00000353152:V620G;ENSP00000424852:V692G;ENSP00000351800:V454G;ENSP00000321739:V465G;ENSP00000425605:V626G;ENSP00000384806:V634G;ENSP00000423094:V695G;ENSP00000442734:V695G	ENSP00000321739:V465G	V	-	2	0	PDE4D	58306411	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	6.179000	0.71974	2.202000	0.70862	0.533000	0.62120	GTG	PDE4D	-	NULL	ENSG00000113448		0.478	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	403	0.25	1	A			58270654	58270654	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	missense	285	15.93	54	SNP	1.000	C
PDE4DIP	9659	genome.wustl.edu	37	1	144952330	144952330	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:144952330A>C	ENST00000369354.3	-	4	578	c.389T>G	c.(388-390)gTg>gGg	p.V130G	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.V267G|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.V130G|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.V130G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V267G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V267G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V130G|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.V130G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V196G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	130					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTGCTTCCACCAGAGCTGC	0.493			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													15.0	16.0	16.0					1																	144952330		2179	4252	6431	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.389T>G	1.37:g.144952330A>C	ENSP00000358360:p.Val130Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.V130G	ENST00000369354.3	37	c.389	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512989	0.27123	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	T;T;T;T;T;T;T;T;T;T;T	0.48201	4.74;4.8;4.83;4.84;4.84;3.8;3.81;1.9;1.9;3.02;0.82	4.78	3.66	0.41972	.	.	.	.	.	T	0.47746	0.1462	M	0.65975	2.015	0.80722	D	1	B;P;D	0.63046	0.288;0.951;0.992	B;P;P	0.59825	0.147;0.794;0.864	T	0.52983	-0.8502	9	0.72032	D	0.01	.	8.4539	0.32888	0.9069:0.0:0.0931:0.0	.	130;196;130	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	G	196;130;130;267;267;130;130;196;133;130;267;53	ENSP00000327209:V196G;ENSP00000358360:V130G;ENSP00000358363:V130G;ENSP00000435654:V267G;ENSP00000358366:V267G;ENSP00000358357:V130G;ENSP00000358355:V130G;ENSP00000435920:V133G;ENSP00000358353:V130G;ENSP00000358354:V267G;ENSP00000437202:V53G	ENSP00000327209:V196G	V	-	2	0	PDE4DIP	143663687	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.759000	0.47573	0.866000	0.35629	0.459000	0.35465	GTG	PDE4DIP	-	NULL	ENSG00000178104		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	118	0.00	0	A	NM_022359		144952330	144952330	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	227	25.00	76	SNP	1.000	C
PDE6A	5145	genome.wustl.edu	37	5	149276326	149276326	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:149276326A>C	ENST00000255266.5	-	11	1540	c.1421T>G	c.(1420-1422)gTg>gGg	p.V474G		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	474					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTTCCCATACACCTCTCTGGT	0.517																																						dbGAP											0													138.0	134.0	135.0					5																	149276326		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1421T>G	5.37:g.149276326A>C	ENSP00000255266:p.Val474Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.V474G	ENST00000255266.5	37	c.1421	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979508	0.34942	.	.	ENSG00000132915	ENST00000255266	T	0.62639	0.01	5.9	4.74	0.60224	.	0.445741	0.23377	N	0.048856	T	0.53433	0.1796	L	0.51422	1.61	0.37380	D	0.911992	B	0.19583	0.037	B	0.20184	0.028	T	0.51942	-0.8641	10	0.22109	T	0.4	.	10.2191	0.43186	0.9218:0.0:0.0782:0.0	.	474	P16499	PDE6A_HUMAN	G	474	ENSP00000255266:V474G	ENSP00000255266:V474G	V	-	2	0	PDE6A	149256519	0.002000	0.14202	0.996000	0.52242	0.994000	0.84299	0.674000	0.25218	1.058000	0.40530	0.533000	0.62120	GTG	PDE6A	-	NULL	ENSG00000132915		0.517	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	262	0.00	0	A			149276326	149276326	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	missense	173	14.36	29	SNP	0.344	C
PDIA4	9601	genome.wustl.edu	37	7	148702370	148702370	+	Missense_Mutation	SNP	A	A	C	rs201337580		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:148702370A>C	ENST00000286091.4	-	9	1617	c.1385T>G	c.(1384-1386)gTg>gGg	p.V462G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	462					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CAGGTCCTTCACCTCCCCAGC	0.567											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1	0.000199681	0.0	0.0	5008	,	,		19540	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													201.0	166.0	178.0					7																	148702370		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1385T>G	7.37:g.148702370A>C	ENSP00000286091:p.Val462Gly	Somatic	1719	WXS	Illumina GAIIx	Phase_IV	A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.V462G	ENST00000286091.4	37	c.1385	CCDS5893.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	26.1	4.705507	0.89018	.	.	ENSG00000155660	ENST00000286091	T	0.32753	1.44	5.24	5.24	0.73138	Thioredoxin-like fold (1);	0.315206	0.32578	N	0.005916	T	0.46210	0.1381	L	0.60455	1.87	0.80722	D	1	P	0.44241	0.829	P	0.53490	0.727	T	0.44817	-0.9303	10	0.66056	D	0.02	.	15.1702	0.72865	1.0:0.0:0.0:0.0	.	462	P13667	PDIA4_HUMAN	G	462	ENSP00000286091:V462G	ENSP00000286091:V462G	V	-	2	0	PDIA4	148333303	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.003000	0.93577	1.981000	0.57761	0.533000	0.62120	GTG	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.567	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	93	0.00	0	A	NM_004911		148702370	148702370	-1	no_errors	ENST00000286091	ensembl	human	known	69_37n	missense	53	24.29	17	SNP	1.000	C
PDP2	57546	genome.wustl.edu	37	16	66919467	66919467	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:66919467T>G	ENST00000311765.2	+	2	1614	c.1280T>G	c.(1279-1281)gTg>gGg	p.V427G	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	427					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTAAGGCTGGTGGTGGGGCAC	0.607																																						dbGAP											0													80.0	74.0	76.0					16																	66919467		2200	4300	6500	-	-	-	SO:0001583	missense	0			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1280T>G	16.37:g.66919467T>G	ENSP00000309548:p.Val427Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K924	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.V427G	ENST00000311765.2	37	c.1280	CCDS10822.1	16	.	.	.	.	.	.	.	.	.	.	T	13.94	2.388398	0.42308	.	.	ENSG00000172840	ENST00000311765	T	0.25085	1.82	5.68	5.68	0.88126	Protein phosphatase 2C-like (5);	0.133523	0.49305	D	0.000145	T	0.56277	0.1974	M	0.93016	3.37	0.80722	D	1	D	0.63046	0.992	P	0.62560	0.904	T	0.66941	-0.5796	10	0.87932	D	0	-18.8994	11.8433	0.52368	0.0:0.0703:0.0:0.9297	.	427	Q9P2J9	PDP2_HUMAN	G	427	ENSP00000309548:V427G	ENSP00000309548:V427G	V	+	2	0	PDP2	65476968	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	5.131000	0.64751	2.171000	0.68590	0.533000	0.62120	GTG	PDP2	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000172840		0.607	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDP2	HGNC	protein_coding	OTTHUMT00000268831.2	66	0.00	0	T	NM_020786		66919467	66919467	+1	no_errors	ENST00000311765	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	0.999	G
PDS5A	23244	genome.wustl.edu	37	4	39871074	39871074	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:39871074A>C	ENST00000303538.8	-	22	2984	c.2445T>G	c.(2443-2445)ggT>ggG	p.G815G		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATTCTTTTCACCTGTTGACT	0.318																																						dbGAP											0													153.0	145.0	147.0					4																	39871074		1809	4080	5889	-	-	-	SO:0001819	synonymous_variant	0			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2445T>G	4.37:g.39871074A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_ARM-type_fold	p.G815	ENST00000303538.8	37	c.2445	CCDS47045.1	4																																																																																			PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.318	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	216	0.00	0	A	NM_015200		39871074	39871074	-1	no_errors	ENST00000303538	ensembl	human	known	69_37n	silent	203	16.12	39	SNP	1.000	C
PDZD2	23037	genome.wustl.edu	37	5	31983723	31983723	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:31983723T>G	ENST00000438447.1	+	3	1327	c.939T>G	c.(937-939)ggT>ggG	p.G313G	PDZD2_ENST00000282493.3_Silent_p.G313G			O15018	PDZD2_HUMAN	PDZ domain containing 2	313					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTCAAAAGGTGGGAAGACGG	0.448																																						dbGAP											0													96.0	101.0	99.0					5																	31983723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.939T>G	5.37:g.31983723T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G313	ENST00000438447.1	37	c.939	CCDS34137.1	5																																																																																			PDZD2	-	superfamily_PDZ	ENSG00000133401		0.448	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	153	0.00	0	T			31983723	31983723	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	silent	202	12.66	30	SNP	0.997	G
PDZK1	5174	genome.wustl.edu	37	1	145748518	145748518	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:145748518A>C	ENST00000344770.2	+	3	464	c.391A>C	c.(391-393)Acc>Ccc	p.T131P	PDZK1_ENST00000451928.2_Missense_Mutation_p.T131P|PDZK1_ENST00000417171.1_Missense_Mutation_p.T131P	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	131					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GCAAACTTGGACCCAGCCCCG	0.502																																						dbGAP											0													49.0	54.0	52.0					1																	145748518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.391A>C	1.37:g.145748518A>C	ENSP00000342143:p.Thr131Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T131P	ENST00000344770.2	37	c.391	CCDS924.1	1	.	.	.	.	.	.	.	.	.	.	A	3.814	-0.039201	0.07497	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;T;T	0.31769	1.48;1.61;1.57;1.61	5.84	-1.87	0.07737	PDZ/DHR/GLGF (1);	0.770991	0.12071	N	0.502241	T	0.04497	0.0123	N	0.05383	-0.06	0.09310	N	1	P;B	0.35033	0.481;0.0	B;B	0.36030	0.216;0.001	T	0.35871	-0.9771	10	0.27785	T	0.31	-12.3363	6.5238	0.22289	0.4658:0.137:0.3972:0.0	.	131;131	E7EU02;Q5T2W1	.;NHRF3_HUMAN	P	131	ENSP00000409291:T131P;ENSP00000394485:T131P;ENSP00000403422:T131P;ENSP00000342143:T131P	ENSP00000342143:T131P	T	+	1	0	PDZK1	144459875	0.494000	0.26043	0.035000	0.18076	0.190000	0.23558	0.106000	0.15354	-0.332000	0.08489	0.482000	0.46254	ACC	PDZK1	-	superfamily_PDZ	ENSG00000174827		0.502	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	54	0.00	0	A	NM_002614		145748518	145748518	+1	no_errors	ENST00000344770	ensembl	human	known	69_37n	missense	130	14.38	22	SNP	0.002	C
PEG3	5178	genome.wustl.edu	37	19	57327918	57327918	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:57327918A>C	ENST00000326441.9	-	10	2255	c.1892T>G	c.(1891-1893)gTg>gGg	p.V631G	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.V505G|PEG3_ENST00000423103.2_Missense_Mutation_p.V631G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.V507G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	631					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCCCCACACACCTTACATTC	0.448																																						dbGAP											0													100.0	97.0	98.0					19																	57327918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1892T>G	19.37:g.57327918A>C	ENSP00000326581:p.Val631Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V631G	ENST00000326441.9	37	c.1892	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244949	0.22796	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.50548	0.74;0.74	4.14	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.586195	0.14324	N	0.326800	T	0.53981	0.1830	L	0.48935	1.535	.	.	.	P;D;D	0.89917	0.846;1.0;1.0	P;D;D	0.91635	0.549;0.998;0.999	T	0.57700	-0.7766	9	0.54805	T	0.06	-12.9539	2.6973	0.05138	0.5985:0.0:0.209:0.1925	.	507;631;566	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	631	ENSP00000326581:V631G;ENSP00000403051:V631G	ENSP00000326581:V631G	V	-	2	0	ZIM2	62019730	0.000000	0.05858	0.063000	0.19743	0.837000	0.47467	0.467000	0.22035	0.408000	0.25621	0.528000	0.53228	GTG	PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	172	0.00	0	A			57327918	57327918	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	137	14.72	24	SNP	0.000	C
PELP1	27043	genome.wustl.edu	37	17	4578144	4578144	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:4578144T>G	ENST00000574876.1	-	12	1399	c.1382A>C	c.(1381-1383)cAc>cCc	p.H461P	PELP1_ENST00000572293.1_Missense_Mutation_p.H511P|PELP1_ENST00000301396.4_Missense_Mutation_p.H605P|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.H314P|PELP1_ENST00000269230.7_Missense_Mutation_p.H459P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	461					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGAGCAGGTGGGTGAGCAG	0.612																																						dbGAP											0													56.0	66.0	62.0					17																	4578144		2087	4199	6286	-	-	-	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1382A>C	17.37:g.4578144T>G	ENSP00000461625:p.His461Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.H605P	ENST00000574876.1	37	c.1814	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371264	0.42003	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.52295	0.67;0.75;1.32	5.19	5.19	0.71726	Uncharacterised domain NUC202 (1);	0.055950	0.64402	D	0.000001	T	0.53594	0.1806	N	0.24115	0.695	0.41422	D	0.987803	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.58769	-0.7578	10	0.66056	D	0.02	-20.5183	13.0428	0.58910	0.0:0.0:0.0:1.0	.	314;461	E7EV54;Q8IZL8	.;PELP1_HUMAN	P	605;459;314	ENSP00000301396:H605P;ENSP00000269230:H459P;ENSP00000416231:H314P	ENSP00000269230:H459P	H	-	2	0	AC091153.1	4524893	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.265000	0.72534	2.183000	0.69458	0.533000	0.62120	CAC	PELP1	-	pfam_Uncharacterised_NUC202	ENSG00000141456		0.612	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	97	0.00	0	T	NM_014389		4578144	4578144	-1	no_errors	ENST00000301396	ensembl	human	known	69_37n	missense	92	19.30	22	SNP	1.000	G
PENK	5179	genome.wustl.edu	37	8	57353947	57353947	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:57353947A>C	ENST00000314922.3	-	2	764	c.688T>G	c.(688-690)Tat>Gat	p.Y230D	PENK_ENST00000451791.2_Missense_Mutation_p.Y230D|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	230					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AAACCTCCATACCGTTTCTGG	0.522																																						dbGAP											0													91.0	94.0	93.0					8																	57353947		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.688T>G	8.37:g.57353947A>C	ENSP00000324248:p.Tyr230Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.Y230D	ENST00000314922.3	37	c.688	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615246	0.66672	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.18960	2.18;2.18	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.52108	0.1714	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59037	-0.7529	10	0.87932	D	0	-22.8169	15.5295	0.75942	1.0:0.0:0.0:0.0	.	230	P01210	PENK_HUMAN	D	230	ENSP00000324248:Y230D;ENSP00000400894:Y230D	ENSP00000324248:Y230D	Y	-	1	0	PENK	57516501	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	6.846000	0.75399	2.254000	0.74563	0.533000	0.62120	TAT	PENK	-	NULL	ENSG00000181195		0.522	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	141	0.00	0	A			57353947	57353947	-1	no_errors	ENST00000314922	ensembl	human	known	69_37n	missense	113	11.02	14	SNP	0.955	C
PER3	8863	genome.wustl.edu	37	1	7886709	7886709	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:7886709A>C	ENST00000361923.2	+	16	2278	c.2103A>C	c.(2101-2103)tcA>tcC	p.S701S	PER3_ENST00000377532.3_Silent_p.S709S|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	701	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGTCATCACCCTACAGCT	0.388																																						dbGAP											0													63.0	58.0	59.0					1																	7886709		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2103A>C	1.37:g.7886709A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.S701	ENST00000361923.2	37	c.2103	CCDS89.1	1																																																																																			PER3	-	NULL	ENSG00000049246		0.388	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	108	0.00	0	A	NM_016831		7886709	7886709	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	silent	60	22.08	17	SNP	0.025	C
PER3	8863	genome.wustl.edu	37	1	7887705	7887705	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:7887705A>C	ENST00000361923.2	+	17	2867	c.2692A>C	c.(2692-2694)Acc>Ccc	p.T898P	PER3_ENST00000377532.3_Missense_Mutation_p.T906P|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	898					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTCAGTCACCAGCCAAAG	0.532																																						dbGAP											0													82.0	82.0	82.0					1																	7887705		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2692A>C	1.37:g.7887705A>C	ENSP00000355031:p.Thr898Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.T898P	ENST00000361923.2	37	c.2692	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146216	0.37923	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.09911	2.93;2.93	4.31	-7.79	0.01218	.	3.099580	0.01452	N	0.015522	T	0.06645	0.0170	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.50528	0.828;0.936;0.893;0.828	B;B;P;B	0.45310	0.284;0.284;0.476;0.284	T	0.37709	-0.9694	10	0.28530	T	0.3	.	1.1931	0.01869	0.1848:0.3153:0.2826:0.2173	.	898;906;906;898	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	P	906;898;109	ENSP00000366755:T906P;ENSP00000355031:T898P	ENSP00000355031:T898P	T	+	1	0	PER3	7810292	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.377000	0.07456	-1.210000	0.02627	0.454000	0.30748	ACC	PER3	-	NULL	ENSG00000049246		0.532	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	172	0.00	0	A	NM_016831		7887705	7887705	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	missense	121	19.21	29	SNP	0.000	C
GATB	5188	genome.wustl.edu	37	4	152637189	152637189	+	Silent	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:152637189G>A	ENST00000263985.6	-	5	775	c.735C>T	c.(733-735)gcC>gcT	p.A245A	PET112_ENST00000512306.1_Silent_p.A245A|PET112_ENST00000515812.1_Intron	NM_004564.2	NP_004555.1														breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TGGTCCCCAGGGCTTGAAGGA	0.567																																						dbGAP											0													57.0	53.0	54.0					4																	152637189		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000263985.6:c.735C>T	4.37:g.152637189G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Gln-tRNA_amidoTrfase_bsu	p.A245	ENST00000263985.6	37	c.735	CCDS3776.1	4																																																																																			PET112	-	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Gln-tRNA_amidoTrfase_bsu	ENSG00000059691		0.567	PET112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365671.1	45	0.00	0	G			152637189	152637189	-1	no_errors	ENST00000263985	ensembl	human	known	69_37n	silent	87	15.53	16	SNP	0.987	A
PEX1	5189	genome.wustl.edu	37	7	92123668	92123668	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:92123668T>G	ENST00000248633.4	-	19	3064	c.2969A>C	c.(2968-2970)gAc>gCc	p.D990A	PEX1_ENST00000438045.1_Missense_Mutation_p.D668A|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Missense_Mutation_p.D933A|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	990					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAGGGCAGGGTCAATCAAGTC	0.398																																						dbGAP											0													71.0	68.0	69.0					7																	92123668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2969A>C	7.37:g.92123668T>G	ENSP00000248633:p.Asp990Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.D990A	ENST00000248633.4	37	c.2969	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719182	0.89205	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.95885	-3.84;-3.84;-3.84	5.74	5.74	0.90152	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.98542	4.26	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	0.99671	1.0996	10	0.87932	D	0	-18.1472	16.0347	0.80617	0.0:0.0:0.0:1.0	.	668;782;990	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	A	668;990;933	ENSP00000410438:D668A;ENSP00000248633:D990A;ENSP00000394413:D933A	ENSP00000248633:D990A	D	-	2	0	PEX1	91961604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.194000	0.70268	0.459000	0.35465	GAC	PEX1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000127980		0.398	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	130	0.00	0	T	NM_000466		92123668	92123668	-1	no_errors	ENST00000248633	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	1.000	G
PEX5L	51555	genome.wustl.edu	37	3	179526208	179526208	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:179526208A>C	ENST00000467460.1	-	13	1700	c.1370T>G	c.(1369-1371)gTg>gGg	p.V457G	PEX5L_ENST00000476138.1_Missense_Mutation_p.V414G|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.V265G|PEX5L_ENST00000392649.3_Missense_Mutation_p.V349G|PEX5L_ENST00000485199.1_Missense_Mutation_p.V422G|PEX5L_ENST00000263962.8_Missense_Mutation_p.V455G|PEX5L_ENST00000472994.1_Missense_Mutation_p.V398G|PEX5L_ENST00000464614.1_Missense_Mutation_p.V349G|PEX5L_ENST00000465751.1_Missense_Mutation_p.V433G	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	457					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAATTCCTTCACCCCTTCCAG	0.393																																						dbGAP											0													86.0	92.0	90.0					3																	179526208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1370T>G	3.37:g.179526208A>C	ENSP00000419975:p.Val457Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V457G	ENST00000467460.1	37	c.1370	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506584	0.85282	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	6.17	6.17	0.99709	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.994;0.994;0.999;0.998;0.998	D	0.93690	0.7006	10	0.87932	D	0	-22.5657	16.8222	0.85835	1.0:0.0:0.0:0.0	.	398;433;349;455;422;457	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	G	457;455;422;455;349;265;414;345;398;349;433	ENSP00000419975:V457G;ENSP00000263962:V455G;ENSP00000418440:V422G;ENSP00000376420:V349G;ENSP00000418665:V265G;ENSP00000420555:V414G;ENSP00000418054:V398G;ENSP00000417270:V349G;ENSP00000419348:V433G	ENSP00000263962:V455G	V	-	2	0	PEX5L	181008902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.223000	0.95203	2.371000	0.80710	0.533000	0.62120	GTG	PEX5L	-	pfscan_TPR-contain_dom	ENSG00000114757		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	107	0.93	1	A	NM_016559		179526208	179526208	-1	no_errors	ENST00000467460	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	C
PEX5L	51555	genome.wustl.edu	37	3	179754421	179754421	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:179754421A>C	ENST00000467460.1	-	0	297				PEX5L_ENST00000485199.1_5'UTR|PEX5L_ENST00000263962.8_5'UTR|PEX5L_ENST00000465751.1_5'UTR|PEX5L_ENST00000472994.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like						maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCTGAGGCCACCGGATGCTT	0.557																																						dbGAP											0													106.0	108.0	107.0					3																	179754421		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.-34T>G	3.37:g.179754421A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	RNA	SNP	-	NULL	ENST00000467460.1	37	NULL	CCDS3236.1	3																																																																																			PEX5L	-	-	ENSG00000114757		0.557	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	134	0.00	0	A	NM_016559		179754421	179754421	-1	no_errors	ENST00000474909	ensembl	human	known	69_37n	rna	70	14.46	12	SNP	0.098	C
PEX6	5190	genome.wustl.edu	37	6	42933445	42933445	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:42933445A>C	ENST00000304611.8	-	13	2514	c.2445T>G	c.(2443-2445)agT>agG	p.S815R	PEX6_ENST00000244546.4_Missense_Mutation_p.V733G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	815					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CAGAATCTCCACTTCGCCCCC	0.557																																						dbGAP											0													169.0	185.0	180.0					6																	42933445		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2445T>G	6.37:g.42933445A>C	ENSP00000303511:p.Ser815Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S815R	ENST00000304611.8	37	c.2445	CCDS4877.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.54|18.54	3.646630|3.646630	0.67358|0.67358	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000304611|ENST00000244546	D|D	0.93712|0.95482	-3.27|-3.72	5.76|5.76	2.2|2.2	0.27929|0.27929	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.072977|.	0.85682|.	D|.	0.000000|.	D|D	0.92789|0.92789	0.7707|0.7707	L|L	0.49699|0.49699	1.58|1.58	0.44780|0.44780	D|D	0.997789|0.997789	P|.	0.44877|.	0.845|.	P|.	0.55455|.	0.776|.	D|D	0.91904|0.91904	0.5534|0.5534	10|7	0.51188|0.59425	T|D	0.08|0.04	-4.1097|-4.1097	9.7123|9.7123	0.40254|0.40254	0.8049:0.0:0.1951:0.0|0.8049:0.0:0.1951:0.0	.|.	815|.	Q13608|.	PEX6_HUMAN|.	R|G	815|733	ENSP00000303511:S815R|ENSP00000244546:V733G	ENSP00000303511:S815R|ENSP00000244546:V733G	S|V	-|-	3|2	2|0	PEX6|PEX6	43041423|43041423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.385000|1.385000	0.34408|0.34408	1.013000|1.013000	0.39391|0.39391	0.460000|0.460000	0.39030|0.39030	AGT|GTG	PEX6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000124587		0.557	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	218	0.00	0	A	NM_000287		42933445	42933445	-1	no_errors	ENST00000304611	ensembl	human	known	69_37n	missense	155	17.11	32	SNP	1.000	C
PFAS	5198	genome.wustl.edu	37	17	8158845	8158845	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:8158845T>G	ENST00000314666.6	+	5	543	c.410T>G	c.(409-411)gTg>gGg	p.V137G	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	137					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TCAGCTGAGGTGGAAGCCATT	0.582																																						dbGAP											0													62.0	58.0	59.0					17																	8158845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.410T>G	17.37:g.8158845T>G	ENSP00000313490:p.Val137Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth	p.V137G	ENST00000314666.6	37	c.410	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	T	5.385	0.256331	0.10185	.	.	ENSG00000178921	ENST00000314666	T	0.42900	0.96	5.66	2.07	0.26955	.	0.671223	0.15920	N	0.238170	T	0.22399	0.0540	N	0.24115	0.695	0.33107	D	0.539986	B	0.19445	0.036	B	0.15484	0.013	T	0.17745	-1.0359	10	0.44086	T	0.13	-1.8285	0.6356	0.00802	0.1928:0.1849:0.1391:0.4833	.	137	O15067	PUR4_HUMAN	G	137	ENSP00000313490:V137G	ENSP00000313490:V137G	V	+	2	0	PFAS	8099570	0.987000	0.35691	0.601000	0.28877	0.246000	0.25737	0.958000	0.29227	0.432000	0.26286	0.379000	0.24179	GTG	PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	36	0.00	0	T			8158845	8158845	+1	no_errors	ENST00000314666	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.613	G
PFKM	5213	genome.wustl.edu	37	12	48524190	48524190	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:48524190A>C	ENST00000312352.7	+	3	169	c.130A>C	c.(130-132)Acc>Ccc	p.T44P	PFKM_ENST00000359794.5_Missense_Mutation_p.T44P|PFKM_ENST00000340802.6_Missense_Mutation_p.T115P|PFKM_ENST00000547587.1_Missense_Mutation_p.T44P|PFKM_ENST00000551548.1_3'UTR|PFKM_ENST00000395233.2_Missense_Mutation_p.T44P|PFKM_ENST00000551804.1_Missense_Mutation_p.T44P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	44	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTATCTTCACCGGTGCCCG	0.483																																						dbGAP											0													409.0	354.0	372.0					12																	48524190		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.130A>C	12.37:g.48524190A>C	ENSP00000309438:p.Thr44Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.T44P	ENST00000312352.7	37	c.130	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766665	0.69878	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000550924;ENST00000549941;ENST00000550257;ENST00000340802;ENST00000549366;ENST00000552792;ENST00000548288;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.85	4.85	0.62838	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	L	0.50333	1.59	0.51767	D	0.999933	D;D;P	0.56035	0.96;0.974;0.955	P;D;P	0.67231	0.782;0.95;0.871	D	0.84554	0.0646	10	0.38643	T	0.18	-15.9141	13.8533	0.63510	1.0:0.0:0.0:0.0	.	44;44;115	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	44;44;44;77;118;115;147;115;115;44;44;44;44;44;44;44;44	ENSP00000450369:T44P;ENSP00000449835:T44P;ENSP00000446945:T44P;ENSP00000446829:T77P;ENSP00000447997:T118P;ENSP00000345771:T115P;ENSP00000449622:T147P;ENSP00000448940:T115P;ENSP00000448018:T115P;ENSP00000352842:T44P;ENSP00000448253:T44P;ENSP00000378656:T44P;ENSP00000449269:T44P;ENSP00000448177:T44P;ENSP00000446805:T44P;ENSP00000449426:T44P;ENSP00000309438:T44P	ENSP00000309438:T44P	T	+	1	0	PFKM	46810457	0.054000	0.20591	0.992000	0.48379	0.797000	0.45037	1.941000	0.40233	2.170000	0.68504	0.533000	0.62120	ACC	PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.483	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	270	0.00	0	A	NM_000289		48524190	48524190	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	missense	154	12.99	23	SNP	1.000	C
PFKM	5213	genome.wustl.edu	37	12	48525122	48525122	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:48525122T>G	ENST00000312352.7	+	4	222	c.183T>G	c.(181-183)ggT>ggG	p.G61G	PFKM_ENST00000359794.5_Silent_p.G61G|PFKM_ENST00000340802.6_Silent_p.G132G|PFKM_ENST00000547587.1_Silent_p.G61G|PFKM_ENST00000551548.1_3'UTR|PFKM_ENST00000395233.2_Silent_p.G61G|PFKM_ENST00000551804.1_Silent_p.G61G	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	61	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTGGATGGTGGAGATCACA	0.483																																						dbGAP											0													227.0	197.0	207.0					12																	48525122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.183T>G	12.37:g.48525122T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.G61	ENST00000312352.7	37	c.183	CCDS8760.1	12																																																																																			PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.483	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	120	0.00	0	T	NM_000289		48525122	48525122	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	silent	70	19.54	17	SNP	1.000	G
PGD	5226	genome.wustl.edu	37	1	10479823	10479823	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:10479823A>C	ENST00000270776.8	+	0	1507				PGD_ENST00000541529.1_3'UTR|PGD_ENST00000538557.1_3'UTR|PGD_ENST00000498356.1_3'UTR	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	TGCTCCTGTCACCCTCCACGA	0.512																																						dbGAP											0													180.0	153.0	162.0					1																	10479823		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.*17A>C	1.37:g.10479823A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Y9|B4DQJ8|Q9BWD8	RNA	SNP	-	NULL	ENST00000270776.8	37	NULL	CCDS113.1	1																																																																																			PGD	-	-	ENSG00000142657		0.512	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1	104	0.95	1	A	NM_002631		10479823	10479823	+1	no_errors	ENST00000498356	ensembl	human	known	69_37n	rna	81	21.90	23	SNP	0.000	C
PGK1	5230	genome.wustl.edu	37	X	77380825	77380825	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:77380825T>G	ENST00000373316.4	+	10	1283	c.1116T>G	c.(1114-1116)ggT>ggG	p.G372G	PGK1_ENST00000537456.1_Splice_Site_p.G344G|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Splice_Site_p.G236G	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	372					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	ATTCAACAGGTGGTGGAGACA	0.498																																						dbGAP											0													104.0	93.0	97.0					X																	77380825		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1115-1T>G	X.37:g.77380825T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.G372	ENST00000373316.4	37	c.1116	CCDS14438.1	X																																																																																			PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	ENSG00000102144		0.498	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	154	0.00	0	T		Silent	77380825	77380825	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	silent	177	11.44	23	SNP	0.999	G
PGM1	5236	genome.wustl.edu	37	1	64100599	64100599	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:64100599A>C	ENST00000371084.3	+	5	995	c.782A>C	c.(781-783)cAc>cCc	p.H261P	PGM1_ENST00000540265.1_Missense_Mutation_p.H64P|PGM1_ENST00000371083.4_Missense_Mutation_p.H279P	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	261					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGGCCACCACCCTGACCCC	0.547																																						dbGAP											0													196.0	189.0	191.0					1																	64100599		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.782A>C	1.37:g.64100599A>C	ENSP00000360125:p.His261Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.H279P	ENST00000371084.3	37	c.836	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459551	0.84317	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.64260	-0.09;-0.09;-0.09	5.13	5.13	0.70059	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.79926	2.475	0.54753	D	0.999988	P;B	0.46952	0.887;0.098	B;B	0.43082	0.407;0.136	T	0.69165	-0.5217	10	0.66056	D	0.02	-9.1336	15.1204	0.72438	1.0:0.0:0.0:0.0	.	279;261	P36871-2;P36871	.;PGM1_HUMAN	P	237;261;64;279	ENSP00000360125:H261P;ENSP00000443449:H64P;ENSP00000360124:H279P	ENSP00000360124:H279P	H	+	2	0	PGM1	63873187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.146000	0.66826	0.533000	0.62120	CAC	PGM1	-	pfam_A-D-PHexomutase_a/b/a-II,prints_Alpha-D-phosphohexomutase_SF	ENSG00000079739		0.547	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	220	0.45	1	A	NM_002633		64100599	64100599	+1	no_errors	ENST00000371083	ensembl	human	known	69_37n	missense	187	18.34	42	SNP	1.000	C
PGM1	5236	genome.wustl.edu	37	1	64125258	64125258	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:64125258T>G	ENST00000371084.3	+	11	1814	c.1601T>G	c.(1600-1602)gTc>gGc	p.V534G	PGM1_ENST00000540265.1_Splice_Site_p.V337G|PGM1_ENST00000371083.4_Splice_Site_p.V552G	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	534					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTCCTCAGGTCATGTTGGCC	0.517																																						dbGAP											0													164.0	130.0	141.0					1																	64125258		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1600-1T>G	1.37:g.64125258T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.V552G	ENST00000371084.3	37	c.1655	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555523	0.65425	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.52057	0.68;0.68;0.68	5.44	5.44	0.79542	Alpha-D-phosphohexomutase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.81112	2.525	0.80722	D	1	P;P	0.47034	0.82;0.889	B;P	0.47430	0.362;0.547	T	0.46938	-0.9155	10	0.25751	T	0.34	-36.2063	14.3878	0.66958	0.0:0.0:0.0:1.0	.	552;534	P36871-2;P36871	.;PGM1_HUMAN	G	510;534;337;552	ENSP00000360125:V534G;ENSP00000443449:V337G;ENSP00000360124:V552G	ENSP00000360124:V552G	V	+	2	0	PGM1	63897846	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	5.777000	0.68931	2.186000	0.69663	0.533000	0.62120	GTC	PGM1	-	pfam_A-D-PHexomutase_C	ENSG00000079739		0.517	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	113	0.00	0	T	NM_002633	Missense_Mutation	64125258	64125258	+1	no_errors	ENST00000371083	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	1.000	G
PGM2	55276	genome.wustl.edu	37	4	37846008	37846008	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:37846008T>G	ENST00000381967.4	+	7	843	c.743T>G	c.(742-744)gTg>gGg	p.V248G	PGM2_ENST00000537241.1_Missense_Mutation_p.V88G|PGM2_ENST00000544359.1_Missense_Mutation_p.V109G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	248					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GAGACAAAGGTGAAGTTTGTG	0.478																																						dbGAP											0													173.0	156.0	162.0					4																	37846008		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.743T>G	4.37:g.37846008T>G	ENSP00000371393:p.Val248Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.V248G	ENST00000381967.4	37	c.743	CCDS3443.1	4	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627478	0.28978	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.64260	-0.09;-0.09;-0.09	5.96	4.76	0.60689	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (3);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.337676	0.34002	N	0.004350	T	0.73513	0.3596	M	0.81682	2.555	0.80722	D	1	P;B	0.36633	0.562;0.002	P;B	0.48524	0.58;0.009	T	0.75622	-0.3254	10	0.87932	D	0	-4.4019	12.4172	0.55500	0.126:0.0:0.0:0.874	.	248;109	Q96G03;B4E0G8	PGM2_HUMAN;.	G	248;109;88	ENSP00000371393:V248G;ENSP00000438025:V109G;ENSP00000437342:V88G	ENSP00000371393:V248G	V	+	2	0	PGM2	37522403	1.000000	0.71417	0.414000	0.26521	0.148000	0.21650	6.220000	0.72237	1.042000	0.40150	0.533000	0.62120	GTG	PGM2	-	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	ENSG00000169299		0.478	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	133	0.00	0	T	NM_018290		37846008	37846008	+1	no_errors	ENST00000381967	ensembl	human	known	69_37n	missense	109	19.57	27	SNP	0.991	G
PHACTR2	9749	genome.wustl.edu	37	6	144081677	144081677	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:144081677T>G	ENST00000427704.2	+	5	691	c.561T>G	c.(559-561)ggT>ggG	p.G187G	PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Silent_p.G198G|PHACTR2_ENST00000367584.4_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	187							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCCACAAAGGTGATGAAGTGC	0.562																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	dbGAP											0													48.0	55.0	53.0					6																	144081677		1862	4084	5946	-	-	-	SO:0001819	synonymous_variant	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.561T>G	6.37:g.144081677T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.G198	ENST00000427704.2	37	c.594	CCDS47492.1	6																																																																																			PHACTR2	-	NULL	ENSG00000112419		0.562	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	121	0.00	0	T	NM_014721		144081677	144081677	+1	no_errors	ENST00000440869	ensembl	human	known	69_37n	silent	82	17.00	17	SNP	0.998	G
PHACTR2	9749	genome.wustl.edu	37	6	144086569	144086569	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:144086569A>C	ENST00000427704.2	+	6	963	c.833A>C	c.(832-834)cAc>cCc	p.H278P	PHACTR2_ENST00000305766.6_Missense_Mutation_p.H198P|PHACTR2_ENST00000367582.3_Missense_Mutation_p.H209P|PHACTR2_ENST00000440869.2_Missense_Mutation_p.H289P|PHACTR2_ENST00000367584.4_Missense_Mutation_p.H266P	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	278							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ATAACTTCTCACCTGTCCTCA	0.507																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	dbGAP											0													88.0	93.0	91.0					6																	144086569		1987	4182	6169	-	-	-	SO:0001583	missense	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.833A>C	6.37:g.144086569A>C	ENSP00000391763:p.His278Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.H289P	ENST00000427704.2	37	c.866	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726126	0.30593	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000542769;ENST00000367583	T;T;T;T;T;T	0.43688	1.55;1.92;1.57;1.92;1.57;0.94	5.22	3.45	0.39498	.	1.216630	0.05419	N	0.543945	T	0.10208	0.0250	N	0.08118	0	0.34889	D	0.745343	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.06058	-1.0848	10	0.26408	T	0.33	.	9.4916	0.38962	0.221:0.0:0.779:0.0	.	289;198;209;278	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	P	266;278;198;289;209;156;153;156	ENSP00000356556:H266P;ENSP00000391763:H278P;ENSP00000305530:H198P;ENSP00000417038:H289P;ENSP00000356554:H209P;ENSP00000442153:H153P	ENSP00000305530:H198P	H	+	2	0	PHACTR2	144128262	0.029000	0.19370	0.004000	0.12327	0.007000	0.05969	0.583000	0.23849	0.242000	0.21303	-0.735000	0.03563	CAC	PHACTR2	-	NULL	ENSG00000112419		0.507	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	142	0.69	1	A	NM_014721		144086569	144086569	+1	no_errors	ENST00000440869	ensembl	human	known	69_37n	missense	138	16.36	27	SNP	0.085	C
PHACTR4	65979	genome.wustl.edu	37	1	28792954	28792954	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:28792954A>C	ENST00000373839.3	+	6	759	c.498A>C	c.(496-498)ccA>ccC	p.P166P	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.P176P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	166					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TACCCAAACCACCTTTACTTC	0.473																																						dbGAP											0													162.0	156.0	158.0					1																	28792954		2027	4180	6207	-	-	-	SO:0001819	synonymous_variant	0			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.498A>C	1.37:g.28792954A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.P176	ENST00000373839.3	37	c.528	CCDS41293.1	1																																																																																			PHACTR4	-	NULL	ENSG00000204138		0.473	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	166	0.00	0	A	NM_023923		28792954	28792954	+1	no_errors	ENST00000373836	ensembl	human	known	69_37n	silent	159	16.23	31	SNP	0.971	C
PHB	5245	genome.wustl.edu	37	17	47484119	47484119	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:47484119A>C	ENST00000300408.3	-	6	679		c.e6+1		PHB_ENST00000508009.1_Splice_Site|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin						cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TCGAAGGCTCACCTTTTCCAC	0.552																																						dbGAP											0													99.0	99.0	99.0					17																	47484119		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.606+1T>G	17.37:g.47484119A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY47|Q4VBQ0	Splice_Site	SNP	-	e5+2	ENST00000300408.3	37	c.606+2	CCDS11548.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.73|19.73	3.881709|3.881709	0.72294|0.72294	.|.	.|.	ENSG00000167085|ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124|ENST00000512041	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73552	.|0.3601	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77070	.|-0.2724	.|5	.|0.87932	.|D	.|0	.|.	13.3491|13.3491	0.60591|0.60591	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|203	.|.	.|ENSP00000422182:V203G	.|V	-|-	.|2	.|0	PHB|PHB	44839118|44839118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.175000|9.175000	0.94831|0.94831	2.038000|2.038000	0.60285|0.60285	0.528000|0.528000	0.53228|0.53228	.|GTG	PHB	-	-	ENSG00000167085		0.552	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	41	0.00	0	A	NM_002634	Intron	47484119	47484119	-1	no_errors	ENST00000300408	ensembl	human	known	69_37n	splice_site	21	19.23	5	SNP	1.000	C
PHF19	26147	genome.wustl.edu	37	9	123624964	123624964	+	Silent	SNP	T	T	G	rs562400687	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:123624964T>G	ENST00000373896.3	-	11	1284	c.1032A>C	c.(1030-1032)ccA>ccC	p.P344P	PHF19_ENST00000419155.1_Silent_p.P135P|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	344					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGGGTTGGGTGGGACGCGGA	0.597													T|||	3	0.000599042	0.0023	0.0	5008	,	,		20257	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													189.0	196.0	194.0					9																	123624964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1032A>C	9.37:g.123624964T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.P344	ENST00000373896.3	37	c.1032	CCDS35116.1	9																																																																																			PHF19	-	NULL	ENSG00000119403		0.597	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3	129	0.00	0	T	XM_045308		123624964	123624964	-1	no_errors	ENST00000373896	ensembl	human	known	69_37n	silent	94	16.81	19	SNP	0.635	G
PHF19	26147	genome.wustl.edu	37	9	123628106	123628106	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:123628106A>C	ENST00000373896.3	-	9	1034	c.782T>G	c.(781-783)gTg>gGg	p.V261G	PHF19_ENST00000419155.1_Missense_Mutation_p.V52G|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	261					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCACATCCACCCTGGGCAA	0.582																																						dbGAP											0													86.0	89.0	88.0					9																	123628106		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.782T>G	9.37:g.123628106A>C	ENSP00000363003:p.Val261Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.V261G	ENST00000373896.3	37	c.782	CCDS35116.1	9	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347239	0.82022	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868;ENST00000439674	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.85	4.85	0.62838	Zinc finger, FYVE/PHD-type (1);	0.066985	0.64402	D	0.000015	T	0.31827	0.0809	M	0.72353	2.195	0.80722	D	1	B	0.26975	0.165	B	0.30401	0.115	T	0.12708	-1.0537	10	0.49607	T	0.09	-8.4809	13.2419	0.60002	1.0:0.0:0.0:0.0	.	261	Q5T6S3	PHF19_HUMAN	G	261;261;52;52;52	ENSP00000363003:V261G;ENSP00000407433:V52G;ENSP00000395938:V52G;ENSP00000404655:V52G	ENSP00000363003:V261G	V	-	2	0	PHF19	122667927	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.314000	0.78988	1.820000	0.53075	0.454000	0.30748	GTG	PHF19	-	superfamily_Znf_FYVE_PHD	ENSG00000119403		0.582	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3	86	0.00	0	A	XM_045308		123628106	123628106	-1	no_errors	ENST00000373896	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	1.000	C
PHF3	23469	genome.wustl.edu	37	6	64422920	64422920	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:64422920A>C	ENST00000262043.3	+	16	5776	c.5436A>C	c.(5434-5436)ccA>ccC	p.P1812P	PHF3_ENST00000393387.1_Silent_p.P1812P			Q92576	PHF3_HUMAN	PHD finger protein 3	1812	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTCTAGCCCACCTGGATTTC	0.507																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													124.0	129.0	127.0					6																	64422920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5436A>C	6.37:g.64422920A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.P1812	ENST00000262043.3	37	c.5436	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.507	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	354	0.56	2	A			64422920	64422920	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	silent	259	12.12	36	SNP	0.563	C
PHF3	23469	genome.wustl.edu	37	6	64423052	64423052	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:64423052A>C	ENST00000262043.3	+	16	5908	c.5568A>C	c.(5566-5568)ccA>ccC	p.P1856P	PHF3_ENST00000393387.1_Silent_p.P1856P			Q92576	PHF3_HUMAN	PHD finger protein 3	1856	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTCCCTGGCCACCTGTTGTTC	0.498																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													112.0	118.0	116.0					6																	64423052		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5568A>C	6.37:g.64423052A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.P1856	ENST00000262043.3	37	c.5568	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.498	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	360	0.82	3	A			64423052	64423052	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	silent	217	14.84	38	SNP	1.000	C
PHF7	51533	genome.wustl.edu	37	3	52456899	52456899	+	Splice_Site	SNP	T	T	G	rs111894107		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52456899T>G	ENST00000327906.3	+	10	1579		c.e10+2		PHF7_ENST00000347025.2_Splice_Site	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CAGCCACAGGTGAGGCTGGAG	0.572																																						dbGAP											0													73.0	77.0	75.0					3																	52456899		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.919+2T>G	3.37:g.52456899T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	K4DI82	Splice_Site	SNP	-	e9+2	ENST00000327906.3	37	c.919+2	CCDS2854.1	3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156623	0.78114	.	.	ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9918	0.58622	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF7	52431939	0.996000	0.38824	0.975000	0.42487	0.973000	0.67179	1.506000	0.35747	2.323000	0.78572	0.533000	0.62120	.	PHF7	-	-	ENSG00000010318		0.572	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF7	HGNC	protein_coding	OTTHUMT00000351155.1	129	0.00	0	T	NM_016483	Intron	52456899	52456899	+1	no_errors	ENST00000327906	ensembl	human	known	69_37n	splice_site	139	15.76	26	SNP	0.990	G
PHGDH	26227	genome.wustl.edu	37	1	120286656	120286656	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:120286656A>C	ENST00000369409.4	+	12	1731	c.1595A>C	c.(1594-1596)cAc>cCc	p.H532P	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.H498P	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	532					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		TTCCAGTTCCACTTCTAACCT	0.552											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													116.0	104.0	109.0					1																	120286656		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1595A>C	1.37:g.120286656A>C	ENSP00000358417:p.His532Pro	Somatic	1502	WXS	Illumina GAIIx	Phase_IV	B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH	p.H532P	ENST00000369409.4	37	c.1595	CCDS904.1	1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845839	0.32606	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.90955	-2.75;-2.76	5.94	-5.62	0.02481	.	1.662690	0.02550	N	0.095626	T	0.65228	0.2671	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.20368	0.044;0.012;0.021;0.012	B;B;B;B	0.21917	0.008;0.008;0.037;0.004	T	0.63024	-0.6729	10	0.30078	T	0.28	-6.2565	4.9342	0.13932	0.2927:0.0:0.371:0.3363	.	498;498;405;532	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	P	532;405;498	ENSP00000358417:H532P;ENSP00000358415:H498P	ENSP00000358415:H498P	H	+	2	0	PHGDH	120088179	0.000000	0.05858	0.096000	0.21009	0.721000	0.41392	-0.811000	0.04500	-0.891000	0.03940	0.528000	0.53228	CAC	PHGDH	-	NULL	ENSG00000092621		0.552	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGDH	HGNC	protein_coding	OTTHUMT00000033464.1	182	0.00	0	A	NM_006623		120286656	120286656	+1	no_errors	ENST00000369409	ensembl	human	known	69_37n	missense	216	12.90	32	SNP	0.012	C
PHKA2	5256	genome.wustl.edu	37	X	18942526	18942526	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:18942526T>G	ENST00000379942.4	-	16	2352	c.1687A>C	c.(1687-1689)Acc>Ccc	p.T563P		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	563					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATGGGGAAGGTGAGTGTGGGT	0.557																																						dbGAP											0													139.0	120.0	127.0					X																	18942526		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1687A>C	X.37:g.18942526T>G	ENSP00000369274:p.Thr563Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T563P	ENST00000379942.4	37	c.1687	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	N	25.3	4.620715	0.87460	.	.	ENSG00000044446	ENST00000379942	D	0.91894	-2.93	5.17	5.17	0.71159	Glycoside hydrolase 15-related (1);	0.045609	0.85682	D	0.000000	D	0.96399	0.8825	M	0.92122	3.275	0.80722	D	1	D	0.53462	0.96	P	0.60609	0.877	D	0.97151	0.9831	10	0.72032	D	0.01	-22.4721	13.9879	0.64348	0.0:0.0:0.0:1.0	.	563	P46019	KPB2_HUMAN	P	563	ENSP00000369274:T563P	ENSP00000369274:T563P	T	-	1	0	PHKA2	18852447	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.996000	0.63914	1.828000	0.53243	0.486000	0.48141	ACC	PHKA2	-	pfam_Glyco_hydro_15	ENSG00000044446		0.557	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	85	0.00	0	T	NM_000292		18942526	18942526	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	missense	86	18.87	20	SNP	1.000	G
PHKA2	5256	genome.wustl.edu	37	X	18944651	18944651	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:18944651A>C	ENST00000379942.4	-	14	2044	c.1379T>G	c.(1378-1380)gTg>gGg	p.V460G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	460					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTGGACGTTCACCCCGTGTTT	0.448																																						dbGAP											0													196.0	145.0	163.0					X																	18944651		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1379T>G	X.37:g.18944651A>C	ENSP00000369274:p.Val460Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.V460G	ENST00000379942.4	37	c.1379	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816680	0.32145	.	.	ENSG00000044446	ENST00000379942	D	0.91843	-2.92	5.38	5.38	0.77491	Glycoside hydrolase 15-related (1);	1.123380	0.06355	N	0.710675	D	0.93304	0.7866	L	0.49126	1.545	0.23769	N	0.99689	B	0.23377	0.084	B	0.39840	0.311	D	0.85068	0.0938	10	0.87932	D	0	0.1788	14.3032	0.66368	1.0:0.0:0.0:0.0	.	460	P46019	KPB2_HUMAN	G	460	ENSP00000369274:V460G	ENSP00000369274:V460G	V	-	2	0	PHKA2	18854572	0.950000	0.32346	0.006000	0.13384	0.007000	0.05969	8.725000	0.91468	1.905000	0.55150	0.486000	0.48141	GTG	PHKA2	-	pfam_Glyco_hydro_15	ENSG00000044446		0.448	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	171	0.00	0	A	NM_000292		18944651	18944651	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	missense	209	12.50	30	SNP	0.159	C
PHKA1	5255	genome.wustl.edu	37	X	71800899	71800899	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:71800899T>G	ENST00000373542.4	-	32	3784	c.3625A>C	c.(3625-3627)Acc>Ccc	p.T1209P	PHKA1_ENST00000373539.3_Missense_Mutation_p.T1226P|PHKA1_ENST00000541944.1_Missense_Mutation_p.T1137P|PHKA1_ENST00000373545.3_Missense_Mutation_p.T1167P|PHKA1_ENST00000339490.3_Missense_Mutation_p.T1196P	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1209					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGCACGTAGGTGGCGGCTGCC	0.582																																						dbGAP											0													81.0	62.0	68.0					X																	71800899		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3625A>C	X.37:g.71800899T>G	ENSP00000362643:p.Thr1209Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T1226P	ENST00000373542.4	37	c.3676	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	T	17.90	3.500926	0.64298	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	4.96	4.96	0.65561	.	0.240623	0.42294	D	0.000735	D	0.91630	0.7355	L	0.50333	1.59	0.28498	N	0.914132	P;P;P;P	0.48016	0.682;0.729;0.823;0.904	B;B;B;P	0.46362	0.175;0.391;0.382;0.514	D	0.87258	0.2277	10	0.41790	T	0.15	-9.6775	11.5812	0.50891	0.0:0.0:0.0:1.0	.	1137;1167;1196;1209	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	P	1167;1209;1137;1196;1226	ENSP00000362646:T1167P;ENSP00000362643:T1209P;ENSP00000441251:T1137P;ENSP00000342469:T1196P;ENSP00000362640:T1226P	ENSP00000342469:T1196P	T	-	1	0	PHKA1	71717624	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.106000	0.31098	1.634000	0.50500	0.437000	0.28790	ACC	PHKA1	-	NULL	ENSG00000067177		0.582	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	64	0.00	0	T			71800899	71800899	-1	no_errors	ENST00000373539	ensembl	human	known	69_37n	missense	47	31.88	22	SNP	1.000	G
PHLDB2	90102	genome.wustl.edu	37	3	111632499	111632499	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:111632499A>C	ENST00000431670.2	+	3	2080	c.1669A>C	c.(1669-1671)Acc>Ccc	p.T557P	PHLDB2_ENST00000393925.3_Missense_Mutation_p.T557P|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T584P|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T557P|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T557P|PHLDB2_ENST00000495180.1_Missense_Mutation_p.T143P|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T557P	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	557						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACCATCCTCCACCTTTCCGAA	0.512																																						dbGAP											0													162.0	175.0	171.0					3																	111632499		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1669A>C	3.37:g.111632499A>C	ENSP00000405405:p.Thr557Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T557P	ENST00000431670.2	37	c.1669	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	9.486	1.099425	0.20552	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.31247	1.5;1.51;1.5;1.5;1.51;1.5;1.5	5.54	2.6	0.31112	.	0.871780	0.10157	N	0.708845	T	0.13884	0.0336	N	0.08118	0	0.22034	N	0.999406	B;B;B;B;B	0.31790	0.105;0.257;0.34;0.091;0.256	B;B;B;B;B	0.26416	0.019;0.062;0.069;0.039;0.064	T	0.14420	-1.0473	10	0.33141	T	0.24	.	6.4892	0.22105	0.1872:0.1661:0.6468:0.0	.	143;557;557;557;584	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	P	584;584;557;557;557;557;557;557;143	ENSP00000377500:T584P;ENSP00000405405:T557P;ENSP00000405292:T557P;ENSP00000418296:T557P;ENSP00000377502:T557P;ENSP00000418319:T557P;ENSP00000420303:T143P	ENSP00000352764:T584P	T	+	1	0	PHLDB2	113115189	0.799000	0.28903	0.978000	0.43139	0.349000	0.29174	0.969000	0.29370	1.324000	0.45282	-0.375000	0.07067	ACC	PHLDB2	-	NULL	ENSG00000144824		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	536	0.73	4	A	NM_145753		111632499	111632499	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	missense	453	18.05	100	SNP	0.699	C
PI16	221476	genome.wustl.edu	37	6	36930961	36930961	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:36930961A>C	ENST00000373674.3	+	5	1171	c.843A>C	c.(841-843)ccA>ccC	p.P281P	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	281					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGAGGCTCCACCTTGCGTAA	0.572																																						dbGAP											0													87.0	73.0	78.0					6																	36930961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.843A>C	6.37:g.36930961A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.P281	ENST00000373674.3	37	c.843	CCDS34440.1	6																																																																																			PI16	-	NULL	ENSG00000164530		0.572	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	HGNC	protein_coding	OTTHUMT00000040380.1	132	0.75	1	A	NM_153370		36930961	36930961	+1	no_errors	ENST00000373674	ensembl	human	known	69_37n	silent	87	20.00	22	SNP	0.005	C
PIGG	54872	genome.wustl.edu	37	4	517272	517272	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:517272T>G	ENST00000453061.2	+	9	1745	c.1639T>G	c.(1639-1641)Tgg>Ggg	p.W547G	PIGG_ENST00000504346.1_Missense_Mutation_p.W458G|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.W539G|PIGG_ENST00000383028.4_Missense_Mutation_p.W414G	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	547					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAGCTCAAGGTGGTCAGAGCT	0.542																																						dbGAP											0													228.0	229.0	228.0					4																	517272		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1639T>G	4.37:g.517272T>G	ENSP00000415203:p.Trp547Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.W547G	ENST00000453061.2	37	c.1639	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794835	0.50102	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10668	3.19;3.18;2.86;2.85	5.67	5.67	0.87782	.	0.109605	0.64402	D	0.000002	T	0.30603	0.0770	M	0.74881	2.28	0.80722	D	1	D;P;D	0.69078	0.997;0.911;0.991	D;B;P	0.64506	0.926;0.42;0.837	T	0.01363	-1.1374	10	0.40728	T	0.16	.	14.1508	0.65384	0.0:0.0:0.0:1.0	.	414;547;539	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	G	539;547;458;414	ENSP00000311750:W539G;ENSP00000415203:W547G;ENSP00000424800:W458G;ENSP00000372494:W414G	ENSP00000311750:W539G	W	+	1	0	PIGG	507272	0.998000	0.40836	0.937000	0.37676	0.864000	0.49448	3.255000	0.51484	2.288000	0.76882	0.533000	0.62120	TGG	PIGG	-	NULL	ENSG00000174227		0.542	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	184	0.00	0	T	NM_017733		517272	517272	+1	no_errors	ENST00000453061	ensembl	human	known	69_37n	missense	183	12.86	27	SNP	0.977	G
PIGV	55650	genome.wustl.edu	37	1	27121571	27121571	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:27121571A>C	ENST00000374145.1	+	3	1728	c.1046A>C	c.(1045-1047)cAc>cCc	p.H349P	PIGV_ENST00000078527.4_Missense_Mutation_p.H349P|PIGV_ENST00000449950.2_Missense_Mutation_p.H121P	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	349					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GTGACCACTCACCCTTGGCTC	0.493																																						dbGAP											0													138.0	143.0	142.0					1																	27121571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1046A>C	1.37:g.27121571A>C	ENSP00000363260:p.His349Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	pfam_GPI_Mannosyltransferase_2-like	p.H349P	ENST00000374145.1	37	c.1046	CCDS287.1	1	.	.	.	.	.	.	.	.	.	.	a	20.5	4.005122	0.74932	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.83419	-1.72;-1.72;-1.72	5.58	5.58	0.84498	.	0.101688	0.64402	D	0.000004	D	0.83124	0.5186	L	0.60455	1.87	0.49213	D	0.99976	P;P	0.51653	0.892;0.947	P;P	0.47827	0.449;0.558	T	0.80957	-0.1150	10	0.21014	T	0.42	-8.4704	15.7551	0.78018	1.0:0.0:0.0:0.0	.	349;121	Q9NUD9;B4DWP9	PIGV_HUMAN;.	P	349;121;349	ENSP00000078527:H349P;ENSP00000395156:H121P;ENSP00000363260:H349P	ENSP00000078527:H349P	H	+	2	0	PIGV	26994158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.959000	0.93110	2.126000	0.65437	0.378000	0.23410	CAC	PIGV	-	pfam_GPI_Mannosyltransferase_2-like	ENSG00000060642		0.493	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGV	HGNC	protein_coding	OTTHUMT00000011441.1	76	0.00	0	A	NM_017837		27121571	27121571	+1	no_errors	ENST00000078527	ensembl	human	known	69_37n	missense	50	22.73	15	SNP	1.000	C
PIK3C2B	5287	genome.wustl.edu	37	1	204438609	204438609	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:204438609A>G	ENST00000367187.3	-	3	878	c.322T>C	c.(322-324)Tcc>Ccc	p.S108P	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S108P	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	108	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCCCTTGGGAGGTAGAGTGG	0.572																																						dbGAP											0													94.0	87.0	89.0					1																	204438609		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.322T>C	1.37:g.204438609A>G	ENSP00000356155:p.Ser108Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S108P	ENST00000367187.3	37	c.322	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173378	0.38413	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899	T;T	0.62788	-0.0;0.09	5.14	1.58	0.23477	.	0.410271	0.21291	N	0.076978	T	0.44393	0.1291	L	0.29908	0.895	0.29470	N	0.85709	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36504	-0.9745	10	0.62326	D	0.03	.	5.2999	0.15772	0.6591:0.1429:0.198:0.0	.	108;108	F5GWN5;O00750	.;P3C2B_HUMAN	P	108	ENSP00000356155:S108P;ENSP00000400561:S108P	ENSP00000356155:S108P	S	-	1	0	PIK3C2B	202705232	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.185000	0.42584	0.020000	0.15106	0.379000	0.24179	TCC	PIK3C2B	-	NULL	ENSG00000133056		0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	164	0.00	0	A	NM_002646		204438609	204438609	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	182	11.11	23	SNP	0.970	G
PIK3CA	5290	genome.wustl.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		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.G118D(26)		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)	TTTATTAAAGGTTTTGCTATC	0.338		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"""	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93.0	87.0	89.0					3																	178917478		1809	4071	5880	-	-	-	SO:0001630	splice_region_variant	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.353-1G>A	3.37:g.178917478G>A		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.G118D	ENST00000263967.3	37	c.353	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT	PIK3CA	-	NULL	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	103	0.96	1	G		Missense_Mutation	178917478	178917478	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	84	26.32	30	SNP	1.000	A
PILRA	29992	genome.wustl.edu	37	7	99987655	99987655	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99987655T>G	ENST00000198536.2	+	3	811	c.599T>G	c.(598-600)gTg>gGg	p.V200G	PILRA_ENST00000350573.2_Intron|PILRA_ENST00000453419.1_Intron|PILRA_ENST00000394000.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	200					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGTGGGGGTGGCAGTGGCT	0.582																																						dbGAP											0													142.0	113.0	123.0					7																	99987655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.599T>G	7.37:g.99987655T>G	ENSP00000198536:p.Val200Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHI1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.V200G	ENST00000198536.2	37	c.599	CCDS5691.1	7	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266307	0.40095	.	.	ENSG00000085514	ENST00000198536	T	0.20738	2.05	3.57	2.41	0.29592	.	1.538920	0.04150	N	0.321137	T	0.21062	0.0507	L	0.50333	1.59	0.20563	N	0.999884	P	0.43477	0.808	B	0.39027	0.288	T	0.20638	-1.0269	9	.	.	.	.	5.5802	0.17245	0.0:0.1267:0.0:0.8733	.	200	Q9UKJ1	PILRA_HUMAN	G	200	ENSP00000198536:V200G	.	V	+	2	0	PILRA	99825591	0.553000	0.26513	0.010000	0.14722	0.013000	0.08279	0.761000	0.26489	0.732000	0.32470	0.528000	0.53228	GTG	PILRA	-	NULL	ENSG00000085514		0.582	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRA	HGNC	protein_coding	OTTHUMT00000339016.1	143	0.00	0	T	NM_013439		99987655	99987655	+1	no_errors	ENST00000198536	ensembl	human	known	69_37n	missense	94	13.76	15	SNP	0.011	G
PIP4K2A	5305	genome.wustl.edu	37	10	22830840	22830840	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:22830840A>C	ENST00000376573.4	-	8	1157	c.929T>G	c.(928-930)gTg>gGg	p.V310G	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.V251G|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.V170G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	310	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GGGGGTTCCCACCGGGTGGGT	0.597																																						dbGAP											0													80.0	74.0	76.0					10																	22830840		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.929T>G	10.37:g.22830840A>C	ENSP00000365757:p.Val310Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.V310G	ENST00000376573.4	37	c.929	CCDS7141.1	10	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290601	0.40494	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.30714	1.52;1.52;1.52	6.07	6.07	0.98685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.294390	0.27509	N	0.019041	T	0.38161	0.1030	M	0.77820	2.39	0.38061	D	0.93608	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.28586	-1.0039	10	0.27082	T	0.32	-20.9667	16.6288	0.85011	1.0:0.0:0.0:0.0	.	170;310	B4DH09;P48426	.;PI42A_HUMAN	G	310;170;251	ENSP00000365757:V310G;ENSP00000326294:V170G;ENSP00000442098:V251G	ENSP00000326294:V170G	V	-	2	0	PIP4K2A	22870846	0.596000	0.26866	0.005000	0.12908	0.739000	0.42172	5.676000	0.68131	2.326000	0.78906	0.533000	0.62120	GTG	PIP4K2A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000150867		0.597	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1	121	0.81	1	A	NM_005028		22830840	22830840	-1	no_errors	ENST00000376573	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	0.130	C
PIP5KL1	138429	genome.wustl.edu	37	9	130687562	130687562	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130687562A>C	ENST00000388747.4	-	9	808				PIP5KL1_ENST00000300432.3_Intron|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1							cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CAGTGCCCCCACCtgagcgct	0.587																																						dbGAP											0													36.0	34.0	35.0					9																	130687562		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.764-23T>G	9.37:g.130687562A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVS3	RNA	SNP	-	NULL	ENST00000388747.4	37	NULL	CCDS48030.1	9																																																																																			PIP5KL1	-	-	ENSG00000167103		0.587	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	22	0.00	0	A	NM_173492		130687562	130687562	-1	no_errors	ENST00000497234	ensembl	human	known	69_37n	rna	10	56.52	13	SNP	0.000	C
PIPSL	266971	genome.wustl.edu	37	10	95720884	95720884	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:95720884T>G	ENST00000480546.1	-	0	413					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										AGGCAACAGGTGCATAGGTCT	0.498																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720884T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.498	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	125	0.79	1	T	NR_002319		95720884	95720884	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	100	21.71	28	SNP	0.998	G
PIR	8544	genome.wustl.edu	37	X	15425670	15425670	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15425670A>C	ENST00000380421.3	-	7	1028	c.568T>G	c.(568-570)Tgg>Ggg	p.W190G	PIR_ENST00000380420.5_Missense_Mutation_p.W190G	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	190					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AAGCTTGTCCACCCTGGAAAG	0.368																																					Ovarian(180;1587 2015 10555 34192 51653)	dbGAP											0													198.0	157.0	171.0					X																	15425670		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.568T>G	X.37:g.15425670A>C	ENSP00000369786:p.Trp190Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U0G0|Q6FHD2	Missense_Mutation	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.W190G	ENST00000380421.3	37	c.568	CCDS14167.1	X	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120007	0.56613	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44482	0.92;0.92	5.98	5.98	0.97165	Cupin, RmlC-type (1);Pirin, C-terminal (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	H	0.94306	3.52	0.54753	D	0.999982	P	0.49696	0.927	P	0.54759	0.76	T	0.76233	-0.3034	10	0.66056	D	0.02	-25.2346	11.5569	0.50752	1.0:0.0:0.0:0.0	.	190	O00625	PIR_HUMAN	G	190	ENSP00000369785:W190G;ENSP00000369786:W190G	ENSP00000369785:W190G	W	-	1	0	PIR	15335591	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	4.687000	0.61708	2.002000	0.58637	0.486000	0.48141	TGG	PIR	-	pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin	ENSG00000087842		0.368	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	382	0.00	0	A	NM_003662		15425670	15425670	-1	no_errors	ENST00000380420	ensembl	human	known	69_37n	missense	340	10.00	38	SNP	0.999	C
PIR	8544	genome.wustl.edu	37	X	15477804	15477804	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15477804A>C	ENST00000380421.3	-	4	709	c.249T>G	c.(247-249)ggT>ggG	p.G83G	PIR_ENST00000380420.5_Silent_p.G83G|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	83					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					GGTTCATTTTACCAGTGTGTC	0.473																																					Ovarian(180;1587 2015 10555 34192 51653)	dbGAP											0													279.0	268.0	272.0					X																	15477804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.249T>G	X.37:g.15477804A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U0G0|Q6FHD2	Silent	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.G83	ENST00000380421.3	37	c.249	CCDS14167.1	X																																																																																			PIR	-	pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	ENSG00000087842		0.473	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	534	0.00	0	A	NM_003662		15477804	15477804	-1	no_errors	ENST00000380420	ensembl	human	known	69_37n	silent	490	10.05	55	SNP	0.052	C
PIWIL4	143689	genome.wustl.edu	37	11	94322375	94322375	+	Missense_Mutation	SNP	A	A	C	rs188883167		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:94322375A>C	ENST00000299001.6	+	8	1214	c.1003A>C	c.(1003-1005)Acc>Ccc	p.T335P	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	335	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACCGAGATCACCTATGTGGA	0.433																																						dbGAP											0													179.0	163.0	169.0					11																	94322375		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1003A>C	11.37:g.94322375A>C	ENSP00000299001:p.Thr335Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.T335P	ENST00000299001.6	37	c.1003	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763289	0.69763	.	.	ENSG00000134627	ENST00000299001	T	0.21361	2.01	4.97	4.97	0.65823	Argonaute/Dicer protein, PAZ (4);	0.080075	0.51477	D	0.000094	T	0.50103	0.1596	M	0.87758	2.905	0.80722	D	1	D	0.61080	0.989	D	0.67103	0.949	T	0.59445	-0.7453	10	0.87932	D	0	-17.6034	13.9289	0.63981	1.0:0.0:0.0:0.0	.	335	Q7Z3Z4	PIWL4_HUMAN	P	335	ENSP00000299001:T335P	ENSP00000299001:T335P	T	+	1	0	PIWIL4	93962023	1.000000	0.71417	0.963000	0.40424	0.935000	0.57460	3.326000	0.52037	1.976000	0.57569	0.459000	0.35465	ACC	PIWIL4	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000134627		0.433	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	190	0.00	0	A	NM_152431		94322375	94322375	+1	no_errors	ENST00000299001	ensembl	human	known	69_37n	missense	141	15.06	25	SNP	1.000	C
PKHD1	5314	genome.wustl.edu	37	6	51613181	51613181	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:51613181A>C	ENST00000371117.3	-	58	9508	c.9233T>G	c.(9232-9234)gTg>gGg	p.V3078G	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3078G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3078					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCCCGCCACCCAAATGGT	0.522																																						dbGAP											0													187.0	163.0	171.0					6																	51613181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9233T>G	6.37:g.51613181A>C	ENSP00000360158:p.Val3078Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.V3078G	ENST00000371117.3	37	c.9233	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054411	0.36277	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;D	0.87571	-0.65;-2.27	5.72	5.72	0.89469	Pectin lyase fold/virulence factor (1);	0.000000	0.64402	D	0.000003	D	0.90878	0.7134	M	0.73962	2.25	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.89337	0.3651	10	0.26408	T	0.33	.	15.1835	0.72978	1.0:0.0:0.0:0.0	.	3078;3078;3078	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	G	3078	ENSP00000360158:V3078G;ENSP00000341097:V3078G	ENSP00000341097:V3078G	V	-	2	0	PKHD1	51721140	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	6.186000	0.72026	2.177000	0.69029	0.533000	0.62120	GTG	PKHD1	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000170927		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	392	0.00	0	A	NM_138694		51613181	51613181	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	282	11.46	37	SNP	1.000	C
PKHD1	5314	genome.wustl.edu	37	6	51934269	51934269	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:51934269T>G	ENST00000371117.3	-	11	1039	c.764A>C	c.(763-765)tAc>tCc	p.Y255S	PKHD1_ENST00000340994.4_Missense_Mutation_p.Y255S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	255			Y -> C (in ARPKD). {ECO:0000269|PubMed:19914852}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTGTCTGGTATAGGAAAAG	0.448																																						dbGAP											0													265.0	246.0	253.0					6																	51934269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.764A>C	6.37:g.51934269T>G	ENSP00000360158:p.Tyr255Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.Y255S	ENST00000371117.3	37	c.764	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433447	0.62955	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88664	-2.21;-2.41	5.28	4.09	0.47781	Immunoglobulin-like fold (1);	0.184791	0.38605	N	0.001622	D	0.89015	0.6595	M	0.63428	1.95	0.31511	N	0.66361	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.941	D	0.85879	0.1421	10	0.45353	T	0.12	.	9.1703	0.37076	0.2909:0.0:0.0:0.7091	.	255;255	P08F94-2;P08F94	.;PKHD1_HUMAN	S	255	ENSP00000360158:Y255S;ENSP00000341097:Y255S	ENSP00000341097:Y255S	Y	-	2	0	PKHD1	52042228	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.258000	0.43249	0.926000	0.37118	0.529000	0.55759	TAC	PKHD1	-	NULL	ENSG00000170927		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	263	0.38	1	T	NM_138694		51934269	51934269	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	151	13.71	24	SNP	1.000	G
PLA2G2A	5320	genome.wustl.edu	37	1	20302208	20302208	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:20302208T>G	ENST00000375111.3	-	6	692	c.421A>C	c.(421-423)Acc>Ccc	p.T141P	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.T141P|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	141					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CAACGAGGGGTGCTCCCTCTG	0.502																																						dbGAP											0													193.0	181.0	185.0					1																	20302208		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.421A>C	1.37:g.20302208T>G	ENSP00000364252:p.Thr141Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.T141P	ENST00000375111.3	37	c.421	CCDS201.1	1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276154	0.23307	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.11712	2.75;2.75	5.2	-7.0	0.01599	Phospholipase A2 (2);	1.584300	0.04065	N	0.307126	T	0.08980	0.0222	L	0.39147	1.195	0.09310	N	1	B	0.29136	0.234	B	0.32583	0.148	T	0.35076	-0.9803	10	0.44086	T	0.13	.	5.6001	0.17349	0.2123:0.4099:0.0:0.3778	.	141	P14555	PA2GA_HUMAN	P	141	ENSP00000383364:T141P;ENSP00000364252:T141P	ENSP00000364252:T141P	T	-	1	0	PLA2G2A	20174795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.165000	0.03132	-1.243000	0.02519	0.460000	0.39030	ACC	PLA2G2A	-	superfamily_PLipase_A2	ENSG00000188257		0.502	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2A	HGNC	protein_coding	OTTHUMT00000007675.1	304	0.33	1	T	NM_000300		20302208	20302208	-1	no_errors	ENST00000375111	ensembl	human	known	69_37n	missense	236	15.36	43	SNP	0.000	G
PLA2G4A	5321	genome.wustl.edu	37	1	186901924	186901924	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:186901924T>G	ENST00000367466.3	+	8	740	c.588T>G	c.(586-588)ggT>ggG	p.G196G	PLA2G4A_ENST00000442353.2_Silent_p.G136G|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	196	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TGGGTTCAGGTGGGGGTTTCC	0.443																																						dbGAP											0													202.0	200.0	201.0					1																	186901924		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.588T>G	1.37:g.186901924T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG4|Q29R80	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.G196	ENST00000367466.3	37	c.588	CCDS1372.1	1																																																																																			PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000116711		0.443	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	108	0.00	0	T	NM_024420		186901924	186901924	+1	no_errors	ENST00000367466	ensembl	human	known	69_37n	silent	237	18.28	53	SNP	0.957	G
PLA2G4F	255189	genome.wustl.edu	37	15	42434401	42434401	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:42434401A>C	ENST00000382396.4	-	20	2417	c.2331T>G	c.(2329-2331)ggT>ggG	p.G777G	PLA2G4F_ENST00000397272.3_Splice_Site_p.G779G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	777	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTCGCTCCACACCTGTGGGTG	0.587																																						dbGAP											0													49.0	43.0	45.0					15																	42434401		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2330-1T>G	15.37:g.42434401A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMC8	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.G779	ENST00000382396.4	37	c.2337	CCDS32204.1	15																																																																																			PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	54	0.00	0	A	NM_213600	Silent	42434401	42434401	-1	no_errors	ENST00000397272	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.997	C
PLA2R1	22925	genome.wustl.edu	37	2	160901383	160901383	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160901383A>C	ENST00000283243.7	-	2	601	c.395T>G	c.(394-396)gTg>gGg	p.V132G	PLA2R1_ENST00000392771.1_Missense_Mutation_p.V132G	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	132	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTCATGCGCCACCTGGACAGA	0.483																																						dbGAP											0													82.0	82.0	82.0					2																	160901383		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.395T>G	2.37:g.160901383A>C	ENSP00000283243:p.Val132Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.V132G	ENST00000283243.7	37	c.395	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413102	0.25465	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.34472	1.36;1.36	6.07	2.35	0.29111	Ricin B-related lectin (1);Ricin B lectin (1);	0.279529	0.33875	N	0.004466	T	0.46249	0.1383	M	0.78049	2.395	0.80722	D	1	B;D;D	0.69078	0.029;0.997;0.995	B;P;P	0.53593	0.028;0.73;0.674	T	0.39502	-0.9611	10	0.72032	D	0.01	.	5.5412	0.17039	0.6635:0.1343:0.2022:0.0	.	132;132;132	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	G	132	ENSP00000283243:V132G;ENSP00000376524:V132G	ENSP00000283243:V132G	V	-	2	0	PLA2R1	160609629	0.964000	0.33143	0.854000	0.33618	0.106000	0.19336	1.674000	0.37544	0.166000	0.19597	0.533000	0.62120	GTG	PLA2R1	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin	ENSG00000153246		0.483	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	213	0.47	1	A			160901383	160901383	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	missense	191	11.57	25	SNP	0.904	C
PLAGL2	5326	genome.wustl.edu	37	20	30784392	30784392	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:30784392T>G	ENST00000246229.4	-	3	1618	c.1354A>C	c.(1354-1356)Act>Cct	p.T452P		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	452					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTTGCAAAGTGGTAAGCAGG	0.612																																					Colon(163;15 1893 11280 16306 47518)	dbGAP											0													42.0	43.0	42.0					20																	30784392		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1354A>C	20.37:g.30784392T>G	ENSP00000246229:p.Thr452Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T452P	ENST00000246229.4	37	c.1354	CCDS13197.1	20	.	.	.	.	.	.	.	.	.	.	T	11.09	1.535595	0.27475	.	.	ENSG00000126003	ENST00000246229	T	0.08634	3.07	5.0	5.0	0.66597	.	0.059404	0.64402	D	0.000001	T	0.05640	0.0148	N	0.08118	0	0.41044	D	0.985254	B	0.22604	0.072	B	0.25291	0.059	T	0.45512	-0.9256	10	0.32370	T	0.25	.	14.8943	0.70633	0.0:0.0:0.0:1.0	.	452	Q9UPG8	PLAL2_HUMAN	P	452	ENSP00000246229:T452P	ENSP00000246229:T452P	T	-	1	0	PLAGL2	30248053	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.824000	0.55723	2.099000	0.63709	0.533000	0.62120	ACT	PLAGL2	-	NULL	ENSG00000126003		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL2	HGNC	protein_coding	OTTHUMT00000078615.2	62	0.00	0	T	NM_002657		30784392	30784392	-1	no_errors	ENST00000246229	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	1.000	G
PLAT	5327	genome.wustl.edu	37	8	42046508	42046508	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:42046508A>C	ENST00000220809.4	-	4	453	c.197T>G	c.(196-198)gTg>gGg	p.V66G	PLAT_ENST00000524009.1_Missense_Mutation_p.V66G|PLAT_ENST00000429089.2_Missense_Mutation_p.V66G|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.V66G|PLAT_ENST00000519510.1_Missense_Mutation_p.V66G|PLAT_ENST00000429710.2_Missense_Mutation_p.V66G	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	66	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCAATATTCCACCCGGTTGCT	0.527																																						dbGAP											0													249.0	244.0	246.0					8																	42046508		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.197T>G	8.37:g.42046508A>C	ENSP00000220809:p.Val66Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V66G	ENST00000220809.4	37	c.197	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494225	0.44352	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.2	5.2	0.72013	Fibronectin, type I (4);Complement control module (1);	0.453694	0.23215	N	0.050638	T	0.69052	0.3068	M	0.80616	2.505	0.46678	D	0.999156	D;D;D;P	0.76494	0.999;0.998;0.999;0.845	D;D;D;P	0.70716	0.963;0.963;0.97;0.635	T	0.73917	-0.3831	10	0.87932	D	0	.	13.68	0.62479	1.0:0.0:0.0:0.0	.	66;66;66;66	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	G	66	ENSP00000270189:V66G;ENSP00000392045:V66G;ENSP00000220809:V66G;ENSP00000428886:V66G;ENSP00000407861:V66G;ENSP00000429401:V66G;ENSP00000428797:V66G;ENSP00000429801:V66G	ENSP00000220809:V66G	V	-	2	0	PLAT	42165665	0.448000	0.25681	0.199000	0.23439	0.009000	0.06853	4.813000	0.62620	1.978000	0.57642	0.529000	0.55759	GTG	PLAT	-	pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1	ENSG00000104368		0.527	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	230	0.43	1	A	NM_000930		42046508	42046508	-1	no_errors	ENST00000220809	ensembl	human	known	69_37n	missense	190	21.72	53	SNP	0.448	C
C10orf55	414236	genome.wustl.edu	37	10	75675063	75675063	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:75675063A>C	ENST00000409178.1	-	2	268				PLAU_ENST00000372764.3_Missense_Mutation_p.H342P|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.H325P|PLAU_ENST00000372762.4_Missense_Mutation_p.H306P	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CTGATTTCCCACCGGGAGTGT	0.512																																						dbGAP											0													96.0	93.0	94.0					10																	75675063		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+1213T>G	10.37:g.75675063A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H342P	ENST00000409178.1	37	c.1025	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777565	0.49786	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88431	-2.38;-2.38;-2.38	5.74	5.74	0.90152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.573922	0.20713	N	0.087052	D	0.87269	0.6135	N	0.16233	0.39	0.80722	D	1	B;B;D;B	0.61080	0.003;0.004;0.989;0.002	B;B;P;B	0.55999	0.006;0.017;0.789;0.007	D	0.88086	0.2810	10	0.49607	T	0.09	.	13.9942	0.64386	1.0:0.0:0.0:0.0	.	325;306;342;342	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	P	325;342;306;306	ENSP00000388474:H325P;ENSP00000361850:H342P;ENSP00000361848:H306P	ENSP00000361847:H306P	H	+	2	0	PLAU	75345069	0.354000	0.24912	0.114000	0.21550	0.559000	0.35586	3.437000	0.52863	2.192000	0.70111	0.533000	0.62120	CAC	PLAU	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000122861		0.512	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	66	0.00	0	A	NM_001001791		75675063	75675063	+1	no_errors	ENST00000372764	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	0.095	C
PLB1	151056	genome.wustl.edu	37	2	28828763	28828763	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:28828763A>C	ENST00000327757.5	+	42	3049	c.3005A>C	c.(3004-3006)cAc>cCc	p.H1002P	PLB1_ENST00000422425.2_Missense_Mutation_p.H991P|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1002	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GACTGCATCCACCCAAATCAG	0.517																																						dbGAP											0													187.0	185.0	185.0					2																	28828763		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3005A>C	2.37:g.28828763A>C	ENSP00000330442:p.His1002Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.H991P	ENST00000327757.5	37	c.2972	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.87|12.87	2.068628|2.068628	0.36470|0.36470	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	D;D|.	0.94457|.	-3.43;-3.43|.	5.34|5.34	2.72|2.72	0.32119|0.32119	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.467740|.	0.19636|.	N|.	0.109577|.	T|T	0.78413|0.78413	0.4279|0.4279	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	B;B|.	0.25809|.	0.135;0.131|.	B;B|.	0.22152|.	0.037;0.038|.	T|T	0.78081|0.78081	-0.2343|-0.2343	10|5	0.87932|.	D|.	0|.	-3.2147|-3.2147	8.9103|8.9103	0.35548|0.35548	0.6485:0.0:0.0:0.3515|0.6485:0.0:0.0:0.3515	.|.	991;1002|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	P|P	1002;991|990	ENSP00000330442:H1002P;ENSP00000416440:H991P|.	ENSP00000330442:H1002P|.	H|T	+|+	2|1	0|0	PLB1|PLB1	28682267|28682267	1.000000|1.000000	0.71417|0.71417	0.776000|0.776000	0.31678|0.31678	0.822000|0.822000	0.46500|0.46500	2.743000|2.743000	0.47442|0.47442	0.209000|0.209000	0.20645|0.20645	0.459000|0.459000	0.35465|0.35465	CAC|ACC	PLB1	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	ENSG00000163803		0.517	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	235	0.00	0	A			28828763	28828763	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	missense	209	10.30	24	SNP	0.997	C
PLCB1	23236	genome.wustl.edu	37	20	8862276	8862276	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:8862276T>G	ENST00000338037.6	+	32	3458	c.3431T>G	c.(3430-3432)gTg>gGg	p.V1144G	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1144					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGCTGCAGGTGGAGCTGGAG	0.443																																						dbGAP											0													116.0	124.0	121.0					20																	8862276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3431T>G	20.37:g.8862276T>G	ENSP00000338185:p.Val1144Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V1144G	ENST00000338037.6	37	c.3431	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	T	8.853	0.944980	0.18356	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.39406	1.08	5.86	-2.21	0.06973	PLC-beta, C-terminal (1);	1.224310	0.05291	N	0.521024	T	0.20292	0.0488	N	0.08118	0	0.33350	D	0.570942	B	0.02656	0.0	B	0.04013	0.001	T	0.18871	-1.0323	10	0.26408	T	0.33	.	4.8001	0.13292	0.2166:0.314:0.0:0.4695	.	1144	Q9NQ66	PLCB1_HUMAN	G	1144;1064	ENSP00000338185:V1144G	ENSP00000338185:V1144G	V	+	2	0	PLCB1	8810276	0.961000	0.32948	0.275000	0.24674	0.996000	0.88848	0.029000	0.13666	-0.727000	0.04888	-0.333000	0.08304	GTG	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C	ENSG00000182621		0.443	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	316	0.00	0	T			8862276	8862276	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	252	13.65	40	SNP	0.631	G
PLEK	5341	genome.wustl.edu	37	2	68607934	68607934	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:68607934T>G	ENST00000234313.7	+	3	457	c.278T>G	c.(277-279)gTt>gGt	p.V93G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	93	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GATGCCTGGGTTCGGGATATC	0.468																																						dbGAP											0													130.0	129.0	129.0					2																	68607934		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.278T>G	2.37:g.68607934T>G	ENSP00000234313:p.Val93Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.V93G	ENST00000234313.7	37	c.278	CCDS1887.1	2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055067	0.75960	.	.	ENSG00000115956	ENST00000234313	T	0.15372	2.43	5.8	4.63	0.57726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.104482	0.64402	D	0.000004	T	0.48241	0.1489	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56763	-0.7925	10	0.87932	D	0	.	12.3079	0.54912	0.127:0.0:0.0:0.873	.	111;93	Q59GZ2;P08567	.;PLEK_HUMAN	G	93	ENSP00000234313:V93G	ENSP00000234313:V93G	V	+	2	0	PLEK	68461438	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.954000	0.70298	1.004000	0.39156	-0.336000	0.08194	GTT	PLEK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115956		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	HGNC	protein_coding	OTTHUMT00000251755.1	319	0.31	1	T	NM_002664		68607934	68607934	+1	no_errors	ENST00000234313	ensembl	human	known	69_37n	missense	218	10.20	25	SNP	1.000	G
PLEK	5341	genome.wustl.edu	37	2	68620343	68620343	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:68620343A>C	ENST00000234313.7	+	7	991	c.812A>C	c.(811-813)gAc>gCc	p.D271A		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	271	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TTGAGAGAAGACCCTGCCTAC	0.433																																						dbGAP											0													179.0	162.0	167.0					2																	68620343		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.812A>C	2.37:g.68620343A>C	ENSP00000234313:p.Asp271Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.D271A	ENST00000234313.7	37	c.812	CCDS1887.1	2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794465	0.90453	.	.	ENSG00000115956	ENST00000234313	T	0.33438	1.41	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.041854	0.85682	D	0.000000	T	0.60143	0.2246	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.66152	-0.5995	10	0.87932	D	0	.	15.7711	0.78170	1.0:0.0:0.0:0.0	.	289;271	Q59GZ2;P08567	.;PLEK_HUMAN	A	271	ENSP00000234313:D271A	ENSP00000234313:D271A	D	+	2	0	PLEK	68473847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.215000	0.71742	0.459000	0.35465	GAC	PLEK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115956		0.433	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	HGNC	protein_coding	OTTHUMT00000251755.1	433	0.46	2	A	NM_002664		68620343	68620343	+1	no_errors	ENST00000234313	ensembl	human	known	69_37n	missense	395	13.91	64	SNP	1.000	C
PLCL1	5334	genome.wustl.edu	37	2	198953724	198953724	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:198953724A>C	ENST00000428675.1	+	3	3256	c.2858A>C	c.(2857-2859)tAc>tCc	p.Y953S	PLCL1_ENST00000437704.2_Missense_Mutation_p.Y855S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	953					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCTTTCCTTACCTGGAGCCT	0.453																																						dbGAP											0													179.0	179.0	179.0					2																	198953724		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2858A>C	2.37:g.198953724A>C	ENSP00000402861:p.Tyr953Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.Y953S	ENST00000428675.1	37	c.2858	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	A	9.761	1.170168	0.21621	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.15256	2.44;2.45	5.13	5.13	0.70059	.	0.000000	0.53938	D	0.000059	T	0.11239	0.0274	N	0.22421	0.69	0.42790	D	0.993891	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.003	T	0.16541	-1.0399	9	.	.	.	.	10.9506	0.47327	0.8601:0.0:0.0:0.1399	.	953;879	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	953;855	ENSP00000402861:Y953S;ENSP00000414138:Y855S	.	Y	+	2	0	PLCL1	198661969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.990000	0.56965	2.150000	0.67090	0.528000	0.53228	TAC	PLCL1	-	NULL	ENSG00000115896		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	598	0.00	0	A	NM_006226		198953724	198953724	+1	no_errors	ENST00000428675	ensembl	human	known	69_37n	missense	426	11.18	54	SNP	1.000	C
PLCD4	84812	genome.wustl.edu	37	2	219500656	219500656	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:219500656T>G	ENST00000450993.2	+	14	2371		c.e14+2		RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Splice_Site|PLCD4_ENST00000417849.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4						acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAACAATGGTGAGAAACTGG	0.493																																						dbGAP											0													67.0	69.0	69.0					2																	219500656		1981	4154	6135	-	-	-	SO:0001630	splice_region_variant	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2032+2T>G	2.37:g.219500656T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS8	Splice_Site	SNP	-	e13+2	ENST00000450993.2	37	c.2032+2	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854456	0.71719	.	.	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688;ENST00000457773	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCD4	219208900	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.712000	0.84684	2.333000	0.79357	0.533000	0.62120	.	PLCD4	-	-	ENSG00000115556		0.493	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	50	0.00	0	T		Intron	219500656	219500656	+1	no_errors	ENST00000417849	ensembl	human	known	69_37n	splice_site	44	16.98	9	SNP	1.000	G
PLEKHA2	59339	genome.wustl.edu	37	8	38808379	38808379	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:38808379T>G	ENST00000521746.1	+	6	591	c.357T>G	c.(355-357)ggT>ggG	p.G119G	PLEKHA2_ENST00000420274.1_Silent_p.G119G|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	119					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TTCCCAAAGGTGGGGGCCTAC	0.542																																						dbGAP											0													43.0	44.0	43.0					8																	38808379		1903	4128	6031	-	-	-	SO:0001819	synonymous_variant	0			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.357T>G	8.37:g.38808379T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G119	ENST00000521746.1	37	c.357		8																																																																																			PLEKHA2	-	NULL	ENSG00000169499		0.542	PLEKHA2-002	PUTATIVE	basic	protein_coding	PLEKHA2	HGNC	protein_coding	OTTHUMT00000377068.1	40	0.00	0	T	NM_021623		38808379	38808379	+1	no_errors	ENST00000420274	ensembl	human	known	69_37n	silent	41	17.65	9	SNP	0.149	G
PLEKHA3	65977	genome.wustl.edu	37	2	179360369	179360369	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179360369A>C	ENST00000234453.5	+	5	999	c.597A>C	c.(595-597)tcA>tcC	p.S199S		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	199						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CTCCTGTGTCACCTTCTCCTG	0.388																																						dbGAP											0													192.0	168.0	176.0					2																	179360369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.597A>C	2.37:g.179360369A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S199	ENST00000234453.5	37	c.597	CCDS33336.1	2																																																																																			PLEKHA3	-	NULL	ENSG00000116095		0.388	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	HGNC	protein_coding	OTTHUMT00000335241.2	274	0.00	0	A	NM_019091		179360369	179360369	+1	no_errors	ENST00000234453	ensembl	human	known	69_37n	silent	202	11.01	25	SNP	1.000	C
PLEKHA7	144100	genome.wustl.edu	37	11	16816095	16816095	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:16816095T>G	ENST00000355661.3	-	19	2695	c.2685A>C	c.(2683-2685)ccA>ccC	p.P895P	PLEKHA7_ENST00000448080.2_Silent_p.P895P|PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P895P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	895	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCAGCTGGGGTGGGTGAGGTC	0.582																																						dbGAP											0													68.0	73.0	71.0					11																	16816095		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2685A>C	11.37:g.16816095T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	NULL	p.H526P	ENST00000355661.3	37	c.1577	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	T	8.984	0.976112	0.18736	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.68743	-0.5328	4	.	.	.	-13.8276	13.1438	0.59450	0.1479:0.1613:0.0:0.6908	.	.	.	.	P	526	.	.	H	-	2	0	PLEKHA7	16772671	0.013000	0.17824	0.071000	0.20095	0.973000	0.67179	-3.003000	0.00651	-2.667000	0.00416	-0.912000	0.02778	CAC	PLEKHA7	-	NULL	ENSG00000166689		0.582	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	26	0.00	0	T	NM_175058		16816095	16816095	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530489	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.004	G
PLOD3	8985	genome.wustl.edu	37	7	100852180	100852180	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100852180A>C	ENST00000223127.3	-	16	2140	c.1742T>G	c.(1741-1743)gTg>gGg	p.V581G		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	581					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATCTCTGCCACCAGCTCATC	0.632																																						dbGAP											0													108.0	87.0	94.0					7																	100852180		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1742T>G	7.37:g.100852180A>C	ENSP00000223127:p.Val581Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.V581G	ENST00000223127.3	37	c.1742	CCDS5715.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.434510|4.434510	0.83776|0.83776	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127|ENST00000454310	D|.	0.85484|.	-1.99|.	4.36|4.36	4.36|4.36	0.52297|0.52297	Prolyl 4-hydroxylase, alpha subunit (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.76140|0.76140	0.3946|0.3946	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.78902|0.78902	-0.2021|-0.2021	10|5	0.87932|.	D|.	0|.	-13.6611|-13.6611	11.8121|11.8121	0.52189|0.52189	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	208;581|.	Q9UG85;O60568|.	.;PLOD3_HUMAN|.	G|G	581|156	ENSP00000223127:V581G|.	ENSP00000223127:V581G|.	V|W	-|-	2|1	0|0	PLOD3|PLOD3	100638900|100638900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.973000|8.973000	0.93428|0.93428	1.749000|1.749000	0.51849|0.51849	0.459000|0.459000	0.35465|0.35465	GTG|TGG	PLOD3	-	smart_Pro_4_hyd_alph	ENSG00000106397		0.632	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	69	0.00	0	A			100852180	100852180	-1	no_errors	ENST00000223127	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	1.000	C
PLXDC2	84898	genome.wustl.edu	37	10	20506433	20506433	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:20506433A>C	ENST00000377252.4	+	11	2042	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T352P|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	401	Thr-rich.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGCGACAACCACCCAGTTCAG	0.453																																						dbGAP											0													102.0	90.0	94.0					10																	20506433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1201A>C	10.37:g.20506433A>C	ENSP00000366460:p.Thr401Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.T401P	ENST00000377252.4	37	c.1201	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	A	7.876	0.729228	0.15507	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.24723	1.84;1.84	5.55	4.42	0.53409	.	0.353444	0.36628	N	0.002495	T	0.22166	0.0534	L	0.54323	1.7	0.30133	N	0.804629	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18493	-1.0335	10	0.18710	T	0.47	.	9.2162	0.37348	0.9163:0.0:0.0837:0.0	.	352;401	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	P	401;352;264;387	ENSP00000366460:T401P;ENSP00000366450:T352P	ENSP00000366446:T264P	T	+	1	0	PLXDC2	20546439	0.985000	0.35326	0.073000	0.20177	0.319000	0.28217	4.386000	0.59620	0.955000	0.37878	0.460000	0.39030	ACC	PLXDC2	-	NULL	ENSG00000120594		0.453	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	214	0.46	1	A	NM_032812		20506433	20506433	+1	no_errors	ENST00000377252	ensembl	human	known	69_37n	missense	211	14.92	37	SNP	0.702	C
PMFBP1	83449	genome.wustl.edu	37	16	72188315	72188315	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:72188315A>C	ENST00000237353.10	-	4	470	c.209T>G	c.(208-210)gTg>gGg	p.V70G	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000537465.1_Missense_Mutation_p.V70G|PMFBP1_ENST00000543746.1_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	70						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCCAAATTCCACCTCTGACTC	0.433																																						dbGAP											0													160.0	140.0	147.0					16																	72188315		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.209T>G	16.37:g.72188315A>C	ENSP00000237353:p.Val70Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.V70G	ENST00000237353.10	37	c.209	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224092	0.58668	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172	T;T	0.12774	2.65;2.65	5.9	0.94	0.19513	.	0.576969	0.17055	N	0.188793	T	0.05456	0.0144	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31503	-0.9941	10	0.25106	T	0.35	-1.5751	0.8179	0.01106	0.4961:0.1671:0.1767:0.1601	.	70;70	Q8TBY8-2;G3V1Q7	.;.	G	70	ENSP00000443817:V70G;ENSP00000237353:V70G	ENSP00000237353:V70G	V	-	2	0	PMFBP1	70745816	0.001000	0.12720	0.003000	0.11579	0.710000	0.40934	0.507000	0.22675	1.072000	0.40860	0.528000	0.53228	GTG	PMFBP1	-	NULL	ENSG00000118557		0.433	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	177	0.56	1	A	NM_031293		72188315	72188315	-1	no_errors	ENST00000537465	ensembl	human	known	69_37n	missense	162	16.92	33	SNP	0.000	C
PML	5371	genome.wustl.edu	37	15	74327676	74327676	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:74327676A>C	ENST00000268058.3	+	7	1806				PML_ENST00000395135.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569477.1_Silent_p.P638P|PML_ENST00000354026.6_Missense_Mutation_p.H577P|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268059.6_Missense_Mutation_p.H625P|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000359928.4_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGGCCTCCCCACCAGCCCGCT	0.682			T	"""RARA, PAX5"""	"""APL, ALL"""																																	dbGAP		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													51.0	57.0	55.0					15																	74327676		2198	4296	6494	-	-	-	SO:0001627	intron_variant	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+805A>C	15.37:g.74327676A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.H625P	ENST00000268058.3	37	c.1874	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295713	0.23564	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.03	-2.37	0.06643	.	.	.	.	.	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.18808	-1.0325	8	0.72032	D	0.01	.	3.844	0.08926	0.3623:0.3964:0.2413:0.0	.	577;625	P29590-13;P29590-8	.;.	P	625;577	.	ENSP00000268059:H625P	H	+	2	0	PML	72114729	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.781000	0.04648	-0.526000	0.06383	0.402000	0.26972	CAC	PML	-	NULL	ENSG00000140464		0.682	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	111	0.88	1	A	NM_002675		74327676	74327676	+1	no_errors	ENST00000268059	ensembl	human	known	69_37n	missense	117	18.18	26	SNP	0.000	C
PMM1	5372	genome.wustl.edu	37	22	41982380	41982380	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:41982380A>C	ENST00000216259.7	-	2	172				PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						caatcccaacactttgcgagg	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.88-183T>G	22.37:g.41982380A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K003|Q92586	RNA	SNP	-	NULL	ENST00000216259.7	37	NULL	CCDS14020.1	22																																																																																			PMM1	-	-	ENSG00000100417		0.453	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM1	HGNC	protein_coding	OTTHUMT00000320711.3	17	0.00	0	A	NM_002676		41982380	41982380	-1	no_errors	ENST00000466645	ensembl	human	known	69_37n	rna	17	22.73	5	SNP	0.013	C
RSPH10B2	728194	genome.wustl.edu	37	7	6791145	6791145	+	5'Flank	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:6791145A>C	ENST00000403107.1	+	0	0				RSPH10B2_ENST00000404077.1_5'Flank|PMS2CL_ENST00000486256.1_RNA			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TACACATCACACCCATTTAAA	0.338																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856		7.37:g.6791145A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	RNA	SNP	-	NULL	ENST00000403107.1	37	NULL	CCDS43552.1	7																																																																																			PMS2CL	-	-	ENSG00000187953		0.338	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2CL	HGNC	protein_coding	OTTHUMT00000324184.4	38	0.00	0	A	NM_001099697		6791145	6791145	+1	no_errors	ENST00000486256	ensembl	human	known	69_37n	rna	38	17.02	8	SNP	0.004	C
PMVK	10654	genome.wustl.edu	37	1	154897738	154897738	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154897738A>C	ENST00000368467.3	-	5	751	c.446T>G	c.(445-447)gTg>gGg	p.V149G		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	149					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCATCGTCCACCCCTATGAA	0.592																																						dbGAP											0													204.0	195.0	198.0					1																	154897738		2203	4300	6503	-	-	-	SO:0001583	missense	0			L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.446T>G	1.37:g.154897738A>C	ENSP00000357452:p.Val149Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZW9	Missense_Mutation	SNP	pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim	p.V149G	ENST00000368467.3	37	c.446	CCDS1073.1	1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869612	0.51588	.	.	ENSG00000163344	ENST00000368467	T	0.45276	0.9	5.25	5.25	0.73442	.	0.130046	0.51477	D	0.000081	T	0.58192	0.2105	M	0.87180	2.865	0.80722	D	1	D	0.53745	0.962	D	0.64237	0.923	T	0.66748	-0.5845	10	0.87932	D	0	-20.6387	11.4547	0.50173	1.0:0.0:0.0:0.0	.	149	Q15126	PMVK_HUMAN	G	149	ENSP00000357452:V149G	ENSP00000357452:V149G	V	-	2	0	PMVK	153164362	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	6.668000	0.74457	2.205000	0.71048	0.402000	0.26972	GTG	PMVK	-	pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim	ENSG00000163344		0.592	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMVK	HGNC	protein_coding	OTTHUMT00000091088.1	428	0.46	2	A	NM_006556		154897738	154897738	-1	no_errors	ENST00000368467	ensembl	human	known	69_37n	missense	545	10.60	65	SNP	1.000	C
PNLDC1	154197	genome.wustl.edu	37	6	160234652	160234652	+	Missense_Mutation	SNP	T	T	G	rs576178012		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:160234652T>G	ENST00000610273.1	+	12	1097	c.926T>G	c.(925-927)gTg>gGg	p.V309G	PNLDC1_ENST00000392167.3_Missense_Mutation_p.V320G	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	309						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)		TTCCCGAGGGTGTCGAATCTT	0.493																																						dbGAP											0													172.0	169.0	170.0					6																	160234652		2203	4300	6503	-	-	-	SO:0001583	missense	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.926T>G	6.37:g.160234652T>G	ENSP00000476448:p.Val309Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.V309G	ENST00000610273.1	37	c.926	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351482	0.24512	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.21191	2.02;2.02	5.84	4.71	0.59529	Ribonuclease H-like (1);	0.326580	0.25951	N	0.027248	T	0.04634	0.0126	N	0.21373	0.66	0.58432	D	0.999996	P;B	0.38078	0.617;0.01	B;B	0.37144	0.242;0.033	T	0.22941	-1.0202	10	0.14252	T	0.57	.	5.404	0.16310	0.0:0.1432:0.0:0.8568	.	320;309	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	G	309;320	ENSP00000275275:V309G;ENSP00000376007:V320G	ENSP00000275275:V309G	V	+	2	0	PNLDC1	160154642	1.000000	0.71417	0.494000	0.27515	0.049000	0.14656	2.093000	0.41710	2.234000	0.73211	0.523000	0.50628	GTG	PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000146453		0.493	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		124	0.00	0	T	NM_173516		160234652	160234652	+1	no_errors	ENST00000275275	ensembl	human	known	69_37n	missense	171	12.24	24	SNP	0.930	G
PNMA3	29944	genome.wustl.edu	37	X	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:152225996_152225997insG	ENST00000370264.4	+	1	610_611	c.584_585insG	c.(583-588)caggtgfs	p.V196fs	PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.V196fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.V196fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	196					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.586dupG	X.37:g.152225998_152225998dupG	ENSP00000359286:p.Val196fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.V196fs	ENST00000370264.4	37	c.584_585	CCDS35435.2	X																																																																																			PNMA3	-	NULL	ENSG00000183837		0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	46	0.00	0	-	NM_013364		152225996	152225997	+1	no_errors	ENST00000370264	ensembl	human	known	69_37n	frame_shift_ins	49	12.50	7	INS	0.534:0.465	G
PNMAL1	55228	genome.wustl.edu	37	19	46973466	46973466	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:46973466A>C	ENST00000313683.10	-	2	1132	c.827T>G	c.(826-828)gTg>gGg	p.V276G	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.V276G	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	276										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCATCACCCACCTCAGGATC	0.507																																						dbGAP											0													102.0	104.0	103.0					19																	46973466		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.827T>G	19.37:g.46973466A>C	ENSP00000318131:p.Val276Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	NULL	p.V276G	ENST00000313683.10	37	c.827	CCDS33059.1	19	.	.	.	.	.	.	.	.	.	.	A	10.34	1.324523	0.24080	.	.	ENSG00000182013	ENST00000438932;ENST00000313683	T;T	0.13196	2.61;2.61	3.58	-2.68	0.06041	.	0.765399	0.11143	N	0.595092	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35201	-0.9798	10	0.38643	T	0.18	-1.0539	4.2231	0.10567	0.4231:0.1725:0.4044:0.0	.	276;276	Q86V59-2;Q86V59	.;PNML1_HUMAN	G	276	ENSP00000410273:V276G;ENSP00000318131:V276G	ENSP00000318131:V276G	V	-	2	0	PNMAL1	51665306	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.193000	0.09573	-0.360000	0.08138	-0.202000	0.12741	GTG	PNMAL1	-	NULL	ENSG00000182013		0.507	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1	150	0.66	1	A	NM_018215		46973466	46973466	-1	no_errors	ENST00000313683	ensembl	human	known	69_37n	missense	106	20.74	28	SNP	0.000	C
PNMAL1	55228	genome.wustl.edu	37	19	46974253	46974253	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:46974253A>C	ENST00000313683.10	-	2	345	c.40T>G	c.(40-42)Tgc>Ggc	p.C14G	PNMAL1_ENST00000602246.1_Missense_Mutation_p.C14G|PNMAL1_ENST00000438932.2_Missense_Mutation_p.C14G	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	14										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		attcccctgcaccaatcctcc	0.527																																						dbGAP											0													91.0	86.0	88.0					19																	46974253		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.40T>G	19.37:g.46974253A>C	ENSP00000318131:p.Cys14Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	NULL	p.C14G	ENST00000313683.10	37	c.40	CCDS33059.1	19	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927197	0.73327	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.37584	1.19;1.19	3.94	3.94	0.45596	.	0.000000	0.44483	D	0.000454	T	0.59362	0.2188	M	0.84326	2.69	0.37278	D	0.907719	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68682	-0.5344	10	0.87932	D	0	-15.8329	9.4907	0.38958	1.0:0.0:0.0:0.0	.	14;14	Q86V59-2;Q86V59	.;PNML1_HUMAN	G	14	ENSP00000410273:C14G;ENSP00000318131:C14G	ENSP00000318131:C14G	C	-	1	0	PNMAL1	51666093	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.462000	0.45049	2.016000	0.59253	0.533000	0.62120	TGC	PNMAL1	-	NULL	ENSG00000182013		0.527	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1	73	0.00	0	A	NM_018215		46974253	46974253	-1	no_errors	ENST00000313683	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	C
POC1B	282809	genome.wustl.edu	37	12	89819118	89819118	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:89819118A>C	ENST00000313546.3	-	11	1280	c.1152T>G	c.(1150-1152)ggT>ggG	p.G384G	POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000393179.4_Silent_p.G254G|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.G342G	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	384					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AGGCCTCTTCACCCTTGTCTG	0.388																																						dbGAP											0													118.0	111.0	113.0					12																	89819118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1152T>G	12.37:g.89819118A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1X0	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G384	ENST00000313546.3	37	c.1152	CCDS31869.1	12																																																																																			POC1B	-	NULL	ENSG00000139323		0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	221	0.45	1	A	NM_172240		89819118	89819118	-1	no_errors	ENST00000313546	ensembl	human	known	69_37n	silent	151	26.34	54	SNP	0.999	C
POFUT2	23275	genome.wustl.edu	37	21	46697041	46697041	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:46697041A>C	ENST00000349485.5	-	6	748	c.722T>G	c.(721-723)gTg>gGg	p.V241G	POFUT2_ENST00000331343.7_Missense_Mutation_p.V241G|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	241					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCTGGCAAACACCATGCTGCG	0.662																																						dbGAP											0													111.0	87.0	95.0					21																	46697041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.722T>G	21.37:g.46697041A>C	ENSP00000339613:p.Val241Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749	p.V241G	ENST00000349485.5	37	c.722	CCDS13719.1	21	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947761	0.73787	.	.	ENSG00000186866	ENST00000331343;ENST00000349485	T;T	0.31247	1.5;1.5	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.76002	2.32	0.80722	D	1	D;D	0.59767	0.985;0.986	P;P	0.62813	0.65;0.907	T	0.51012	-0.8759	10	0.42905	T	0.14	-43.2007	11.7481	0.51832	1.0:0.0:0.0:0.0	.	241;241	Q9Y2G5-1;Q9Y2G5	.;OFUT2_HUMAN	G	241	ENSP00000329682:V241G;ENSP00000339613:V241G	ENSP00000329682:V241G	V	-	2	0	POFUT2	45521469	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.587000	0.90810	1.717000	0.51406	0.402000	0.26972	GTG	POFUT2	-	pfam_GDP-Fuc_O-FucTrfase	ENSG00000186866		0.662	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	HGNC	protein_coding	OTTHUMT00000192573.2	26	0.00	0	A	NM_015227		46697041	46697041	-1	no_errors	ENST00000349485	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	C
POLA1	5422	genome.wustl.edu	37	X	24906169	24906169	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:24906169A>C	ENST00000379059.3	+	35	4091	c.4076A>C	c.(4075-4077)cAc>cCc	p.H1359P	POLA1_ENST00000379068.3_Missense_Mutation_p.H1365P	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1359	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CGAACTCGTCACCTTCCCCTT	0.463																																						dbGAP											0													155.0	120.0	132.0					X																	24906169		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.4076A>C	X.37:g.24906169A>C	ENSP00000368349:p.His1359Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.H1365P	ENST00000379059.3	37	c.4094	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570702	0.45798	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17370	2.28;2.28	5.58	1.91	0.25777	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.174426	0.49305	D	0.000157	T	0.08179	0.0204	N	0.08118	0	0.37255	D	0.906714	B	0.28850	0.225	B	0.30855	0.121	T	0.30736	-0.9968	10	0.36615	T	0.2	-1.7959	8.0956	0.30826	0.2892:0.0:0.7108:0.0	.	1359	P09884	DPOLA_HUMAN	P	1365;1359	ENSP00000368358:H1365P;ENSP00000368349:H1359P	ENSP00000368349:H1359P	H	+	2	0	POLA1	24816090	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.053000	0.57427	0.257000	0.21650	0.486000	0.48141	CAC	POLA1	-	pfam_Znf_DNA-dir_DNA_pol_B_alpha	ENSG00000101868		0.463	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	148	0.67	1	A	NM_016937		24906169	24906169	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	120	16.44	24	SNP	0.994	C
POLA2	23649	genome.wustl.edu	37	11	65061668	65061668	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:65061668A>C	ENST00000265465.3	+	14	1820	c.1289A>C	c.(1288-1290)cAc>cCc	p.H430P	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.H222P	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	430					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGAGATGTGCACCATGAGCCT	0.527																																						dbGAP											0													372.0	371.0	371.0					11																	65061668		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1289A>C	11.37:g.65061668A>C	ENSP00000265465:p.His430Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.H430P	ENST00000265465.3	37	c.1289	CCDS8098.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.4|25.4	4.634649|4.634649	0.87660|0.87660	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.29655|.	1.56;1.56|.	5.93|5.93	5.93|5.93	0.95920|0.95920	DNA polymerase alpha/epsilon, subunit B (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78755|0.78755	0.4333|0.4333	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|.	0.61080|.	0.981;0.989|.	D;D|.	0.67382|.	0.951;0.951|.	T|T	0.81127|0.81127	-0.1074|-0.1074	10|5	0.39692|.	T|.	0.17|.	-20.3937|-20.3937	14.3464|14.3464	0.66668|0.66668	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	222;430|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	P|P	430;222|100	ENSP00000265465:H430P;ENSP00000443222:H222P|.	ENSP00000265465:H430P|.	H|T	+|+	2|1	0|0	POLA2|POLA2	64818244|64818244	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.981000|0.981000	0.71138|0.71138	7.532000|7.532000	0.81985|0.81985	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CAC|ACC	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.527	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	302	0.98	3	A	NM_002689		65061668	65061668	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	missense	184	19.57	45	SNP	1.000	C
POLR2A	5430	genome.wustl.edu	37	17	7416965	7416965	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7416965A>C	ENST00000322644.6	+	29	5781	c.5382A>C	c.(5380-5382)tcA>tcC	p.S1794S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1794	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTCCAACATCACCCAGCTATT	0.552																																						dbGAP											0													531.0	519.0	523.0					17																	7416965		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5382A>C	17.37:g.7416965A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S1794	ENST00000322644.6	37	c.5382	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_II_repeat_euk	ENSG00000181222		0.552	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	939	0.74	7	A	NM_000937		7416965	7416965	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	silent	547	14.15	91	SNP	0.511	C
POLR2A	5430	genome.wustl.edu	37	17	7416986	7416986	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7416986A>C	ENST00000322644.6	+	29	5802	c.5403A>C	c.(5401-5403)tcA>tcC	p.S1801S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1801	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCCGACCTCACCAAGTTACT	0.562																																						dbGAP											0													494.0	474.0	481.0					17																	7416986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5403A>C	17.37:g.7416986A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S1801	ENST00000322644.6	37	c.5403	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_II_repeat_euk	ENSG00000181222		0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	886	0.56	5	A	NM_000937		7416986	7416986	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	silent	522	11.34	67	SNP	0.981	C
POLR2A	5430	genome.wustl.edu	37	17	7417038	7417038	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7417038A>C	ENST00000322644.6	+	29	5854	c.5455A>C	c.(5455-5457)Acc>Ccc	p.T1819P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1819	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCCAACCTATACCCCAAGCTC	0.577																																						dbGAP											0													308.0	291.0	297.0					17																	7417038		2203	4300	6503	-	-	-	SO:0001583	missense	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5455A>C	17.37:g.7417038A>C	ENSP00000314949:p.Thr1819Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.T1819P	ENST00000322644.6	37	c.5455	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747692	0.30955	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.71698	-0.59	3.4	3.4	0.38934	.	1.473290	0.05602	U	0.576505	T	0.70325	0.3211	M	0.64404	1.975	0.80722	D	1	B	0.18166	0.026	B	0.13407	0.009	T	0.60188	-0.7312	10	0.54805	T	0.06	.	11.3013	0.49306	1.0:0.0:0.0:0.0	.	1819	P24928	RPB1_HUMAN	P	1775;718;1819	ENSP00000314949:T1819P	ENSP00000314949:T1819P	T	+	1	0	SLC35G6	7357762	0.888000	0.30383	0.923000	0.36655	0.971000	0.66376	4.961000	0.63681	1.567000	0.49668	0.248000	0.18094	ACC	POLR2A	-	NULL	ENSG00000181222		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	680	0.72	5	A	NM_000937		7417038	7417038	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	missense	370	15.23	67	SNP	1.000	C
POLR2A	5430	genome.wustl.edu	37	17	7417049	7417049	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7417049A>C	ENST00000322644.6	+	29	5865	c.5466A>C	c.(5464-5466)tcA>tcC	p.S1822S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1822	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCCAAGCTCAcccagctaca	0.577																																						dbGAP											0													280.0	264.0	269.0					17																	7417049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5466A>C	17.37:g.7417049A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S1822	ENST00000322644.6	37	c.5466	CCDS32548.1	17																																																																																			POLR2A	-	NULL	ENSG00000181222		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	622	0.95	6	A	NM_000937		7417049	7417049	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	silent	325	22.20	93	SNP	0.053	C
POLR2A	5430	genome.wustl.edu	37	17	7417091	7417091	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7417091A>C	ENST00000322644.6	+	29	5907	c.5508A>C	c.(5506-5508)tcA>tcC	p.S1836S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1836	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				gcccagcCTCACCCAAGTACA	0.567																																						dbGAP											0													238.0	223.0	228.0					17																	7417091		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5508A>C	17.37:g.7417091A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S1836	ENST00000322644.6	37	c.5508	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_II_repeat_euk	ENSG00000181222		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	529	0.56	3	A	NM_000937		7417091	7417091	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	silent	277	16.72	56	SNP	0.439	C
POLR2A	5430	genome.wustl.edu	37	17	7417101	7417101	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7417101A>C	ENST00000322644.6	+	29	5917	c.5518A>C	c.(5518-5520)Acc>Ccc	p.T1840P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1840	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCAAGTACACCCCAACCAG	0.567																																						dbGAP											0													241.0	228.0	232.0					17																	7417101		2203	4300	6503	-	-	-	SO:0001583	missense	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5518A>C	17.37:g.7417101A>C	ENSP00000314949:p.Thr1840Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.T1840P	ENST00000322644.6	37	c.5518	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531193	0.45073	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.71698	-0.59	3.64	2.53	0.30540	.	0.317438	0.17504	U	0.171898	T	0.64757	0.2627	M	0.61703	1.905	0.80722	D	1	B	0.21309	0.054	B	0.19391	0.025	T	0.60193	-0.7311	10	0.46703	T	0.11	.	8.5595	0.33503	0.8269:0.0:0.0:0.1731	.	1840	P24928	RPB1_HUMAN	P	1796;1840	ENSP00000314949:T1840P	ENSP00000314949:T1840P	T	+	1	0	SLC35G6	7357825	0.813000	0.29090	0.418000	0.26571	0.897000	0.52465	1.864000	0.39469	0.566000	0.29273	0.248000	0.18094	ACC	POLR2A	-	pfam_RNA_pol_II_repeat_euk	ENSG00000181222		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	501	0.79	4	A	NM_000937		7417101	7417101	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	missense	260	17.03	54	SNP	0.998	C
POLR2B	5431	genome.wustl.edu	37	4	57891078	57891078	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:57891078T>G	ENST00000381227.1	+	23	3404	c.2991T>G	c.(2989-2991)ggT>ggG	p.G997G	POLR2B_ENST00000441246.2_Silent_p.G990G|POLR2B_ENST00000314595.5_Silent_p.G997G|POLR2B_ENST00000431623.2_Silent_p.G922G			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	997					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTGAAATTGGTGATGCCACTC	0.343																																						dbGAP											0													165.0	164.0	165.0					4																	57891078		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2991T>G	4.37:g.57891078T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1A8|Q8IZ61	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.G997	ENST00000381227.1	37	c.2991	CCDS3511.1	4																																																																																			POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000047315		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	221	0.00	0	T	NM_000938		57891078	57891078	+1	no_errors	ENST00000314595	ensembl	human	known	69_37n	silent	141	19.89	35	SNP	1.000	G
POLR2G	5436	genome.wustl.edu	37	11	62530364	62530364	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62530364A>C	ENST00000301788.7	+	3	253	c.148A>C	c.(148-150)Acc>Ccc	p.T50P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	50					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						TGCTGTCACCACCATTGACAA	0.468																																						dbGAP											0													188.0	157.0	167.0					11																	62530364		2202	4299	6501	-	-	-	SO:0001583	missense	0			U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.148A>C	11.37:g.62530364A>C	ENSP00000301788:p.Thr50Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_RNA_pol_Rpb7_N,pfam_RNA_pol_III_Rbc25,superfamily_NA-bd_OB-fold-like,superfamily_RNA_pol_Rpb7_N,smart_RNA-binding_domain_S1	p.T50P	ENST00000301788.7	37	c.148	CCDS31585.1	11	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348411	0.82132	.	.	ENSG00000168002	ENST00000301788	.	.	.	5.92	5.92	0.95590	RNA polymerase Rpb7, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.69823	2.125	0.80722	D	1	P	0.44090	0.826	B	0.40982	0.345	T	0.66300	-0.5958	9	0.72032	D	0.01	-18.014	14.3125	0.66424	1.0:0.0:0.0:0.0	.	50	P62487	RPB7_HUMAN	P	50	.	ENSP00000301788:T50P	T	+	1	0	POLR2G	62286940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.124000	0.89588	2.260000	0.74910	0.528000	0.53228	ACC	POLR2G	-	pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N	ENSG00000168002		0.468	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2G	HGNC	protein_coding	OTTHUMT00000395344.1	27	0.00	0	A	NM_002696		62530364	62530364	+1	no_errors	ENST00000301788	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	1.000	C
POLR3A	11128	genome.wustl.edu	37	10	79745707	79745707	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:79745707T>G	ENST00000372371.3	-	23	3162	c.3025A>C	c.(3025-3027)Acc>Ccc	p.T1009P		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1009					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTACTTGGGTGGGGGTGATG	0.537																																						dbGAP											0													117.0	108.0	111.0					10																	79745707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3025A>C	10.37:g.79745707T>G	ENSP00000361446:p.Thr1009Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.T1009P	ENST00000372371.3	37	c.3025	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793126	0.90453	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68025	-0.3	5.6	5.6	0.85130	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.68952	2.095	0.80722	D	1	D	0.55800	0.973	P	0.57846	0.828	T	0.77560	-0.2542	9	.	.	.	-34.3376	15.7904	0.78357	0.0:0.0:0.0:1.0	.	1009	O14802	RPC1_HUMAN	P	1009	ENSP00000361446:T1009P	.	T	-	1	0	POLR3A	79415713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.815000	0.62634	2.110000	0.64415	0.455000	0.32223	ACC	POLR3A	-	pfam_RNA_pol_Rpb1_5	ENSG00000148606		0.537	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	112	0.00	0	T	NM_007055		79745707	79745707	-1	no_errors	ENST00000372371	ensembl	human	known	69_37n	missense	89	11.00	11	SNP	1.000	G
POMT1	10585	genome.wustl.edu	37	9	134386764	134386764	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:134386764T>G	ENST00000372228.3	+	10	1141	c.962T>G	c.(961-963)gTg>gGg	p.V321G	POMT1_ENST00000341012.7_Missense_Mutation_p.V245G|POMT1_ENST00000541219.1_Missense_Mutation_p.V77G|POMT1_ENST00000423007.1_Missense_Mutation_p.V299G|POMT1_ENST00000419118.2_Missense_Mutation_p.V147G|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000404875.2_Missense_Mutation_p.V182G|POMT1_ENST00000402686.3_Missense_Mutation_p.V299G|POMT1_ENST00000354713.4_Missense_Mutation_p.V269G	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	321	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CCACTGGAGGTGGCCTTTGGG	0.537																																						dbGAP											0													124.0	109.0	114.0					9																	134386764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.962T>G	9.37:g.134386764T>G	ENSP00000361302:p.Val321Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	p.V321G	ENST00000372228.3	37	c.962	CCDS6943.1	9	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165272	0.78339	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D;D;D;D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.13	5.13	0.70059	MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.961;0.994;0.987;0.987;0.996	D	0.97992	1.0355	10	0.87932	D	0	-26.2903	13.7764	0.63057	0.0:0.0:0.0:1.0	.	24;269;77;321;299	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	G	299;182;245;204;321;299;147;77;269	ENSP00000404119:V299G;ENSP00000384531:V182G;ENSP00000343034:V245G;ENSP00000395060:V204G;ENSP00000361302:V321G;ENSP00000385797:V299G;ENSP00000403032:V147G;ENSP00000440895:V77G;ENSP00000346748:V269G	ENSP00000343034:V245G	V	+	2	0	POMT1	133376585	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.336000	0.79245	1.935000	0.56089	0.460000	0.39030	GTG	POMT1	-	superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000130714		0.537	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	112	0.88	1	T	NM_007171		134386764	134386764	+1	no_errors	ENST00000372228	ensembl	human	known	69_37n	missense	110	17.29	23	SNP	1.000	G
PON3	5446	genome.wustl.edu	37	7	94989403	94989403	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:94989403A>C	ENST00000265627.5	-	9	957	c.947T>G	c.(946-948)gTg>gGg	p.V316G	PON3_ENST00000427422.1_Nonstop_Mutation_p.*246G|PON3_ENST00000451904.1_3'UTR|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	316					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CACGGTGCTCACCCTGGGCTT	0.443																																						dbGAP											0													113.0	109.0	110.0					7																	94989403		2203	4300	6503	-	-	-	SO:0001583	missense	0			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.947T>G	7.37:g.94989403A>C	ENSP00000265627:p.Val316Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.V316G	ENST00000265627.5	37	c.947	CCDS5639.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.21|16.21	3.057569|3.057569	0.55325|0.55325	.|.	.|.	ENSG00000105852|ENSG00000105852	ENST00000265627|ENST00000427422	T|.	0.44482|.	0.92|.	4.7|4.7	4.7|4.7	0.59300|0.59300	Six-bladed beta-propeller, TolB-like (1);|.	0.112811|.	0.64402|.	D|.	0.000011|.	T|.	0.64875|.	0.2638|.	M|M	0.83118|0.83118	2.625|2.625	0.09310|0.09310	N|N	1|1	D|.	0.71674|.	0.998|.	D|.	0.64321|.	0.924|.	T|.	0.59710|.	-0.7403|.	10|.	0.87932|.	D|.	0|.	-9.6568|-9.6568	14.3027|14.3027	0.66364|0.66364	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	316|.	Q15166|.	PON3_HUMAN|.	G|G	316|246	ENSP00000265627:V316G|.	ENSP00000265627:V316G|.	V|X	-|-	2|1	0|0	PON3|PON3	94827339|94827339	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.833000|0.833000	0.47200|0.47200	8.130000|8.130000	0.89598|0.89598	2.114000|2.114000	0.64651|0.64651	0.533000|0.533000	0.62120|0.62120	GTG|TGA	PON3	-	NULL	ENSG00000105852		0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	116	0.00	0	A	NM_000940		94989403	94989403	-1	no_errors	ENST00000265627	ensembl	human	known	69_37n	missense	100	18.70	23	SNP	1.000	C
POP4	10775	genome.wustl.edu	37	19	30106350	30106350	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:30106350A>C	ENST00000585603.1	+	0	3028				POP4_ENST00000221770.3_3'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)						mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ctaaatgtccacctttcagtg	0.463																																					Melanoma(89;1165 1449 14085 34436 43672)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.*63A>C	19.37:g.30106350A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKL7|Q6FHW9|Q9UQQ3	RNA	SNP	-	NULL	ENST00000585603.1	37	NULL	CCDS12416.1	19																																																																																			POP4	-	-	ENSG00000105171		0.463	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	19	0.00	0	A	NM_006627		30106350	30106350	+1	no_errors	ENST00000591824	ensembl	human	known	69_37n	rna	17	32.00	8	SNP	0.000	C
POPDC2	64091	genome.wustl.edu	37	3	119378821	119378821	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:119378821A>C	ENST00000264231.3	-	1	616	c.450T>G	c.(448-450)ggT>ggG	p.G150G	POPDC2_ENST00000468801.1_Silent_p.G150G|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Silent_p.G150G|POPDC2_ENST00000538678.1_Silent_p.G150G	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	150					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		TGGGTGTCTCACCCTCCACAG	0.542																																						dbGAP											0													137.0	134.0	135.0					3																	119378821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.450T>G	3.37:g.119378821A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UE7	Silent	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.G150	ENST00000264231.3	37	c.450	CCDS2992.1	3																																																																																			POPDC2	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000121577		0.542	POPDC2-002	KNOWN	basic|CCDS	protein_coding	POPDC2	HGNC	protein_coding	OTTHUMT00000355378.1	127	0.00	0	A	NM_022135		119378821	119378821	-1	no_errors	ENST00000341124	ensembl	human	known	69_37n	silent	129	15.69	24	SNP	0.789	C
PORCN	64840	genome.wustl.edu	37	X	48374291	48374291	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48374291A>C	ENST00000326194.6	+	11	1080	c.1037A>C	c.(1036-1038)cAc>cCc	p.H346P	PORCN_ENST00000537758.1_Missense_Mutation_p.H346P|PORCN_ENST00000355961.4_Missense_Mutation_p.H341P|PORCN_ENST00000367574.4_Missense_Mutation_p.H264P|PORCN_ENST00000355092.3_Missense_Mutation_p.H340P|PORCN_ENST00000359882.4_Missense_Mutation_p.H340P|PORCN_ENST00000361988.3_Missense_Mutation_p.H335P	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	346					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCAGTTTCCACCTGGCTGCG	0.612																																						dbGAP											0													63.0	50.0	54.0					X																	48374291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1037A>C	X.37:g.48374291A>C	ENSP00000322304:p.His346Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.H346P	ENST00000326194.6	37	c.1037	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652434	0.67472	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.03	5.03	0.67393	.	0.047612	0.85682	D	0.000000	T	0.80470	0.4629	M	0.73962	2.25	0.58432	D	0.999998	P;B;B;P;D	0.56521	0.95;0.04;0.034;0.95;0.976	P;B;B;P;P	0.54100	0.67;0.156;0.063;0.67;0.742	T	0.81057	-0.1105	10	0.44086	T	0.13	-5.7639	11.732	0.51744	1.0:0.0:0.0:0.0	.	340;346;264;335;341	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	P	340;346;264;341;335;346;340	ENSP00000352946:H340P;ENSP00000446401:H346P;ENSP00000356546:H264P;ENSP00000348233:H341P;ENSP00000354978:H335P;ENSP00000322304:H346P;ENSP00000347207:H340P	ENSP00000322304:H346P	H	+	2	0	PORCN	48259235	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.277000	0.72608	1.671000	0.50874	0.430000	0.28490	CAC	PORCN	-	pfam_MBOAT_fam	ENSG00000102312		0.612	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	31	0.00	0	A	NM_022825		48374291	48374291	+1	no_errors	ENST00000326194	ensembl	human	known	69_37n	missense	40	21.15	11	SNP	1.000	C
POTEH	23784	genome.wustl.edu	37	22	16267012	16267012	+	Silent	SNP	A	A	C	rs7290262		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:16267012A>C	ENST00000343518.6	-	9	1488	c.1437T>G	c.(1435-1437)ggT>ggG	p.G479G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	479										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATCCATCATCACCATTGTCAG	0.428																																						dbGAP											0													328.0	284.0	297.0					22																	16267012		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1437T>G	22.37:g.16267012A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G479	ENST00000343518.6	37	c.1437	CCDS46658.1	22																																																																																			POTEH	-	NULL	ENSG00000198062		0.428	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	1643	0.00	0	A	NM_001136213		16267012	16267012	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	silent	1220	12.86	181	SNP	0.000	C
POU2F1	5451	genome.wustl.edu	37	1	167381312	167381312	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:167381312T>C	ENST00000541643.3	+	15	1765	c.1603T>C	c.(1603-1605)Tcc>Ccc	p.S535P	POU2F1_ENST00000367866.2_Missense_Mutation_p.S558P|POU2F1_ENST00000367862.5_Missense_Mutation_p.S547P|POU2F1_ENST00000429375.2_Missense_Mutation_p.S495P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.S535P			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	535					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCTCCACCTCCGAGGCATC	0.602																																						dbGAP											0													95.0	76.0	83.0					1																	167381312		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1603T>C	1.37:g.167381312T>C	ENSP00000441285:p.Ser535Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.S558P	ENST00000541643.3	37	c.1672		1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571324	0.45798	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86497	-2.13;-2.1;0.52;0.52;0.52;0.52;0.52	4.97	3.81	0.43845	.	0.669247	0.15676	N	0.250136	T	0.69450	0.3112	N	0.19112	0.55	0.38662	D	0.952090	B;B;B;B;B	0.25105	0.072;0.118;0.118;0.118;0.072	B;B;B;B;B	0.31245	0.059;0.126;0.126;0.079;0.059	T	0.65788	-0.6083	9	0.72032	D	0.01	.	11.288	0.49232	0.1367:0.0:0.0:0.8633	.	495;535;547;533;535	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	P	558;495;533;535;535;547;443	ENSP00000356840:S558P;ENSP00000401217:S495P;ENSP00000356839:S533P;ENSP00000414660:S535P;ENSP00000441285:S535P;ENSP00000356836:S547P;ENSP00000415993:S443P	ENSP00000356836:S547P	S	+	1	0	POU2F1	165647936	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	2.118000	0.41949	0.978000	0.38470	0.528000	0.53228	TCC	POU2F1	-	NULL	ENSG00000143190		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding		99	0.00	0	T	NM_002697		167381312	167381312	+1	no_errors	ENST00000367866	ensembl	human	known	69_37n	missense	145	21.08	39	SNP	1.000	C
POU6F2	11281	genome.wustl.edu	37	7	39504101	39504101	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:39504101A>C	ENST00000403058.1	+	11	2046	c.1892A>C	c.(1891-1893)cAc>cCc	p.H631P	POU6F2_ENST00000518318.2_Missense_Mutation_p.H595P|POU6F2_ENST00000559001.1_Missense_Mutation_p.H576P	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	631					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AAGAACACACACCCTTCTGGG	0.502																																						dbGAP											0													66.0	57.0	60.0					7																	39504101		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1892A>C	7.37:g.39504101A>C	ENSP00000384004:p.His631Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.H631P	ENST00000403058.1	37	c.1892	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382146	0.42207	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.95412	-3.7;-3.7	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.087645	0.85682	D	0.000000	D	0.97219	0.9091	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97298	0.9929	10	0.48119	T	0.1	.	15.3258	0.74160	1.0:0.0:0.0:0.0	.	631	P78424	PO6F2_HUMAN	P	631;595	ENSP00000384004:H631P;ENSP00000430514:H595P	ENSP00000384004:H631P	H	+	2	0	POU6F2	39470626	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.075000	0.62263	0.533000	0.62120	CAC	POU6F2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000106536		0.502	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	111	0.00	0	A	NM_007252		39504101	39504101	+1	no_errors	ENST00000403058	ensembl	human	known	69_37n	missense	95	17.39	20	SNP	1.000	C
PPARD	5467	genome.wustl.edu	37	6	35392415	35392415	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:35392415A>C	ENST00000311565.4	+	8	1286	c.937A>C	c.(937-939)Acc>Ccc	p.T313P	PPARD_ENST00000448077.2_Missense_Mutation_p.T274P|PPARD_ENST00000337400.2_Missense_Mutation_p.T313P|PPARD_ENST00000540939.1_Missense_Mutation_p.T210P|PPARD_ENST00000360694.3_Missense_Mutation_p.T313P|PPARD_ENST00000444397.1_Missense_Mutation_p.T313P|PPARD_ENST00000418635.2_Missense_Mutation_p.T215P	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	313	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGGCTTTGTCACCCGTGAGTT	0.537																																						dbGAP											0													66.0	58.0	61.0					6																	35392415		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.937A>C	6.37:g.35392415A>C	ENSP00000310928:p.Thr313Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A	p.T313P	ENST00000311565.4	37	c.937	CCDS4803.1	6	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603560	0.87157	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	M	0.75150	2.29	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.998;0.997	D;D;D;D	0.74023	0.978;0.982;0.982;0.955	D	0.97808	1.0249	10	0.52906	T	0.07	.	15.9998	0.80285	1.0:0.0:0.0:0.0	.	215;274;313;313	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	P	274;313;215;313;313;313;210	ENSP00000414372:T274P;ENSP00000353916:T313P;ENSP00000413314:T215P;ENSP00000410837:T313P;ENSP00000310928:T313P;ENSP00000337063:T313P;ENSP00000443759:T210P	ENSP00000310928:T313P	T	+	1	0	PPARD	35500393	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.339000	0.96797	2.189000	0.69895	0.533000	0.62120	ACC	PPARD	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt	ENSG00000112033		0.537	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	32	0.00	0	A	NM_006238		35392415	35392415	+1	no_errors	ENST00000311565	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	C
PPARGC1A	10891	genome.wustl.edu	37	4	23833215	23833215	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:23833215T>G	ENST00000264867.2	-	3	513	c.394A>C	c.(394-396)Acc>Ccc	p.T132P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	132					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGTGGAGGGGTGCCGTCAGGC	0.552																																					Esophageal Squamous(29;694 744 13796 34866 44181)	dbGAP											0													256.0	207.0	224.0					4																	23833215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.394A>C	4.37:g.23833215T>G	ENSP00000264867:p.Thr132Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T132P	ENST00000264867.2	37	c.394	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808626	0.31961	.	.	ENSG00000109819	ENST00000264867	T	0.22743	1.94	6.03	6.03	0.97812	.	0.047676	0.85682	D	0.000000	T	0.27967	0.0689	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.01528	-1.1332	10	0.32370	T	0.25	-6.6389	12.3299	0.55033	0.0:0.067:0.0:0.933	.	132	Q9UBK2	PRGC1_HUMAN	P	132	ENSP00000264867:T132P	ENSP00000264867:T132P	T	-	1	0	PPARGC1A	23442313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.359000	0.44142	2.308000	0.77769	0.533000	0.62120	ACC	PPARGC1A	-	NULL	ENSG00000109819		0.552	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	349	0.85	3	T	NM_013261		23833215	23833215	-1	no_errors	ENST00000264867	ensembl	human	known	69_37n	missense	309	17.24	65	SNP	1.000	G
PPFIBP1	8496	genome.wustl.edu	37	12	27830023	27830023	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:27830023A>C	ENST00000318304.8	+	18	1916				PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.T537P|PPFIBP1_ENST00000542629.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGTGCACCCACCCTAGGTAT	0.488																																						dbGAP											0													322.0	265.0	284.0					12																	27830023		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1633+491A>C	12.37:g.27830023A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T537P	ENST00000318304.8	37	c.1609	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441370	0.43326	.	.	ENSG00000110841	ENST00000228425	T	0.76839	-1.05	5.44	5.44	0.79542	.	.	.	.	.	T	0.76593	0.4009	.	.	.	0.21861	N	0.999504	D	0.59357	0.985	P	0.51229	0.663	T	0.66881	-0.5811	8	0.29301	T	0.29	.	9.7714	0.40591	0.9232:0.0:0.0768:0.0	.	537	Q86W92-2	.	P	537	ENSP00000228425:T537P	ENSP00000228425:T537P	T	+	1	0	PPFIBP1	27721290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.986000	0.63851	2.285000	0.76669	0.533000	0.62120	ACC	PPFIBP1	-	NULL	ENSG00000110841		0.488	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	94	0.00	0	A	NM_003622		27830023	27830023	+1	no_errors	ENST00000228425	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	C
PPFIA2	8499	genome.wustl.edu	37	12	81762580	81762580	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:81762580A>C	ENST00000549396.1	-	13	1566	c.1406T>G	c.(1405-1407)gTt>gGt	p.V469G	PPFIA2_ENST00000550359.2_Missense_Mutation_p.V316G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.V469G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.V395G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V36G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.V451G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V451G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V469G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.V370G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V469G|PPFIA2_ENST00000541017.1_5'UTR	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	469	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAGTCTATCAACCGTATCCGA	0.348																																						dbGAP											0													249.0	237.0	241.0					12																	81762580		1841	4100	5941	-	-	-	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1406T>G	12.37:g.81762580A>C	ENSP00000450337:p.Val469Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V469G	ENST00000549396.1	37	c.1406	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052677	0.55218	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.79454	1.08;1.08;0.78;1.08;-1.27;1.08;1.08;1.08;1.08	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.89904	3.07	0.80722	D	1	P	0.48911	0.917	B	0.41299	0.353	D	0.86515	0.1812	10	0.59425	D	0.04	-18.3994	15.6887	0.77434	1.0:0.0:0.0:0.0	.	469	O75334	LIPA2_HUMAN	G	469;451;36;395;480;451;469;370;469;50;36	ENSP00000450337:V469G;ENSP00000450298:V451G;ENSP00000438337:V36G;ENSP00000385093:V395G;ENSP00000327416:V451G;ENSP00000449338:V469G;ENSP00000388373:V370G;ENSP00000447868:V469G;ENSP00000448941:V50G	ENSP00000327416:V451G	V	-	2	0	PPFIA2	80286711	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	9.338000	0.96553	2.170000	0.68504	0.460000	0.39030	GTT	PPFIA2	-	NULL	ENSG00000139220		0.348	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	234	0.85	2	A			81762580	81762580	-1	no_errors	ENST00000549396	ensembl	human	known	69_37n	missense	163	19.70	40	SNP	1.000	C
PPFIBP2	8495	genome.wustl.edu	37	11	7660996	7660996	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:7660996A>C	ENST00000299492.4	+	15	1658	c.1270A>C	c.(1270-1272)Act>Cct	p.T424P	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.T281P|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.T266P|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.T312P	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	424					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAAATATCCCACTTTACCTGG	0.547																																						dbGAP											0													149.0	154.0	152.0					11																	7660996		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1270A>C	11.37:g.7660996A>C	ENSP00000299492:p.Thr424Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T424P	ENST00000299492.4	37	c.1270	CCDS31419.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.934834|3.934834	0.73442|0.73442	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000534409|ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081	.|T;T;T;T	.|0.39056	.|1.54;1.12;1.54;1.1	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.134405	.|0.51477	.|D	.|0.000088	T|T	0.58366|0.58366	0.2117|0.2117	M|M	0.61703|0.61703	1.905|1.905	0.47441|0.47441	D|D	0.999429|0.999429	.|D;D;D;D;D;D	.|0.76494	.|0.992;0.99;0.999;0.99;0.994;0.995	.|P;P;D;P;P;D	.|0.71870	.|0.851;0.786;0.975;0.786;0.883;0.941	T|T	0.55829|0.55829	-0.8079|-0.8079	5|10	.|0.30854	.|T	.|0.27	-2.9424|-2.9424	12.3251|12.3251	0.55007|0.55007	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|312;312;347;266;281;424	.|E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.|.;.;.;.;.;LIPB2_HUMAN	P|P	103|424;266;266;347;312;281;68	.|ENSP00000299492:T424P;ENSP00000436498:T266P;ENSP00000435469:T312P;ENSP00000437321:T281P	.|ENSP00000299492:T424P	H|T	+|+	2|1	0|0	PPFIBP2|PPFIBP2	7617572|7617572	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.762000|0.762000	0.43233|0.43233	4.281000|4.281000	0.58965|0.58965	2.160000|2.160000	0.67779|0.67779	0.455000|0.455000	0.32223|0.32223	CAC|ACT	PPFIBP2	-	NULL	ENSG00000166387		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	218	0.45	1	A	NM_003621		7660996	7660996	+1	no_errors	ENST00000299492	ensembl	human	known	69_37n	missense	331	11.20	42	SNP	0.994	C
PPIB	5479	genome.wustl.edu	37	15	64454310	64454310	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:64454310A>C	ENST00000300026.3	-	2	397	c.179T>G	c.(178-180)gTg>gGg	p.V60G	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	60	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.		V -> L (in dbSNP:rs11558595).		bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	ACCAAAGATCACCCGGCCTAC	0.473																																					GBM(105;399 1481 32889 33051 36637)	dbGAP											0													233.0	244.0	241.0					15																	64454310		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.179T>G	15.37:g.64454310A>C	ENSP00000300026:p.Val60Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V60G	ENST00000300026.3	37	c.179	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	A	18.57	3.651611	0.67472	.	.	ENSG00000166794	ENST00000300026	T	0.40756	1.02	5.57	5.57	0.84162	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.172560	0.50627	D	0.000110	T	0.68412	0.2998	M	0.84948	2.725	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.74578	-0.3619	10	0.87932	D	0	.	15.3959	0.74794	1.0:0.0:0.0:0.0	.	60	P23284	PPIB_HUMAN	G	60	ENSP00000300026:V60G	ENSP00000300026:V60G	V	-	2	0	PPIB	62241363	0.956000	0.32656	1.000000	0.80357	0.164000	0.22412	8.749000	0.91619	2.121000	0.65114	0.374000	0.22700	GTG	PPIB	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000166794		0.473	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	216	0.46	1	A			64454310	64454310	-1	no_errors	ENST00000300026	ensembl	human	known	69_37n	missense	131	20.96	35	SNP	1.000	C
PPIB	5479	genome.wustl.edu	37	15	64454352	64454352	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:64454352A>C	ENST00000300026.3	-	2	355	c.137T>G	c.(136-138)gTg>gGg	p.V46G	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	46					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GTCAAAATACACCTGAGGAAA	0.448																																					GBM(105;399 1481 32889 33051 36637)	dbGAP											0													140.0	148.0	145.0					15																	64454352		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.136-1T>G	15.37:g.64454352A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V46G	ENST00000300026.3	37	c.137	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617475	0.87359	.	.	ENSG00000166794	ENST00000300026	T	0.40756	1.02	5.57	5.57	0.84162	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78244	-0.2279	10	0.87932	D	0	.	15.3959	0.74794	1.0:0.0:0.0:0.0	.	46	P23284	PPIB_HUMAN	G	46	ENSP00000300026:V46G	ENSP00000300026:V46G	V	-	2	0	PPIB	62241405	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.715000	0.91416	2.121000	0.65114	0.374000	0.22700	GTG	PPIB	-	superfamily_Cyclophilin-like_PPIase_dom	ENSG00000166794		0.448	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	196	0.00	0	A		Missense_Mutation	64454352	64454352	-1	no_errors	ENST00000300026	ensembl	human	known	69_37n	missense	115	14.81	20	SNP	1.000	C
PPL	5493	genome.wustl.edu	37	16	4934979	4934979	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:4934979A>C	ENST00000345988.2	-	22	3766	c.3677T>G	c.(3676-3678)gTg>gGg	p.V1226G	PPL_ENST00000590782.2_Missense_Mutation_p.V1224G	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1226					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTTGACTTCCACCTGGGGGCC	0.592																																						dbGAP											0													77.0	69.0	72.0					16																	4934979		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3677T>G	16.37:g.4934979A>C	ENSP00000340510:p.Val1226Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.V1226G	ENST00000345988.2	37	c.3677	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968627	0.53614	.	.	ENSG00000118898	ENST00000345988	T	0.60299	0.2	5.63	4.55	0.56014	.	0.166737	0.39615	N	0.001305	T	0.65439	0.2691	M	0.62723	1.935	0.58432	D	0.999999	D	0.56746	0.977	P	0.54965	0.765	T	0.69548	-0.5116	10	0.87932	D	0	.	11.0104	0.47659	0.9277:0.0:0.0723:0.0	.	1226	O60437	PEPL_HUMAN	G	1226	ENSP00000340510:V1226G	ENSP00000340510:V1226G	V	-	2	0	PPL	4874980	1.000000	0.71417	0.988000	0.46212	0.625000	0.37756	7.493000	0.81493	2.157000	0.67596	0.533000	0.62120	GTG	PPL	-	NULL	ENSG00000118898		0.592	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	142	0.00	0	A	NM_002705		4934979	4934979	-1	no_errors	ENST00000345988	ensembl	human	known	69_37n	missense	91	16.81	19	SNP	1.000	C
PPM1J	333926	genome.wustl.edu	37	1	113253404	113253404	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:113253404T>G	ENST00000309276.6	-	8	1355	c.1180A>C	c.(1180-1182)Acc>Ccc	p.T394P	RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.H75P|PPM1J_ENST00000464951.1_Missense_Mutation_p.T188P|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000359994.4_Missense_Mutation_p.T188P	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	394	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGGCAGGGTGGAACTGCAG	0.572																																						dbGAP											0													116.0	111.0	113.0					1																	113253404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1180A>C	1.37:g.113253404T>G	ENSP00000308926:p.Thr394Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.T394P	ENST00000309276.6	37	c.1180	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771312	0.49680	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.09538	2.97;2.97	5.34	4.19	0.49359	Protein phosphatase 2C-like (5);	0.257859	0.42294	D	0.000725	T	0.02727	0.0082	N	0.04746	-0.17	0.29266	N	0.870996	P;P	0.38020	0.523;0.615	B;B	0.42798	0.398;0.388	T	0.29701	-1.0003	10	0.59425	D	0.04	-5.8793	11.238	0.48953	0.1376:0.0:0.0:0.8624	.	394;188	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	P	394;188	ENSP00000308926:T394P;ENSP00000353088:T188P	ENSP00000308926:T394P	T	-	1	0	PPM1J	113054927	1.000000	0.71417	0.985000	0.45067	0.851000	0.48451	6.217000	0.72218	0.847000	0.35167	0.397000	0.26171	ACC	PPM1J	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000155367		0.572	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	102	0.97	1	T	NM_005167		113253404	113253404	-1	no_errors	ENST00000309276	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	1.000	G
PPP1R3C	5507	genome.wustl.edu	37	10	93389995	93389995	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:93389995T>G	ENST00000238994.5	-	2	727	c.643A>C	c.(643-645)Acc>Ccc	p.T215P		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AATGAGAAGGTATCACTATCT	0.403																																						dbGAP											0													104.0	98.0	100.0					10																	93389995		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.643A>C	10.37:g.93389995T>G	ENSP00000238994:p.Thr215Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.T215P	ENST00000238994.5	37	c.643	CCDS7416.1	10	.	.	.	.	.	.	.	.	.	.	T	21.3	4.136110	0.77662	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.64618	-0.11	5.73	5.73	0.89815	Putative phosphatase regulatory subunit (2);	0.052892	0.85682	D	0.000000	D	0.82793	0.5114	M	0.91510	3.215	0.80722	D	1	D	0.64830	0.994	D	0.76575	0.988	D	0.84343	0.0528	10	0.35671	T	0.21	-20.9396	16.0153	0.80434	0.0:0.0:0.0:1.0	.	215	Q9UQK1	PPR3C_HUMAN	P	215;195;97	ENSP00000238994:T215P	ENSP00000238994:T215P	T	-	1	0	PPP1R3C	93379975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.982000	0.88131	2.180000	0.69256	0.533000	0.62120	ACC	PPP1R3C	-	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	ENSG00000119938		0.403	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	HGNC	protein_coding	OTTHUMT00000049372.1	243	0.41	1	T	NM_005398		93389995	93389995	-1	no_errors	ENST00000238994	ensembl	human	known	69_37n	missense	165	12.23	23	SNP	1.000	G
PPP1R9A	55607	genome.wustl.edu	37	7	94750034	94750034	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:94750034T>G	ENST00000433881.1	+	4	2071	c.1539T>G	c.(1537-1539)ggT>ggG	p.G513G	PPP1R9A_ENST00000340694.4_Silent_p.G513G|PPP1R9A_ENST00000424654.1_Silent_p.G513G|PPP1R9A_ENST00000289495.5_Silent_p.G513G|PPP1R9A_ENST00000433360.1_Silent_p.G513G|PPP1R9A_ENST00000456331.2_Silent_p.G513G			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	513	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATGAGGATGGTCTTGGTATAA	0.408										HNSCC(28;0.073)																												dbGAP											0													124.0	129.0	127.0					7																	94750034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1539T>G	7.37:g.94750034T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.G513	ENST00000433881.1	37	c.1539	CCDS34683.1	7																																																																																			PPP1R9A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000158528		0.408	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	259	0.00	0	T	NM_001166160		94750034	94750034	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	silent	222	12.25	31	SNP	0.992	G
PPP2R3A	5523	genome.wustl.edu	37	3	135721942	135721942	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:135721942T>G	ENST00000264977.3	+	2	2219	c.1602T>G	c.(1600-1602)ggT>ggG	p.G534G	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	534					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGCGAAGGGTAAAAACTCTA	0.383																																						dbGAP											0													50.0	54.0	53.0					3																	135721942		2199	4298	6497	-	-	-	SO:0001819	synonymous_variant	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1602T>G	3.37:g.135721942T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	pfscan_EF_HAND_2	p.G534	ENST00000264977.3	37	c.1602	CCDS3087.1	3																																																																																			PPP2R3A	-	NULL	ENSG00000073711		0.383	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	262	0.00	0	T	NM_002718		135721942	135721942	+1	no_errors	ENST00000264977	ensembl	human	known	69_37n	silent	177	16.04	34	SNP	0.839	G
PPRC1	23082	genome.wustl.edu	37	10	103906456	103906456	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:103906456A>C	ENST00000278070.2	+	9	3746	c.3707A>C	c.(3706-3708)cAc>cCc	p.H1236P	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.H203P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACCCCTCCCCACCAGTTATGG	0.572																																						dbGAP											0													74.0	75.0	75.0					10																	103906456		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3707A>C	10.37:g.103906456A>C	ENSP00000278070:p.His1236Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H1236P	ENST00000278070.2	37	c.3707	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271405	0.59649	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.72725	-0.28;-0.68	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79792	-0.1654	10	0.62326	D	0.03	.	15.5376	0.76016	1.0:0.0:0.0:0.0	.	1116;1236	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	P	1236;203	ENSP00000278070:H1236P;ENSP00000359029:H203P	ENSP00000278070:H1236P	H	+	2	0	PPRC1	103896446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.678000	0.91211	2.072000	0.62099	0.379000	0.24179	CAC	PPRC1	-	NULL	ENSG00000148840		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	164	0.60	1	A	NM_015062		103906456	103906456	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	missense	293	13.24	45	SNP	1.000	C
PRAMEF1	65121	genome.wustl.edu	37	1	12853537	12853537	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12853537T>G	ENST00000332296.7	+	2	264	c.161T>G	c.(160-162)gTg>gGg	p.V54G	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	54					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTGACGGTGATGGTTCAG	0.552																																						dbGAP											0													141.0	147.0	145.0					1																	12853537		2203	4297	6500	-	-	-	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.161T>G	1.37:g.12853537T>G	ENSP00000332134:p.Val54Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQP2	Missense_Mutation	SNP	NULL	p.V54G	ENST00000332296.7	37	c.161	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	7.877	0.729295	0.15507	.	.	ENSG00000116721	ENST00000332296	T	0.04317	3.65	1.82	0.871	0.19107	.	0.580895	0.16592	N	0.207730	T	0.04407	0.0121	L	0.36672	1.1	0.09310	N	1	P	0.35684	0.515	B	0.38842	0.283	T	0.35251	-0.9796	10	0.54805	T	0.06	.	4.0855	0.09945	0.0:0.775:0.0:0.225	.	54	O95521	PRAM1_HUMAN	G	54	ENSP00000332134:V54G	ENSP00000332134:V54G	V	+	2	0	PRAMEF1	12776124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.468000	0.06656	0.328000	0.23435	-0.435000	0.05868	GTG	PRAMEF1	-	NULL	ENSG00000116721		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	378	0.26	1	T	NM_023013		12853537	12853537	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	missense	236	12.27	33	SNP	0.001	G
PRAMEF1	65121	genome.wustl.edu	37	1	12853560	12853560	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12853560A>C	ENST00000332296.7	+	2	287	c.184A>C	c.(184-186)Acc>Ccc	p.T62P	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	62					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCCCTTCACCTGCCTCCC	0.552																																						dbGAP											0													122.0	128.0	126.0					1																	12853560		2203	4297	6500	-	-	-	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.184A>C	1.37:g.12853560A>C	ENSP00000332134:p.Thr62Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQP2	Missense_Mutation	SNP	NULL	p.T62P	ENST00000332296.7	37	c.184	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.543164	0.00934	.	.	ENSG00000116721	ENST00000332296	T	0.05786	3.39	1.82	-3.64	0.04515	.	1.313160	0.04835	N	0.439384	T	0.01353	0.0044	N	0.00738	-1.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	10	0.02654	T	1	.	0.6678	0.00853	0.1811:0.3221:0.1962:0.3006	.	62	O95521	PRAM1_HUMAN	P	62	ENSP00000332134:T62P	ENSP00000332134:T62P	T	+	1	0	PRAMEF1	12776147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.318000	0.08050	-2.401000	0.00578	-2.029000	0.00425	ACC	PRAMEF1	-	NULL	ENSG00000116721		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	376	0.79	3	A	NM_023013		12853560	12853560	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	missense	222	17.28	47	SNP	0.000	C
PRAMEF1	65121	genome.wustl.edu	37	1	12854222	12854222	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12854222T>G	ENST00000332296.7	+	3	549	c.446T>G	c.(445-447)gTg>gGg	p.V149G	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	149					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTAAAGGTGTTCATAGAC	0.537																																						dbGAP											0													66.0	75.0	72.0					1																	12854222		2130	4275	6405	-	-	-	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.446T>G	1.37:g.12854222T>G	ENSP00000332134:p.Val149Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQP2	Missense_Mutation	SNP	NULL	p.V149G	ENST00000332296.7	37	c.446	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.764248	0.31228	.	.	ENSG00000116721	ENST00000332296	T	0.20598	2.06	1.7	1.7	0.24286	.	0.271755	0.28011	N	0.016950	T	0.44644	0.1303	M	0.89414	3.03	0.09310	N	0.999996	D	0.76494	0.999	D	0.72982	0.979	T	0.16630	-1.0396	10	0.87932	D	0	.	5.5234	0.16945	0.0:0.0:0.0:1.0	.	149	O95521	PRAM1_HUMAN	G	149	ENSP00000332134:V149G	ENSP00000332134:V149G	V	+	2	0	PRAMEF1	12776809	0.002000	0.14202	0.003000	0.11579	0.009000	0.06853	1.248000	0.32827	1.044000	0.40200	0.438000	0.28831	GTG	PRAMEF1	-	NULL	ENSG00000116721		0.537	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	586	0.34	2	T	NM_023013		12854222	12854222	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	missense	472	11.71	63	SNP	0.003	G
PRAMEF2	65122	genome.wustl.edu	37	1	12919706	12919706	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12919706T>G	ENST00000240189.2	+	3	533	c.446T>G	c.(445-447)gTg>gGg	p.V149G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	149					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTAAAGGTGTTCATAGAC	0.542																																						dbGAP											0													112.0	123.0	119.0					1																	12919706		2202	4292	6494	-	-	-	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.446T>G	1.37:g.12919706T>G	ENSP00000240189:p.Val149Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V149G	ENST00000240189.2	37	c.446	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.520903	0.27211	.	.	ENSG00000120952	ENST00000240189	T	0.20598	2.06	0.842	0.842	0.18927	.	0.271755	0.28011	N	0.016950	T	0.43456	0.1248	M	0.89353	3.025	0.20926	N	0.999828	D	0.89917	1.0	D	0.79108	0.992	T	0.16512	-1.0400	10	0.87932	D	0	.	3.9732	0.09462	0.0:0.0:0.0:1.0	.	149	O60811	PRAM2_HUMAN	G	149	ENSP00000240189:V149G	ENSP00000240189:V149G	V	+	2	0	PRAMEF2	12842293	0.002000	0.14202	0.101000	0.21167	0.082000	0.17680	0.971000	0.29396	0.633000	0.30452	0.163000	0.16589	GTG	PRAMEF2	-	NULL	ENSG00000120952		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	481	0.21	1	T	NM_023014		12919706	12919706	+1	no_errors	ENST00000240189	ensembl	human	known	69_37n	missense	398	10.86	49	SNP	0.131	G
PRAMEF6	440561	genome.wustl.edu	37	1	13111522	13111522	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:13111522T>G	ENST00000376182.1	-	3	592	c.493A>C	c.(493-495)Acc>Ccc	p.T165P	PRAMEF6_ENST00000414205.2_Missense_Mutation_p.T165P|PRAMEF6_ENST00000376192.5_Missense_Mutation_p.T165P	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	165					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGGCAGGTGAGGTATTCA	0.468																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376182.1:c.493A>C	1.37:g.13111522T>G	ENSP00000365353:p.Thr165Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUJ9	Missense_Mutation	SNP	NULL	p.T165P	ENST00000376182.1	37	c.493		1	.	.	.	.	.	.	.	.	.	.	.	10.25	1.297628	0.23650	.	.	ENSG00000232423	ENST00000376192;ENST00000376182;ENST00000414205	T;T;T	0.05199	3.48;3.48;3.48	1.21	-0.339	0.12647	.	0.523213	0.19444	N	0.114110	T	0.15392	0.0371	M	0.69358	2.11	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.08411	-1.0723	10	0.66056	D	0.02	.	2.9505	0.05860	0.4023:0.0:0.0:0.5977	.	165;165	A6NMV5;Q5TYX0	PRA23_HUMAN;PRAM5_HUMAN	P	165	ENSP00000365363:T165P;ENSP00000365353:T165P;ENSP00000393084:T165P	ENSP00000365353:T165P	T	-	1	0	PRAMEF6	13034109	0.019000	0.18553	0.006000	0.13384	0.091000	0.18340	0.091000	0.15046	-0.097000	0.12307	0.155000	0.16302	ACC	PRAMEF6	-	NULL	ENSG00000232423		0.468	PRAMEF6-201	KNOWN	basic|appris_candidate_longest	protein_coding	PRAMEF6	HGNC	protein_coding		115	0.00	0	T	NM_001010889		13111522	13111522	-1	no_errors	ENST00000376182	ensembl	human	known	69_37n	missense	78	22.86	24	SNP	0.007	G
PRAMEF18	391003	genome.wustl.edu	37	1	13474849	13474849	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:13474849G>A	ENST00000376126.2	-	3	1279	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	427					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGCTCCGAAATGACACG	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1280C>T	1.37:g.13474849G>A	ENSP00000365294:p.Ser427Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S427L	ENST00000376126.2	37	c.1280	CCDS41258.1	1	.	.	.	.	.	.	.	.	.	.	G	0	-2.637953	0.00114	.	.	ENSG00000204491	ENST00000376126	T	0.10382	2.88	1.39	-2.77	0.05877	.	2.037010	0.02097	N	0.053563	T	0.04452	0.0122	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.39603	-0.9606	10	0.27082	T	0.32	.	0.3219	0.00304	0.3502:0.1381:0.2478:0.2638	.	427	Q5VWM3	PRA18_HUMAN	L	427	ENSP00000365294:S427L	ENSP00000365294:S427L	S	-	2	0	PRAMEF18	13347436	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.205000	0.00274	-5.806000	0.00009	-2.979000	0.00080	TCG	PRAMEF18	-	NULL	ENSG00000204491		0.567	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PRAMEF18	HGNC	protein_coding	OTTHUMT00000008177.2	48	0.00	0	G	NM_001099850		13474849	13474849	-1	no_errors	ENST00000376126	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	0.000	A
PRB2	653247	genome.wustl.edu	37	12	11546154	11546154	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11546154T>G	ENST00000389362.4	-	3	893	c.858A>C	c.(856-858)ccA>ccC	p.P286P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	286	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTGGGGGTGGTCCTTGTG	0.617																																						dbGAP											0													133.0	169.0	157.0					12																	11546154		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.858A>C	12.37:g.11546154T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00599|P02811|P04281	Silent	SNP	NULL	p.P286	ENST00000389362.4	37	c.858	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	426	0.93	4	T	NM_006248		11546154	11546154	-1	no_errors	ENST00000389362	ensembl	human	known	69_37n	silent	333	16.50	66	SNP	0.001	G
PRB2	653247	genome.wustl.edu	37	12	11546340	11546340	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11546340T>G	ENST00000389362.4	-	3	707	c.672A>C	c.(670-672)ccA>ccC	p.P224P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	224	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTGGGGGTGGTCCTTGTG	0.617																																						dbGAP											0													176.0	193.0	187.0					12																	11546340		2202	4288	6490	-	-	-	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.672A>C	12.37:g.11546340T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00599|P02811|P04281	Silent	SNP	NULL	p.P224	ENST00000389362.4	37	c.672	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	611	0.97	6	T	NM_006248		11546340	11546340	-1	no_errors	ENST00000389362	ensembl	human	known	69_37n	silent	407	15.98	78	SNP	0.008	G
PRB3	5544	genome.wustl.edu	37	12	11420309	11420309	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11420309T>G	ENST00000279573.7	-	3	1009	c.874A>C	c.(874-876)Acc>Ccc	p.T292P	PRB3_ENST00000381842.3_Silent_p.P249P|PRB3_ENST00000538488.1_Silent_p.P249P|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	92	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTGTGGGGGTGGTCCTTGTG	0.607																																						dbGAP											0													167.0	191.0	183.0					12																	11420309		2191	4293	6484	-	-	-	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.874A>C	12.37:g.11420309T>G	ENSP00000279573:p.Thr292Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.T250P	ENST00000279573.7	37	c.748		12																																																																																			PRB3	-	NULL	ENSG00000197870		0.607	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	735	0.94	7	T	NM_006249		11420309	11420309	-1	pseudogene	ENST00000279573	ensembl	human	known	69_37n	missense	609	10.31	70	SNP	0.560	G
PRB4	5545	genome.wustl.edu	37	12	11461449	11461449	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11461449T>G	ENST00000535904.1	-	3	501	c.468A>C	c.(466-468)ccA>ccC	p.P156P	PRB4_ENST00000279575.1_Silent_p.P156P|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	177	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGATGAGGTGGGGGACCTT	0.607										HNSCC(22;0.051)																												dbGAP											0													196.0	214.0	208.0					12																	11461449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.468A>C	12.37:g.11461449T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	NULL	p.P156	ENST00000535904.1	37	c.468	CCDS8641.1	12																																																																																			PRB4	-	NULL	ENSG00000230657		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	862	0.58	5	T	NM_002723		11461449	11461449	-1	no_errors	ENST00000279575	ensembl	human	known	69_37n	silent	799	10.36	93	SNP	0.001	G
PRB4	5545	genome.wustl.edu	37	12	11461638	11461638	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11461638T>G	ENST00000535904.1	-	3	312	c.279A>C	c.(277-279)ccA>ccC	p.P93P	PRB4_ENST00000279575.1_Silent_p.P93P|PRB4_ENST00000445719.2_Silent_p.P93P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	114	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGATGAGGTGGGGGACCTT	0.607										HNSCC(22;0.051)																												dbGAP											0													311.0	332.0	325.0					12																	11461638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.279A>C	12.37:g.11461638T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	NULL	p.P93	ENST00000535904.1	37	c.279	CCDS8641.1	12																																																																																			PRB4	-	NULL	ENSG00000230657		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	1142	0.69	8	T	NM_002723		11461638	11461638	-1	no_errors	ENST00000279575	ensembl	human	known	69_37n	silent	1047	10.67	126	SNP	0.000	G
PRB4	5545	genome.wustl.edu	37	12	11461737	11461737	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11461737T>G	ENST00000535904.1	-	3	213	c.180A>C	c.(178-180)ccA>ccC	p.P60P	PRB4_ENST00000279575.1_Silent_p.P60P|PRB4_ENST00000445719.2_Silent_p.P60P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	81	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTTGTGGGGGTGGTCCTTGTG	0.627										HNSCC(22;0.051)																												dbGAP											0													210.0	228.0	222.0					12																	11461737		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.180A>C	12.37:g.11461737T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	NULL	p.P60	ENST00000535904.1	37	c.180	CCDS8641.1	12																																																																																			PRB4	-	NULL	ENSG00000230657		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	832	0.36	3	T	NM_002723		11461737	11461737	-1	no_errors	ENST00000279575	ensembl	human	known	69_37n	silent	783	10.50	92	SNP	0.484	G
PRB2	653247	genome.wustl.edu	37	12	11546526	11546526	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11546526T>G	ENST00000389362.4	-	3	521	c.486A>C	c.(484-486)ccA>ccC	p.P162P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	162	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTGGGGGTGGTCCTTGTG	0.602																																						dbGAP											0													225.0	202.0	209.0					12																	11546526		2195	4294	6489	-	-	-	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.486A>C	12.37:g.11546526T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00599|P02811|P04281	Silent	SNP	NULL	p.P162	ENST00000389362.4	37	c.486	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	1007	0.69	7	T	NM_006248		11546526	11546526	-1	no_errors	ENST00000389362	ensembl	human	known	69_37n	silent	697	12.55	100	SNP	0.012	G
PRDM11	56981	genome.wustl.edu	37	11	45245978	45245978	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:45245978T>G	ENST00000530656.1	+	7	1055	c.1055T>G	c.(1054-1056)gTg>gGg	p.V352G	PRDM11_ENST00000263765.4_Missense_Mutation_p.V352G|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.V318G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	352							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTGCGAAGGTGGAAGCCCAC	0.512																																					NSCLC(118;1511 1736 6472 36603 43224)	dbGAP											0													134.0	137.0	136.0					11																	45245978		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1055T>G	11.37:g.45245978T>G	ENSP00000435976:p.Val352Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.V352G	ENST00000530656.1	37	c.1055		11	.	.	.	.	.	.	.	.	.	.	T	9.090	1.001419	0.19121	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.49139	0.79;0.79;0.79	5.41	-0.346	0.12620	.	0.839339	0.10287	N	0.692859	T	0.26557	0.0649	N	0.14661	0.345	0.29168	N	0.877327	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	10	0.35671	T	0.21	-4.3293	5.9771	0.19387	0.0:0.2399:0.1251:0.635	.	352	Q9NQV5	PRD11_HUMAN	G	352;352;318	ENSP00000263765:V352G;ENSP00000435976:V352G;ENSP00000394314:V318G	ENSP00000263765:V352G	V	+	2	0	PRDM11	45202554	0.019000	0.18553	0.010000	0.14722	0.639000	0.38242	0.070000	0.14573	-0.315000	0.08703	0.456000	0.33151	GTG	PRDM11	-	NULL	ENSG00000019485		0.512	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	232	0.43	1	T	NM_020229		45245978	45245978	+1	no_errors	ENST00000263765	ensembl	human	known	69_37n	missense	245	10.47	29	SNP	0.200	G
PREB	10113	genome.wustl.edu	37	2	27356109	27356109	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:27356109A>C	ENST00000260643.2	-	3	675	c.422T>G	c.(421-423)gTa>gGa	p.V141G	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Missense_Mutation_p.V141G	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	141					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAATTCTCTACCCTGAGTTC	0.547																																						dbGAP											0													293.0	309.0	304.0					2																	27356109		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.422T>G	2.37:g.27356109A>C	ENSP00000260643:p.Val141Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V141G	ENST00000260643.2	37	c.422	CCDS1738.1	2	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753660	0.49362	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.81415	-1.48;-1.49	5.54	5.54	0.83059	.	0.060998	0.64402	D	0.000004	D	0.87313	0.6146	M	0.65975	2.015	0.33491	D	0.588687	D;D	0.76494	0.998;0.999	P;D	0.65233	0.852;0.933	D	0.91795	0.5447	10	0.87932	D	0	-10.8843	13.6135	0.62094	1.0:0.0:0.0:0.0	.	141;141	B5MC98;Q9HCU5	.;PREB_HUMAN	G	141	ENSP00000260643:V141G;ENSP00000384032:V141G	ENSP00000260643:V141G	V	-	2	0	PREB	27209613	0.968000	0.33430	0.039000	0.18376	0.920000	0.55202	4.863000	0.62983	2.106000	0.64143	0.459000	0.35465	GTA	PREB	-	NULL	ENSG00000138073		0.547	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	119	0.82	1	A	NM_013388		27356109	27356109	-1	no_errors	ENST00000260643	ensembl	human	known	69_37n	missense	71	17.05	15	SNP	0.044	C
PRIM2	5558	genome.wustl.edu	37	6	57190952	57190952	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:57190952A>C	ENST00000389488.2	+	5	546				PRIM2_ENST00000607273.1_Intron			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTCTCCAAGTACCTGCCTGAA	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.546+109A>C	6.37:g.57190952A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.343	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	55	0.00	0	A	NM_000947		57190952	57190952	+1	no_errors	ENST00000274891	ensembl	human	known	69_37n	rna	32	27.27	12	SNP	0.000	C
PRKAA2	5563	genome.wustl.edu	37	1	57169877	57169877	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:57169877A>C	ENST00000371244.4	+	7	1088	c.1022A>C	c.(1021-1023)tAc>tCc	p.Y341S		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	341	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGTGAGTTCTACCTCGCCTCT	0.448																																						dbGAP											0													122.0	111.0	114.0					1																	57169877		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1022A>C	1.37:g.57169877A>C	ENSP00000360290:p.Tyr341Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y341S	ENST00000371244.4	37	c.1022	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398823	0.83120	.	.	ENSG00000162409	ENST00000371244	T	0.09911	2.93	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.04454	-1.0950	10	0.38643	T	0.18	-11.7785	16.6093	0.84858	1.0:0.0:0.0:0.0	.	341	P54646	AAPK2_HUMAN	S	341	ENSP00000360290:Y341S	ENSP00000360290:Y341S	Y	+	2	0	PRKAA2	56942465	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.962000	0.93254	2.324000	0.78689	0.533000	0.62120	TAC	PRKAA2	-	NULL	ENSG00000162409		0.448	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	234	0.42	1	A	NM_006252		57169877	57169877	+1	no_errors	ENST00000371244	ensembl	human	known	69_37n	missense	162	11.41	21	SNP	1.000	C
PRKAG1	5571	genome.wustl.edu	37	12	49398325	49398325	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:49398325T>G	ENST00000548065.1	-	8	958	c.502A>C	c.(502-504)Acc>Ccc	p.T168P	RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.T177P|PRKAG1_ENST00000395170.3_Missense_Mutation_p.T84P|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.T117P|PRKAG1_ENST00000552212.1_Missense_Mutation_p.T136P			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	168	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CGCTTGTGGGTGAGGATGTAC	0.403																																						dbGAP											0													279.0	277.0	278.0					12																	49398325		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.502A>C	12.37:g.49398325T>G	ENSP00000447433:p.Thr168Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDT7|Q8N7V9	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.T168P	ENST00000548065.1	37	c.502	CCDS8777.1	12	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926558	0.92319	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950;ENST00000551121	D;D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	5.55	5.55	0.83447	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.046262	0.85682	D	0.000000	D	0.98745	0.9578	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99494	1.0951	10	0.87932	D	0	-18.2919	14.8221	0.70082	0.0:0.0:0.0:1.0	.	177;168	Q8N7V9;P54619	.;AAKG1_HUMAN	P	84;117;177;168;136;84;136	ENSP00000378599:T84P;ENSP00000448873:T117P;ENSP00000323867:T177P;ENSP00000447433:T168P;ENSP00000448972:T136P;ENSP00000450112:T84P;ENSP00000449637:T136P	ENSP00000323867:T177P	T	-	1	0	PRKAG1	47684592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.824000	0.86668	2.333000	0.79357	0.482000	0.46254	ACC	PRKAG1	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	ENSG00000181929		0.403	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG1	HGNC	protein_coding	OTTHUMT00000408946.1	268	0.00	0	T	NM_002733		49398325	49398325	-1	no_errors	ENST00000548065	ensembl	human	known	69_37n	missense	300	11.99	41	SNP	1.000	G
PRKCD	5580	genome.wustl.edu	37	3	53223999	53223999	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:53223999A>C	ENST00000394729.2	+	17	2182	c.1854A>C	c.(1852-1854)ccA>ccC	p.P618P	PRKCD_ENST00000330452.3_Silent_p.P618P	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	618	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GGTTGGAGCCACCTTTCAGGC	0.547																																						dbGAP											0													218.0	204.0	209.0					3																	53223999		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1854A>C	3.37:g.53223999A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P618	ENST00000394729.2	37	c.1854	CCDS2870.1	3																																																																																			PRKCD	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta	ENSG00000163932		0.547	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	229	0.00	0	A			53223999	53223999	+1	no_errors	ENST00000330452	ensembl	human	known	69_37n	silent	164	16.24	32	SNP	0.288	C
PRKD1	5587	genome.wustl.edu	37	14	30046578	30046578	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:30046578A>C	ENST00000331968.5	-	18	2834	c.2605T>G	c.(2605-2607)Tgg>Ggg	p.W869G	PRKD1_ENST00000415220.2_Missense_Mutation_p.W877G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	869					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TACTTCTCCCACCTCAGGTCA	0.502																																						dbGAP											0													148.0	128.0	135.0					14																	30046578		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2605T>G	14.37:g.30046578A>C	ENSP00000333568:p.Trp869Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.W869G	ENST00000331968.5	37	c.2605	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941176	0.73557	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.68025	-0.3;-0.28	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83868	0.0272	10	0.87932	D	0	-21.4213	16.5582	0.84512	1.0:0.0:0.0:0.0	.	869	Q15139	KPCD1_HUMAN	G	869;877	ENSP00000333568:W869G;ENSP00000390535:W877G	ENSP00000333568:W869G	W	-	1	0	PRKD1	29116329	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	TGG	PRKD1	-	superfamily_Kinase-like_dom	ENSG00000184304		0.502	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	198	1.00	2	A	NM_002742		30046578	30046578	-1	no_errors	ENST00000331968	ensembl	human	known	69_37n	missense	114	19.72	28	SNP	1.000	C
PRKD1	5587	genome.wustl.edu	37	14	30046591	30046591	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:30046591A>C	ENST00000331968.5	-	18	2821	c.2592T>G	c.(2590-2592)agT>agG	p.S864R	PRKD1_ENST00000415220.2_Missense_Mutation_p.S872R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	864					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGGTCATCACTTTCATGGG	0.498																																						dbGAP											0													145.0	128.0	134.0					14																	30046591		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2592T>G	14.37:g.30046591A>C	ENSP00000333568:p.Ser864Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S864R	ENST00000331968.5	37	c.2592	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031462	0.54790	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67865	-0.29;-0.28	6.03	-5.21	0.02815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.74467	2.265	0.52501	D	0.999959	D	0.67145	0.996	D	0.68353	0.957	T	0.78758	-0.2079	10	0.72032	D	0.01	-27.1239	17.5275	0.87804	0.7078:0.0:0.2922:0.0	.	864	Q15139	KPCD1_HUMAN	R	864;872	ENSP00000333568:S864R;ENSP00000390535:S872R	ENSP00000333568:S864R	S	-	3	2	PRKD1	29116342	0.002000	0.14202	0.371000	0.25978	0.892000	0.51952	-1.222000	0.02965	-1.670000	0.01468	-0.789000	0.03336	AGT	PRKD1	-	superfamily_Kinase-like_dom	ENSG00000184304		0.498	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	196	0.00	0	A	NM_002742		30046591	30046591	-1	no_errors	ENST00000331968	ensembl	human	known	69_37n	missense	129	12.16	18	SNP	0.442	C
PRKCH	5583	genome.wustl.edu	37	14	62014479	62014479	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:62014479A>C	ENST00000332981.5	+	13	2165	c.1780A>C	c.(1780-1782)Acc>Ccc	p.T594P	RP11-47I22.4_ENST00000556347.1_Silent_p.P98P|RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.T433P	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> I (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAAGAACCCCACCATGCGCTT	0.512																																					Melanoma(135;863 1779 8064 14443 26348)	dbGAP											0													261.0	265.0	264.0					14																	62014479		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1780A>C	14.37:g.62014479A>C	ENSP00000329127:p.Thr594Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.T594P	ENST00000332981.5	37	c.1780	CCDS9752.1	14	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520180	0.44866	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.53857	0.6;0.6	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.296681	0.29846	N	0.011042	T	0.47655	0.1457	L	0.48174	1.505	0.36233	D	0.852793	P	0.35363	0.497	B	0.38683	0.279	T	0.56703	-0.7935	10	0.33141	T	0.24	.	10.7713	0.46325	0.9298:0.0:0.0701:0.0	.	594	P24723	KPCL_HUMAN	P	594;433	ENSP00000329127:T594P;ENSP00000450981:T433P	ENSP00000329127:T594P	T	+	1	0	PRKCH	61084232	0.064000	0.20934	1.000000	0.80357	0.989000	0.77384	2.871000	0.48459	2.291000	0.77112	0.533000	0.62120	ACC	PRKCH	-	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_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000027075		0.512	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2	212	0.00	0	A	NM_006255		62014479	62014479	+1	no_errors	ENST00000332981	ensembl	human	known	69_37n	missense	171	13.64	27	SNP	0.908	C
PRKDC	5591	genome.wustl.edu	37	8	48746906	48746906	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:48746906A>C	ENST00000314191.2	-	60	8056	c.8000T>G	c.(7999-8001)gTc>gGc	p.V2667G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V2667G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2668	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGTGTGGTCGACCAGCGGGTC	0.547								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													117.0	130.0	126.0					8																	48746906		2179	4289	6468	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8000T>G	8.37:g.48746906A>C	ENSP00000313420:p.Val2667Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2667G	ENST00000314191.2	37	c.8000		8	.	.	.	.	.	.	.	.	.	.	A	4.273	0.049732	0.08243	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02345	4.4;4.33	5.36	-2.05	0.07321	.	0.495585	0.17691	N	0.165253	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.43572	-0.9383	10	0.30078	T	0.28	.	5.4302	0.16448	0.1181:0.1041:0.6807:0.097	.	2667;2668	E7EUY0;P78527	.;PRKDC_HUMAN	G	2667	ENSP00000313420:V2667G;ENSP00000345182:V2667G	ENSP00000313420:V2667G	V	-	2	0	PRKDC	48909459	0.223000	0.23663	0.000000	0.03702	0.003000	0.03518	1.979000	0.40608	-0.936000	0.03723	-0.400000	0.06385	GTC	PRKDC	-	NULL	ENSG00000253729		0.547	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		130	0.76	1	A	NM_001081640		48746906	48746906	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	0.025	C
PRMT9	90826	genome.wustl.edu	37	4	148594997	148594997	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:148594997A>C	ENST00000322396.6	-	3	609	c.367T>G	c.(367-369)Tat>Gat	p.Y123D	PRMT10_ENST00000541232.1_Missense_Mutation_p.Y10D	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		123						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTATGAAAATACCCAGCTGCT	0.378																																						dbGAP											0													72.0	73.0	73.0					4																	148594997		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000322396.6:c.367T>G	4.37:g.148594997A>C	ENSP00000314396:p.Tyr123Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y123D	ENST00000322396.6	37	c.367	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552033	0.65311	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	D;T	0.88896	-2.44;1.7	5.29	5.29	0.74685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.111023	0.64402	D	0.000006	D	0.90892	0.7138	L	0.33485	1.01	0.43588	D	0.995933	D	0.76494	0.999	D	0.73380	0.98	D	0.91155	0.4956	10	0.46703	T	0.11	.	15.2306	0.73383	1.0:0.0:0.0:0.0	.	123	Q6P2P2	ANM10_HUMAN	D	123;10	ENSP00000314396:Y123D;ENSP00000439508:Y10D	ENSP00000314396:Y123D	Y	-	1	0	PRMT10	148814447	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.969000	0.63735	2.008000	0.58898	0.533000	0.62120	TAT	PRMT10	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000164169		0.378	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	108	0.92	1	A			148594997	148594997	-1	no_errors	ENST00000322396	ensembl	human	known	69_37n	missense	103	22.56	30	SNP	0.979	C
PRMT2	3275	genome.wustl.edu	37	21	48071811	48071811	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:48071811A>C	ENST00000397637.1	+	6	1608				PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000334494.4_Missense_Mutation_p.T250P			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCTCCCCTGCACCTGTGCGTC	0.637																																						dbGAP											0													85.0	80.0	82.0					21																	48071811		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.654+2160A>C	21.37:g.48071811A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.T250P	ENST00000397637.1	37	c.748	CCDS13737.1	21	.	.	.	.	.	.	.	.	.	.	.	6.493	0.459166	0.12342	.	.	ENSG00000160310	ENST00000334494	T	0.65364	-0.15	0.767	-1.24	0.09435	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51911	-0.8645	6	0.72032	D	0.01	.	3.4384	0.07454	0.5482:0.0:0.4518:0.0	.	.	.	.	P	250	ENSP00000335490:T250P	ENSP00000335490:T250P	T	+	1	0	PRMT2	46896239	0.007000	0.16637	0.003000	0.11579	0.124000	0.20399	-0.288000	0.08377	-0.490000	0.06707	0.155000	0.16302	ACC	PRMT2	-	NULL	ENSG00000160310		0.637	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	HGNC	protein_coding	OTTHUMT00000207401.1	76	0.00	0	A	NM_001535		48071811	48071811	+1	no_errors	ENST00000334494	ensembl	human	novel	69_37n	missense	82	18.81	19	SNP	0.003	C
PROCR	10544	genome.wustl.edu	37	20	33764138	33764138	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:33764138A>C	ENST00000216968.4	+	3	572	c.490A>C	c.(490-492)Acc>Ccc	p.T164P	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	164					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGTCACCTTCACCCTGCAGCA	0.567																																						dbGAP											0													108.0	93.0	99.0					20																	33764138		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.490A>C	20.37:g.33764138A>C	ENSP00000216968:p.Thr164Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.T164P	ENST00000216968.4	37	c.490	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836040	0.32421	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.01059	5.39	5.6	4.5	0.54988	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.256162	0.34484	N	0.003931	T	0.05318	0.0141	M	0.81802	2.56	0.09310	N	1	D	0.55800	0.973	P	0.62089	0.898	T	0.11348	-1.0591	10	0.66056	D	0.02	-5.6038	8.5309	0.33333	0.9124:0.0:0.0876:0.0	.	164	Q9UNN8	EPCR_HUMAN	P	164	ENSP00000216968:T164P	ENSP00000216968:T164P	T	+	1	0	PROCR	33227799	0.001000	0.12720	0.008000	0.14137	0.004000	0.04260	0.725000	0.25970	0.956000	0.37904	0.450000	0.29827	ACC	PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000101000		0.567	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	78	0.00	0	A			33764138	33764138	+1	no_errors	ENST00000216968	ensembl	human	known	69_37n	missense	85	19.05	20	SNP	0.016	C
PROSER1	80209	genome.wustl.edu	37	13	39587343	39587343	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:39587343T>G	ENST00000352251.3	-	11	2879	c.2046A>C	c.(2044-2046)ccA>ccC	p.P682P	PROSER1_ENST00000350125.3_Silent_p.P660P|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	682	Ser-rich.																AACCATGTGGTGGAAGGGAAA	0.428																																						dbGAP											0													126.0	120.0	122.0					13																	39587343		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2046A>C	13.37:g.39587343T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	NULL	p.P660	ENST00000352251.3	37	c.1980	CCDS9368.2	13																																																																																			PROSER1	-	NULL	ENSG00000120685		0.428	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	289	0.00	0	T	NM_025138		39587343	39587343	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	silent	249	15.88	47	SNP	0.000	G
PRPF38B	55119	genome.wustl.edu	37	1	109242444	109242444	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109242444T>G	ENST00000370025.4	+	6	1712	c.1443T>G	c.(1441-1443)agT>agG	p.S481R	PRPF38B_ENST00000370021.1_Missense_Mutation_p.S370R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	481					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAACTGACAGTGTTGAAAAAT	0.353																																						dbGAP											0													106.0	105.0	105.0					1																	109242444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1443T>G	1.37:g.109242444T>G	ENSP00000359042:p.Ser481Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	pfam_PRP38	p.S481R	ENST00000370025.4	37	c.1443	CCDS788.1	1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687553	0.29962	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.29917	1.55;2.56	5.41	5.41	0.78517	.	0.131674	0.53938	D	0.000055	T	0.25232	0.0613	N	0.19112	0.55	0.44302	D	0.99717	D	0.65815	0.995	D	0.70487	0.969	T	0.07829	-1.0752	10	0.15952	T	0.53	.	15.4327	0.75116	0.0:0.0:0.0:1.0	.	481	Q5VTL8	PR38B_HUMAN	R	481;370	ENSP00000359042:S481R;ENSP00000359038:S370R	ENSP00000359038:S370R	S	+	3	2	PRPF38B	109043967	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.505000	0.66981	2.070000	0.61991	0.459000	0.35465	AGT	PRPF38B	-	NULL	ENSG00000134186		0.353	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1	695	0.00	0	T	NM_018061		109242444	109242444	+1	no_errors	ENST00000370025	ensembl	human	known	69_37n	missense	427	12.60	62	SNP	1.000	G
PRPF40B	25766	genome.wustl.edu	37	12	50025192	50025192	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:50025192T>C	ENST00000380281.1	+	2	91	c.27T>C	c.(25-27)ccT>ccC	p.P9P	PRPF40B_ENST00000261897.1_Silent_p.P3P|PRPF40B_ENST00000548825.2_Silent_p.P31P			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	9	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGATGCCCCCTCCAGGGATCC	0.587																																						dbGAP											0													158.0	156.0	157.0					12																	50025192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.27T>C	12.37:g.50025192T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P9	ENST00000380281.1	37	c.27		12																																																																																			PRPF40B	-	NULL	ENSG00000110844		0.587	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	287	0.69	2	T	NM_012272		50025192	50025192	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	silent	268	18.04	59	SNP	1.000	C
PRPF40B	25766	genome.wustl.edu	37	12	50025228	50025228	+	Silent	SNP	A	A	C	rs139675241		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:50025228A>C	ENST00000380281.1	+	2	127	c.63A>C	c.(61-63)ctA>ctC	p.L21L	PRPF40B_ENST00000261897.1_Silent_p.L15L|PRPF40B_ENST00000548825.2_Silent_p.L43L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	21	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGATGGGGCTACCCCCCATGA	0.607																																						dbGAP											0													101.0	102.0	102.0					12																	50025228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.63A>C	12.37:g.50025228A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.L21	ENST00000380281.1	37	c.63		12																																																																																			PRPF40B	-	NULL	ENSG00000110844		0.607	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	208	0.94	2	A	NM_012272		50025228	50025228	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	silent	187	14.55	32	SNP	1.000	C
PRPF4B	8899	genome.wustl.edu	37	6	4032363	4032363	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:4032363T>G	ENST00000337659.6	+	2	712	c.612T>G	c.(610-612)ggT>ggG	p.G204G	PRPF4B_ENST00000538861.1_Silent_p.G190G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	204	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAAGGGGGGTATTGAAATCG	0.358																																						dbGAP											0													119.0	137.0	131.0					6																	4032363		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.612T>G	6.37:g.4032363T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	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,pfscan_Prot_kinase_cat_dom	p.G204	ENST00000337659.6	37	c.612	CCDS4488.1	6																																																																																			PRPF4B	-	NULL	ENSG00000112739		0.358	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	392	0.00	0	T			4032363	4032363	+1	no_errors	ENST00000337659	ensembl	human	known	69_37n	silent	433	10.66	52	SNP	0.012	G
PRPF8	10594	genome.wustl.edu	37	17	1579939	1579939	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:1579939A>C	ENST00000572621.1	-	15	2513	c.2248T>G	c.(2248-2250)Tgg>Ggg	p.W750G	PRPF8_ENST00000304992.6_Missense_Mutation_p.W750G			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	750					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTGTTGGTCCACCAGTCAGCC	0.547																																						dbGAP											0													222.0	228.0	226.0					17																	1579939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2248T>G	17.37:g.1579939A>C	ENSP00000460348:p.Trp750Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.W750G	ENST00000572621.1	37	c.2248	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221462	0.79464	.	.	ENSG00000174231	ENST00000304992	D	0.83992	-1.79	6.07	6.07	0.98685	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95210	0.8324	10	0.87932	D	0	-5.0473	16.6288	0.85011	1.0:0.0:0.0:0.0	.	750	Q6P2Q9	PRP8_HUMAN	G	750	ENSP00000304350:W750G	ENSP00000304350:W750G	W	-	1	0	PRPF8	1526689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.950000	0.93019	2.326000	0.78906	0.533000	0.62120	TGG	PRPF8	-	pfam_PROCN	ENSG00000174231		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	208	0.95	2	A			1579939	1579939	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	missense	257	13.38	40	SNP	1.000	C
PRR4	11272	genome.wustl.edu	37	12	10999887	10999887	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:10999887A>C	ENST00000228811.4	-	3	217	c.180T>G	c.(178-180)ggT>ggG	p.G60G	PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000540107.1_Intron|PRR4_ENST00000544994.1_Intron	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	60	Pro-rich.				retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TACCACTATCACCAGGGGGTC	0.527																																						dbGAP											0													186.0	193.0	191.0					12																	10999887		1944	4150	6094	-	-	-	SO:0001819	synonymous_variant	0				CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.180T>G	12.37:g.10999887A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA69|F5H0D7|Q8NFB3	Silent	SNP	NULL	p.G60	ENST00000228811.4	37	c.180	CCDS41756.1	12	.	.	.	.	.	.	.	.	.	.	A	2.907	-0.226231	0.06022	.	.	ENSG00000111215	ENST00000431566	.	.	.	1.85	1.85	0.25348	.	.	.	.	.	T	0.26340	0.0643	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.19386	-1.0307	4	.	.	.	.	5.7572	0.18180	1.0:0.0:0.0:0.0	.	.	.	.	G	44	.	.	V	-	2	0	PRR4	10891154	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.117000	0.10708	1.077000	0.40990	0.338000	0.21704	GTG	PRR4	-	NULL	ENSG00000111215		0.527	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRR4	HGNC	protein_coding	OTTHUMT00000400049.1	210	0.00	0	A	NM_007244		10999887	10999887	-1	no_errors	ENST00000228811	ensembl	human	known	69_37n	silent	212	10.88	26	SNP	0.003	C
PRRC1	133619	genome.wustl.edu	37	5	126860371	126860371	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:126860371A>C	ENST00000296666.8	+	3	440	c.252A>C	c.(250-252)ccA>ccC	p.P84P	PRRC1_ENST00000512635.2_Silent_p.P84P|PRRC1_ENST00000442138.2_Silent_p.P84P	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	84	Pro-rich.					Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CTTCTGTCCCACCACTTGTTA	0.537																																						dbGAP											0													323.0	273.0	290.0					5																	126860371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.252A>C	5.37:g.126860371A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Silent	SNP	pfam_DUF84	p.P84	ENST00000296666.8	37	c.252	CCDS4143.1	5																																																																																			PRRC1	-	NULL	ENSG00000164244		0.537	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	HGNC	protein_coding	OTTHUMT00000250971.3	382	0.26	1	A	NM_130809		126860371	126860371	+1	no_errors	ENST00000512635	ensembl	human	known	69_37n	silent	368	10.22	42	SNP	0.005	C
PRRC2A	7916	genome.wustl.edu	37	6	31602024	31602024	+	Silent	SNP	A	A	C	rs577777906	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31602024A>C	ENST00000376033.2	+	19	4965	c.4731A>C	c.(4729-4731)ccA>ccC	p.P1577P	PRRC2A_ENST00000376007.4_Silent_p.P1577P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1577	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AATCTTTGCCACCTCCTCATA	0.542																																						dbGAP											0													360.0	439.0	411.0					6																	31602024		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4731A>C	6.37:g.31602024A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	pfam_BAT2_N	p.P1577	ENST00000376033.2	37	c.4731	CCDS4708.1	6																																																																																			PRRC2A	-	NULL	ENSG00000204469		0.542	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	522	0.57	3	A	NM_080686		31602024	31602024	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	silent	447	12.82	66	SNP	0.531	C
PRRC2A	7916	genome.wustl.edu	37	6	31602251	31602251	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31602251A>C	ENST00000376033.2	+	20	5086	c.4852A>C	c.(4852-4854)Act>Cct	p.T1618P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1618P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1618	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTCTCCAGCCACTAGCCGAAA	0.542																																						dbGAP											0													42.0	40.0	41.0					6																	31602251		1509	2707	4216	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4852A>C	6.37:g.31602251A>C	ENSP00000365201:p.Thr1618Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.T1618P	ENST00000376033.2	37	c.4852	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	A	8.533	0.871468	0.17322	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01767	4.65;4.65	5.31	1.44	0.22558	.	0.317242	0.27773	N	0.017902	T	0.00440	0.0014	N	0.14661	0.345	0.35939	D	0.833055	B	0.32968	0.392	B	0.31191	0.125	T	0.58335	-0.7654	10	0.87932	D	0	-0.9025	3.7654	0.08620	0.5691:0.0:0.2775:0.1534	.	1618	P48634	PRC2A_HUMAN	P	1612;1601;1618;1618;843	ENSP00000365175:T1618P;ENSP00000365201:T1618P	ENSP00000365175:T1618P	T	+	1	0	PRRC2A	31710230	0.793000	0.28825	1.000000	0.80357	0.542000	0.35054	-0.371000	0.07513	0.436000	0.26393	-0.366000	0.07423	ACT	PRRC2A	-	NULL	ENSG00000204469		0.542	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	134	0.74	1	A	NM_080686		31602251	31602251	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	93	13.89	15	SNP	0.998	C
PRRC2A	7916	genome.wustl.edu	37	6	31605054	31605054	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31605054A>C	ENST00000376033.2	+	30	6520	c.6286A>C	c.(6286-6288)Acc>Ccc	p.T2096P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.T2096P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2096	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACGCCTTCCACCTACAGTGG	0.552																																						dbGAP											0													84.0	83.0	83.0					6																	31605054		1507	2709	4216	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6286A>C	6.37:g.31605054A>C	ENSP00000365201:p.Thr2096Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.T2096P	ENST00000376033.2	37	c.6286	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779976	0.31502	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01821	4.62;4.62	5.93	4.8	0.61643	.	0.497301	0.19125	N	0.122076	T	0.00524	0.0017	N	0.08118	0	0.37491	D	0.916381	P	0.48407	0.91	B	0.41299	0.353	T	0.62699	-0.6799	10	0.87932	D	0	-1.8333	4.6184	0.12438	0.8125:0.0:0.1875:0.0	.	2096	P48634	PRC2A_HUMAN	P	2088;2077;2096;2096;1321	ENSP00000365175:T2096P;ENSP00000365201:T2096P	ENSP00000365175:T2096P	T	+	1	0	PRRC2A	31713033	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	2.143000	0.42187	2.271000	0.75665	0.533000	0.62120	ACC	PRRC2A	-	NULL	ENSG00000204469		0.552	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	141	0.70	1	A	NM_080686		31605054	31605054	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	107	14.40	18	SNP	0.998	C
PRRC2C	23215	genome.wustl.edu	37	1	171557638	171557638	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:171557638A>C	ENST00000338920.4	+	33	8424	c.8187A>C	c.(8185-8187)gcA>gcC	p.A2729A	PRRC2C_ENST00000367742.3_Silent_p.A2731A|PRRC2C_ENST00000426496.2_Silent_p.A2664A|PRRC2C_ENST00000392078.3_Silent_p.A2731A	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2729					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CACAGTTTGCACCCCAGGTGG	0.393																																						dbGAP											0													63.0	65.0	64.0					1																	171557638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8187A>C	1.37:g.171557638A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	NULL	p.H1212P	ENST00000338920.4	37	c.3635	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	A	8.213	0.800731	0.16397	.	.	ENSG00000117523	ENST00000495585	.	.	.	6.06	3.68	0.42216	.	.	.	.	.	T	0.48892	0.1525	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45483	-0.9258	4	.	.	.	.	11.4478	0.50134	0.7591:0.0:0.0:0.2409	.	.	.	.	P	1212	.	.	H	+	2	0	PRRC2C	169824261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.371000	0.52379	0.489000	0.27749	0.533000	0.62120	CAC	PRRC2C	-	NULL	ENSG00000117523		0.393	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	135	0.00	0	A	NM_015172		171557638	171557638	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495585	ensembl	human	novel	69_37n	missense	209	25.80	73	SNP	1.000	C
PRRC2C	23215	genome.wustl.edu	37	1	171561015	171561015	+	3'UTR	SNP	A	A	G	rs564222385	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:171561015A>G	ENST00000338920.4	+	0	8720				PRRC2C_ENST00000367742.3_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C						hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GGGGATTGGGAGGGGGGCGGG	0.458																																						dbGAP											0													57.0	62.0	60.0					1																	171561015		1866	4092	5958	-	-	-	SO:0001624	3_prime_UTR_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.*29A>G	1.37:g.171561015A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	RNA	SNP	-	NULL	ENST00000338920.4	37	NULL	CCDS1296.2	1																																																																																			PRRC2C	-	-	ENSG00000117523		0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	132	0.75	1	A	NM_015172		171561015	171561015	+1	no_errors	ENST00000498596	ensembl	human	known	69_37n	rna	210	12.13	29	SNP	0.000	G
PRRG3	79057	genome.wustl.edu	37	X	150868638	150868638	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:150868638A>C	ENST00000370353.3	+	3	558				PRRG3_ENST00000538575.1_Intron|PRRG3_ENST00000370354.1_Missense_Mutation_p.T68P			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGTACCACCCTGGGGCT	0.542																																						dbGAP											0													50.0	49.0	49.0					X																	150868638		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.168+10A>C	X.37:g.150868638A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	p.T68P	ENST00000370353.3	37	c.202	CCDS14699.1	X	.	.	.	.	.	.	.	.	.	.	a	14.25	2.479562	0.44044	.	.	ENSG00000130032	ENST00000370354	D	0.99201	-5.55	4.2	-5.15	0.02866	.	.	.	.	.	D	0.97139	0.9065	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.94763	0.7938	6	0.87932	D	0	.	4.2816	0.10836	0.2069:0.1373:0.5192:0.1366	.	.	.	.	P	68	ENSP00000359379:T68P	ENSP00000359379:T68P	T	+	1	0	PRRG3	150619294	0.000000	0.05858	0.000000	0.03702	0.727000	0.41649	-2.128000	0.01314	-1.547000	0.01715	-1.446000	0.01064	ACC	PRRG3	-	pfscan_GLA_domain	ENSG00000130032		0.542	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	47	0.00	0	A	NM_024082		150868638	150868638	+1	no_errors	ENST00000370354	ensembl	human	known	69_37n	missense	41	19.23	10	SNP	0.000	C
PRSS12	8492	genome.wustl.edu	37	4	119229661	119229661	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:119229661A>C	ENST00000296498.3	-	8	1843	c.1561T>G	c.(1561-1563)Tgg>Ggg	p.W521G		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	521	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ATTGTTCCCCACTGGCCATTG	0.408																																						dbGAP											0													286.0	237.0	253.0					4																	119229661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1561T>G	4.37:g.119229661A>C	ENSP00000296498:p.Trp521Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UP16	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.W521G	ENST00000296498.3	37	c.1561	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449247	0.84101	.	.	ENSG00000164099	ENST00000296498	T	0.55052	0.54	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	H	0.99794	4.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92584	0.6077	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	521	P56730	NETR_HUMAN	G	521	ENSP00000296498:W521G	ENSP00000296498:W521G	W	-	1	0	PRSS12	119449109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.730000	0.91510	2.237000	0.73441	0.528000	0.53228	TGG	PRSS12	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000164099		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	203	0.98	2	A			119229661	119229661	-1	no_errors	ENST00000296498	ensembl	human	known	69_37n	missense	196	12.50	28	SNP	1.000	C
PRSS3	5646	genome.wustl.edu	37	9	33796685	33796685	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:33796685A>C	ENST00000361005.5	+	2	256	c.256A>C	c.(256-258)Acc>Ccc	p.T86P	PRSS3_ENST00000342836.4_Missense_Mutation_p.T43P|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.T22P|PRSS3_ENST00000379405.3_Missense_Mutation_p.T29P	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGGGGGCTACACCTGTGAGGA	0.542																																						dbGAP											0													179.0	170.0	173.0					9																	33796685		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.256A>C	9.37:g.33796685A>C	ENSP00000354280:p.Thr86Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T86P	ENST00000361005.5	37	c.256	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781916	0.31502	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	3.21	0.326	0.15908	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.160621	0.56097	D	0.000031	T	0.79822	0.4512	N	0.02120	-0.675	0.30964	N	0.723325	B;P;B	0.44627	0.257;0.839;0.14	P;D;P	0.63877	0.716;0.919;0.716	T	0.77983	-0.2382	10	0.62326	D	0.03	.	8.6117	0.33806	0.6393:0.3607:0.0:0.0	.	29;86;43	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	P	86;41;43;22;29	ENSP00000354280:T86P;ENSP00000401249:T41P;ENSP00000340889:T43P;ENSP00000401828:T22P;ENSP00000368715:T29P	ENSP00000340889:T43P	T	+	1	0	PRSS3	33786685	1.000000	0.71417	0.962000	0.40283	0.012000	0.07955	3.948000	0.56660	0.270000	0.21984	-0.983000	0.02560	ACC	PRSS3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000010438		0.542	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	151	0.00	0	A	NM_002771		33796685	33796685	+1	no_errors	ENST00000361005	ensembl	human	known	69_37n	missense	132	13.64	21	SNP	0.999	C
PRSS35	167681	genome.wustl.edu	37	6	84233531	84233531	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:84233531T>G	ENST00000369700.3	+	2	548	c.371T>G	c.(370-372)gTg>gGg	p.V124G	PRSS35_ENST00000536636.1_Missense_Mutation_p.V124G	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	124	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AAGAGACAGGTGTATGGCACC	0.473																																						dbGAP											0													90.0	85.0	87.0					6																	84233531		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.371T>G	6.37:g.84233531T>G	ENSP00000358714:p.Val124Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.V124G	ENST00000369700.3	37	c.371	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629052	0.46944	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.46451	0.87;0.87	5.53	5.53	0.82687	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.129502	0.51477	D	0.000094	T	0.51958	0.1705	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	T	0.58070	-0.7701	10	0.87932	D	0	-16.7347	15.6553	0.77129	0.0:0.0:0.0:1.0	.	124	Q8N3Z0	PRS35_HUMAN	G	124	ENSP00000440870:V124G;ENSP00000358714:V124G	ENSP00000358714:V124G	V	+	2	0	PRSS35	84290250	1.000000	0.71417	0.987000	0.45799	0.060000	0.15804	7.698000	0.84413	2.112000	0.64535	0.454000	0.30748	GTG	PRSS35	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000146250		0.473	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	197	0.00	0	T	NM_153362		84233531	84233531	+1	no_errors	ENST00000369700	ensembl	human	known	69_37n	missense	118	13.14	18	SNP	1.000	G
PRUNE2	158471	genome.wustl.edu	37	9	79324285	79324285	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:79324285T>G	ENST00000376718.3	-	8	3028	c.2905A>C	c.(2905-2907)Acc>Ccc	p.T969P	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T610P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	969					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGTCTGAGGTGGAATAATTG	0.413																																						dbGAP											0													157.0	144.0	148.0					9																	79324285		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2905A>C	9.37:g.79324285T>G	ENSP00000365908:p.Thr969Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.T610P	ENST00000376718.3	37	c.1828	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.48|17.48	3.400980|3.400980	0.62288|0.62288	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.65364	.|-0.12;-0.15	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.096845	.|0.46145	.|D	.|0.000310	T|T	0.71787|0.71787	0.3381|0.3381	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.74717|0.74717	-0.3571|-0.3571	5|10	.|0.87932	.|D	.|0	-14.5921|-14.5921	16.5763|16.5763	0.84648|0.84648	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|969	.|Q8WUY3	.|PRUN2_HUMAN	P|P	290|969;610;968	.|ENSP00000365908:T969P;ENSP00000397425:T610P	.|ENSP00000365908:T969P	H|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78514105|78514105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	5.505000|5.505000	0.66981|0.66981	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	CAC|ACC	PRUNE2	-	NULL	ENSG00000106772		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	165	0.60	1	T	NM_138818		79324285	79324285	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	102	16.94	21	SNP	1.000	G
PRX	57716	genome.wustl.edu	37	19	40902817	40902817	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:40902817A>C	ENST00000324001.7	-	7	1712	c.1442T>G	c.(1441-1443)gTg>gGg	p.V481G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	481	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCTCTGGCACCTTTGGGAG	0.587																																						dbGAP											0													81.0	94.0	90.0					19																	40902817		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1442T>G	19.37:g.40902817A>C	ENSP00000326018:p.Val481Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V481G	ENST00000324001.7	37	c.1442	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	A	9.429	1.085056	0.20390	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02656	4.21	3.95	-0.773	0.10995	.	0.380247	0.19444	N	0.114113	T	0.03053	0.0090	M	0.72479	2.2	0.09310	N	0.99999	B	0.25955	0.138	B	0.26094	0.066	T	0.41070	-0.9529	10	0.22706	T	0.39	-12.1878	1.3499	0.02171	0.4321:0.144:0.2832:0.1408	.	481	Q9BXM0	PRAX_HUMAN	G	481	ENSP00000326018:V481G	ENSP00000326018:V481G	V	-	2	0	PRX	45594657	0.000000	0.05858	0.673000	0.29887	0.391000	0.30476	-0.333000	0.07894	0.149000	0.19098	0.379000	0.24179	GTG	PRX	-	NULL	ENSG00000105227		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	185	0.00	0	A	NM_020956		40902817	40902817	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	missense	103	11.11	13	SNP	0.015	C
PRX	57716	genome.wustl.edu	37	19	40902952	40902952	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:40902952A>C	ENST00000324001.7	-	7	1577	c.1307T>G	c.(1306-1308)gTg>gGg	p.V436G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	436	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCTTGGGCACCTTGACCTC	0.617																																						dbGAP											0													52.0	56.0	55.0					19																	40902952		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1307T>G	19.37:g.40902952A>C	ENSP00000326018:p.Val436Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V436G	ENST00000324001.7	37	c.1307	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601583	0.28534	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01998	4.51	4.49	-2.74	0.05932	.	1.178000	0.06386	N	0.716063	T	0.01835	0.0058	L	0.44542	1.39	0.32002	N	0.603169	P	0.38078	0.617	B	0.33960	0.173	T	0.45891	-0.9230	10	0.23302	T	0.38	-1.2295	1.4506	0.02374	0.3986:0.1443:0.3167:0.1404	.	436	Q9BXM0	PRAX_HUMAN	G	436	ENSP00000326018:V436G	ENSP00000326018:V436G	V	-	2	0	PRX	45594792	0.000000	0.05858	0.434000	0.26772	0.756000	0.42949	-0.197000	0.09518	-0.738000	0.04817	-0.290000	0.09829	GTG	PRX	-	NULL	ENSG00000105227		0.617	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	118	0.84	1	A	NM_020956		40902952	40902952	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.604	C
PSD3	23362	genome.wustl.edu	37	8	18541399	18541399	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:18541399A>C	ENST00000428502.2	-	1	210	c.44T>G	c.(43-45)gTg>gGg	p.V15G	PSD3_ENST00000327040.8_Intron|PSD3_ENST00000523619.1_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000440756.2_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	0					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGTCCTCACCCGTACCTT	0.478																																						dbGAP											0													195.0	177.0	182.0					8																	18541399		876	1991	2867	-	-	-	SO:0001583	missense	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000428502.2:c.44T>G	8.37:g.18541399A>C	ENSP00000393228:p.Val15Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology	p.V15G	ENST00000428502.2	37	c.44		8	.	.	.	.	.	.	.	.	.	.	A	11.62	1.694032	0.30052	.	.	ENSG00000156011	ENST00000381690;ENST00000428502	.	.	.	5.53	3.04	0.35103	.	.	.	.	.	T	0.45034	0.1322	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	7	0.31617	T	0.26	.	10.7712	0.46323	0.6956:0.3044:0.0:0.0	.	15	B4DKF8	.	G	15	.	ENSP00000371108:V15G	V	-	2	0	PSD3	18585679	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.721000	0.74728	0.346000	0.23899	0.383000	0.25322	GTG	PSD3	-	NULL	ENSG00000156011		0.478	PSD3-006	NOVEL	basic	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374870.1	347	0.00	0	A	NM_015310		18541399	18541399	-1	no_errors	ENST00000428502	ensembl	human	novel	69_37n	missense	312	17.20	65	SNP	1.000	C
PSD3	23362	genome.wustl.edu	37	8	18729487	18729487	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:18729487A>C	ENST00000327040.8	-	3	989	c.887T>G	c.(886-888)gTc>gGc	p.V296G	PSD3_ENST00000523619.1_Missense_Mutation_p.V231G|PSD3_ENST00000440756.2_Missense_Mutation_p.V296G	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	296					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATGTTTGACCCGGCCTGG	0.517																																						dbGAP											0													85.0	87.0	86.0					8																	18729487		1975	4158	6133	-	-	-	SO:0001583	missense	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.887T>G	8.37:g.18729487A>C	ENSP00000324127:p.Val296Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.V296G	ENST00000327040.8	37	c.887	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	A	7.615	0.675639	0.14841	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.12465	2.69;2.68;2.68	5.86	-4.66	0.03329	.	1.280690	0.05317	N	0.525821	T	0.07683	0.0193	L	0.27053	0.805	0.25512	N	0.98745	B	0.02656	0.0	B	0.04013	0.001	T	0.38243	-0.9670	10	0.49607	T	0.09	.	0.8279	0.01124	0.2999:0.133:0.3086:0.2585	.	296	E9KL50	.	G	296;296;231	ENSP00000324127:V296G;ENSP00000401704:V296G;ENSP00000430640:V231G	ENSP00000324127:V296G	V	-	2	0	PSD3	18773767	0.968000	0.33430	0.042000	0.18584	0.349000	0.29174	0.415000	0.21181	-0.671000	0.05274	0.533000	0.62120	GTC	PSD3	-	NULL	ENSG00000156011		0.517	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	243	0.41	1	A	NM_015310		18729487	18729487	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	missense	193	16.02	37	SNP	0.100	C
PSD3	23362	genome.wustl.edu	37	8	18730167	18730167	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:18730167A>C	ENST00000327040.8	-	3	309	c.207T>G	c.(205-207)ggT>ggG	p.G69G	PSD3_ENST00000523619.1_Silent_p.G4G|PSD3_ENST00000440756.2_Silent_p.G69G	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	69					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGCCTTCTCCACCTTCCTCCA	0.507																																						dbGAP											0													77.0	76.0	76.0					8																	18730167		1946	4136	6082	-	-	-	SO:0001819	synonymous_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.207T>G	8.37:g.18730167A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.G69	ENST00000327040.8	37	c.207	CCDS43720.1	8																																																																																			PSD3	-	NULL	ENSG00000156011		0.507	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	123	0.00	0	A	NM_015310		18730167	18730167	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	silent	79	17.71	17	SNP	0.903	C
PSEN1	5663	genome.wustl.edu	37	14	73637554	73637554	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:73637554A>C	ENST00000324501.5	+	4	409	c.137A>C	c.(136-138)cAc>cCc	p.H46P	PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000394157.3_Missense_Mutation_p.H46P|PSEN1_ENST00000357710.4_Missense_Mutation_p.H42P|PSEN1_ENST00000344094.3_Missense_Mutation_p.H46P|PSEN1_ENST00000557511.1_Missense_Mutation_p.H46P|PSEN1_ENST00000394164.1_Missense_Mutation_p.H42P|PSEN1_ENST00000261970.3_Missense_Mutation_p.H46P|PSEN1_ENST00000553447.2_3'UTR	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	46					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AGCCTTGGCCACCCTGAGCCA	0.483																																						dbGAP											0													68.0	66.0	67.0					14																	73637554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.137A>C	14.37:g.73637554A>C	ENSP00000326366:p.His46Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.H46P	ENST00000324501.5	37	c.137	CCDS9812.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.163|7.163	0.586170|0.586170	0.13749|0.13749	.|.	.|.	ENSG00000080815|ENSG00000080815	ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511|ENST00000553447	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.99582|.	-5.38;-3.22;-3.05;-3.37;-5.7;-3.22;-6.22;-6.05;-6.05;-5.79;-6.02;-5.8;-3.77;-6.05;-6.02|.	5.15|5.15	2.77|2.77	0.32553|0.32553	.|.	0.402329|.	0.27354|.	N|.	0.019748|.	T|T	0.17959|0.17959	0.0431|0.0431	N|N	0.08118|0.08118	0|0	0.25282|0.25282	N|N	0.989424|0.989424	B;B;P|.	0.34977|.	0.0;0.006;0.478|.	B;B;B|.	0.28709|.	0.0;0.006;0.093|.	T|T	0.25710|0.25710	-1.0124|-1.0124	10|5	0.31617|.	T|.	0.26|.	-2.8598|-2.8598	7.9128|7.9128	0.29800|0.29800	0.7908:0.1379:0.0713:0.0|0.7908:0.1379:0.0713:0.0	.|.	42;46;46|.	P49768-2;P49768;P49768-4|.	.;PSN1_HUMAN;.|.	P|P	42;42;42;42;46;42;42;46;46;42;46;46;46;46;42;42;42;46|85	ENSP00000451498:H42P;ENSP00000452128:H42P;ENSP00000450551:H42P;ENSP00000451880:H46P;ENSP00000451674:H42P;ENSP00000452477:H42P;ENSP00000377712:H46P;ENSP00000326366:H46P;ENSP00000350342:H42P;ENSP00000450652:H46P;ENSP00000261970:H46P;ENSP00000339523:H46P;ENSP00000451915:H46P;ENSP00000377719:H42P;ENSP00000451429:H46P|.	ENSP00000261970:H46P|.	H|T	+|+	2|1	0|0	PSEN1|PSEN1	72707307|72707307	0.995000|0.995000	0.38212|0.38212	0.974000|0.974000	0.42286|0.42286	0.128000|0.128000	0.20619|0.20619	2.000000|2.000000	0.40816|0.40816	0.418000|0.418000	0.25898|0.25898	-0.460000|-0.460000	0.05396|0.05396	CAC|ACC	PSEN1	-	prints_Pept_A22A_PS1	ENSG00000080815		0.483	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	53	0.00	0	A			73637554	73637554	+1	no_errors	ENST00000324501	ensembl	human	known	69_37n	missense	46	20.34	12	SNP	0.928	C
PSG11	5680	genome.wustl.edu	37	19	43523090	43523090	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43523090A>C	ENST00000401740.1	-	3	644	c.541T>G	c.(541-543)Tgg>Ggg	p.W181G	PSG11_ENST00000306322.7_Missense_Mutation_p.W59G|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.W59G|PSG11_ENST00000320078.7_Missense_Mutation_p.W181G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	181	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCATTCATCCACCACAGGTAG	0.512																																						dbGAP											0													262.0	267.0	265.0					19																	43523090		2200	4297	6497	-	-	-	SO:0001583	missense	0			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.541T>G	19.37:g.43523090A>C	ENSP00000384995:p.Trp181Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W181G	ENST00000401740.1	37	c.541	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	a	10.28	1.306740	0.23736	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	1.13	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30386	0.0763	M	0.75085	2.285	0.09310	N	1	D;P	0.65815	0.995;0.911	D;D	0.72625	0.978;0.937	T	0.07271	-1.0781	9	0.72032	D	0.01	.	4.3746	0.11263	1.0:0.0:0.0:0.0	.	59;181	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	G	181;59;59;181	ENSP00000319140:W181G;ENSP00000385427:W59G;ENSP00000304913:W59G;ENSP00000384995:W181G	ENSP00000304913:W59G	W	-	1	0	PSG11	48214930	0.004000	0.15560	0.026000	0.17262	0.050000	0.14768	0.706000	0.25690	0.477000	0.27464	0.155000	0.16302	TGG	PSG11	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000243130		0.512	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	626	0.32	2	A	NM_002785		43523090	43523090	-1	no_errors	ENST00000320078	ensembl	human	known	69_37n	missense	487	12.57	70	SNP	0.115	C
PSG3	5671	genome.wustl.edu	37	19	43233945	43233945	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43233945T>G	ENST00000327495.5	-	4	1157	c.973A>C	c.(973-975)Acc>Ccc	p.T325P	PSG3_ENST00000595140.1_Missense_Mutation_p.T325P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	325	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACATTCAGGGTGACTGGGTAA	0.493																																						dbGAP											0													146.0	131.0	136.0					19																	43233945		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.973A>C	19.37:g.43233945T>G	ENSP00000332215:p.Thr325Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T325P	ENST00000327495.5	37	c.973	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	t	10.97	1.501137	0.26861	.	.	ENSG00000221826	ENST00000327495	T	0.13657	2.57	1.36	1.36	0.22044	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38214	0.1032	M	0.91196	3.185	0.09310	N	1	D;P	0.69078	0.997;0.9	D;P	0.71656	0.974;0.864	T	0.11542	-1.0583	9	0.87932	D	0	.	4.7401	0.13008	0.0:0.0:0.0:1.0	.	303;325	Q08266;Q16557	.;PSG3_HUMAN	P	325	ENSP00000332215:T325P	ENSP00000332215:T325P	T	-	1	0	PSG3	47925785	0.023000	0.18921	0.035000	0.18076	0.038000	0.13279	0.275000	0.18698	0.582000	0.29556	0.329000	0.21502	ACC	PSG3	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000221826		0.493	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	306	0.00	0	T	NM_021016		43233945	43233945	-1	no_errors	ENST00000327495	ensembl	human	known	69_37n	missense	232	15.64	43	SNP	0.283	G
PSG2	5670	genome.wustl.edu	37	19	43579521	43579521	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43579521T>G	ENST00000406487.1	-	3	792	c.694A>C	c.(694-696)Acc>Ccc	p.T232P		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	232	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATTCAGGGTGACTGGGTCA	0.532																																						dbGAP											0													208.0	221.0	217.0					19																	43579521		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.694A>C	19.37:g.43579521T>G	ENSP00000385706:p.Thr232Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T232P	ENST00000406487.1	37	c.694	CCDS12616.1	19	.	.	.	.	.	.	.	.	.	.	N	10.44	1.350733	0.24512	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.13657	2.57	1.33	0.0545	0.14311	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34337	0.0894	M	0.86651	2.83	0.09310	N	1	D;D	0.69078	0.997;0.995	D;D	0.77004	0.989;0.986	T	0.14364	-1.0475	9	0.87932	D	0	.	3.2665	0.06867	0.3706:0.0:0.0:0.6294	.	232;232	B5MCM8;P11465	.;PSG2_HUMAN	P	232	ENSP00000385706:T232P	ENSP00000332984:T232P	T	-	1	0	PSG2	48271361	0.006000	0.16342	0.002000	0.10522	0.009000	0.06853	0.359000	0.20233	-0.266000	0.09339	0.373000	0.22412	ACC	PSG2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000242221		0.532	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	552	0.54	3	T	NM_031246		43579521	43579521	-1	no_errors	ENST00000329509	ensembl	human	known	69_37n	missense	382	13.35	59	SNP	0.003	G
PSG8	440533	genome.wustl.edu	37	19	43259155	43259155	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43259155T>G	ENST00000306511.4	-	4	1070	c.973A>C	c.(973-975)Acc>Ccc	p.T325P	PSG8_ENST00000401467.2_Missense_Mutation_p.T232P|PSG8_ENST00000406636.3_Missense_Mutation_p.T203P|PSG8_ENST00000404209.4_Missense_Mutation_p.T325P|PSG8_ENST00000600709.1_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	325	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACATTCAGGGTGACTGGGTAA	0.488																																						dbGAP											0													140.0	143.0	142.0					19																	43259155		2203	4299	6502	-	-	-	SO:0001583	missense	0			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.973A>C	19.37:g.43259155T>G	ENSP00000305005:p.Thr325Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T325P	ENST00000306511.4	37	c.973	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	N	10.97	1.500323	0.26861	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	1.38	0.137	0.14787	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37461	0.1004	M	0.91300	3.195	0.09310	N	1	B;D;D;D;D;D	0.89917	0.215;0.997;1.0;0.983;0.971;0.977	B;D;D;D;P;P	0.81914	0.248;0.974;0.995;0.98;0.851;0.908	T	0.16453	-1.0402	9	0.87932	D	0	.	3.3693	0.07215	0.3615:0.0:0.0:0.6385	.	203;232;325;232;325;325	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	P	325;203;232;137;232;325	ENSP00000385869:T325P;ENSP00000385081:T203P;ENSP00000386090:T232P;ENSP00000305005:T325P	ENSP00000305005:T325P	T	-	1	0	PSG8	47950995	0.024000	0.19004	0.027000	0.17364	0.085000	0.17905	-0.031000	0.12287	-0.231000	0.09825	0.248000	0.18094	ACC	PSG8	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000124467		0.488	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	348	0.57	2	T			43259155	43259155	-1	no_errors	ENST00000306511	ensembl	human	known	69_37n	missense	224	19.57	55	SNP	0.317	G
PSG8	440533	genome.wustl.edu	37	19	43262169	43262169	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43262169T>G	ENST00000306511.4	-	3	791	c.694A>C	c.(694-696)Acc>Ccc	p.T232P	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.T110P|PSG8_ENST00000404209.4_Missense_Mutation_p.T232P|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	232	Ig-like C2-type 1.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGATTCAGGGTGAATGGGTCA	0.532																																						dbGAP											0													202.0	212.0	209.0					19																	43262169		2203	4299	6502	-	-	-	SO:0001583	missense	0			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.694A>C	19.37:g.43262169T>G	ENSP00000305005:p.Thr232Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T232P	ENST00000306511.4	37	c.694	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	t	11.51	1.658821	0.29515	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.13657	2.57;2.57;2.57	1.53	0.353	0.16058	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35970	0.0950	M	0.88775	2.98	0.09310	N	0.999998	P;D;D;D	0.89917	0.753;0.999;1.0;1.0	B;D;D;D	0.85130	0.187;0.995;0.994;0.997	T	0.13845	-1.0494	9	0.87932	D	0	.	3.5358	0.07793	0.35:0.0:0.0:0.65	.	110;232;232;232	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	P	232;107;110;44;232	ENSP00000385869:T232P;ENSP00000385081:T110P;ENSP00000305005:T232P	ENSP00000292109:T107P	T	-	1	0	PSG8	47954009	0.012000	0.17670	0.046000	0.18839	0.061000	0.15899	0.258000	0.18387	-0.124000	0.11724	0.248000	0.18094	ACC	PSG8	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000124467		0.532	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	691	0.57	4	T			43262169	43262169	-1	no_errors	ENST00000306511	ensembl	human	known	69_37n	missense	454	13.52	71	SNP	0.419	G
PSG6	5675	genome.wustl.edu	37	19	43420346	43420346	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43420346T>G	ENST00000292125.2	-	2	402	c.358A>C	c.(358-360)Acc>Ccc	p.T120P	PSG6_ENST00000187910.2_Missense_Mutation_p.T120P|PSG6_ENST00000601833.1_Missense_Mutation_p.T49P|PSG6_ENST00000402603.4_Missense_Mutation_p.T120P	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	120	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATGTGTAAGGTGTAGGATCCT	0.468																																						dbGAP											0													332.0	297.0	309.0					19																	43420346		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.358A>C	19.37:g.43420346T>G	ENSP00000292125:p.Thr120Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T120P	ENST00000292125.2	37	c.358	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	12.19	1.862501	0.32884	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.69040	-0.37;-0.37;-0.37	2.24	0.949	0.19566	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82075	0.4958	M	0.93808	3.46	0.09310	N	1	P;D;D	0.76494	0.943;0.98;0.999	D;D;D	0.79108	0.978;0.985;0.992	T	0.67146	-0.5744	9	0.87932	D	0	.	3.7879	0.08707	0.3345:0.0:0.0:0.6655	.	120;120;120	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	P	120	ENSP00000187910:T120P;ENSP00000385736:T120P;ENSP00000292125:T120P	ENSP00000187910:T120P	T	-	1	0	PSG6	48112186	0.160000	0.22878	0.005000	0.12908	0.003000	0.03518	0.755000	0.26405	0.988000	0.38734	0.163000	0.16589	ACC	PSG6	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000170848		0.468	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	546	0.00	0	T	NM_002782		43420346	43420346	-1	no_errors	ENST00000292125	ensembl	human	known	69_37n	missense	532	12.21	74	SNP	0.008	G
PSG7	5676	genome.wustl.edu	37	19	43439571	43439571	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43439571T>G	ENST00000406070.2	-	0	511				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AAGGTGAAGGTGAAACGTCCA	0.507																																						dbGAP											0													274.0	256.0	262.0					19																	43439571		2201	4299	6500	-	-	-			0					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439571T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15232	Missense_Mutation	SNP	NULL	p.T139P	ENST00000406070.2	37	c.415		19																																																																																			PSG7	-	NULL	ENSG00000221878		0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	PSG7	HGNC	polymorphic_pseudogene	OTTHUMT00000321431.2	626	0.16	1	T	NM_001206650		43439571	43439571	-1	pseudogene	ENST00000406070	ensembl	human	known	69_37n	missense	609	11.21	77	SNP	0.001	G
PSG5	5673	genome.wustl.edu	37	19	43688949	43688949	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43688949T>G	ENST00000366175.3	-	2	545	c.415A>C	c.(415-417)Acc>Ccc	p.T139P	PSG5_ENST00000407568.1_Missense_Mutation_p.T139P|PSG5_ENST00000342951.6_Missense_Mutation_p.T139P|PSG5_ENST00000404580.1_Missense_Mutation_p.T139P|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.T139P|PSG5_ENST00000599812.1_Missense_Mutation_p.T139P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	139	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AAGTTGAAGGTGAAATATCCA	0.493																																						dbGAP											0													280.0	251.0	260.0					19																	43688949		2203	4295	6498	-	-	-	SO:0001583	missense	0				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.415A>C	19.37:g.43688949T>G	ENSP00000382334:p.Thr139Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T139P	ENST00000366175.3	37	c.415	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	N	10.22	1.290742	0.23564	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01313	5.1;5.1;5.02;5.1;5.08	0.714	0.714	0.18180	Immunoglobulin subtype (1);	.	.	.	.	T	0.04452	0.0122	L	0.50333	1.59	0.09310	N	1	D;D;P;D	0.57257	0.979;0.961;0.457;0.971	P;P;B;D	0.68765	0.811;0.826;0.435;0.96	T	0.40720	-0.9548	8	0.51188	T	0.08	.	.	.	.	.	139;139;139;139	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	P	139	ENSP00000382334:T139P;ENSP00000386008:T139P;ENSP00000386053:T139P;ENSP00000344413:T139P;ENSP00000385250:T139P	ENSP00000344413:T139P	T	-	1	0	PSG5	48380789	0.000000	0.05858	0.017000	0.16124	0.155000	0.21991	-0.466000	0.06672	0.566000	0.29273	0.155000	0.16302	ACC	PSG5	-	smart_Ig_sub	ENSG00000204941		0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	HGNC	protein_coding	OTTHUMT00000323055.1	584	0.17	1	T	NM_002781		43688949	43688949	-1	no_errors	ENST00000342951	ensembl	human	known	69_37n	missense	554	11.62	73	SNP	0.021	G
PSG5	5673	genome.wustl.edu	37	19	43689027	43689027	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43689027T>G	ENST00000366175.3	-	2	467	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	PSG5_ENST00000407568.1_Missense_Mutation_p.T113P|PSG5_ENST00000342951.6_Missense_Mutation_p.T113P|PSG5_ENST00000404580.1_Missense_Mutation_p.T113P|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.T113P|PSG5_ENST00000599812.1_Missense_Mutation_p.T113P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	113	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCTTCCCGGGTGACATTCTGG	0.433																																						dbGAP											0													348.0	322.0	331.0					19																	43689027		2203	4293	6496	-	-	-	SO:0001583	missense	0				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.337A>C	19.37:g.43689027T>G	ENSP00000382334:p.Thr113Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T113P	ENST00000366175.3	37	c.337	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	N	13.21	2.170611	0.38315	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	1.58	1.58	0.23477	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82204	0.4986	M	0.92507	3.315	0.09310	N	0.999998	D;D;D;P	0.71674	0.994;0.982;0.998;0.931	D;D;D;D	0.80764	0.993;0.993;0.994;0.944	T	0.67662	-0.5613	9	0.87932	D	0	.	5.279	0.15665	0.0:0.0:0.0:1.0	.	113;113;113;113	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	P	113	ENSP00000382334:T113P;ENSP00000386008:T113P;ENSP00000386053:T113P;ENSP00000344413:T113P;ENSP00000385250:T113P	ENSP00000344413:T113P	T	-	1	0	PSG5	48380867	0.000000	0.05858	0.350000	0.25708	0.045000	0.14185	-1.128000	0.03247	0.984000	0.38629	0.347000	0.21830	ACC	PSG5	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000204941		0.433	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	HGNC	protein_coding	OTTHUMT00000323055.1	804	0.37	3	T	NM_002781		43689027	43689027	-1	no_errors	ENST00000342951	ensembl	human	known	69_37n	missense	739	11.48	96	SNP	0.476	G
PSG4	5672	genome.wustl.edu	37	19	43708053	43708053	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:43708053T>G	ENST00000405312.3	-	2	652	c.415A>C	c.(415-417)Acc>Ccc	p.T139P	PSG4_ENST00000433626.2_Missense_Mutation_p.T139P|PSG4_ENST00000244295.9_Missense_Mutation_p.T139P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	139	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AAGGTGAAGGTGAAATGTCCA	0.522																																						dbGAP											0													253.0	251.0	251.0					19																	43708053		2136	4272	6408	-	-	-	SO:0001583	missense	0				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.415A>C	19.37:g.43708053T>G	ENSP00000384770:p.Thr139Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T139P	ENST00000405312.3	37	c.415	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	N	8.608	0.888409	0.17540	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.58060	0.77;0.36;1.57;2.84	1.65	-1.08	0.09936	Immunoglobulin subtype (1);	.	.	.	.	T	0.61874	0.2382	L	0.59436	1.845	0.09310	N	1	D;P;B	0.89917	1.0;0.891;0.014	D;D;B	0.85130	0.997;0.933;0.03	T	0.51004	-0.8760	9	0.51188	T	0.08	.	5.7301	0.18034	0.0:0.0:0.422:0.578	.	139;139;139	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	P	139;139;139;155	ENSP00000244295:T139P;ENSP00000384770:T139P;ENSP00000387864:T139P;ENSP00000388134:T155P	ENSP00000244295:T139P	T	-	1	0	PSG4	48399893	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.086000	0.03386	-0.166000	0.10890	0.145000	0.16022	ACC	PSG4	-	smart_Ig_sub	ENSG00000243137		0.522	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	608	0.16	1	T	NM_213633		43708053	43708053	-1	no_errors	ENST00000405312	ensembl	human	known	69_37n	missense	596	12.09	82	SNP	0.000	G
PSMB5	5693	genome.wustl.edu	37	14	23495423	23495423	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:23495423T>G	ENST00000361611.6	-	3	930	c.667A>C	c.(667-669)Acc>Ccc	p.T223P	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.T120P|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	223					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TCTCTGTAGGTGGCTTGGTAG	0.552																																						dbGAP											0													165.0	141.0	149.0					14																	23495423		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.667A>C	14.37:g.23495423T>G	ENSP00000355325:p.Thr223Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.T223P	ENST00000361611.6	37	c.667	CCDS9584.1	14	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569256	0.86439	.	.	ENSG00000100804	ENST00000361611;ENST00000425762	T;T	0.35605	1.3;1.3	5.25	5.25	0.73442	.	0.050532	0.85682	D	0.000000	T	0.73140	0.3549	H	0.98155	4.16	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.83885	0.0281	10	0.87932	D	0	-6.9364	14.1432	0.65334	0.0:0.0:0.0:1.0	.	223	P28074	PSB5_HUMAN	P	223;120	ENSP00000355325:T223P;ENSP00000395206:T120P	ENSP00000355325:T223P	T	-	1	0	PSMB5	22565263	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.593000	0.61034	1.988000	0.58038	0.392000	0.25879	ACC	PSMB5	-	pfam_Proteasome_sua/b	ENSG00000100804		0.552	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB5	HGNC	protein_coding	OTTHUMT00000071695.4	196	0.50	1	T	NM_002797		23495423	23495423	-1	no_errors	ENST00000361611	ensembl	human	known	69_37n	missense	267	12.99	40	SNP	1.000	G
PSMC3	5702	genome.wustl.edu	37	11	47444520	47444520	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:47444520A>C	ENST00000298852.3	-	7	753	c.596T>G	c.(595-597)gTg>gGg	p.V199G	PSMC3_ENST00000602866.1_Missense_Mutation_p.V183G|PSMC3_ENST00000530912.1_Missense_Mutation_p.V157G	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATGGCCTCCACCAGCTGCCA	0.572																																						dbGAP											0													85.0	86.0	86.0					11																	47444520		2201	4298	6499	-	-	-	SO:0001583	missense	0			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.596T>G	11.37:g.47444520A>C	ENSP00000298852:p.Val199Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.V199G	ENST00000298852.3	37	c.596	CCDS7935.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949439	0.73787	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906	D;D	0.94931	-3.56;-3.56	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.86740	2.835	0.80722	D	1	B;P	0.49961	0.303;0.93	B;P	0.50192	0.238;0.634	D	0.96545	0.9403	10	0.62326	D	0.03	-32.7937	15.1702	0.72865	1.0:0.0:0.0:0.0	.	157;199	E9PM69;P17980	.;PRS6A_HUMAN	G	199;157;143;143;164;164;164	ENSP00000298852:V199G;ENSP00000433097:V157G	ENSP00000298852:V199G	V	-	2	0	PSMC3	47401096	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.374000	0.79633	1.981000	0.57761	0.533000	0.62120	GTG	PSMC3	-	tigrfam_26S_Psome_P45	ENSG00000165916		0.572	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMC3	HGNC	protein_coding	OTTHUMT00000395660.2	137	0.72	1	A	NM_002804		47444520	47444520	-1	no_errors	ENST00000298852	ensembl	human	known	69_37n	missense	186	15.32	34	SNP	1.000	C
PSMC5	5705	genome.wustl.edu	37	17	61908408	61908408	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:61908408T>G	ENST00000310144.6	+	8	1000	c.692T>G	c.(691-693)gTg>gGg	p.V231G	PSMC5_ENST00000581882.1_Missense_Mutation_p.V223G|PSMC5_ENST00000375812.4_Missense_Mutation_p.V223G|PSMC5_ENST00000580864.1_Missense_Mutation_p.V223G|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	231	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAAGAATGGTGAGGGAGCTG	0.542																																						dbGAP											0													70.0	68.0	69.0					17																	61908408		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.692T>G	17.37:g.61908408T>G	ENSP00000310572:p.Val231Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.V231G	ENST00000310144.6	37	c.692	CCDS11645.1	17	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138054	0.56936	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.94232	-3.38;-3.38	5.64	5.64	0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97421	1.0009	10	0.87932	D	0	.	13.8576	0.63537	0.0:0.0:0.0:1.0	.	223;231	A8K3Z3;P62195	.;PRS8_HUMAN	G	231;223	ENSP00000310572:V231G;ENSP00000364970:V223G	ENSP00000310572:V231G	V	+	2	0	PSMC5	59262140	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.367000	0.80283	0.528000	0.53228	GTG	PSMC5	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000087191		0.542	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	HGNC	protein_coding	OTTHUMT00000444404.1	97	0.00	0	T	NM_002805		61908408	61908408	+1	no_errors	ENST00000310144	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	1.000	G
PSMC5	5705	genome.wustl.edu	37	17	61908770	61908770	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:61908770A>C	ENST00000310144.6	+	9	1262	c.954A>C	c.(952-954)ccA>ccC	p.P318P	PSMC5_ENST00000581882.1_Silent_p.P310P|PSMC5_ENST00000375812.4_Silent_p.P310P|PSMC5_ENST00000580864.1_Silent_p.P310P|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	318	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATG	0.542																																						dbGAP											0													110.0	115.0	113.0					17																	61908770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.954A>C	17.37:g.61908770A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.P318	ENST00000310144.6	37	c.954	CCDS11645.1	17																																																																																			PSMC5	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000087191		0.542	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	HGNC	protein_coding	OTTHUMT00000444404.1	166	0.59	1	A	NM_002805		61908770	61908770	+1	no_errors	ENST00000310144	ensembl	human	known	69_37n	silent	166	18.93	39	SNP	0.989	C
PTCH2	8643	genome.wustl.edu	37	1	45293789	45293789	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:45293789T>G	ENST00000372192.3	-	14	1914	c.1784A>C	c.(1783-1785)cAc>cCc	p.H595P	PTCH2_ENST00000447098.2_Missense_Mutation_p.H595P	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	595					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCAGTGAGGTGGGCAATGCC	0.602									Basal Cell Nevus syndrome																													dbGAP											0													85.0	90.0	88.0					1																	45293789		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1784A>C	1.37:g.45293789T>G	ENSP00000361266:p.His595Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.H595P	ENST00000372192.3	37	c.1784	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780246	0.31502	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92911	-3.12;-3.13	4.85	2.39	0.29439	.	0.131786	0.35013	N	0.003512	D	0.82692	0.5092	N	0.24115	0.695	0.45205	D	0.99821	B;B	0.16802	0.001;0.019	B;B	0.14023	0.01;0.008	T	0.72994	-0.4122	10	0.34782	T	0.22	-12.7923	5.2679	0.15609	0.0:0.1615:0.1518:0.6867	.	595;595	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	P	595	ENSP00000389703:H595P;ENSP00000361266:H595P	ENSP00000361266:H595P	H	-	2	0	PTCH2	45066376	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.358000	0.44134	0.714000	0.32081	0.455000	0.32223	CAC	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.602	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	33	0.00	0	T	NM_003738		45293789	45293789	-1	no_errors	ENST00000372192	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	1.000	G
PTBP2	58155	genome.wustl.edu	37	1	97272423	97272423	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:97272423T>G	ENST00000426398.2	+	11	1123	c.1080T>G	c.(1078-1080)ggT>ggG	p.G360G	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Splice_Site_p.G365G|PTBP2_ENST00000394184.3_Splice_Site_p.G376G|PTBP2_ENST00000609116.1_Splice_Site_p.G360G|PTBP2_ENST00000541987.1_Splice_Site_p.V318G|PTBP2_ENST00000370198.1_Splice_Site_p.G365G	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	360	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CCAAAAAAGGTGTTTATGGAG	0.353																																						dbGAP											0													110.0	109.0	110.0					1																	97272423		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1079-1T>G	1.37:g.97272423T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.V318G	ENST00000426398.2	37	c.953	CCDS754.1	1	.	.	.	.	.	.	.	.	.	.	T	9.372	1.070714	0.20147	.	.	ENSG00000117569	ENST00000541987;ENST00000394176	T	0.77229	-1.08	5.53	5.53	0.82687	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.35006	D	0.756478	.	.	.	.	.	.	T	0.78853	-0.2040	5	.	.	.	.	15.6554	0.77129	0.0:0.0:0.0:1.0	.	.	.	.	G	318;344	ENSP00000442475:V318G	.	V	+	2	0	PTBP2	97045011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.652000	0.37313	2.095000	0.63458	0.460000	0.39030	GTG	PTBP2	-	NULL	ENSG00000117569		0.353	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	135	0.00	0	T		Silent	97272423	97272423	+1	no_errors	ENST00000541987	ensembl	human	known	69_37n	missense	104	17.46	22	SNP	1.000	G
PTENP1	11191	genome.wustl.edu	37	9	33675410	33675410	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:33675410T>G	ENST00000532280.1	-	0	2087					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		GTTTTCATGGTGTTTTATCCC	0.328																																						dbGAP											0																																										-	-	-			0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675410T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.328	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	61	0.00	0	T	NR_023917		33675410	33675410	-1	no_errors	ENST00000532280	ensembl	human	known	69_37n	rna	42	20.75	11	SNP	0.410	G
PTGR1	22949	genome.wustl.edu	37	9	114345824	114345824	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:114345824A>C	ENST00000407693.2	-	6	685	c.423T>G	c.(421-423)ggT>ggG	p.G141G	PTGR1_ENST00000538962.1_Silent_p.G141G|PTGR1_ENST00000309195.5_Silent_p.G141G|PTGR1_ENST00000238248.3_Silent_p.G18G	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	141					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CTGTTTCTCCACCCTTCACAC	0.448																																					Ovarian(200;132 2151 7551 19220 46064)	dbGAP											0													175.0	159.0	164.0					9																	114345824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.423T>G	9.37:g.114345824A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Silent	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	p.G141	ENST00000407693.2	37	c.423	CCDS6779.1	9																																																																																			PTGR1	-	superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	ENSG00000106853		0.448	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR1	HGNC	protein_coding	OTTHUMT00000053647.2	351	0.28	1	A			114345824	114345824	-1	no_errors	ENST00000309195	ensembl	human	known	69_37n	silent	282	16.07	54	SNP	0.940	C
PTGS1	5742	genome.wustl.edu	37	9	125140813	125140813	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125140813A>C	ENST00000362012.2	+	4	318	c.313A>C	c.(313-315)Acc>Ccc	p.T105P	PTGS1_ENST00000223423.4_Missense_Mutation_p.T105P|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Missense_Mutation_p.T80P	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	105					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTCAATGCCACCTTCATCCG	0.617																																						dbGAP											0													66.0	64.0	65.0					9																	125140813		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.313A>C	9.37:g.125140813A>C	ENSP00000354612:p.Thr105Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.T105P	ENST00000362012.2	37	c.313	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092711	0.36952	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.68	5.68	0.88126	.	0.143817	0.64402	D	0.000007	T	0.65668	0.2713	N	0.12611	0.24	0.80722	D	1	D;B;B	0.55800	0.973;0.0;0.001	P;B;B	0.61070	0.883;0.0;0.005	T	0.70454	-0.4867	10	0.49607	T	0.09	-20.1878	15.1173	0.72413	1.0:0.0:0.0:0.0	.	80;105;105	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	P	80;105;105;63	ENSP00000437709:T80P;ENSP00000354612:T105P;ENSP00000223423:T105P;ENSP00000411606:T63P	ENSP00000223423:T105P	T	+	1	0	PTGS1	124180634	0.192000	0.23301	1.000000	0.80357	0.995000	0.86356	0.788000	0.26872	2.163000	0.67991	0.460000	0.39030	ACC	PTGS1	-	superfamily_Haem_peroxidase	ENSG00000095303		0.617	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	131	0.76	1	A			125140813	125140813	+1	no_errors	ENST00000362012	ensembl	human	known	69_37n	missense	91	18.58	21	SNP	1.000	C
PTHLH	5744	genome.wustl.edu	37	12	28116533	28116533	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:28116533T>G	ENST00000545234.1	-	5	812	c.272A>C	c.(271-273)cAc>cCc	p.H91P	PTHLH_ENST00000395872.1_Missense_Mutation_p.H91P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.H91P|PTHLH_ENST00000201015.4_Missense_Mutation_p.H91P|PTHLH_ENST00000539239.1_Missense_Mutation_p.H91P|PTHLH_ENST00000535992.1_Missense_Mutation_p.H91P|PTHLH_ENST00000395868.3_Missense_Mutation_p.H91P|PTHLH_ENST00000354417.3_Missense_Mutation_p.H91P			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	91					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCGGACGGGGTGGTTCTTTGT	0.517																																						dbGAP											0													179.0	180.0	180.0					12																	28116533		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.272A>C	12.37:g.28116533T>G	ENSP00000441765:p.His91Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15251|Q6FH74	Missense_Mutation	SNP	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.H91P	ENST00000545234.1	37	c.272	CCDS44853.1	12	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457281	0.43634	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.83	5.83	0.93111	.	0.290002	0.39834	N	0.001260	T	0.78342	0.4268	N	0.08118	0	0.39498	D	0.96815	D	0.56287	0.975	P	0.55055	0.767	T	0.80894	-0.1178	10	0.34782	T	0.22	-28.3963	15.3593	0.74457	0.0:0.0:0.0:1.0	.	91	P12272	PTHR_HUMAN	P	91;91;91;91;91;91;91;91;91;99	ENSP00000379213:H91P;ENSP00000441571:H91P;ENSP00000441765:H91P;ENSP00000441890:H91P;ENSP00000346398:H91P;ENSP00000201015:H91P;ENSP00000440613:H91P;ENSP00000379209:H91P;ENSP00000444519:H91P;ENSP00000445157:H99P	ENSP00000201015:H91P	H	-	2	0	PTHLH	28007800	1.000000	0.71417	0.951000	0.38953	0.405000	0.30901	4.970000	0.63742	2.229000	0.72834	0.477000	0.44152	CAC	PTHLH	-	pfam_PTH/PTH-rel	ENSG00000087494		0.517	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1	204	0.97	2	T	NM_198965		28116533	28116533	-1	no_errors	ENST00000354417	ensembl	human	known	69_37n	missense	187	21.34	51	SNP	1.000	G
PTPN14	5784	genome.wustl.edu	37	1	214557526	214557526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:214557526delT	ENST00000366956.5	-	13	1866	c.1672delA	c.(1672-1674)atgfs	p.M558fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	558					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTTAAGCATGTGGGCCGTG	0.642																																					Colon(92;557 1424 24372 34121 40073)	dbGAP											0													65.0	67.0	66.0					1																	214557526		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1672delA	1.37:g.214557526delT	ENSP00000355923:p.Met558fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSI0	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.M558fs	ENST00000366956.5	37	c.1672	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.642	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	80	0.00	0	T	NM_005401		214557526	214557526	-1	no_errors	ENST00000366956	ensembl	human	known	69_37n	frame_shift_del	94	24.41	31	DEL	0.995	-
PTPN2	5771	genome.wustl.edu	37	18	12817187	12817187	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:12817187T>G	ENST00000309660.5	-	6	766	c.673A>C	c.(673-675)Acc>Ccc	p.T225P	PTPN2_ENST00000591115.1_Missense_Mutation_p.T248P|PTPN2_ENST00000353319.4_Missense_Mutation_p.T225P|PTPN2_ENST00000591497.1_Missense_Mutation_p.T196P|PTPN2_ENST00000327283.3_Missense_Mutation_p.T225P	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	225	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AGAGAGAAGGTGCCAGAGCGC	0.428																																						dbGAP											0													100.0	103.0	102.0					18																	12817187		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.673A>C	18.37:g.12817187T>G	ENSP00000311857:p.Thr225Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T225P	ENST00000309660.5	37	c.673	CCDS11865.1	18	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863582	0.71949	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.86297	-2.1;-2.1;-2.1	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.56097	D	0.000034	D	0.96611	0.8894	H	0.99444	4.57	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.85130	0.997;0.992;0.997;0.976;0.995	D	0.98455	1.0593	10	0.87932	D	0	.	15.1938	0.73067	0.0:0.0:0.0:1.0	.	225;225;202;225;225	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	P	225;225;202;225	ENSP00000320298:T225P;ENSP00000320546:T225P;ENSP00000311857:T225P	ENSP00000311857:T225P	T	-	1	0	PTPN2	12807187	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.098000	0.71458	1.980000	0.57719	0.482000	0.46254	ACC	PTPN2	-	pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000175354		0.428	PTPN2-002	KNOWN	basic|CCDS	protein_coding	PTPN2	HGNC	protein_coding	OTTHUMT00000254613.3	292	0.34	1	T	NM_002828, NM_080422, NM_080423		12817187	12817187	-1	no_errors	ENST00000309660	ensembl	human	known	69_37n	missense	276	12.85	41	SNP	1.000	G
PTPN3	5774	genome.wustl.edu	37	9	112185103	112185103	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:112185103A>C	ENST00000374541.2	-	13	1135	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.V213G|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	344					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCCGCCAATCACCTTTTTGCA	0.463																																						dbGAP											0													216.0	199.0	205.0					9																	112185103		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1031T>G	9.37:g.112185103A>C	ENSP00000363667:p.Val344Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.V344G	ENST00000374541.2	37	c.1031	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691621	0.68271	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	D;D	0.82526	-1.62;-1.62	5.55	5.55	0.83447	.	0.126264	0.52532	D	0.000064	D	0.82549	0.5061	L	0.47716	1.5	0.80722	D	1	B	0.26635	0.155	B	0.39617	0.305	T	0.78344	-0.2240	10	0.26408	T	0.33	.	15.6992	0.77528	1.0:0.0:0.0:0.0	.	344	P26045	PTN3_HUMAN	G	344;213;344	ENSP00000416654:V213G;ENSP00000363667:V344G	ENSP00000363667:V344G	V	-	2	0	PTPN3	111224924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.124000	0.65301	0.528000	0.53228	GTG	PTPN3	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4	ENSG00000070159		0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	198	0.00	0	A			112185103	112185103	-1	no_errors	ENST00000374541	ensembl	human	known	69_37n	missense	201	11.79	27	SNP	1.000	C
PTPRA	5786	genome.wustl.edu	37	20	3002776	3002776	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:3002776T>G	ENST00000216877.6	+	14	1611	c.1211T>G	c.(1210-1212)gTg>gGg	p.V404G	PTPRA_ENST00000356147.3_Missense_Mutation_p.V404G|PTPRA_ENST00000318266.5_Missense_Mutation_p.V404G|PTPRA_ENST00000380393.3_Missense_Mutation_p.V413G|PTPRA_ENST00000425918.2_Missense_Mutation_p.V424G|PTPRA_ENST00000358719.4_Missense_Mutation_p.V269G|PTPRA_ENST00000399903.2_Missense_Mutation_p.V413G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	413	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACTTTGGGGTGCCTTTTACC	0.557																																						dbGAP											0													181.0	136.0	151.0					20																	3002776		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1211T>G	20.37:g.3002776T>G	ENSP00000216877:p.Val404Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V424G	ENST00000216877.6	37	c.1271	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803264	0.90623	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.64402	U	0.000001	D	0.94192	0.8136	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.85130	0.994;0.997;0.906	D	0.95398	0.8487	10	0.87932	D	0	.	16.2025	0.82095	0.0:0.0:0.0:1.0	.	424;413;404	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	G	413;404;413;269;23;424;404;404	ENSP00000369756:V413G;ENSP00000216877:V404G;ENSP00000382787:V413G;ENSP00000351559:V269G;ENSP00000393553:V424G;ENSP00000314568:V404G;ENSP00000348468:V404G	ENSP00000216877:V404G	V	+	2	0	PTPRA	2950776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.231000	0.72958	0.459000	0.35465	GTG	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.557	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	120	0.00	0	T			3002776	3002776	+1	no_errors	ENST00000425918	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8528725	8528725	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:8528725A>C	ENST00000381196.4	-	12	950	c.407T>G	c.(406-408)gTg>gGg	p.V136G	PTPRD_ENST00000486161.1_Missense_Mutation_p.V136G|PTPRD_ENST00000537002.1_Missense_Mutation_p.V136G|PTPRD_ENST00000463477.1_Missense_Mutation_p.V136G|PTPRD_ENST00000358503.5_Missense_Mutation_p.V136G|PTPRD_ENST00000397611.3_Missense_Mutation_p.V136G|PTPRD_ENST00000540109.1_Missense_Mutation_p.V136G|PTPRD_ENST00000397617.3_Missense_Mutation_p.V136G|PTPRD_ENST00000356435.5_Missense_Mutation_p.V136G|PTPRD_ENST00000397606.3_Missense_Mutation_p.V136G|PTPRD_ENST00000355233.5_Missense_Mutation_p.V136G|PTPRD_ENST00000360074.4_Missense_Mutation_p.V136G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	136	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACGCTCAACCACCTTCAACTG	0.468										TSP Lung(15;0.13)																												dbGAP											0													96.0	91.0	93.0					9																	8528725		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.407T>G	9.37:g.8528725A>C	ENSP00000370593:p.Val136Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.V136G	ENST00000381196.4	37	c.407	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233557	0.58886	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;2.5	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	L	0.42245	1.32	0.80722	D	1	D;B;D;D;D;B;D;P;B;P	0.89917	1.0;0.174;1.0;1.0;1.0;0.01;1.0;0.862;0.14;0.793	D;B;D;D;D;B;D;B;B;P	0.87578	0.996;0.191;0.997;0.993;0.998;0.007;0.997;0.37;0.097;0.503	T	0.74682	-0.3583	9	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	136;136;136;136;136;136;136;136;136;136	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	G	136	ENSP00000370593:V136G;ENSP00000348812:V136G;ENSP00000353187:V136G;ENSP00000351293:V136G;ENSP00000347373:V136G;ENSP00000380741:V136G;ENSP00000380735:V136G;ENSP00000440515:V136G;ENSP00000438164:V136G;ENSP00000417093:V136G;ENSP00000380731:V136G;ENSP00000417661:V136G	.	V	-	2	0	PTPRD	8518725	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	GTG	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000153707		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	198	1.00	2	A			8528725	8528725	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	121	19.74	30	SNP	1.000	C
PTPRE	5791	genome.wustl.edu	37	10	129864432	129864432	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:129864432A>C	ENST00000254667.3	+	11	1096	c.817A>C	c.(817-819)Acc>Ccc	p.T273P	PTPRE_ENST00000306042.5_Missense_Mutation_p.T215P|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.T273P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	273	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GGTCGACTACACCATCCGGAA	0.522																																					Colon(52;977 1184 20575 41685)	dbGAP											0													269.0	204.0	226.0					10																	129864432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.817A>C	10.37:g.129864432A>C	ENSP00000254667:p.Thr273Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T273P	ENST00000254667.3	37	c.817	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246028	0.80024	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.13538	2.58;2.58;2.58	5.05	3.9	0.45041	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.72894	2.215	0.80722	D	1	P;B;B;B	0.50819	0.939;0.18;0.058;0.18	D;B;B;B	0.78314	0.991;0.293;0.12;0.293	T	0.03483	-1.1032	10	0.72032	D	0.01	.	11.3378	0.49513	0.8477:0.1523:0.0:0.0	.	251;273;215;273	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	P	273;251;273;215	ENSP00000254667:T273P;ENSP00000402337:T273P;ENSP00000303350:T215P	ENSP00000254667:T273P	T	+	1	0	PTPRE	129754422	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	9.044000	0.93805	0.745000	0.32763	0.459000	0.35465	ACC	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	211	0.00	0	A			129864432	129864432	+1	no_errors	ENST00000254667	ensembl	human	known	69_37n	missense	189	14.41	32	SNP	1.000	C
PTPRF	5792	genome.wustl.edu	37	1	44064415	44064415	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:44064415T>G	ENST00000359947.4	+	13	2484	c.2144T>G	c.(2143-2145)gTg>gGg	p.V715G	PTPRF_ENST00000422171.2_Missense_Mutation_p.V72G|PTPRF_ENST00000438120.1_Missense_Mutation_p.V715G|PTPRF_ENST00000372413.3_Missense_Mutation_p.V715G|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.V715G	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	715	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGCGGAAGGTGGAGGTGGAG	0.617																																						dbGAP											0													57.0	56.0	56.0					1																	44064415		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2144T>G	1.37:g.44064415T>G	ENSP00000353030:p.Val715Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.V715G	ENST00000359947.4	37	c.2144	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436179|4.436179	0.83885|0.83885	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000429895	T;T;T;T;T|.	0.61274|.	0.12;0.12;0.12;0.12;0.12|.	4.35|4.35	4.35|4.35	0.52113|0.52113	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.577886|.	0.13038|.	N|.	0.418740|.	D|D	0.87593|0.87593	0.6216|0.6216	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;B;D;B;B|.	0.67145|.	0.996;0.083;0.99;0.034;0.17|.	D;B;D;B;B|.	0.72625|.	0.978;0.16;0.924;0.053;0.297|.	D|D	0.91781|0.91781	0.5435|0.5435	10|5	0.87932|.	D|.	0|.	.|.	13.8881|13.8881	0.63721|0.63721	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	371;72;474;715;715|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	G|G	715;715;715;715;72|372	ENSP00000353030:V715G;ENSP00000398822:V715G;ENSP00000361491:V715G;ENSP00000361490:V715G;ENSP00000387885:V72G|.	ENSP00000353030:V715G|.	V|W	+|+	2|1	0|0	PTPRF|PTPRF	43837002|43837002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	8.004000|8.004000	0.88535|0.88535	1.740000|1.740000	0.51718|0.51718	0.369000|0.369000	0.22263|0.22263	GTG|TGG	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142949		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	112	0.00	0	T			44064415	44064415	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	1.000	G
PTPRG	5793	genome.wustl.edu	37	3	62278136	62278136	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:62278136A>C	ENST00000474889.1	+	29	4473	c.4096A>C	c.(4096-4098)Acc>Ccc	p.T1366P	PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.T1337P|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1366	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGCCCTTACCACCCTGTCCCA	0.408																																						dbGAP											0													154.0	148.0	150.0					3																	62278136		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4096A>C	3.37:g.62278136A>C	ENSP00000418112:p.Thr1366Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.T1366P	ENST00000474889.1	37	c.4096	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240644	0.79912	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.12039	2.72;2.72	4.76	4.76	0.60689	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.105488	0.64402	D	0.000004	T	0.42944	0.1225	M	0.88105	2.93	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.997	D;D;P	0.71184	0.952;0.972;0.904	T	0.53308	-0.8457	10	0.87932	D	0	.	14.4326	0.67261	1.0:0.0:0.0:0.0	.	612;1337;1366	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	P	1366;1337	ENSP00000418112:T1366P;ENSP00000295874:T1337P	ENSP00000295874:T1337P	T	+	1	0	PTPRG	62253176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.139000	0.94554	2.006000	0.58801	0.477000	0.44152	ACC	PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000144724		0.408	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	291	0.00	0	A	NM_002841		62278136	62278136	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	missense	277	17.26	58	SNP	1.000	C
PTPRJ	5795	genome.wustl.edu	37	11	48146675	48146675	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:48146675A>C	ENST00000418331.2	+	6	1382	c.1030A>C	c.(1030-1032)Acc>Ccc	p.T344P	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T344P	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	344	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACAATGCCACCGTTTATTC	0.562																																						dbGAP											0													87.0	92.0	91.0					11																	48146675		2201	4298	6499	-	-	-	SO:0001583	missense	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1030A>C	11.37:g.48146675A>C	ENSP00000400010:p.Thr344Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T344P	ENST00000418331.2	37	c.1030	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980029	0.53827	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.05319	3.46;3.46	5.38	1.7	0.24286	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13798	0.0334	L	0.59436	1.845	0.31617	N	0.650792	D;D	0.60160	0.977;0.987	P;P	0.60682	0.878;0.834	T	0.15321	-1.0441	9	0.72032	D	0.01	.	3.8704	0.09035	0.6723:0.0:0.1727:0.1551	.	344;344	Q12913;Q6P4H4	PTPRJ_HUMAN;.	P	344	ENSP00000400010:T344P;ENSP00000409733:T344P	ENSP00000278456:T344P	T	+	1	0	PTPRJ	48103251	0.571000	0.26659	0.089000	0.20774	0.001000	0.01503	0.834000	0.27518	0.026000	0.15269	-0.376000	0.06991	ACC	PTPRJ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000149177		0.562	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	98	0.00	0	A			48146675	48146675	+1	no_errors	ENST00000418331	ensembl	human	known	69_37n	missense	132	14.19	22	SNP	0.447	C
PTPRK	5796	genome.wustl.edu	37	6	128718727	128718727	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:128718727T>G	ENST00000368215.3	-	2	206	c.207A>C	c.(205-207)ccA>ccC	p.P69P	PTPRK_ENST00000368226.4_Silent_p.P69P|PTPRK_ENST00000368207.3_Silent_p.P69P|PTPRK_ENST00000368227.3_Silent_p.P69P|PTPRK_ENST00000368210.3_Silent_p.P69P|PTPRK_ENST00000532331.1_Silent_p.P69P|PTPRK_ENST00000368213.5_Silent_p.P69P|PTPRK_ENST00000525459.1_Silent_p.P69P|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	69	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCATCTCGGGTGGTAGATAAT	0.423																																						dbGAP											0													189.0	190.0	190.0					6																	128718727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.207A>C	6.37:g.128718727T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P69	ENST00000368215.3	37	c.207		6	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135518	0.21123	.	.	ENSG00000152894	ENST00000427676	.	.	.	5.54	-10.5	0.00291	.	.	.	.	.	T	0.10208	0.0250	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15407	-1.0438	6	.	.	.	.	4.2005	0.10464	0.2541:0.0629:0.4743:0.2087	.	17	F5GWP2	.	P	17	.	.	H	-	2	0	PTPRK	128760420	0.011000	0.17503	0.800000	0.32199	0.858000	0.48976	-1.410000	0.02480	-1.143000	0.02866	-0.331000	0.08364	CAC	PTPRK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000152894		0.423	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	264	0.38	1	T			128718727	128718727	-1	no_errors	ENST00000368227	ensembl	human	known	69_37n	silent	193	18.14	43	SNP	0.570	G
PTPRN	5798	genome.wustl.edu	37	2	220166326	220166326	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:220166326A>C	ENST00000295718.2	-	7	1350	c.1110T>G	c.(1108-1110)ggT>ggG	p.G370G	PTPRN_ENST00000423636.2_Silent_p.G280G|PTPRN_ENST00000409251.3_Silent_p.G370G|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	370					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TTCTTCCTGCACCCTTGGGCA	0.632																																						dbGAP											0													72.0	74.0	74.0					2																	220166326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1110T>G	2.37:g.220166326A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G370	ENST00000295718.2	37	c.1110	CCDS2440.1	2																																																																																			PTPRN	-	NULL	ENSG00000054356		0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	100	0.98	1	A			220166326	220166326	-1	no_errors	ENST00000295718	ensembl	human	known	69_37n	silent	59	19.18	14	SNP	0.000	C
PTPRR	5801	genome.wustl.edu	37	12	71050575	71050575	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:71050575A>C	ENST00000283228.2	-	13	2241	c.1789T>G	c.(1789-1791)Tgt>Ggt	p.C597G	PTPRR_ENST00000440835.2_Missense_Mutation_p.C352G|PTPRR_ENST00000378778.1_Missense_Mutation_p.C391G|PTPRR_ENST00000342084.4_Missense_Mutation_p.C485G|PTPRR_ENST00000549308.1_Missense_Mutation_p.C352G|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	597	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCAATAAAACACCCTGTTCTA	0.388																																						dbGAP											0													183.0	155.0	164.0					12																	71050575		2203	4300	6503	-	-	-	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1789T>G	12.37:g.71050575A>C	ENSP00000283228:p.Cys597Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C597G	ENST00000283228.2	37	c.1789	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238235	0.79800	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000019	T	0.64571	0.2610	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.73990	-0.3808	10	0.87932	D	0	-10.9942	15.5683	0.76313	1.0:0.0:0.0:0.0	.	485;391;597	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	G	352;597;391;485;352	ENSP00000391750:C352G;ENSP00000283228:C597G;ENSP00000368054:C391G;ENSP00000339605:C485G;ENSP00000446943:C352G	ENSP00000283228:C597G	C	-	1	0	PTPRR	69336842	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	8.542000	0.90647	2.080000	0.62538	0.533000	0.62120	TGT	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153233		0.388	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	191	0.00	0	A	NM_002849		71050575	71050575	-1	no_errors	ENST00000283228	ensembl	human	known	69_37n	missense	165	18.14	37	SNP	1.000	C
PTPRZ1	5803	genome.wustl.edu	37	7	121650607	121650607	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:121650607A>C	ENST00000393386.2	+	12	1918	c.1507A>C	c.(1507-1509)Act>Cct	p.T503P	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T503P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	503					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTAAATTCCACTTCCCAACC	0.433																																						dbGAP											0													94.0	85.0	88.0					7																	121650607		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1507A>C	7.37:g.121650607A>C	ENSP00000377047:p.Thr503Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.T503P	ENST00000393386.2	37	c.1507	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821649	0.50633	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.55760	0.66;0.5	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.72894	2.215	0.38266	D	0.942027	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.77848	-0.2435	10	0.87932	D	0	.	16.1555	0.81664	1.0:0.0:0.0:0.0	.	503;503	C9JFM0;P23471	.;PTPRZ_HUMAN	P	503	ENSP00000377047:T503P;ENSP00000410000:T503P	ENSP00000377047:T503P	T	+	1	0	PTPRZ1	121437843	0.999000	0.42202	0.920000	0.36463	0.731000	0.41821	4.495000	0.60353	2.222000	0.72286	0.533000	0.62120	ACT	PTPRZ1	-	NULL	ENSG00000106278		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	309	0.32	1	A	NM_002851		121650607	121650607	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	265	14.19	44	SNP	0.991	C
PTPRZ1	5803	genome.wustl.edu	37	7	121652121	121652121	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:121652121A>C	ENST00000393386.2	+	12	3432	c.3021A>C	c.(3019-3021)ttA>ttC	p.L1007F	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1007					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATTTCTTTTACCTGACACAG	0.438																																						dbGAP											0													120.0	119.0	119.0					7																	121652121		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3021A>C	7.37:g.121652121A>C	ENSP00000377047:p.Leu1007Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.L1007F	ENST00000393386.2	37	c.3021	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844726	0.51164	.	.	ENSG00000106278	ENST00000393386	T	0.48201	0.82	5.47	-5.31	0.02730	.	0.997119	0.08121	N	0.994679	T	0.49029	0.1533	M	0.62723	1.935	0.80722	D	1	P	0.46706	0.883	P	0.49752	0.621	T	0.63111	-0.6710	10	0.72032	D	0.01	.	8.0308	0.30463	0.2676:0.2403:0.4921:0.0	.	1007	P23471	PTPRZ_HUMAN	F	1007	ENSP00000377047:L1007F	ENSP00000377047:L1007F	L	+	3	2	PTPRZ1	121439357	0.988000	0.35896	0.021000	0.16686	0.996000	0.88848	0.136000	0.15974	-0.895000	0.03920	0.528000	0.53228	TTA	PTPRZ1	-	NULL	ENSG00000106278		0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	199	1.00	2	A	NM_002851		121652121	121652121	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	107	23.57	33	SNP	0.883	C
PTTG1	9232	genome.wustl.edu	37	5	159854867	159854867	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:159854867A>C	ENST00000393964.1	+	4	919	c.516A>C	c.(514-516)ccA>ccC	p.P172P	PTTG1_ENST00000520452.1_Silent_p.P172P|PTTG1_ENST00000352433.5_Silent_p.P172P|PTTG1_ENST00000519287.1_3'UTR	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	172					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TGCCCTCTCCACCATGGGAAT	0.517																																						dbGAP											0													63.0	61.0	62.0					5																	159854867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.516A>C	5.37:g.159854867A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Securin_separation_inhibitor	p.P172	ENST00000393964.1	37	c.516	CCDS4353.1	5																																																																																			PTTG1	-	pfam_Securin_separation_inhibitor	ENSG00000164611		0.517	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1	HGNC	protein_coding	OTTHUMT00000252677.1	114	0.00	0	A	NM_004219		159854867	159854867	+1	no_errors	ENST00000352433	ensembl	human	known	69_37n	silent	119	14.39	20	SNP	0.000	C
TBC1D1	23216	genome.wustl.edu	37	4	37962571	37962571	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:37962571A>C	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Silent_p.P172P|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCCCTCTCCACCATGGGAAT	0.478																																						dbGAP											0													178.0	181.0	180.0					4																	37962571		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53559A>C	4.37:g.37962571A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	pfam_Securin_separation_inhibitor	p.P172	ENST00000261439.4	37	c.516	CCDS33972.1	4																																																																																			PTTG2	-	pfam_Securin_separation_inhibitor	ENSG00000250254		0.478	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG2	HGNC	protein_coding	OTTHUMT00000317443.2	328	0.30	1	A	NM_015173		37962571	37962571	+1	no_errors	ENST00000504686	ensembl	human	known	69_37n	silent	354	10.35	41	SNP	0.000	C
PVR	5817	genome.wustl.edu	37	19	45157231	45157231	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:45157231A>C	ENST00000425690.3	+	4	1086	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	PVR_ENST00000403059.4_Missense_Mutation_p.T263P|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.T263P|PVR_ENST00000406449.4_Missense_Mutation_p.T263P	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	263	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GAATGAGGCCACCCTGACCTG	0.572																																						dbGAP											0													105.0	110.0	108.0					19																	45157231		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.787A>C	19.37:g.45157231A>C	ENSP00000402060:p.Thr263Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T263P	ENST00000425690.3	37	c.787	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	A	14.74	2.624210	0.46840	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.72	-1.72	0.08107	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.255370	0.05728	N	0.599127	T	0.44953	0.1318	M	0.72894	2.215	0.09310	N	1	P;P;P;P	0.49961	0.893;0.93;0.856;0.881	P;P;P;P	0.61658	0.626;0.827;0.827;0.892	T	0.38222	-0.9671	10	0.33141	T	0.24	.	3.2044	0.06661	0.4406:0.0:0.2733:0.2862	.	263;263;263;263	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	P	263	ENSP00000340870:T263P;ENSP00000402060:T263P;ENSP00000383907:T263P;ENSP00000385344:T263P	ENSP00000340870:T263P	T	+	1	0	PVR	49849071	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.429000	0.06982	-0.263000	0.09378	0.482000	0.46254	ACC	PVR	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000073008		0.572	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	89	0.00	0	A	NM_006505		45157231	45157231	+1	no_errors	ENST00000425690	ensembl	human	known	69_37n	missense	59	26.83	22	SNP	0.000	C
PVR	5817	genome.wustl.edu	37	19	45161048	45161048	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:45161048A>C	ENST00000425690.3	+	5	1160	c.861A>C	c.(859-861)ccA>ccC	p.P287P	PVR_ENST00000403059.4_Silent_p.P287P|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Silent_p.P287P|PVR_ENST00000406449.4_Silent_p.P287P	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	287	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GTCCCCTGCCACCCTTTGCTG	0.587											OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													54.0	50.0	51.0					19																	45161048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.861A>C	19.37:g.45161048A>C		Somatic	929	WXS	Illumina GAIIx	Phase_IV	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P287	ENST00000425690.3	37	c.861	CCDS12640.1	19																																																																																			PVR	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000073008		0.587	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	52	0.00	0	A	NM_006505		45161048	45161048	+1	no_errors	ENST00000425690	ensembl	human	known	69_37n	silent	36	17.78	8	SNP	0.006	C
PVRL2	5819	genome.wustl.edu	37	19	45377235	45377235	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:45377235A>C	ENST00000252483.5	+	4	838	c.838A>C	c.(838-840)Acc>Ccc	p.T280P	PVRL2_ENST00000252485.4_Missense_Mutation_p.T280P	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	280	Ig-like C2-type 2.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TACTGATGCCACCCTGAGCTG	0.617																																						dbGAP											0													114.0	101.0	105.0					19																	45377235		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.838A>C	19.37:g.45377235A>C	ENSP00000252483:p.Thr280Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T280P	ENST00000252483.5	37	c.838	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727284	0.48833	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.30448	2.26;1.53	4.78	-0.165	0.13355	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.494637	0.18516	N	0.138910	T	0.46698	0.1406	M	0.85630	2.765	0.26870	N	0.967768	P;P	0.51653	0.881;0.947	P;P	0.58780	0.845;0.823	T	0.33111	-0.9881	10	0.52906	T	0.07	.	5.2542	0.15539	0.3652:0.0:0.0855:0.5493	.	280;280	Q92692;Q92692-2	PVRL2_HUMAN;.	P	280	ENSP00000252483:T280P;ENSP00000252485:T280P	ENSP00000252483:T280P	T	+	1	0	PVRL2	50069075	0.489000	0.26004	0.998000	0.56505	0.327000	0.28475	0.345000	0.19979	0.001000	0.14605	0.379000	0.24179	ACC	PVRL2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000130202		0.617	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	110	0.89	1	A	NM_002856		45377235	45377235	+1	no_errors	ENST00000252483	ensembl	human	known	69_37n	missense	90	20.87	24	SNP	0.994	C
PVRL3	25945	genome.wustl.edu	37	3	110837624	110837624	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:110837624T>G	ENST00000485303.1	+	3	899	c.624T>G	c.(622-624)ggT>ggG	p.G208G	PVRL3_ENST00000493615.1_Silent_p.G185G|PVRL3_ENST00000319792.3_Silent_p.G208G	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	208	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACTGGGAAGGTGATCTTGGTG	0.423																																						dbGAP											0													88.0	76.0	80.0					3																	110837624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.624T>G	3.37:g.110837624T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.G208	ENST00000485303.1	37	c.624	CCDS2957.1	3																																																																																			PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like	ENSG00000177707		0.423	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	157	0.00	0	T	NM_015480		110837624	110837624	+1	no_errors	ENST00000485303	ensembl	human	known	69_37n	silent	88	19.27	21	SNP	0.918	G
PYGO1	26108	genome.wustl.edu	37	15	55838498	55838498	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:55838498T>G	ENST00000302000.6	-	3	1077	c.983A>C	c.(982-984)cAc>cCc	p.H328P	PYGO1_ENST00000563719.1_Missense_Mutation_p.H328P	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	328					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ACGGTTTGGGTGAAGAGAGGA	0.473																																						dbGAP											0													281.0	265.0	271.0					15																	55838498		2193	4292	6485	-	-	-	SO:0001583	missense	0			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.983A>C	15.37:g.55838498T>G	ENSP00000302327:p.His328Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.H328P	ENST00000302000.6	37	c.983	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	T	5.221	0.226285	0.09916	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.42513	0.97	5.24	2.71	0.32032	Zinc finger, FYVE/PHD-type (1);	0.146500	0.47455	D	0.000240	T	0.20170	0.0485	N	0.08118	0	0.36531	D	0.870739	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08680	-1.0710	10	0.31617	T	0.26	-5.3057	7.8969	0.29712	0.1356:0.0:0.1415:0.7229	.	328;328	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	P	328	ENSP00000302327:H328P	ENSP00000302327:H328P	H	-	2	0	PYGO1	53625790	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.983000	0.29552	0.900000	0.36469	0.482000	0.46254	CAC	PYGO1	-	superfamily_Znf_FYVE_PHD	ENSG00000171016		0.473	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2	260	0.38	1	T	NM_015617		55838498	55838498	-1	no_errors	ENST00000302000	ensembl	human	known	69_37n	missense	291	14.87	51	SNP	1.000	G
QPCT	25797	genome.wustl.edu	37	2	37594515	37594515	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:37594515A>C	ENST00000338415.3	+	4	845	c.687A>C	c.(685-687)ccA>ccC	p.P229P	QPCT_ENST00000537448.1_Silent_p.P180P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	229					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CCCCGCACCCACCTGGAGCGA	0.522																																						dbGAP											0													71.0	67.0	68.0					2																	37594515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.687A>C	2.37:g.37594515A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16770|Q3KRG6|Q53TR4	Silent	SNP	pfam_Peptidase_M28	p.P229	ENST00000338415.3	37	c.687	CCDS1790.1	2																																																																																			QPCT	-	pfam_Peptidase_M28	ENSG00000115828		0.522	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCT	HGNC	protein_coding	OTTHUMT00000218572.2	152	0.65	1	A			37594515	37594515	+1	no_errors	ENST00000338415	ensembl	human	known	69_37n	silent	129	24.14	42	SNP	0.884	C
QSER1	79832	genome.wustl.edu	37	11	32953656	32953656	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:32953656A>C	ENST00000399302.2	+	4	800	c.465A>C	c.(463-465)gcA>gcC	p.A155A	QSER1_ENST00000527788.1_Silent_p.A155A	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	155	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGCCTTCAGCACTTGGGGGAT	0.438																																						dbGAP											0													135.0	129.0	131.0					11																	32953656		1915	4130	6045	-	-	-	SO:0001819	synonymous_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.465A>C	11.37:g.32953656A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Silent	SNP	NULL	p.A155	ENST00000399302.2	37	c.465	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.438	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	251	0.00	0	A	NM_024774		32953656	32953656	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	silent	265	10.47	31	SNP	0.988	C
QSOX1	5768	genome.wustl.edu	37	1	180153135	180153135	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:180153135A>C	ENST00000367602.3	+	7	911	c.837A>C	c.(835-837)gcA>gcC	p.A279A	QSOX1_ENST00000367600.5_Silent_p.A279A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	279					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACAGTTGCACCAACCACTG	0.537																																						dbGAP											0													208.0	187.0	194.0					1																	180153135		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.837A>C	1.37:g.180153135A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.A279	ENST00000367602.3	37	c.837	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.537	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	220	0.00	0	A	NM_002826		180153135	180153135	+1	no_errors	ENST00000367602	ensembl	human	known	69_37n	silent	226	15.19	41	SNP	0.000	C
QTRTD1	79691	genome.wustl.edu	37	3	113804546	113804546	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:113804546T>G	ENST00000493014.1	+	6	793	c.725T>G	c.(724-726)gTg>gGg	p.V242G	QTRTD1_ENST00000281273.4_Missense_Mutation_p.V348G|QTRTD1_ENST00000479882.1_Missense_Mutation_p.V225G|QTRTD1_ENST00000485050.1_Missense_Mutation_p.V360G	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						AACCCGCTGGTGAGAGGATGT	0.478																																						dbGAP											0													200.0	179.0	186.0					3																	113804546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.725T>G	3.37:g.113804546T>G	ENSP00000419169:p.Val242Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans	p.V348G	ENST00000493014.1	37	c.1043	CCDS58845.1	3	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621584	0.87460	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	6.06	6.06	0.98353	.	0.116625	0.64402	D	0.000017	T	0.78761	0.4334	M	0.76170	2.325	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.69824	0.966;0.943	T	0.79396	-0.1821	9	0.49607	T	0.09	-11.6128	16.6093	0.84858	0.0:0.0:0.0:1.0	.	242;348	B7Z472;Q9H974	.;QTRD1_HUMAN	G	360;348;225;242	.	ENSP00000281273:V348G	V	+	2	0	QTRTD1	115287236	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	5.618000	0.67722	2.324000	0.78689	0.533000	0.62120	GTG	QTRTD1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans	ENSG00000151576		0.478	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	HGNC	protein_coding	OTTHUMT00000354711.1	194	0.00	0	T	NM_024638		113804546	113804546	+1	no_errors	ENST00000281273	ensembl	human	known	69_37n	missense	142	16.47	28	SNP	1.000	G
RAB11FIP5	26056	genome.wustl.edu	37	2	73316382	73316382	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73316382T>G	ENST00000258098.6	-	2	733	c.493A>C	c.(493-495)Acc>Ccc	p.T165P	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	165					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AACTGGATGGTGACTTCAATC	0.547																																						dbGAP											0													336.0	323.0	327.0					2																	73316382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.493A>C	2.37:g.73316382T>G	ENSP00000258098:p.Thr165Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94939|Q9P0M1	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T165P	ENST00000258098.6	37	c.493	CCDS1923.1	2	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878814	0.51801	.	.	ENSG00000135631	ENST00000258098	T	0.29397	1.57	4.6	2.14	0.27477	C2 calcium/lipid-binding domain, CaLB (1);	0.296283	0.29684	N	0.011462	T	0.27629	0.0679	L	0.38175	1.15	0.31720	N	0.638393	D;D	0.57899	0.966;0.981	P;P	0.52267	0.543;0.694	T	0.23940	-1.0174	10	0.33940	T	0.23	-15.9164	4.3183	0.11003	0.3072:0.0858:0.0:0.607	.	165;165	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	P	165	ENSP00000258098:T165P	ENSP00000258098:T165P	T	-	1	0	RAB11FIP5	73169890	0.995000	0.38212	0.998000	0.56505	0.916000	0.54674	0.885000	0.28227	0.353000	0.24079	-0.379000	0.06801	ACC	RAB11FIP5	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000135631		0.547	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	147	0.00	0	T	NM_015470		73316382	73316382	-1	no_errors	ENST00000258098	ensembl	human	known	69_37n	missense	100	14.53	17	SNP	1.000	G
RAB11FIP5	26056	genome.wustl.edu	37	2	73316524	73316524	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73316524A>C	ENST00000258098.6	-	2	672				RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CACTGCCCAGACCCCTCCTTG	0.622																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.432-81T>G	2.37:g.73316524A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94939|Q9P0M1	RNA	SNP	-	NULL	ENST00000258098.6	37	NULL	CCDS1923.1	2																																																																																			RAB11FIP5	-	-	ENSG00000135631		0.622	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	72	0.00	0	A	NM_015470		73316524	73316524	-1	no_errors	ENST00000493523	ensembl	human	known	69_37n	rna	40	27.27	15	SNP	0.000	C
RAB11FIP5	26056	genome.wustl.edu	37	2	73316579	73316579	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:73316579A>C	ENST00000258098.6	-	2	672				RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTGCTCTGACCCATCGGCC	0.602																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.432-136T>G	2.37:g.73316579A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94939|Q9P0M1	RNA	SNP	-	NULL	ENST00000258098.6	37	NULL	CCDS1923.1	2																																																																																			RAB11FIP5	-	-	ENSG00000135631		0.602	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	46	0.00	0	A	NM_015470		73316579	73316579	-1	no_errors	ENST00000493523	ensembl	human	known	69_37n	rna	34	19.05	8	SNP	0.001	C
RAB1B	81876	genome.wustl.edu	37	11	66039668	66039668	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:66039668T>G	ENST00000311481.6	+	3	275	c.128T>G	c.(127-129)gTg>gGg	p.V43G	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Missense_Mutation_p.V43G	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	43					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ACCATCGGGGTGGACTTCAAG	0.502																																						dbGAP											0													211.0	200.0	204.0					11																	66039668		2200	4295	6495	-	-	-	SO:0001583	missense	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.128T>G	11.37:g.66039668T>G	ENSP00000310226:p.Val43Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7S1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V43G	ENST00000311481.6	37	c.128	CCDS31613.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418170	0.83449	.	.	ENSG00000174903	ENST00000311481;ENST00000527397;ENST00000314965;ENST00000394080	D;D	0.81659	-1.52;-1.52	3.99	3.99	0.46301	Small GTP-binding protein domain (1);	0.172556	0.37261	N	0.002179	D	0.89924	0.6856	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91125	0.4933	10	0.87932	D	0	.	10.8837	0.46955	0.0:0.0:0.0:1.0	.	43	Q9H0U4	RAB1B_HUMAN	G	43	ENSP00000310226:V43G;ENSP00000435195:V43G	ENSP00000310226:V43G	V	+	2	0	RAB1B	65796244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	1.680000	0.50976	0.459000	0.35465	GTG	RAB1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000174903		0.502	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1B	HGNC	protein_coding	OTTHUMT00000391886.2	268	0.37	1	T	NM_030981		66039668	66039668	+1	no_errors	ENST00000311481	ensembl	human	known	69_37n	missense	154	11.49	20	SNP	1.000	G
RAB38	23682	genome.wustl.edu	37	11	87883071	87883071	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:87883071A>C	ENST00000243662.6	-	2	337	c.255T>G	c.(253-255)ggT>ggG	p.G85G		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	85					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATAAATGCACCCATAGCTT	0.383																																						dbGAP											0													211.0	223.0	219.0					11																	87883071		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.255T>G	11.37:g.87883071A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XK7	Missense_Mutation	SNP	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.C84G	ENST00000243662.6	37	c.250	CCDS8281.1	11	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220489	0.22457	.	.	ENSG00000123892	ENST00000526372	.	.	.	5.22	-3.34	0.04943	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	4	.	.	.	-6.8259	0.8066	0.01085	0.1806:0.2742:0.1566:0.3886	.	.	.	.	G	84	.	.	C	-	1	0	RAB38	87522719	0.148000	0.22702	0.996000	0.52242	0.997000	0.91878	-0.452000	0.06787	-0.227000	0.09884	0.482000	0.46254	TGC	RAB38	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000123892		0.383	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB38	HGNC	protein_coding	OTTHUMT00000394015.2	655	0.15	1	A			87883071	87883071	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526372	ensembl	human	putative	69_37n	missense	424	10.69	51	SNP	0.624	C
RAB39B	116442	genome.wustl.edu	37	X	154490157	154490157	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:154490157A>C	ENST00000369454.3	-	2	873	c.573T>G	c.(571-573)agT>agG	p.S191R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	191					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTACAAATCCACTCTTCACCC	0.438																																						dbGAP											0													137.0	119.0	125.0					X																	154490157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.573T>G	X.37:g.154490157A>C	ENSP00000358466:p.Ser191Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT79|Q8NEX3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S191R	ENST00000369454.3	37	c.573	CCDS14766.1	X	.	.	.	.	.	.	.	.	.	.	A	16.90	3.251333	0.59212	.	.	ENSG00000155961	ENST00000369454	T	0.79845	-1.31	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	N	0.19112	0.55	0.53005	D	0.999962	D	0.56521	0.976	P	0.47864	0.559	T	0.66976	-0.5787	10	0.10636	T	0.68	.	12.0756	0.53641	1.0:0.0:0.0:0.0	.	191	Q96DA2	RB39B_HUMAN	R	191	ENSP00000358466:S191R	ENSP00000358466:S191R	S	-	3	2	RAB39B	154143351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.425000	0.34859	1.824000	0.53156	0.417000	0.27973	AGT	RAB39B	-	smart_Ran_GTPase	ENSG00000155961		0.438	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39B	HGNC	protein_coding	OTTHUMT00000058792.1	413	0.24	1	A	NM_171998		154490157	154490157	-1	no_errors	ENST00000369454	ensembl	human	known	69_37n	missense	312	12.57	45	SNP	1.000	C
RAB39B	116442	genome.wustl.edu	37	X	154490164	154490164	+	Missense_Mutation	SNP	A	A	C	rs112857743		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:154490164A>C	ENST00000369454.3	-	2	866	c.566T>G	c.(565-567)gTg>gGg	p.V189G		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	189					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCACTCTTCACCCCTTCCCA	0.433																																						dbGAP											0													132.0	114.0	120.0					X																	154490164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.566T>G	X.37:g.154490164A>C	ENSP00000358466:p.Val189Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT79|Q8NEX3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V189G	ENST00000369454.3	37	c.566	CCDS14766.1	X	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732333	0.69189	.	.	ENSG00000155961	ENST00000369454	T	0.80738	-1.41	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.82694	-0.0330	10	0.62326	D	0.03	.	12.0756	0.53641	1.0:0.0:0.0:0.0	.	189	Q96DA2	RB39B_HUMAN	G	189	ENSP00000358466:V189G	ENSP00000358466:V189G	V	-	2	0	RAB39B	154143358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.878000	0.92393	1.824000	0.53156	0.417000	0.27973	GTG	RAB39B	-	smart_Ran_GTPase	ENSG00000155961		0.433	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39B	HGNC	protein_coding	OTTHUMT00000058792.1	419	0.71	3	A	NM_171998		154490164	154490164	-1	no_errors	ENST00000369454	ensembl	human	known	69_37n	missense	287	21.31	78	SNP	1.000	C
RAB3GAP2	25782	genome.wustl.edu	37	1	220325057	220325057	+	Missense_Mutation	SNP	A	A	C	rs372782009		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:220325057A>C	ENST00000358951.2	-	34	4033	c.3917T>G	c.(3916-3918)gTg>gGg	p.V1306G		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1306					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCCCGTGAGCACCAGCAGCTG	0.507																																						dbGAP											0													108.0	106.0	106.0					1																	220325057		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3917T>G	1.37:g.220325057A>C	ENSP00000351832:p.Val1306Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.V1306G	ENST00000358951.2	37	c.3917	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237106	0.79800	.	.	ENSG00000118873	ENST00000358951	T	0.32515	1.45	5.83	5.83	0.93111	.	0.120739	0.56097	D	0.000035	T	0.30541	0.0768	L	0.29908	0.895	0.80722	D	1	P;P	0.46621	0.881;0.881	P;P	0.46885	0.53;0.53	T	0.02104	-1.1213	10	0.25751	T	0.34	.	16.214	0.82191	1.0:0.0:0.0:0.0	.	1306;1306	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	G	1306	ENSP00000351832:V1306G	ENSP00000351832:V1306G	V	-	2	0	RAB3GAP2	218391680	1.000000	0.71417	0.996000	0.52242	0.612000	0.37316	9.339000	0.96797	2.224000	0.72417	0.528000	0.53228	GTG	RAB3GAP2	-	NULL	ENSG00000118873		0.507	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	182	0.00	0	A	NM_012414		220325057	220325057	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	225	11.33	29	SNP	1.000	C
RAB9A	9367	genome.wustl.edu	37	X	13727289	13727289	+	Missense_Mutation	SNP	T	T	G	rs113761070		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:13727289T>G	ENST00000464506.1	+	3	703	c.424T>G	c.(424-426)Tgc>Ggc	p.C142G	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	142					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CCAAGCTTGGTGCAGGGACAA	0.473																																						dbGAP											0													102.0	102.0	102.0					X																	13727289		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.424T>G	X.37:g.13727289T>G	ENSP00000420127:p.Cys142Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K390|Q6ICN1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.C142G	ENST00000464506.1	37	c.424	CCDS14156.1	X	.	.	.	.	.	.	.	.	.	.	T	19.86	3.904740	0.72868	.	.	ENSG00000123595	ENST00000464506	T	0.76316	-1.01	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	M	0.73753	2.245	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.87625	0.2512	9	.	.	.	-6.3705	14.6311	0.68657	0.0:0.0:0.0:1.0	.	142	P51151	RAB9A_HUMAN	G	142	ENSP00000420127:C142G	.	C	+	1	0	RAB9A	13637210	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.492000	0.81482	1.836000	0.53414	0.481000	0.45027	TGC	RAB9A	-	pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123595		0.473	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9A	HGNC	protein_coding	OTTHUMT00000055802.1	221	0.90	2	T	NM_004251		13727289	13727289	+1	no_errors	ENST00000464506	ensembl	human	known	69_37n	missense	218	11.02	27	SNP	1.000	G
RABGAP1	23637	genome.wustl.edu	37	9	125752412	125752412	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:125752412A>C	ENST00000373647.4	+	6	977	c.843A>C	c.(841-843)gcA>gcC	p.A281A		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	281	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCACTGCTGCACCCCAGACTC	0.433																																						dbGAP											0													98.0	93.0	95.0					9																	125752412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.843A>C	9.37:g.125752412A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.A281	ENST00000373647.4	37	c.843	CCDS6848.2	9																																																																																			RABGAP1	-	NULL	ENSG00000011454		0.433	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	135	0.00	0	A	NM_012197		125752412	125752412	+1	no_errors	ENST00000373647	ensembl	human	known	69_37n	silent	76	23.23	23	SNP	1.000	C
RABGGTA	5875	genome.wustl.edu	37	14	24736020	24736020	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24736020T>G	ENST00000399409.3	-	14	1912	c.1429A>C	c.(1429-1431)Acc>Ccc	p.T477P	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000560777.1_Missense_Mutation_p.T86P|RABGGTA_ENST00000216840.6_Missense_Mutation_p.T477P	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	477					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGTGGCAGGGTTCGGAGGCGA	0.582																																						dbGAP											0													84.0	102.0	96.0					14																	24736020		2166	4276	6442	-	-	-	SO:0001583	missense	0				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1429A>C	14.37:g.24736020T>G	ENSP00000382341:p.Thr477Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N2|D3DS69	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a	p.T477P	ENST00000399409.3	37	c.1429	CCDS45088.1	14	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461318	0.43736	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.52057	0.68;0.68	5.69	-7.77	0.01227	.	1.038480	0.07555	N	0.916154	T	0.36635	0.0974	L	0.56199	1.76	0.09310	N	1	B	0.13594	0.008	B	0.26094	0.066	T	0.48399	-0.9039	10	0.51188	T	0.08	-1.2853	5.5065	0.16856	0.333:0.231:0.0:0.436	.	477	Q92696	PGTA_HUMAN	P	477	ENSP00000216840:T477P;ENSP00000382341:T477P	ENSP00000216840:T477P	T	-	1	0	RABGGTA	23805860	0.000000	0.05858	0.700000	0.30305	0.964000	0.63967	-1.298000	0.02756	-1.034000	0.03295	0.260000	0.18958	ACC	RABGGTA	-	pfam_Leu-rich_rpt	ENSG00000100949		0.582	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	26	0.00	0	T	NM_182836		24736020	24736020	-1	no_errors	ENST00000216840	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.017	G
RAD23B	5887	genome.wustl.edu	37	9	110068789	110068789	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:110068789A>C	ENST00000358015.3	+	4	709	c.358A>C	c.(358-360)Act>Cct	p.T120P	RAD23B_ENST00000416373.2_Missense_Mutation_p.T48P	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	120					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTTGGCCCCCACTTCCACACC	0.562								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													133.0	110.0	118.0					9																	110068789		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.358A>C	9.37:g.110068789A>C	ENSP00000350708:p.Thr120Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.T120P	ENST00000358015.3	37	c.358	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	A	6.495	0.459579	0.12342	.	.	ENSG00000119318	ENST00000419616;ENST00000358015;ENST00000374678;ENST00000416373	T;T;T	0.46451	0.87;2.18;2.16	5.22	-1.37	0.09056	.	0.702624	0.14991	N	0.286711	T	0.26376	0.0644	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13899	-1.0492	10	0.35671	T	0.21	-18.2957	7.0775	0.25213	0.4578:0.1294:0.4127:0.0	.	99;120;120	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	P	120;120;48;48	ENSP00000416868:T120P;ENSP00000350708:T120P;ENSP00000405623:T48P	ENSP00000350708:T120P	T	+	1	0	RAD23B	109108610	0.000000	0.05858	0.172000	0.22920	0.206000	0.24218	0.096000	0.15147	-0.392000	0.07751	-0.256000	0.11100	ACT	RAD23B	-	tigrfam_Rad23	ENSG00000119318		0.562	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	281	0.71	2	A	NM_002874		110068789	110068789	+1	no_errors	ENST00000358015	ensembl	human	known	69_37n	missense	189	18.45	43	SNP	0.011	C
RAD52	5893	genome.wustl.edu	37	12	1038983	1038983	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:1038983A>C	ENST00000358495.3	-	5	487		c.e5+1		RAD52_ENST00000539046.1_Splice_Site|RAD52_ENST00000430095.2_Splice_Site|RAD52_ENST00000545564.1_Splice_Site|RAD52_ENST00000536177.1_Splice_Site	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)						DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCATCCCCTCACCTTCAGCTG	0.547								Homologous recombination																														dbGAP											0													281.0	263.0	269.0					12																	1038983		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.348+1T>G	12.37:g.1038983A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Splice_Site	SNP	-	e4+2	ENST00000358495.3	37	c.348+2	CCDS8507.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.09|12.09	1.834398|1.834398	0.32421|0.32421	.|.	.|.	ENSG00000002016|ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177;ENST00000545564;ENST00000542785|ENST00000397230	.|T	.|0.42900	.|0.96	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54013	.|0.1832	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54801	.|-0.8239	.|6	.|0.46703	.|T	.|0.11	.|.	13.512|13.512	0.61517|0.61517	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|117	.|ENSP00000380407:V117G	.|ENSP00000380407:V117G	.|V	-|-	.|2	.|0	RAD52|RAD52	909244|909244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.096000|0.096000	0.18686|0.18686	6.826000|6.826000	0.75298|0.75298	2.093000|2.093000	0.63338|0.63338	0.379000|0.379000	0.24179|0.24179	.|GTG	RAD52	-	-	ENSG00000002016		0.547	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD52	HGNC	protein_coding	OTTHUMT00000206733.2	495	0.99	5	A	NM_134424	Intron	1038983	1038983	-1	no_errors	ENST00000358495	ensembl	human	known	69_37n	splice_site	392	15.09	70	SNP	1.000	C
RAD54L2	23132	genome.wustl.edu	37	3	51664815	51664815	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:51664815T>G	ENST00000409535.2	+	6	818	c.693T>G	c.(691-693)ggT>ggG	p.G231G	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	231						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AAGAGAAGGGTGGCACCCATG	0.517																																						dbGAP											0													120.0	101.0	108.0					3																	51664815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.693T>G	3.37:g.51664815T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W60G	ENST00000409535.2	37	c.178	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304758	0.23736	.	.	ENSG00000164080	ENST00000432863	.	.	.	5.8	2.12	0.27331	.	.	.	.	.	T	0.45316	0.1336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	-14.209	2.6941	0.05129	0.1154:0.137:0.135:0.6127	.	.	.	.	G	60	.	.	W	+	1	0	RAD54L2	51639855	0.449000	0.25689	1.000000	0.80357	0.986000	0.74619	-0.342000	0.07801	0.122000	0.18314	0.533000	0.62120	TGG	RAD54L2	-	NULL	ENSG00000164080		0.517	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	93	0.00	0	T	NM_015106		51664815	51664815	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000432863	ensembl	human	novel	69_37n	missense	73	23.96	23	SNP	0.997	G
RAG1	5896	genome.wustl.edu	37	11	36597190	36597190	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:36597190T>G	ENST00000299440.5	+	2	2448	c.2336T>G	c.(2335-2337)gTg>gGg	p.V779G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	779					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CGGGATCGGGTGAAAGGGGTC	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	dbGAP											0													82.0	79.0	80.0					11																	36597190		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2336T>G	11.37:g.36597190T>G	ENSP00000299440:p.Val779Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.V779G	ENST00000299440.5	37	c.2336	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831489	0.71258	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88664	-2.41;-2.41	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	H	0.96142	3.775	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	D	0.97562	1.0099	10	0.87932	D	0	.	16.7898	0.85586	0.0:0.0:0.0:1.0	.	779	P15918	RAG1_HUMAN	G	779	ENSP00000434610:V779G;ENSP00000299440:V779G	ENSP00000299440:V779G	V	+	2	0	RAG1	36553766	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.698000	0.84413	2.364000	0.80123	0.524000	0.50904	GTG	RAG1	-	NULL	ENSG00000166349		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	161	0.62	1	T	NM_000448		36597190	36597190	+1	no_errors	ENST00000299440	ensembl	human	known	69_37n	missense	193	11.47	25	SNP	1.000	G
RALBP1	10928	genome.wustl.edu	37	18	9525756	9525756	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:9525756T>G	ENST00000019317.4	+	6	1477	c.1254T>G	c.(1252-1254)ggT>ggG	p.G418G	RALBP1_ENST00000383432.3_Silent_p.G418G			Q15311	RBP1_HUMAN	ralA binding protein 1	418	Interacts with RalA.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	ATCTGCAGGGTGGGATAAAGG	0.363																																						dbGAP											0													161.0	156.0	157.0					18																	9525756		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1254T>G	18.37:g.9525756T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUI0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G418	ENST00000019317.4	37	c.1254	CCDS11845.1	18																																																																																			RALBP1	-	NULL	ENSG00000017797		0.363	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	134	0.00	0	T	NM_006788		9525756	9525756	+1	no_errors	ENST00000019317	ensembl	human	known	69_37n	silent	157	12.78	23	SNP	0.016	G
RALGAPA2	57186	genome.wustl.edu	37	20	20493865	20493865	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:20493865A>C	ENST00000202677.7	-	32	4155	c.4148T>G	c.(4147-4149)gTg>gGg	p.V1383G		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1383					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGGTGGTTCACCAGGTGGGC	0.537																																						dbGAP											0													34.0	34.0	34.0					20																	20493865		1925	4136	6061	-	-	-	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4148T>G	20.37:g.20493865A>C	ENSP00000202677:p.Val1383Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.V1383G	ENST00000202677.7	37	c.4148	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.532720|4.532720	0.85812|0.85812	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.41065|.	1.01|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76321|.	0.3971|.	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.91635|.	0.979;0.999;0.987|.	T|.	0.77305|.	-0.2637|.	9|.	.|.	.|.	.|.	.|.	16.0668|16.0668	0.80887|0.80887	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1221;1383;1383|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	G|G	1383|1200	ENSP00000202677:V1383G|.	.|.	V|X	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20441865|20441865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.221000|9.221000	0.95188|0.95188	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	GTG|TGA	RALGAPA2	-	NULL	ENSG00000188559		0.537	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	46	0.00	0	A	NM_020343		20493865	20493865	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	C
RANGAP1	5905	genome.wustl.edu	37	22	41657473	41657473	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:41657473T>G	ENST00000455915.2	-	5	2061	c.592A>C	c.(592-594)Act>Cct	p.T198P	RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.T198P|RANGAP1_ENST00000356244.3_Missense_Mutation_p.T198P			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	198					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCAAGGCAGTGGCGCCATCA	0.562																																						dbGAP											0													107.0	102.0	104.0					22																	41657473		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.592A>C	22.37:g.41657473T>G	ENSP00000401470:p.Thr198Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JJ2	Missense_Mutation	SNP	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.T198P	ENST00000455915.2	37	c.592	CCDS14012.1	22	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397107	0.42512	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915	T;T;T	0.53640	0.61;0.61;0.61	5.6	5.6	0.85130	.	0.043663	0.85682	D	0.000000	T	0.45397	0.1340	L	0.53249	1.67	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31110	-0.9955	10	0.33940	T	0.23	-18.2156	15.7935	0.78388	0.0:0.0:0.0:1.0	.	198	P46060	RAGP1_HUMAN	P	198	ENSP00000385866:T198P;ENSP00000348577:T198P;ENSP00000401470:T198P	ENSP00000348577:T198P	T	-	1	0	RANGAP1	39987419	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.344000	0.52174	2.125000	0.65367	0.533000	0.62120	ACT	RANGAP1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000100401		0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	HGNC	protein_coding	OTTHUMT00000320606.1	41	0.00	0	T	NM_002883		41657473	41657473	-1	no_errors	ENST00000356244	ensembl	human	known	69_37n	missense	38	20.41	10	SNP	1.000	G
RAPGEF2	9693	genome.wustl.edu	37	4	160235763	160235763	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:160235763T>G	ENST00000264431.4	+	3	632	c.213T>G	c.(211-213)ggT>ggG	p.G71G	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	71					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCGAGGCTGGTGATATGGACC	0.448																																						dbGAP											0													95.0	95.0	95.0					4																	160235763		1997	4184	6181	-	-	-	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.213T>G	4.37:g.160235763T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G71	ENST00000264431.4	37	c.213	CCDS43277.1	4																																																																																			RAPGEF2	-	NULL	ENSG00000109756		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	122	0.00	0	T	NM_014247		160235763	160235763	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	silent	55	24.66	18	SNP	1.000	G
RARRES3	5920	genome.wustl.edu	37	11	63313622	63313622	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:63313622T>G	ENST00000255688.3	+	4	437	c.389T>G	c.(388-390)gTg>gGg	p.V130G	RARRES3_ENST00000354445.2_Splice_Site_p.V130G|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	130					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTTGCAGGTGGAAAAGGCC	0.542																																						dbGAP											0													198.0	222.0	214.0					11																	63313622		2045	4176	6221	-	-	-	SO:0001630	splice_region_variant	0				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.388-1T>G	11.37:g.63313622T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.V130G	ENST00000255688.3	37	c.389	CCDS41662.1	11	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923188	0.52653	.	.	ENSG00000133321	ENST00000255688;ENST00000354445	T;T	0.38077	1.18;1.16	2.41	-3.77	0.04346	NC (1);	65.690600	0.00166	U	0.000015	T	0.17746	0.0426	N	0.08118	0	0.19945	N	0.999945	P	0.39809	0.689	B	0.36378	0.223	T	0.12915	-1.0529	10	0.87932	D	0	.	4.1267	0.10131	0.0:0.4033:0.2024:0.3942	.	130	Q9UL19	TIG3_HUMAN	G	130	ENSP00000255688:V130G;ENSP00000346431:V130G	ENSP00000255688:V130G	V	+	2	0	RARRES3	63070198	0.140000	0.22579	0.003000	0.11579	0.537000	0.34900	-0.138000	0.10374	-0.896000	0.03915	0.482000	0.46254	GTG	RARRES3	-	pfam_LRAT-like_dom	ENSG00000133321		0.542	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARRES3	HGNC	protein_coding	OTTHUMT00000396629.1	137	0.72	1	T		Missense_Mutation	63313622	63313622	+1	no_errors	ENST00000255688	ensembl	human	known	69_37n	missense	120	12.32	17	SNP	0.020	G
RASAL2	9462	genome.wustl.edu	37	1	178421769	178421769	+	Missense_Mutation	SNP	A	A	C	rs200426107		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:178421769A>C	ENST00000462775.1	+	9	1672	c.1547A>C	c.(1546-1548)aAc>aCc	p.N516T	RASAL2_ENST00000367649.3_Missense_Mutation_p.N664T|RASAL2_ENST00000448150.3_Missense_Mutation_p.N646T	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	516	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTCATTCAGAACCTGGCCAAC	0.433																																						dbGAP											0													121.0	110.0	114.0					1																	178421769		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1547A>C	1.37:g.178421769A>C	ENSP00000420558:p.Asn516Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.N664T	ENST00000462775.1	37	c.1991	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.98|16.98	3.271942|3.271942	0.59649|0.59649	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.81415	.|-1.49;-1.49;-1.49	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85898|0.85898	0.5804|0.5804	L|L	0.50847|0.50847	1.595|1.595	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.968;0.997	.|D;P;D	.|0.87578	.|0.998;0.855;0.994	D|D	0.83580|0.83580	0.0117|0.0117	5|10	.|0.24483	.|T	.|0.36	.|.	14.9905|14.9905	0.71384|0.71384	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|646;516;664	.|B1AKC7;Q9UJF2;F8W755	.|.;NGAP_HUMAN;.	D|T	66|646;664;516	.|ENSP00000407768:N646T;ENSP00000356621:N664T;ENSP00000420558:N516T	.|ENSP00000356621:N664T	E|N	+|+	3|2	2|0	RASAL2|RASAL2	176688392|176688392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.210000|9.210000	0.95106|0.95106	1.929000|1.929000	0.55896|0.55896	0.455000|0.455000	0.32223|0.32223	GAA|AAC	RASAL2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000075391		0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	196	0.51	1	A	NM_170692		178421769	178421769	+1	no_errors	ENST00000367649	ensembl	human	known	69_37n	missense	249	10.75	30	SNP	1.000	C
RASAL2	9462	genome.wustl.edu	37	1	178427487	178427487	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:178427487T>G	ENST00000462775.1	+	12	2762	c.2637T>G	c.(2635-2637)ggT>ggG	p.G879G	RASAL2_ENST00000367649.3_Silent_p.G1020G|RASAL2_ENST00000448150.3_Silent_p.G1009G	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	879					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTGGGTTAGGTGCCCGAGCCA	0.597																																						dbGAP											0													57.0	57.0	57.0					1																	178427487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2637T>G	1.37:g.178427487T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_PP1_inhibitor,smart_RasGAP,pfscan_RasGAP	p.C430G	ENST00000462775.1	37	c.1288	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	T	7.004	0.555414	0.13436	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.46	0.497	0.16902	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43163	-0.9408	4	.	.	.	.	7.0397	0.25013	0.0:0.3467:0.221:0.4323	.	.	.	.	G	430	.	.	C	+	1	0	RASAL2	176694110	0.072000	0.21174	0.997000	0.53966	0.997000	0.91878	-0.799000	0.04560	0.068000	0.16574	0.482000	0.46254	TGC	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.597	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	122	0.00	0	T	NM_170692		178427487	178427487	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433130	ensembl	human	putative	69_37n	missense	137	12.74	20	SNP	0.984	G
RASEF	158158	genome.wustl.edu	37	9	85615090	85615090	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:85615090T>G	ENST00000376447.3	-	12	1977	c.1717A>C	c.(1717-1719)Acc>Ccc	p.T573P		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	573					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATACCCAGGGTGGCGCTTATA	0.433																																						dbGAP											0													102.0	101.0	102.0					9																	85615090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1717A>C	9.37:g.85615090T>G	ENSP00000365630:p.Thr573Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T573P	ENST00000376447.3	37	c.1717	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544696	0.86022	.	.	ENSG00000165105	ENST00000376447	D	0.88046	-2.33	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.053624	0.64402	D	0.000001	D	0.94460	0.8217	H	0.94423	3.535	0.80722	D	1	D	0.60160	0.987	P	0.57502	0.822	D	0.95710	0.8757	10	0.87932	D	0	.	16.2619	0.82550	0.0:0.0:0.0:1.0	.	573	Q8IZ41	RASEF_HUMAN	P	573	ENSP00000365630:T573P	ENSP00000365630:T573P	T	-	1	0	RASEF	84804910	1.000000	0.71417	0.973000	0.42090	0.693000	0.40251	7.612000	0.82975	2.317000	0.78254	0.460000	0.39030	ACC	RASEF	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000165105		0.433	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	256	0.00	0	T	NM_152573		85615090	85615090	-1	no_errors	ENST00000376447	ensembl	human	known	69_37n	missense	125	12.59	18	SNP	1.000	G
RASGRF1	5923	genome.wustl.edu	37	15	79277491	79277491	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:79277491A>C	ENST00000419573.3	-	24	3594	c.3320T>G	c.(3319-3321)gTg>gGg	p.V1107G	RASGRF1_ENST00000558480.2_Missense_Mutation_p.V1091G|RASGRF1_ENST00000560334.1_5'UTR|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000394745.3_Missense_Mutation_p.V323G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1107	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGGCGCTCACCCTGGCGTT	0.498																																						dbGAP											0													158.0	128.0	138.0					15																	79277491		2196	4293	6489	-	-	-	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3320T>G	15.37:g.79277491A>C	ENSP00000405963:p.Val1107Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V1107G	ENST00000419573.3	37	c.3320	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627621	0.28978	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.32753	1.44;1.44	4.55	-0.382	0.12481	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.149872	0.44483	D	0.000459	T	0.28863	0.0716	M	0.72624	2.21	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.15484	0.013;0.008;0.005	T	0.08785	-1.0705	10	0.59425	D	0.04	.	8.0415	0.30523	0.6293:0.0:0.3707:0.0	.	1091;1109;1091	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	G	1107;1091;323	ENSP00000405963:V1107G;ENSP00000378228:V323G	ENSP00000378224:V1091G	V	-	2	0	RASGRF1	77064546	0.040000	0.19996	0.971000	0.41717	0.558000	0.35554	0.601000	0.24119	-0.163000	0.10946	-0.290000	0.09829	GTG	RASGRF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000058335		0.498	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	49	0.00	0	A	NM_002891		79277491	79277491	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.996	C
RASL11A	387496	genome.wustl.edu	37	13	27847306	27847306	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:27847306A>C	ENST00000241463.4	+	4	1022	c.404A>C	c.(403-405)cAc>cCc	p.H135P	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CGGAAGGTCCACCCTGACTCT	0.552																																						dbGAP											0													111.0	88.0	96.0					13																	27847306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.404A>C	13.37:g.27847306A>C	ENSP00000241463:p.His135Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H135P	ENST00000241463.4	37	c.404	CCDS9321.1	13	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482675	0.63962	.	.	ENSG00000122035	ENST00000241463	T	0.76578	-1.03	5.67	3.19	0.36642	Small GTP-binding protein domain (1);	0.046965	0.85682	D	0.000000	D	0.85500	0.5711	M	0.84326	2.69	0.53688	D	0.999977	D	0.60160	0.987	D	0.70227	0.968	T	0.83214	-0.0072	10	0.72032	D	0.01	.	5.6369	0.17542	0.7337:0.0:0.1389:0.1274	.	135	Q6T310	RSLBA_HUMAN	P	135	ENSP00000241463:H135P	ENSP00000241463:H135P	H	+	2	0	RASL11A	26745306	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	5.864000	0.69575	0.404000	0.25506	0.533000	0.62120	CAC	RASL11A	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000122035		0.552	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11A	HGNC	protein_coding	OTTHUMT00000044265.2	80	0.00	0	A	NM_206827		27847306	27847306	+1	no_errors	ENST00000241463	ensembl	human	known	69_37n	missense	46	24.59	15	SNP	1.000	C
RBFOX1	54715	genome.wustl.edu	37	16	7383056	7383056	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:7383056A>C	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000355637.4_Silent_p.V18V|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.V18V|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.V18V|RBFOX1_ENST00000340209.4_Silent_p.V3V|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTATGATTGTACCGGCAGCTC	0.463																																					Ovarian(157;934 2567 15163 39509)	dbGAP											0													198.0	160.0	173.0					16																	7383056		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185093A>C	16.37:g.7383056A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.V18	ENST00000550418.1	37	c.54	CCDS55983.1	16																																																																																			RBFOX1	-	NULL	ENSG00000078328		0.463	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	282	0.70	2	A	NM_145891		7383056	7383056	+1	no_errors	ENST00000311745	ensembl	human	known	69_37n	silent	220	12.00	30	SNP	0.030	C
RBFOX1	54715	genome.wustl.edu	37	16	7383070	7383070	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:7383070A>C	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Y23S|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Y23S|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.Y23S|RBFOX1_ENST00000340209.4_Missense_Mutation_p.Y8S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCAGCTCCTTACCTTCCTGGA	0.463																																					Ovarian(157;934 2567 15163 39509)	dbGAP											0													162.0	131.0	142.0					16																	7383070		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185079A>C	16.37:g.7383070A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.Y23S	ENST00000550418.1	37	c.68	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	A	5.107	0.205304	0.09704	.	.	ENSG00000078328	ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T	0.28069	1.71;1.91;1.89;1.63	5.75	3.43	0.39272	.	0.605809	0.13826	N	0.360047	T	0.31482	0.0798	N	0.08118	0	0.30053	N	0.811563	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.21245	-1.0251	10	0.23302	T	0.38	1.7655	10.5974	0.45347	0.7496:0.0:0.0:0.2504	.	23;23;23;23	F8WAC5;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5	.;.;.;.	S	23;23;23;23;8	ENSP00000402745:Y23S;ENSP00000309117:Y23S;ENSP00000347855:Y23S;ENSP00000344196:Y8S	ENSP00000309117:Y23S	Y	+	2	0	RBFOX1	7323071	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	2.945000	0.49043	0.387000	0.25024	0.528000	0.53228	TAC	RBFOX1	-	pirsf_RNA-bd_Fox-1	ENSG00000078328		0.463	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	241	0.41	1	A	NM_145891		7383070	7383070	+1	no_errors	ENST00000311745	ensembl	human	known	69_37n	missense	184	14.61	32	SNP	1.000	C
RBBP6	5930	genome.wustl.edu	37	16	24578776	24578776	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:24578776A>C	ENST00000319715.4	+	15	2334	c.1902A>C	c.(1900-1902)ccA>ccC	p.P634P	RBBP6_ENST00000348022.2_Silent_p.P634P|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	634					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACAAGCACCACCTTTGTCCA	0.398																																						dbGAP											0													142.0	145.0	144.0					16																	24578776		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1902A>C	16.37:g.24578776A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.P634	ENST00000319715.4	37	c.1902	CCDS10621.1	16																																																																																			RBBP6	-	NULL	ENSG00000122257		0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	276	0.36	1	A	NM_006910		24578776	24578776	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	silent	262	19.21	63	SNP	0.998	C
RBM12	10137	genome.wustl.edu	37	20	34242528	34242528	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:34242528T>G	ENST00000374114.3	-	3	980	c.717A>C	c.(715-717)ccA>ccC	p.P239P	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Silent_p.P239P|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Silent_p.P239P	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	239	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCGACATGGGTGGCAGTGGGG	0.567																																						dbGAP											0													74.0	71.0	72.0					20																	34242528		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.717A>C	20.37:g.34242528T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P239	ENST00000374114.3	37	c.717	CCDS13261.1	20																																																																																			RBM12	-	NULL	ENSG00000244462		0.567	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	83	0.00	0	T	NM_006047		34242528	34242528	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	silent	75	24.24	24	SNP	1.000	G
RBM12B	389677	genome.wustl.edu	37	8	94746032	94746032	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:94746032A>C	ENST00000399300.2	-	3	2820	c.2607T>G	c.(2605-2607)ggT>ggG	p.G869G	RBM12B_ENST00000517700.1_Silent_p.G749G|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	869							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TAAAATCCTCACCAGGAGGTC	0.493																																						dbGAP											0													106.0	109.0	108.0					8																	94746032		1808	4075	5883	-	-	-	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2607T>G	8.37:g.94746032A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G869	ENST00000399300.2	37	c.2607	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.493	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	293	0.00	0	A	NM_203390		94746032	94746032	-1	no_errors	ENST00000399300	ensembl	human	known	69_37n	silent	226	11.67	30	SNP	0.999	C
RBM12B	389677	genome.wustl.edu	37	8	94746437	94746437	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:94746437T>G	ENST00000399300.2	-	3	2415	c.2202A>C	c.(2200-2202)ccA>ccC	p.P734P	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	734							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCTGGGGGTGGCCGACGGA	0.652																																						dbGAP											0													76.0	82.0	80.0					8																	94746437		1877	4101	5978	-	-	-	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2202A>C	8.37:g.94746437T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P734	ENST00000399300.2	37	c.2202	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.652	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	129	0.00	0	T	NM_203390		94746437	94746437	-1	no_errors	ENST00000399300	ensembl	human	known	69_37n	silent	117	15.60	22	SNP	0.009	G
RBM12B	389677	genome.wustl.edu	37	8	94746461	94746461	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:94746461T>G	ENST00000399300.2	-	3	2391	c.2178A>C	c.(2176-2178)ccA>ccC	p.P726P	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	726							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCCTGAGGTGGCCTCCGGA	0.642																																						dbGAP											0													88.0	94.0	92.0					8																	94746461		1879	4109	5988	-	-	-	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2178A>C	8.37:g.94746461T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P726	ENST00000399300.2	37	c.2178	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	155	0.00	0	T	NM_203390		94746461	94746461	-1	no_errors	ENST00000399300	ensembl	human	known	69_37n	silent	132	17.90	29	SNP	0.868	G
RBM28	55131	genome.wustl.edu	37	7	127954895	127954895	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:127954895A>C	ENST00000223073.2	-	17	2081	c.1967T>G	c.(1966-1968)gTg>gGg	p.V656G	RBM28_ENST00000415472.2_Missense_Mutation_p.V515G|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	656					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CACCTGCTCCACTTCAGCCTT	0.582																																						dbGAP											0													176.0	174.0	175.0					7																	127954895		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1967T>G	7.37:g.127954895A>C	ENSP00000223073:p.Val656Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V656G	ENST00000223073.2	37	c.1967	CCDS5801.1	7	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221490	0.79464	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.20881	3.0;2.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.983;0.999;0.992	P;D;P	0.78314	0.762;0.991;0.847	T	0.21827	-1.0234	10	0.23891	T	0.37	-18.2479	9.1593	0.37012	0.9203:0.0:0.0797:0.0	.	515;656;515	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	G	656;515	ENSP00000223073:V656G;ENSP00000390517:V515G	ENSP00000223073:V656G	V	-	2	0	RBM28	127742131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.547000	0.67249	2.371000	0.80710	0.533000	0.62120	GTG	RBM28	-	NULL	ENSG00000106344		0.582	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	HGNC	protein_coding	OTTHUMT00000349442.2	342	0.29	1	A	NM_018077		127954895	127954895	-1	no_errors	ENST00000223073	ensembl	human	known	69_37n	missense	305	10.00	34	SNP	1.000	C
RBM28	55131	genome.wustl.edu	37	7	127964642	127964642	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:127964642T>G	ENST00000223073.2	-	12	1423	c.1309A>C	c.(1309-1311)Acc>Ccc	p.T437P	RBM28_ENST00000415472.2_Missense_Mutation_p.T296P	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	437					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGATTCCGGGTGCCAGTCGGC	0.537																																						dbGAP											0													150.0	147.0	148.0					7																	127964642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1309A>C	7.37:g.127964642T>G	ENSP00000223073:p.Thr437Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T437P	ENST00000223073.2	37	c.1309	CCDS5801.1	7	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178181	0.78564	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.20200	3.06;2.09	5.63	5.63	0.86233	.	0.110769	0.64402	D	0.000008	T	0.33381	0.0861	L	0.31207	0.915	0.48087	D	0.99958	B;D;B	0.76494	0.077;0.999;0.077	B;D;B	0.78314	0.053;0.991;0.053	T	0.05869	-1.0859	10	0.59425	D	0.04	-13.3043	12.5296	0.56106	0.0:0.0:0.0:1.0	.	296;437;296	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	P	437;296	ENSP00000223073:T437P;ENSP00000390517:T296P	ENSP00000223073:T437P	T	-	1	0	RBM28	127751878	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	2.281000	0.76405	0.533000	0.62120	ACC	RBM28	-	NULL	ENSG00000106344		0.537	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	HGNC	protein_coding	OTTHUMT00000349442.2	363	0.00	0	T	NM_018077		127964642	127964642	-1	no_errors	ENST00000223073	ensembl	human	known	69_37n	missense	291	11.71	39	SNP	1.000	G
RBM41	55285	genome.wustl.edu	37	X	106312494	106312494	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:106312494T>G	ENST00000372479.3	-	6	1096	c.1066A>C	c.(1066-1068)Acc>Ccc	p.T356P	RBM41_ENST00000372487.1_Missense_Mutation_p.T356P	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	356	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTGGGAAAGGTGATAAAAGCC	0.423																																						dbGAP											0													139.0	124.0	129.0					X																	106312494		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1066A>C	X.37:g.106312494T>G	ENSP00000361557:p.Thr356Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T356P	ENST00000372479.3	37	c.1066	CCDS14526.1	X	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678113	0.68042	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.18502	2.21;2.21	5.83	5.83	0.93111	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.69194	-0.5209	10	0.87932	D	0	.	11.3375	0.49513	0.0:0.0:0.0:1.0	.	356	Q96IZ5	RBM41_HUMAN	P	356	ENSP00000361565:T356P;ENSP00000361557:T356P	ENSP00000361557:T356P	T	-	1	0	RBM41	106199150	1.000000	0.71417	0.997000	0.53966	0.659000	0.38960	6.005000	0.70716	1.949000	0.56562	0.486000	0.48141	ACC	RBM41	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000089682		0.423	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	HGNC	protein_coding	OTTHUMT00000057819.1	217	0.46	1	T	NM_018301		106312494	106312494	-1	no_errors	ENST00000372479	ensembl	human	known	69_37n	missense	248	18.09	55	SNP	1.000	G
RBM6	10180	genome.wustl.edu	37	3	50004934	50004934	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:50004934T>G	ENST00000266022.4	+	3	335	c.76T>G	c.(76-78)Tgg>Ggg	p.W26G	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	26					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGCTCCCGGGTGGAACAGGGA	0.458																																						dbGAP											0													102.0	107.0	105.0					3																	50004934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.76T>G	3.37:g.50004934T>G	ENSP00000266022:p.Trp26Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.W26G	ENST00000266022.4	37	c.76	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614054	0.46631	.	.	ENSG00000004534	ENST00000266022;ENST00000416583;ENST00000433811	T	0.51817	0.69	5.94	5.94	0.96194	.	0.412951	0.25078	N	0.033308	T	0.48132	0.1483	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.51434	-0.8706	9	.	.	.	-7.8961	14.9658	0.71193	0.0:0.0:0.0:1.0	.	26	P78332	RBM6_HUMAN	G	26	ENSP00000266022:W26G	.	W	+	1	0	RBM6	49979938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.592000	0.53993	2.272000	0.75746	0.459000	0.35465	TGG	RBM6	-	NULL	ENSG00000004534		0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	139	0.00	0	T	NM_005777		50004934	50004934	+1	no_errors	ENST00000266022	ensembl	human	known	69_37n	missense	134	15.72	25	SNP	1.000	G
RBMS1	5937	genome.wustl.edu	37	2	161141319	161141319	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:161141319T>G	ENST00000348849.3	-	9	1297	c.867A>C	c.(865-867)acA>acC	p.T289T	RBMS1_ENST00000409972.1_Silent_p.T253T|RBMS1_ENST00000392753.3_Silent_p.T286T|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.T253T|RBMS1_ENST00000409075.1_Silent_p.T253T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	289					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								CAATATAGGGTGTAATAGAAG	0.368																																						dbGAP											0													168.0	169.0	169.0					2																	161141319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.867A>C	2.37:g.161141319T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.T286	ENST00000348849.3	37	c.858	CCDS2213.1	2																																																																																			RBMS1	-	NULL	ENSG00000153250		0.368	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	146	0.00	0	T	NM_016836		161141319	161141319	-1	no_errors	ENST00000392753	ensembl	human	known	69_37n	silent	83	17.82	18	SNP	1.000	G
RBMXL1	494115	genome.wustl.edu	37	1	89449114	89449114	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:89449114A>C	ENST00000321792.5	-	2	823	c.396T>G	c.(394-396)ggT>ggG	p.G132G	RBMXL1_ENST00000399794.2_Silent_p.G132G|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	132					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGGAATATCCACCATCATCCA	0.507																																						dbGAP											0													129.0	137.0	134.0					1																	89449114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.396T>G	1.37:g.89449114A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G132	ENST00000321792.5	37	c.396	CCDS716.1	1																																																																																			RBMXL1	-	NULL	ENSG00000213516		0.507	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	163	0.61	1	A	NM_019610		89449114	89449114	-1	no_errors	ENST00000321792	ensembl	human	known	69_37n	silent	117	14.60	20	SNP	0.500	C
RCN3	57333	genome.wustl.edu	37	19	50031833	50031833	+	Missense_Mutation	SNP	A	A	C	rs545542861		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:50031833A>C	ENST00000270645.3	+	2	551	c.104A>C	c.(103-105)cAc>cCc	p.H35P	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	35						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GGGAGGGTGCACCAGGCGGCC	0.642																																						dbGAP											0													70.0	74.0	73.0					19																	50031833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.104A>C	19.37:g.50031833A>C	ENSP00000270645:p.His35Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBZ8	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.H35P	ENST00000270645.3	37	c.104	CCDS12771.1	19	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991728	0.54041	.	.	ENSG00000142552	ENST00000270645	T	0.10192	2.9	4.75	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	M	0.76002	2.32	0.52501	D	0.999953	D	0.56968	0.978	P	0.49140	0.601	T	0.01390	-1.1367	10	0.33940	T	0.23	-45.1437	7.8056	0.29200	0.9019:0.0:0.098:0.0	.	35	Q96D15	RCN3_HUMAN	P	35	ENSP00000270645:H35P	ENSP00000270645:H35P	H	+	2	0	RCN3	54723645	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.254000	0.51477	1.935000	0.56089	0.374000	0.22700	CAC	RCN3	-	NULL	ENSG00000142552		0.642	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN3	HGNC	protein_coding	OTTHUMT00000465261.1	129	0.76	1	A	NM_020650		50031833	50031833	+1	no_errors	ENST00000270645	ensembl	human	known	69_37n	missense	72	23.71	23	SNP	1.000	C
RDX	5962	genome.wustl.edu	37	11	110128533	110128533	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:110128533A>C	ENST00000343115.4	-	7	976	c.657T>G	c.(655-657)ggT>ggG	p.G219G	RDX_ENST00000405097.1_Silent_p.G219G|RDX_ENST00000544551.1_Silent_p.G83G|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Silent_p.G219G	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	219	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AAGCATCAACACCTAGCCACA	0.328																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	dbGAP											0													131.0	130.0	131.0					11																	110128533		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.657T>G	11.37:g.110128533A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.G219	ENST00000343115.4	37	c.657	CCDS8343.1	11																																																																																			RDX	-	pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin,pfscan_FERM_domain	ENSG00000137710		0.328	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	120	0.00	0	A	NM_002906		110128533	110128533	-1	no_errors	ENST00000530749	ensembl	human	known	69_37n	silent	93	29.01	38	SNP	0.104	C
REL	5966	genome.wustl.edu	37	2	61149060	61149060	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:61149060A>C	ENST00000295025.8	+	11	1570	c.1250A>C	c.(1249-1251)cAc>cCc	p.H417P	REL_ENST00000394479.3_Missense_Mutation_p.H385P	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	417					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCAGTGGCCCACCCCACCCCA	0.507			A		Hodgkin Lymphoma																																	dbGAP		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													99.0	94.0	95.0					2																	61149060		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1250A>C	2.37:g.61149060A>C	ENSP00000295025:p.His417Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.H417P	ENST00000295025.8	37	c.1250	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	A	1.310	-0.602378	0.03744	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.45668	0.89;0.93	5.01	-1.46	0.08800	.	1.498800	0.03972	N	0.291837	T	0.24774	0.0601	L	0.29908	0.895	0.09310	N	1	B;P	0.34909	0.229;0.475	B;B	0.31614	0.063;0.133	T	0.11203	-1.0597	10	0.27082	T	0.32	-48.7149	0.8458	0.01161	0.4829:0.1335:0.1938:0.1899	.	385;417	Q17RU2;Q04864	.;REL_HUMAN	P	417;385	ENSP00000295025:H417P;ENSP00000377989:H385P	ENSP00000295025:H417P	H	+	2	0	REL	61002564	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.100000	0.10990	0.016000	0.14998	-0.446000	0.05623	CAC	REL	-	NULL	ENSG00000162924		0.507	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	215	0.46	1	A	NM_002908		61149060	61149060	+1	no_errors	ENST00000295025	ensembl	human	known	69_37n	missense	168	13.40	26	SNP	0.000	C
REG1P	5969	genome.wustl.edu	37	2	79363855	79363855	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:79363855T>G	ENST00000444841.1	-	0	483									regenerating islet-derived 1 pseudogene																		ATGCTTGAGGTGCCAGACATC	0.423																																						dbGAP											0																																										-	-	-			0					2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79363855T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000444841.1	37	NULL		2																																																																																			REG1P	-	-	ENSG00000204787		0.423	REG1P-002	KNOWN	basic	processed_transcript	REG1P	HGNC	pseudogene	OTTHUMT00000328851.1	39	0.00	0	T	NR_002714		79363855	79363855	-1	no_errors	ENST00000377435	ensembl	human	known	69_37n	rna	39	11.11	5	SNP	0.000	G
RELN	5649	genome.wustl.edu	37	7	103557593	103557593	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:103557593A>C	ENST00000428762.1	-	2	425	c.266T>G	c.(265-267)gTg>gGg	p.V89G	RELN_ENST00000343529.5_Missense_Mutation_p.V89G|RELN_ENST00000424685.2_Missense_Mutation_p.V89G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	89	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGTCCTGTCACCAGCAAGCC	0.373																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													126.0	126.0	126.0					7																	103557593		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.266T>G	7.37:g.103557593A>C	ENSP00000392423:p.Val89Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.V89G	ENST00000428762.1	37	c.266	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077038	0.55753	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.48	5.48	0.80851	Reeler domain (2);	0.000000	0.64402	D	0.000005	T	0.31606	0.0802	N	0.08118	0	0.80722	D	1	D;D	0.59357	0.981;0.985	D;D	0.73708	0.967;0.981	T	0.41520	-0.9504	10	0.66056	D	0.02	.	15.2384	0.73450	1.0:0.0:0.0:0.0	.	89;89	P78509-2;P78509	.;RELN_HUMAN	G	89	ENSP00000392423:V89G;ENSP00000345694:V89G;ENSP00000388446:V89G	ENSP00000345694:V89G	V	-	2	0	RELN	103344829	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.114000	0.71560	2.084000	0.62774	0.528000	0.53228	GTG	RELN	-	pfam_Reeler_dom,pfscan_Reeler_dom	ENSG00000189056		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	205	0.00	0	A	NM_005045		103557593	103557593	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	150	11.18	19	SNP	1.000	C
RERE	473	genome.wustl.edu	37	1	8421932	8421932	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:8421932A>C	ENST00000337907.3	-	18	2541	c.1907T>G	c.(1906-1908)gTg>gGg	p.V636G	RERE_ENST00000476556.1_Missense_Mutation_p.V82G|RERE_ENST00000400908.2_Missense_Mutation_p.V636G|RERE_ENST00000377464.1_Missense_Mutation_p.V368G|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	636					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCCTCCTTCACCTTCTGCAG	0.552																																						dbGAP											0													61.0	61.0	61.0					1																	8421932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1907T>G	1.37:g.8421932A>C	ENSP00000338629:p.Val636Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.V636G	ENST00000337907.3	37	c.1907	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333935	0.24253	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.44	4.31	0.51392	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.58432	D	0.999995	B;B	0.32653	0.379;0.085	B;B	0.28553	0.089;0.091	T	0.51911	-0.8645	9	0.21540	T	0.41	-16.7254	10.6251	0.45502	0.9243:0.0:0.0757:0.0	.	368;636	B1AKN3;Q9P2R6	.;RERE_HUMAN	G	636;368;82;636;56	ENSP00000338629:V636G;ENSP00000366684:V368G;ENSP00000422246:V82G;ENSP00000383700:V636G	ENSP00000338629:V636G	V	-	2	0	RERE	8344519	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	5.292000	0.65673	0.909000	0.36697	-0.441000	0.05720	GTG	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.552	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	37	0.00	0	A			8421932	8421932	-1	no_errors	ENST00000337907	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.997	C
RERE	473	genome.wustl.edu	37	1	8716261	8716261	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:8716261A>C	ENST00000337907.3	-	3	730	c.96T>G	c.(94-96)agT>agG	p.S32R	RERE_ENST00000400908.2_Missense_Mutation_p.S32R|RERE_ENST00000400907.2_Missense_Mutation_p.S32R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	32					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGAATTCTCACTCTCTCTTG	0.488																																						dbGAP											0													167.0	169.0	168.0					1																	8716261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.96T>G	1.37:g.8716261A>C	ENSP00000338629:p.Ser32Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.S32R	ENST00000337907.3	37	c.96	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336562	0.60963	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.56103	0.48;0.48	5.45	-4.7	0.03288	.	.	.	.	.	T	0.32133	0.0819	N	0.19112	0.55	0.44055	D	0.996795	B	0.33694	0.421	B	0.29942	0.109	T	0.08953	-1.0697	9	0.66056	D	0.02	-5.0153	12.0952	0.53750	0.2431:0.1173:0.6395:0.0	.	32	Q9P2R6	RERE_HUMAN	R	32	ENSP00000338629:S32R;ENSP00000383700:S32R	ENSP00000338629:S32R	S	-	3	2	RERE	8638848	0.993000	0.37304	0.983000	0.44433	0.972000	0.66771	0.351000	0.20096	-0.632000	0.05553	0.455000	0.32223	AGT	RERE	-	NULL	ENSG00000142599		0.488	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	610	0.16	1	A			8716261	8716261	-1	no_errors	ENST00000337907	ensembl	human	known	69_37n	missense	402	15.55	74	SNP	0.872	C
REST	5978	genome.wustl.edu	37	4	57797237	57797237	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:57797237A>G	ENST00000309042.7	+	4	2527	c.2213A>G	c.(2212-2214)gAg>gGg	p.E738G		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	738	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CCTCCCATGGAGGTGGTCCAG	0.557																																						dbGAP											0													226.0	235.0	232.0					4																	57797237		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2213A>G	4.37:g.57797237A>G	ENSP00000311816:p.Glu738Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E738G	ENST00000309042.7	37	c.2213	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	A	8.851	0.944653	0.18356	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08807	3.05	2.12	0.92	0.19397	.	0.749252	0.10952	N	0.615988	T	0.09113	0.0225	M	0.63843	1.955	0.09310	N	1	B;B	0.25312	0.123;0.003	B;B	0.20955	0.032;0.002	T	0.29640	-1.0005	10	0.42905	T	0.14	.	5.4566	0.16594	0.8432:0.0:0.1568:0.0	.	715;738	F8WAN5;Q13127	.;REST_HUMAN	G	738;715	ENSP00000311816:E738G	ENSP00000311816:E738G	E	+	2	0	REST	57491994	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.068000	0.11561	0.254000	0.21573	0.454000	0.30748	GAG	REST	-	NULL	ENSG00000084093		0.557	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2	311	0.32	1	A	NM_005612		57797237	57797237	+1	no_errors	ENST00000309042	ensembl	human	known	69_37n	missense	410	11.23	52	SNP	0.002	G
RETSAT	54884	genome.wustl.edu	37	2	85573318	85573318	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:85573318A>C	ENST00000295802.4	-	6	1110				RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)						oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CATTTCTCAGACCTTGGAGTC	0.557																																						dbGAP											0													43.0	49.0	47.0					2																	85573318		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.998-101T>G	2.37:g.85573318A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	RNA	SNP	-	NULL	ENST00000295802.4	37	NULL	CCDS1972.1	2																																																																																			RETSAT	-	-	ENSG00000042445		0.557	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	43	0.00	0	A	NM_017750		85573318	85573318	-1	no_errors	ENST00000475624	ensembl	human	known	69_37n	rna	33	26.67	12	SNP	0.001	C
RFTN1	23180	genome.wustl.edu	37	3	16419313	16419313	+	Silent	SNP	A	A	C	rs564097114		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:16419313A>C	ENST00000334133.4	-	5	1010	c.738T>G	c.(736-738)ggT>ggG	p.G246G	RFTN1_ENST00000432519.1_Silent_p.G210G	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	246					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAAGTTCTCCACCATCTCCCT	0.617																																						dbGAP											0													61.0	64.0	63.0					3																	16419313		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.738T>G	3.37:g.16419313A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	NULL	p.G246	ENST00000334133.4	37	c.738	CCDS33712.1	3																																																																																			RFTN1	-	NULL	ENSG00000131378		0.617	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	173	0.57	1	A	NM_015150		16419313	16419313	-1	no_errors	ENST00000334133	ensembl	human	known	69_37n	silent	91	20.18	23	SNP	0.000	C
RFTN1	23180	genome.wustl.edu	37	3	16419359	16419359	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:16419359A>C	ENST00000334133.4	-	5	964	c.692T>G	c.(691-693)gTg>gGg	p.V231G	RFTN1_ENST00000432519.1_Missense_Mutation_p.V195G	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	231					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGCGAGGGGCACCTCCCCTCT	0.632																																						dbGAP											0													54.0	57.0	56.0					3																	16419359		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.692T>G	3.37:g.16419359A>C	ENSP00000334153:p.Val231Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.V231G	ENST00000334133.4	37	c.692	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252809	0.22965	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.41400	1.65;1.63;1.0	4.94	-6.47	0.01902	.	4.266500	0.00559	N	0.000263	T	0.12817	0.0311	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13845	-1.0494	10	0.15066	T	0.55	-3.0E-4	2.5575	0.04764	0.3672:0.2066:0.3307:0.0956	.	195;231	G3XAJ6;Q14699	.;RFTN1_HUMAN	G	195;231;231	ENSP00000403926:V195G;ENSP00000334153:V231G;ENSP00000403997:V231G	ENSP00000334153:V231G	V	-	2	0	RFTN1	16394363	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.193000	0.09573	-0.584000	0.05913	0.459000	0.35465	GTG	RFTN1	-	NULL	ENSG00000131378		0.632	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	168	0.00	0	A	NM_015150		16419359	16419359	-1	no_errors	ENST00000334133	ensembl	human	known	69_37n	missense	83	20.19	21	SNP	0.000	C
RFWD3	55159	genome.wustl.edu	37	16	74662504	74662504	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:74662504A>C	ENST00000361070.4	-	11	1912	c.1815T>G	c.(1813-1815)ggT>ggG	p.G605G	RFWD3_ENST00000571750.1_Silent_p.G605G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	605					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCAGCACCCCACCATATGGAA	0.517																																						dbGAP											0													156.0	158.0	157.0					16																	74662504		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1815T>G	16.37:g.74662504A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.G605	ENST00000361070.4	37	c.1815	CCDS32486.1	16																																																																																			RFWD3	-	NULL	ENSG00000168411		0.517	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	243	0.00	0	A	NM_018124		74662504	74662504	-1	no_errors	ENST00000361070	ensembl	human	known	69_37n	silent	221	11.24	28	SNP	1.000	C
RFX4	5992	genome.wustl.edu	37	12	107080791	107080791	+	Silent	SNP	A	A	C	rs202160084		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:107080791A>C	ENST00000392842.1	+	6	921	c.507A>C	c.(505-507)tcA>tcC	p.S169S	RFX4_ENST00000229387.5_Silent_p.S75S|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.2_ENST00000547531.1_RNA|RFX4_ENST00000357881.4_Silent_p.S178S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	169					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGGCATATTCACCCCGGTCCA	0.478																																						dbGAP											0													202.0	191.0	195.0					12																	107080791		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.507A>C	12.37:g.107080791A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	pfam_DNA-bd_RFX	p.S178	ENST00000392842.1	37	c.534	CCDS9106.1	12																																																																																			RFX4	-	NULL	ENSG00000111783		0.478	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	478	0.21	1	A	NM_032491		107080791	107080791	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	silent	400	11.06	50	SNP	0.998	C
RGAG1	57529	genome.wustl.edu	37	X	109694112	109694112	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:109694112A>C	ENST00000465301.2	+	3	513	c.267A>C	c.(265-267)ccA>ccC	p.P89P	RGAG1_ENST00000540313.1_Silent_p.P89P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	89										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CATTGTCCCCACCCCTAATGC	0.537											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													191.0	179.0	183.0					X																	109694112		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.267A>C	X.37:g.109694112A>C		Somatic	1421	WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Silent	SNP	NULL	p.P89	ENST00000465301.2	37	c.267	CCDS14552.1	X																																																																																			RGAG1	-	NULL	ENSG00000243978		0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	788	0.63	5	A	NM_020769		109694112	109694112	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	silent	486	15.01	86	SNP	0.215	C
RGAG1	57529	genome.wustl.edu	37	X	109694926	109694926	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:109694926A>C	ENST00000465301.2	+	3	1327	c.1081A>C	c.(1081-1083)Acc>Ccc	p.T361P	RGAG1_ENST00000540313.1_Missense_Mutation_p.T361P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	361										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTGATGCCCACCCAAACGAT	0.542																																						dbGAP											0													204.0	201.0	202.0					X																	109694926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1081A>C	X.37:g.109694926A>C	ENSP00000419786:p.Thr361Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.T361P	ENST00000465301.2	37	c.1081	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	A	9.698	1.153731	0.21371	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.58652	0.32;0.32	4.42	1.67	0.24075	.	0.400832	0.18392	N	0.142639	T	0.33904	0.0879	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.14504	-1.0470	9	.	.	.	-1.9592	5.5731	0.17208	0.7451:0.0:0.2549:0.0	.	361	Q8NET4	RGAG1_HUMAN	P	361	ENSP00000419786:T361P;ENSP00000441452:T361P	.	T	+	1	0	RGAG1	109581582	0.007000	0.16637	0.002000	0.10522	0.081000	0.17604	0.253000	0.18296	0.204000	0.20548	0.486000	0.48141	ACC	RGAG1	-	NULL	ENSG00000243978		0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	779	0.76	6	A	NM_020769		109694926	109694926	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	409	16.94	84	SNP	0.002	C
RGAG1	57529	genome.wustl.edu	37	X	109695035	109695035	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:109695035T>G	ENST00000465301.2	+	3	1436	c.1190T>G	c.(1189-1191)gTg>gGg	p.V397G	RGAG1_ENST00000540313.1_Missense_Mutation_p.V397G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	397										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGGGGTGATGTCTGCA	0.512																																						dbGAP											0													190.0	198.0	195.0					X																	109695035		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1190T>G	X.37:g.109695035T>G	ENSP00000419786:p.Val397Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.V397G	ENST00000465301.2	37	c.1190	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	T	2.551	-0.304046	0.05495	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.43688	0.94;0.94	4.06	-2.92	0.05615	.	3.827450	0.00866	N	0.001964	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03463	-1.1034	9	.	.	.	3.9461	1.0861	0.01653	0.2202:0.1699:0.1276:0.4822	.	397	Q8NET4	RGAG1_HUMAN	G	397	ENSP00000419786:V397G;ENSP00000441452:V397G	.	V	+	2	0	RGAG1	109581691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	-1.206000	0.02641	-1.583000	0.00853	GTG	RGAG1	-	NULL	ENSG00000243978		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	791	0.75	6	T	NM_020769		109695035	109695035	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	405	13.25	62	SNP	0.000	G
RGAG1	57529	genome.wustl.edu	37	X	109695160	109695160	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:109695160A>C	ENST00000465301.2	+	3	1561	c.1315A>C	c.(1315-1317)Acc>Ccc	p.T439P	RGAG1_ENST00000540313.1_Missense_Mutation_p.T439P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	439										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGCCATGACCACCTCACTGAT	0.498																																						dbGAP											0													156.0	147.0	150.0					X																	109695160		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1315A>C	X.37:g.109695160A>C	ENSP00000419786:p.Thr439Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.T439P	ENST00000465301.2	37	c.1315	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072551	0.55646	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.64803	-0.12;-0.12	3.97	1.58	0.23477	.	0.495627	0.15111	N	0.279979	T	0.69024	0.3065	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	D	0.63877	0.919	T	0.56353	-0.7993	9	.	.	.	-2.7903	5.6236	0.17470	0.633:0.0:0.367:0.0	.	439	Q8NET4	RGAG1_HUMAN	P	439	ENSP00000419786:T439P;ENSP00000441452:T439P	.	T	+	1	0	RGAG1	109581816	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	0.476000	0.22180	0.210000	0.20664	0.441000	0.28932	ACC	RGAG1	-	NULL	ENSG00000243978		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	656	0.61	4	A	NM_020769		109695160	109695160	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	324	12.80	48	SNP	0.001	C
RGMA	56963	genome.wustl.edu	37	15	93588831	93588831	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:93588831A>C	ENST00000329082.7	-	4	1021	c.750T>G	c.(748-750)ggT>ggG	p.G250G	RGMA_ENST00000542321.2_Silent_p.G234G|RGMA_ENST00000556658.1_Silent_p.G141G|RGMA_ENST00000538818.1_Silent_p.G141G|RGMA_ENST00000543599.1_Silent_p.G234G|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Silent_p.G258G|RGMA_ENST00000425933.2_Silent_p.G234G	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	250					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCTTGTCCCCACCGTTCTTAG	0.587																																						dbGAP											0													48.0	54.0	52.0					15																	93588831		2113	4229	6342	-	-	-	SO:0001819	synonymous_variant	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.750T>G	15.37:g.93588831A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	pfam_RGM_N,pfam_RGM_C	p.G250	ENST00000329082.7	37	c.750	CCDS45357.1	15																																																																																			RGMA	-	pfam_RGM_C	ENSG00000182175		0.587	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	21	0.00	0	A	NM_020211		93588831	93588831	-1	no_errors	ENST00000329082	ensembl	human	known	69_37n	silent	15	27.27	6	SNP	0.008	C
RGMB	285704	genome.wustl.edu	37	5	98115353	98115353	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:98115353A>C	ENST00000513185.1	+	2	642	c.206A>C	c.(205-207)cAc>cCc	p.H69P	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.H110P			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	69					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGACTTCTCACCTGAACTCT	0.527																																						dbGAP											0													176.0	179.0	178.0					5																	98115353		2036	4180	6216	-	-	-	SO:0001583	missense	0			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.206A>C	5.37:g.98115353A>C	ENSP00000423256:p.His69Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D6R9A0|Q8NC92	Missense_Mutation	SNP	pfam_RGM_C,pfam_RGM_N	p.H110P	ENST00000513185.1	37	c.329		5	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829510	0.50845	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97352	-4.35;-4.35	5.31	5.31	0.75309	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	L	0.54323	1.7	0.80722	D	1	B	0.26602	0.154	B	0.31869	0.137	D	0.94022	0.7293	10	0.30854	T	0.27	-25.4164	15.5539	0.76177	1.0:0.0:0.0:0.0	.	69	Q6NW40	RGMB_HUMAN	P	110;69	ENSP00000308219:H110P;ENSP00000423256:H69P	ENSP00000308219:H110P	H	+	2	0	RGMB	98143253	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	4.672000	0.61597	2.140000	0.66376	0.460000	0.39030	CAC	RGMB	-	pfam_RGM_N	ENSG00000174136		0.527	RGMB-003	KNOWN	basic	protein_coding	RGMB	HGNC	protein_coding	OTTHUMT00000370308.1	242	0.00	0	A	NM_173670		98115353	98115353	+1	no_errors	ENST00000308234	ensembl	human	known	69_37n	missense	176	13.30	27	SNP	1.000	C
RGPD3	653489	genome.wustl.edu	37	2	107040733	107040733	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:107040733A>C	ENST00000409886.3	-	20	3777	c.3690T>G	c.(3688-3690)ggT>ggG	p.G1230G	RGPD3_ENST00000304514.7_Silent_p.G1230G	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1230					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTCTGAGGCACCGGCCGCAC	0.403																																						dbGAP											0													4.0	4.0	4.0					2																	107040733		630	1475	2105	-	-	-	SO:0001819	synonymous_variant	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3690T>G	2.37:g.107040733A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G1230	ENST00000409886.3	37	c.3690	CCDS46379.1	2																																																																																			RGPD3	-	NULL	ENSG00000153165		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	532	0.19	1	A	XM_929931		107040733	107040733	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	silent	361	13.78	58	SNP	0.002	C
RGR	5995	genome.wustl.edu	37	10	86008622	86008622	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:86008622T>G	ENST00000359452.4	+	3	274				RGR_ENST00000358110.5_Intron|RGR_ENST00000372092.3_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ACTTGGCAGGTGTGGGAGGTG	0.582																																					NSCLC(15;204 545 5889 6385 32445)	dbGAP											0													54.0	52.0	53.0					10																	86008622		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.237-44T>G	10.37:g.86008622T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK7|Q96FC5	RNA	SNP	-	NULL	ENST00000359452.4	37	NULL	CCDS7374.1	10																																																																																			RGR	-	-	ENSG00000148604		0.582	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	84	0.00	0	T	NM_002921		86008622	86008622	+1	no_errors	ENST00000483744	ensembl	human	known	69_37n	rna	38	27.78	15	SNP	0.004	G
RGS14	10636	genome.wustl.edu	37	5	176798517	176798517	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:176798517T>C	ENST00000408923.3	+	14	1613	c.1425T>C	c.(1423-1425)ccT>ccC	p.P475P	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	475					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATCCCCCTCCAGCGTCCC	0.592																																					NSCLC(47;353 1896 28036)	dbGAP											0													120.0	131.0	127.0					5																	176798517		1963	4159	6122	-	-	-	SO:0001819	synonymous_variant	0			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1425T>C	5.37:g.176798517T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal	p.L346P	ENST00000408923.3	37	c.1037	CCDS43405.1	5	.	.	.	.	.	.	.	.	.	.	T	4.145	0.025368	0.08054	.	.	ENSG00000169220	ENST00000511890	.	.	.	4.92	-2.05	0.07321	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	0.1896	2.2958	0.04150	0.1227:0.327:0.1257:0.4247	.	.	.	.	P	346	.	.	L	+	2	0	RGS14	176731123	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-1.187000	0.03067	-0.212000	0.10109	0.455000	0.32223	CTC	RGS14	-	NULL	ENSG00000169220		0.592	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	103	0.96	1	T	NM_006480		176798517	176798517	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511890	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	0.000	C
RHOBTB2	23221	genome.wustl.edu	37	8	22863544	22863544	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:22863544A>C	ENST00000251822.6	+	4	905	c.368A>C	c.(367-369)tAc>tCc	p.Y123S	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.Y130S|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.Y145S|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	123	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACCATGTGGTACCCAGAAATC	0.567																																						dbGAP											0													352.0	327.0	336.0					8																	22863544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.368A>C	8.37:g.22863544A>C	ENSP00000251822:p.Tyr123Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.Y123S	ENST00000251822.6	37	c.368	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127057	0.56721	.	.	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.5	4.33	0.51752	.	0.123707	0.56097	D	0.000027	T	0.39600	0.1084	M	0.64567	1.98	0.49798	D	0.999823	P;P;P	0.46220	0.732;0.732;0.874	P;P;P	0.54210	0.745;0.745;0.745	T	0.18493	-1.0335	10	0.72032	D	0.01	.	10.8404	0.46710	0.8585:0.0:0.0:0.1415	.	130;123;145	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	S	145;145;130;123	ENSP00000427926:Y145S;ENSP00000430785:Y145S;ENSP00000429141:Y130S;ENSP00000251822:Y123S	ENSP00000251822:Y123S	Y	+	2	0	RHOBTB2	22919489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.204000	0.72143	0.893000	0.36288	0.533000	0.62120	TAC	RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000008853		0.567	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	298	0.99	3	A			22863544	22863544	+1	no_errors	ENST00000251822	ensembl	human	known	69_37n	missense	216	10.74	26	SNP	1.000	C
RHOBTB2	23221	genome.wustl.edu	37	8	22868052	22868052	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:22868052T>G	ENST00000251822.6	+	7	2159	c.1622T>G	c.(1621-1623)gTg>gGg	p.V541G	RHOBTB2_ENST00000522948.1_Splice_Site_p.V548G|RHOBTB2_ENST00000519685.1_Splice_Site_p.V563G|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	541	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTCCCCAGGTGGTGTTTCCC	0.562																																						dbGAP											0													97.0	86.0	90.0					8																	22868052		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1621-1T>G	8.37:g.22868052T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.V541G	ENST00000251822.6	37	c.1622	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199609	0.79015	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.70399	-0.48;-0.48;-0.48	4.16	4.16	0.48862	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.119778	0.56097	D	0.000030	D	0.85750	0.5769	M	0.91663	3.23	0.80722	D	1	D;D;D	0.63880	0.987;0.993;0.993	D;D;D	0.70016	0.916;0.955;0.967	D	0.88749	0.3249	10	0.87932	D	0	.	12.4456	0.55649	0.0:0.0:0.0:1.0	.	548;541;563	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	G	563;548;541	ENSP00000427926:V563G;ENSP00000429141:V548G;ENSP00000251822:V541G	ENSP00000251822:V541G	V	+	2	0	RHOBTB2	22923997	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.861000	0.87004	1.854000	0.53819	0.533000	0.62120	GTG	RHOBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000008853		0.562	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	160	0.00	0	T		Missense_Mutation	22868052	22868052	+1	no_errors	ENST00000251822	ensembl	human	known	69_37n	missense	143	16.09	28	SNP	1.000	G
RIBC1	158787	genome.wustl.edu	37	X	53454979	53454979	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:53454979T>G	ENST00000375327.3	+	4	299	c.146T>G	c.(145-147)gTg>gGg	p.V49G	RIBC1_ENST00000414955.2_Missense_Mutation_p.V49G|RIBC1_ENST00000457095.1_Missense_Mutation_p.V49G	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	49										lung(2)	2						AACAACCAGGTGGGAGACCGA	0.537																																						dbGAP											0													73.0	62.0	66.0					X																	53454979		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.146T>G	X.37:g.53454979T>G	ENSP00000364476:p.Val49Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.V49G	ENST00000375327.3	37	c.146	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057867	0.36277	.	.	ENSG00000158423	ENST00000329209;ENST00000414955;ENST00000457095;ENST00000375327	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.13	5.13	0.70059	.	0.131944	0.49916	D	0.000136	T	0.58148	0.2102	M	0.83603	2.65	0.44908	D	0.997923	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.99;0.998	T	0.64816	-0.6318	10	0.87932	D	0	-16.5577	13.0368	0.58877	0.0:0.0:0.0:1.0	.	49;49;49	E9PDU2;Q8N443;Q8N443-2	.;RIBC1_HUMAN;.	G	49	ENSP00000332142:V49G;ENSP00000401463:V49G;ENSP00000402080:V49G;ENSP00000364476:V49G	ENSP00000332142:V49G	V	+	2	0	RIBC1	53471704	1.000000	0.71417	0.415000	0.26534	0.032000	0.12392	2.808000	0.47963	1.718000	0.51419	0.417000	0.27973	GTG	RIBC1	-	pfam_RIB43A	ENSG00000158423		0.537	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	115	0.86	1	T	NM_144968		53454979	53454979	+1	no_errors	ENST00000375327	ensembl	human	known	69_37n	missense	83	16.35	17	SNP	0.980	G
RHOXF2	84528	genome.wustl.edu	37	X	119297567	119297567	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:119297567A>C	ENST00000371388.3	+	4	931	c.741A>C	c.(739-741)ccA>ccC	p.P247P		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	247	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						TCCCCATGCCACCCTTTCCTC	0.567																																						dbGAP											0													1.0	1.0	1.0					X																	119297567		117	315	432	-	-	-	SO:0001819	synonymous_variant	0				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.741A>C	X.37:g.119297567A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR00	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P247	ENST00000371388.3	37	c.741	CCDS14594.1	X																																																																																			RHOXF2	-	NULL	ENSG00000131721		0.567	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	HGNC	protein_coding	OTTHUMT00000411977.1	20	0.00	0	A	NM_032498		119297567	119297567	+1	no_errors	ENST00000371388	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	0.000	C
RICTOR	253260	genome.wustl.edu	37	5	38947476	38947476	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:38947476T>G	ENST00000357387.3	-	32	4234	c.4204A>C	c.(4204-4206)Acc>Ccc	p.T1402P	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1426P	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CGTTGCAGGGTATTTTGATTA	0.393																																						dbGAP											0													112.0	101.0	105.0					5																	38947476		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4204A>C	5.37:g.38947476T>G	ENSP00000349959:p.Thr1402Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T1426P	ENST00000357387.3	37	c.4276	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412249	0.83340	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.56776	0.74;0.44	5.69	5.69	0.88448	.	0.044625	0.85682	D	0.000000	T	0.59046	0.2165	L	0.50333	1.59	0.54753	D	0.999989	P;P	0.52061	0.95;0.95	P;P	0.50708	0.648;0.648	T	0.63355	-0.6656	10	0.87932	D	0	-10.8404	15.9526	0.79855	0.0:0.0:0.0:1.0	.	1402;1426	Q6R327;Q6R327-3	RICTR_HUMAN;.	P	1402;1426	ENSP00000349959:T1402P;ENSP00000296782:T1426P	ENSP00000296782:T1426P	T	-	1	0	RICTOR	38983233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.620000	0.67736	2.168000	0.68352	0.533000	0.62120	ACC	RICTOR	-	NULL	ENSG00000164327		0.393	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	190	0.52	1	T	NM_152756		38947476	38947476	-1	no_errors	ENST00000296782	ensembl	human	known	69_37n	missense	105	16.00	20	SNP	1.000	G
RIF1	55183	genome.wustl.edu	37	2	152322145	152322145	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:152322145T>G	ENST00000243326.5	+	29	6594	c.6111T>G	c.(6109-6111)ggT>ggG	p.G2037G	RIF1_ENST00000430328.2_Silent_p.G2037G|RIF1_ENST00000444746.2_Silent_p.G2037G|RIF1_ENST00000428287.2_Silent_p.G2037G|RIF1_ENST00000453091.2_Silent_p.G2037G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCATGATGGTGAAACAGAGA	0.398																																						dbGAP											0													99.0	85.0	90.0					2																	152322145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6111T>G	2.37:g.152322145T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	NULL	p.V311G	ENST00000243326.5	37	c.932	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	99	0.00	0	T			152322145	152322145	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454583	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	0.001	G
RIMS2	9699	genome.wustl.edu	37	8	104709398	104709398	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:104709398T>G	ENST00000406091.3	+	2	261	c.261T>G	c.(259-261)ggT>ggG	p.G87G		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	118	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAGAAGGGTGATGCGCCAA	0.428										HNSCC(12;0.0054)																												dbGAP											0													149.0	150.0	150.0					8																	104709398		1996	4158	6154	-	-	-	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.261T>G	8.37:g.104709398T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.G87	ENST00000406091.3	37	c.261	CCDS55269.1	8																																																																																			RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	ENSG00000176406		0.428	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		276	0.00	0	T	NM_001100117		104709398	104709398	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	silent	214	25.35	73	SNP	0.938	G
RIMS2	9699	genome.wustl.edu	37	8	105025835	105025835	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:105025835A>C	ENST00000507740.1	+	16	2888	c.2652A>C	c.(2650-2652)tcA>tcC	p.S884S	RIMS2_ENST00000406091.3_Silent_p.S1070S|RIMS2_ENST00000262231.10_Silent_p.S909S|RIMS2_ENST00000436393.2_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1132	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCCTCCTTCACCTGCCTTAT	0.473										HNSCC(12;0.0054)																												dbGAP											0													111.0	106.0	108.0					8																	105025835		1975	4173	6148	-	-	-	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2652A>C	8.37:g.105025835A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.S1070	ENST00000507740.1	37	c.3210	CCDS43761.1	8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.473	RIMS2-005	NOVEL	basic|CCDS	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367215.1	152	0.65	1	A	NM_001100117		105025835	105025835	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	silent	73	23.71	23	SNP	1.000	C
RIMS2	9699	genome.wustl.edu	37	8	105263949	105263949	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:105263949A>C	ENST00000436393.2	+	28	4246	c.4005A>C	c.(4003-4005)ccA>ccC	p.P1335P	RIMS2_ENST00000406091.3_Silent_p.P1317P|RIMS2_ENST00000507740.1_Silent_p.P1131P|RIMS2_ENST00000262231.10_Silent_p.P1156P|RIMS2_ENST00000339750.2_Silent_p.P253P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1379	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACTTTTCCCACCTTCCTCCC	0.458										HNSCC(12;0.0054)																												dbGAP											0													174.0	174.0	174.0					8																	105263949		1884	4108	5992	-	-	-	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4005A>C	8.37:g.105263949A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.P1317	ENST00000436393.2	37	c.3951		8																																																																																			RIMS2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000176406		0.458	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	377	0.53	2	A	NM_001100117		105263949	105263949	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	silent	292	14.33	49	SNP	0.998	C
CLDN2	9075	genome.wustl.edu	37	X	106144713	106144713	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:106144713T>G	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Missense_Mutation_p.H96P|RIPPLY1_ENST00000411805.1_Intron	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGACAGGGTGATGGAACTT	0.502																																						dbGAP											0													102.0	101.0	101.0					X																	106144713		2030	4170	6200	-	-	-	SO:0001627	intron_variant	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+979T>G	X.37:g.106144713T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B9	Missense_Mutation	SNP	NULL	p.H96P	ENST00000541806.1	37	c.287	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688467	0.68271	.	.	ENSG00000147223	ENST00000276173	.	.	.	5.33	5.33	0.75918	.	0.124058	0.52532	D	0.000070	T	0.78407	0.4278	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.81250	-0.1018	9	0.87932	D	0	.	10.9186	0.47150	0.0:0.0:0.0:1.0	.	96	Q0D2K3	RIPP1_HUMAN	P	96	.	ENSP00000276173:H96P	H	-	2	0	RIPPLY1	106031369	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.933000	0.56545	2.043000	0.60533	0.486000	0.48141	CAC	RIPPLY1	-	NULL	ENSG00000147223		0.502	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPPLY1	HGNC	protein_coding	OTTHUMT00000057815.1	202	0.49	1	T			106144713	106144713	-1	no_errors	ENST00000276173	ensembl	human	known	69_37n	missense	120	15.49	22	SNP	1.000	G
RNASE4	6038	genome.wustl.edu	37	14	21167836	21167836	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:21167836T>G	ENST00000555835.1	+	2	982	c.306T>G	c.(304-306)ggT>ggG	p.G102G	RNASE4_ENST00000304704.4_Silent_p.G102G|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Silent_p.G102G|RNASE4_ENST00000397995.2_Silent_p.G102G	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	102					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCCATGAGGGTGTAGTGAAGG	0.498																																					Esophageal Squamous(59;1059 1362 26290 51151)	dbGAP											0													155.0	127.0	137.0					14																	21167836		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.306T>G	14.37:g.21167836T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.G102	ENST00000555835.1	37	c.306	CCDS9555.1	14																																																																																			RNASE4	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	ENSG00000181784		0.498	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE4	HGNC	protein_coding	OTTHUMT00000073729.3	345	0.00	0	T			21167836	21167836	+1	no_errors	ENST00000304704	ensembl	human	known	69_37n	silent	261	13.53	41	SNP	0.983	G
RNF103	7844	genome.wustl.edu	37	2	86832518	86832518	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:86832518A>C	ENST00000237455.4	-	4	1474	c.506T>G	c.(505-507)gTc>gGc	p.V169G	AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	169					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TGTGGATCGGACCCAGCCTCT	0.393																																						dbGAP											0													88.0	86.0	87.0					2																	86832518		2203	4300	6503	-	-	-	SO:0001583	missense	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.506T>G	2.37:g.86832518A>C	ENSP00000237455:p.Val169Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.V169G	ENST00000237455.4	37	c.506	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	A	16.53	3.150423	0.57151	.	.	ENSG00000239305	ENST00000237455	T	0.45668	0.89	5.64	5.64	0.86602	.	0.478838	0.23167	N	0.051177	T	0.31136	0.0787	N	0.22421	0.69	0.49915	D	0.999836	B	0.26975	0.165	B	0.23574	0.047	T	0.07290	-1.0780	10	0.27785	T	0.31	-6.4131	15.8547	0.78968	1.0:0.0:0.0:0.0	.	169	O00237	RN103_HUMAN	G	169	ENSP00000237455:V169G	ENSP00000237455:V169G	V	-	2	0	RNF103	86686029	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	6.483000	0.73617	2.148000	0.66965	0.460000	0.39030	GTC	RNF103	-	NULL	ENSG00000239305		0.393	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	178	0.56	1	A	NM_005667		86832518	86832518	-1	no_errors	ENST00000237455	ensembl	human	known	69_37n	missense	92	17.70	20	SNP	0.987	C
RNF111	54778	genome.wustl.edu	37	15	59350671	59350671	+	Missense_Mutation	SNP	A	A	C	rs35962781		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:59350671A>C	ENST00000557998.1	+	5	1575	c.1288A>C	c.(1288-1290)Acc>Ccc	p.T430P	RNF111_ENST00000434298.1_Missense_Mutation_p.T430P|RNF111_ENST00000559209.1_Missense_Mutation_p.T430P|RNF111_ENST00000561186.1_Missense_Mutation_p.T430P|RNF111_ENST00000348370.4_Missense_Mutation_p.T430P	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	430	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTCAGCTGTCACCAGTAGCCA	0.458																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											0													259.0	258.0	258.0					15																	59350671		2192	4291	6483	-	-	-	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1288A>C	15.37:g.59350671A>C	ENSP00000452732:p.Thr430Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T430P	ENST00000557998.1	37	c.1288	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032602	0.54790	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15487	2.42;2.43	5.98	-1.24	0.09435	.	0.309813	0.38272	N	0.001745	T	0.05868	0.0153	N	0.08118	0	0.22648	N	0.998892	B;B;B	0.19200	0.034;0.016;0.027	B;B;B	0.17722	0.019;0.006;0.014	T	0.22695	-1.0209	10	0.66056	D	0.02	-0.0988	0.145	0.00087	0.2678:0.2153:0.1688:0.3482	.	430;430;430	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	P	430	ENSP00000288199:T430P;ENSP00000393641:T430P	ENSP00000288199:T430P	T	+	1	0	RNF111	57137963	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	1.860000	0.39428	-0.087000	0.12528	0.477000	0.44152	ACC	RNF111	-	NULL	ENSG00000157450		0.458	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	616	0.00	0	A	NM_017610		59350671	59350671	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	missense	390	11.36	50	SNP	0.994	C
RNF122	79845	genome.wustl.edu	37	8	33408602	33408602	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:33408602A>C	ENST00000256257.1	-	4	631	c.230T>G	c.(229-231)gTg>gGg	p.V77G		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	77						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TTTAAGCACCACCTGAAAAGA	0.532																																						dbGAP											0													190.0	196.0	194.0					8																	33408602		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.229-1T>G	8.37:g.33408602A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V77G	ENST00000256257.1	37	c.230	CCDS6091.1	8	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050003	0.75846	.	.	ENSG00000133874	ENST00000256257	T	0.34072	1.38	5.75	5.75	0.90469	.	0.062112	0.64402	D	0.000004	T	0.55481	0.1923	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.51228	-0.8732	10	0.18276	T	0.48	-23.405	14.297	0.66321	1.0:0.0:0.0:0.0	.	77	Q9H9V4	RN122_HUMAN	G	77	ENSP00000256257:V77G	ENSP00000256257:V77G	V	-	2	0	RNF122	33528144	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.605000	0.82844	2.192000	0.70111	0.460000	0.39030	GTG	RNF122	-	NULL	ENSG00000133874		0.532	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF122	HGNC	protein_coding	OTTHUMT00000376562.1	201	0.00	0	A	NM_024787	Missense_Mutation	33408602	33408602	-1	no_errors	ENST00000256257	ensembl	human	known	69_37n	missense	207	12.55	30	SNP	1.000	C
RNF123	63891	genome.wustl.edu	37	3	49735342	49735342	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49735342A>C	ENST00000327697.6	+	6	511	c.367A>C	c.(367-369)Acc>Ccc	p.T123P	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	123	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CAACTTTGGCACCATCCGCTC	0.562																																						dbGAP											0													322.0	285.0	297.0					3																	49735342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.367A>C	3.37:g.49735342A>C	ENSP00000328287:p.Thr123Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.T123P	ENST00000327697.6	37	c.367	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	A	17.75	3.467044	0.63625	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.61158	0.13	5.95	2.13	0.27403	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.326293	0.29806	N	0.011160	T	0.48624	0.1510	M	0.78637	2.42	0.80722	D	1	P	0.39391	0.671	B	0.32289	0.143	T	0.49532	-0.8930	10	0.72032	D	0.01	-21.8739	3.7743	0.08654	0.5141:0.0:0.1822:0.3037	.	123	Q5XPI4	RN123_HUMAN	P	123	ENSP00000328287:T123P	ENSP00000328287:T123P	T	+	1	0	RNF123	49710346	1.000000	0.71417	0.891000	0.34965	0.994000	0.84299	6.099000	0.71466	0.520000	0.28426	0.533000	0.62120	ACC	RNF123	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000164068		0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	147	0.67	1	A	NM_022064		49735342	49735342	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	74	17.39	16	SNP	0.999	C
RNF128	79589	genome.wustl.edu	37	X	106034297	106034297	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:106034297T>G	ENST00000255499.2	+	6	1236	c.986T>G	c.(985-987)gTg>gGg	p.V329G	RNF128_ENST00000324342.3_Splice_Site_p.V303G	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	329					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCTTTAAAGGTGGATGTTGAA	0.403																																						dbGAP											0													124.0	122.0	123.0					X																	106034297		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.985-1T>G	X.37:g.106034297T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V329G	ENST00000255499.2	37	c.986	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738751	0.15642	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.11604	2.95;2.76	5.55	1.44	0.22558	.	0.522273	0.17850	N	0.159906	T	0.10551	0.0258	L	0.48642	1.525	0.54753	D	0.999989	B;P	0.46457	0.017;0.878	B;P	0.46685	0.009;0.524	T	0.32929	-0.9888	10	0.22706	T	0.39	.	4.6988	0.12816	0.1418:0.2748:0.0:0.5834	.	329;303	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	G	303;329	ENSP00000316127:V303G;ENSP00000255499:V329G	ENSP00000255499:V329G	V	+	2	0	RNF128	105920953	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	0.517000	0.22832	0.251000	0.21505	0.412000	0.27726	GTG	RNF128	-	NULL	ENSG00000133135		0.403	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	352	0.56	2	T	NM_024539	Missense_Mutation	106034297	106034297	+1	no_errors	ENST00000255499	ensembl	human	known	69_37n	missense	230	12.55	33	SNP	0.997	G
RNF14	9604	genome.wustl.edu	37	5	141354478	141354478	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:141354478A>C	ENST00000394520.2	+	4	573	c.264A>C	c.(262-264)ccA>ccC	p.P88P	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Silent_p.P88P|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394519.1_Silent_p.P88P|RNF14_ENST00000347642.3_Silent_p.P88P|RNF14_ENST00000356143.1_Silent_p.P88P|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	88	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCTCTTCCCCACCTTCATTCA	0.398																																						dbGAP											0													174.0	157.0	162.0					5																	141354478		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.264A>C	5.37:g.141354478A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.P88	ENST00000394520.2	37	c.264	CCDS4270.1	5																																																																																			RNF14	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000013561		0.398	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	187	0.00	0	A	NM_004290		141354478	141354478	+1	no_errors	ENST00000347642	ensembl	human	known	69_37n	silent	178	18.18	40	SNP	0.993	C
RNF144B	255488	genome.wustl.edu	37	6	18457500	18457500	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:18457500A>C	ENST00000259939.3	+	5	763	c.446A>C	c.(445-447)cAc>cCc	p.H149P	RNF144B_ENST00000429054.2_Missense_Mutation_p.H60P	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	149					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H149R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CCTTCTTGCCACCTGAAATTC	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											318.0	278.0	291.0					6																	18457500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.446A>C	6.37:g.18457500A>C	ENSP00000259939:p.His149Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC	p.H149P	ENST00000259939.3	37	c.446	CCDS34345.1	6	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739713	0.30865	.	.	ENSG00000137393	ENST00000429054;ENST00000259939	T;T	0.63417	-0.04;-0.04	5.12	3.96	0.45880	Zinc finger, C6HC-type (2);	0.251403	0.47852	D	0.000202	T	0.51991	0.1707	M	0.81802	2.56	0.33264	D	0.560155	P	0.38788	0.647	B	0.43838	0.433	T	0.60084	-0.7332	9	.	.	.	.	5.9314	0.19140	0.7754:0.0:0.0776:0.1469	.	149	Q7Z419	R144B_HUMAN	P	60;149	ENSP00000411270:H60P;ENSP00000259939:H149P	.	H	+	2	0	RNF144B	18565479	0.003000	0.15002	1.000000	0.80357	0.999000	0.98932	0.796000	0.26986	2.048000	0.60808	0.496000	0.49642	CAC	RNF144B	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000137393		0.552	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144B	HGNC	protein_coding	OTTHUMT00000039965.2	419	0.00	0	A	XM_172581		18457500	18457500	+1	no_errors	ENST00000259939	ensembl	human	known	69_37n	missense	315	10.70	38	SNP	0.997	C
RNF148	378925	genome.wustl.edu	37	7	122342347	122342347	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:122342347A>C	ENST00000434824.1	-	1	674	c.458T>G	c.(457-459)gTg>gGg	p.V153G	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.V55G|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	153	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTATCATCACCGCGACTAT	0.463																																						dbGAP											0													272.0	270.0	270.0					7																	122342347		2031	4173	6204	-	-	-	SO:0001583	missense	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.458T>G	7.37:g.122342347A>C	ENSP00000388207:p.Val153Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X4|Q8N308	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V153G	ENST00000434824.1	37	c.458	CCDS47692.1	7	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120118	0.56613	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.08896	3.04	4.95	4.95	0.65309	Protease-associated domain, PA (1);	.	.	.	.	T	0.23926	0.0579	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.929;0.99	T	0.00475	-1.1717	9	0.87932	D	0	.	10.6981	0.45911	0.8571:0.0:0.0:0.1429	.	55;153	C9JVJ0;Q8N7C7	.;RN148_HUMAN	G	153;55	ENSP00000388207:V153G	ENSP00000388207:V153G	V	-	2	0	RNF148	122129583	0.999000	0.42202	0.998000	0.56505	0.933000	0.57130	4.175000	0.58263	1.980000	0.57719	0.454000	0.30748	GTG	RNF148	-	pfam_Protease-assoc_domain	ENSG00000235631		0.463	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	419	0.00	0	A	NM_198085		122342347	122342347	-1	no_errors	ENST00000434824	ensembl	human	known	69_37n	missense	311	15.26	56	SNP	0.998	C
RNF182	221687	genome.wustl.edu	37	6	13977941	13977941	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:13977941A>C	ENST00000488300.1	+	3	1114	c.591A>C	c.(589-591)ttA>ttC	p.L197F	RNF182_ENST00000537388.1_Missense_Mutation_p.L197F|RNF182_ENST00000537663.1_Missense_Mutation_p.L197F|RNF182_ENST00000544682.1_Missense_Mutation_p.L197F	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	197					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TCAGCTCCTTACCCTTAGGAA	0.493																																						dbGAP											0													224.0	226.0	225.0					6																	13977941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.591A>C	6.37:g.13977941A>C	ENSP00000420465:p.Leu197Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDG2|Q8NBG3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L197F	ENST00000488300.1	37	c.591	CCDS4531.1	6	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075481	0.76415	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.27	-5.26	0.02772	.	0.159812	0.40302	N	0.001123	T	0.25791	0.0628	L	0.58101	1.795	0.46260	D	0.99895	D	0.71674	0.998	D	0.80764	0.994	T	0.32025	-0.9922	9	.	.	.	-10.4741	12.1465	0.54026	0.2203:0.1124:0.6672:0.0	.	197	Q8N6D2	RN182_HUMAN	F	197	ENSP00000443228:L197F;ENSP00000420465:L197F;ENSP00000442021:L197F;ENSP00000441271:L197F	.	L	+	3	2	RNF182	14085920	0.985000	0.35326	0.869000	0.34112	0.966000	0.64601	0.201000	0.17276	-0.918000	0.03808	-0.374000	0.07098	TTA	RNF182	-	NULL	ENSG00000180537		0.493	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF182	HGNC	protein_coding	OTTHUMT00000039911.2	384	0.77	3	A	NM_152737		13977941	13977941	+1	no_errors	ENST00000488300	ensembl	human	known	69_37n	missense	210	11.67	28	SNP	0.984	C
RNF19A	25897	genome.wustl.edu	37	8	101273925	101273925	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:101273925A>C	ENST00000519449.1	-	9	1843	c.1527T>G	c.(1525-1527)ggT>ggG	p.G509G	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Silent_p.G509G	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	509					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAGTCAGCCCACCAACACTTC	0.473																																						dbGAP											0													214.0	167.0	183.0					8																	101273925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1527T>G	8.37:g.101273925A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.G509	ENST00000519449.1	37	c.1527	CCDS6286.1	8																																																																																			RNF19A	-	NULL	ENSG00000034677		0.473	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	148	0.00	0	A	NM_015435		101273925	101273925	-1	no_errors	ENST00000341084	ensembl	human	known	69_37n	silent	123	12.14	17	SNP	0.988	C
RNF213	57674	genome.wustl.edu	37	17	78321542	78321542	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:78321542A>C	ENST00000582970.1	+	29	9550	c.9407A>C	c.(9406-9408)cAc>cCc	p.H3136P	RNF213_ENST00000508628.2_Missense_Mutation_p.H3185P|RNF213_ENST00000336301.6_Missense_Mutation_p.H1209P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3136					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGGGGACCCACCGCGTCAAA	0.562																																						dbGAP											0													62.0	61.0	62.0					17																	78321542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9407A>C	17.37:g.78321542A>C	ENSP00000464087:p.His3136Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.H3136P	ENST00000582970.1	37	c.9407	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163995	0.38217	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.28895	1.59	5.14	5.14	0.70334	.	0.112319	0.64402	D	0.000013	T	0.60196	0.2250	M	0.86178	2.8	0.48288	D	0.999621	D	0.65815	0.995	D	0.76071	0.987	T	0.67726	-0.5596	10	0.87932	D	0	.	15.2405	0.73465	1.0:0.0:0.0:0.0	.	1209	Q63HN8	RN213_HUMAN	P	3136;3185;1209	ENSP00000338218:H1209P	ENSP00000338218:H1209P	H	+	2	0	RNF213	75936137	1.000000	0.71417	0.972000	0.41901	0.808000	0.45660	9.079000	0.94032	2.055000	0.61198	0.460000	0.39030	CAC	RNF213	-	NULL	ENSG00000173821		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	43	0.00	0	A	NM_020914		78321542	78321542	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	1.000	C
RNF220	55182	genome.wustl.edu	37	1	44878056	44878056	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:44878056A>C	ENST00000355387.2	+	2	737	c.287A>C	c.(286-288)cAc>cCc	p.H96P	RNF220_ENST00000361799.2_Missense_Mutation_p.H96P|RNF220_ENST00000372247.2_Missense_Mutation_p.H96P			Q5VTB9	RN220_HUMAN	ring finger protein 220	96					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTACACCTCCACCCTCAATTT	0.542																																						dbGAP											0													229.0	224.0	226.0					1																	44878056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.287A>C	1.37:g.44878056A>C	ENSP00000347548:p.His96Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.H96P	ENST00000355387.2	37	c.287	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678166	0.47886	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.9	5.9	0.94986	.	0.112545	0.64402	D	0.000011	T	0.66848	0.2831	L	0.32530	0.975	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	T	0.69446	-0.5143	9	0.66056	D	0.02	.	16.3359	0.83060	1.0:0.0:0.0:0.0	.	96	Q5VTB9	RN220_HUMAN	P	96	.	ENSP00000347548:H96P	H	+	2	0	RNF220	44650643	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.730000	0.91510	2.260000	0.74910	0.533000	0.62120	CAC	RNF220	-	NULL	ENSG00000187147		0.542	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	301	0.98	3	A	NM_018150		44878056	44878056	+1	no_errors	ENST00000355387	ensembl	human	known	69_37n	missense	320	15.84	61	SNP	1.000	C
RNF34	80196	genome.wustl.edu	37	12	121854108	121854108	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:121854108A>C	ENST00000392464.2	+	2	222	c.153A>C	c.(151-153)ccA>ccC	p.P51P	RNF34_ENST00000361234.5_Silent_p.P51P|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Silent_p.P52P					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCACCTACCCACCAGCAGCTA	0.478																																						dbGAP											0													182.0	179.0	180.0					12																	121854108		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.153A>C	12.37:g.121854108A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.P52	ENST00000392464.2	37	c.156		12																																																																																			RNF34	-	superfamily_Znf_FYVE_PHD	ENSG00000170633		0.478	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	RNF34	HGNC	protein_coding	OTTHUMT00000413892.1	182	0.00	0	A	NM_194271		121854108	121854108	+1	no_errors	ENST00000392465	ensembl	human	known	69_37n	silent	199	16.32	39	SNP	0.998	C
RNF8	9025	genome.wustl.edu	37	6	37336598	37336598	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:37336598T>G	ENST00000373479.4	+	3	772	c.579T>G	c.(577-579)ggT>ggG	p.G193G	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Silent_p.G193G	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	193					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGGGGAAAGGTGAAGTGGCCA	0.478																																						dbGAP											0													79.0	79.0	79.0					6																	37336598		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.579T>G	6.37:g.37336598T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING	p.G193	ENST00000373479.4	37	c.579	CCDS4834.1	6																																																																																			RNF8	-	pirsf_E3_Ub_ligase_RNF8	ENSG00000112130		0.478	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	HGNC	protein_coding	OTTHUMT00000040403.2	125	0.79	1	T			37336598	37336598	+1	no_errors	ENST00000373479	ensembl	human	known	69_37n	silent	75	27.88	29	SNP	0.000	G
RNLS	55328	genome.wustl.edu	37	10	90332663	90332663	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:90332663T>G	ENST00000331772.4	-	4	545	c.523A>C	c.(523-525)Acc>Ccc	p.T175P	RNLS_ENST00000437752.1_Missense_Mutation_p.T92P|RNLS_ENST00000466945.1_Intron|RNLS_ENST00000371947.3_Missense_Mutation_p.T175P	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	175					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GACTCACAGGTGGTGATGTCA	0.438																																						dbGAP											0													131.0	114.0	120.0					10																	90332663		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.523A>C	10.37:g.90332663T>G	ENSP00000332530:p.Thr175Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.T175P	ENST00000331772.4	37	c.523	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	T	9.026	0.985974	0.18889	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	T;T;D	0.92805	3.58;0.92;-3.11	5.87	2.18	0.27775	Amine oxidase (1);	0.452858	0.25503	N	0.030235	D	0.85252	0.5654	L	0.38175	1.15	0.09310	N	1	B;B;B	0.20164	0.042;0.001;0.031	B;B;B	0.25884	0.064;0.003;0.022	T	0.70439	-0.4871	10	0.25106	T	0.35	.	6.4361	0.21825	0.0:0.142:0.1326:0.7254	.	92;175;175	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	P	175;92;175	ENSP00000361015:T175P;ENSP00000387577:T92P;ENSP00000332530:T175P	ENSP00000332530:T175P	T	-	1	0	RNLS	90322643	0.993000	0.37304	0.137000	0.22149	0.872000	0.50106	2.488000	0.45276	0.119000	0.18210	0.533000	0.62120	ACC	RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.438	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	163	0.00	0	T	NM_018363		90332663	90332663	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	missense	125	20.89	33	SNP	0.285	G
RNLS	55328	genome.wustl.edu	37	10	90332666	90332666	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:90332666T>G	ENST00000331772.4	-	4	542	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	RNLS_ENST00000437752.1_Missense_Mutation_p.T91P|RNLS_ENST00000466945.1_Intron|RNLS_ENST00000371947.3_Missense_Mutation_p.T174P	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	174					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCACAGGTGGTGATGTCACCT	0.443																																						dbGAP											0													138.0	120.0	126.0					10																	90332666		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.520A>C	10.37:g.90332666T>G	ENSP00000332530:p.Thr174Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.T174P	ENST00000331772.4	37	c.520	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754211	0.49362	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.92099	-2.97;0.88;-2.97	5.87	-9.89	0.00464	Amine oxidase (1);	2.118350	0.01864	N	0.036812	D	0.84588	0.5505	L	0.36672	1.1	0.09310	N	1	P;B;B	0.36162	0.54;0.1;0.001	B;B;B	0.33890	0.172;0.08;0.004	T	0.75654	-0.3243	10	0.29301	T	0.29	.	9.4872	0.38937	0.0:0.353:0.2773:0.3697	.	91;174;174	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	P	174;91;174	ENSP00000361015:T174P;ENSP00000387577:T91P;ENSP00000332530:T174P	ENSP00000332530:T174P	T	-	1	0	RNLS	90322646	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-0.750000	0.04808	-1.601000	0.01601	-1.009000	0.02473	ACC	RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.443	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	161	0.62	1	T	NM_018363		90332666	90332666	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	missense	116	27.04	43	SNP	0.000	G
ROBO1	6091	genome.wustl.edu	37	3	79639000	79639000	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:79639000T>G	ENST00000464233.1	-	2	175	c.62A>C	c.(61-63)cAc>cCc	p.H21P		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	21					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGAAACAGGTGATTTGGGGA	0.398																																						dbGAP											0													163.0	162.0	162.0					3																	79639000		1916	4118	6034	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.62A>C	3.37:g.79639000T>G	ENSP00000420321:p.His21Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H21P	ENST00000464233.1	37	c.62	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	T	0.426	-0.905881	0.02453	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	T	0.60171	0.21	5.37	3.01	0.34805	.	0.815892	0.10286	N	0.692926	T	0.33673	0.0871	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20874	-1.0262	9	.	.	.	.	7.5745	0.27928	0.1213:0.0:0.1775:0.7012	.	21	Q9Y6N7	ROBO1_HUMAN	P	21	ENSP00000420321:H21P	.	H	-	2	0	ROBO1	79721690	0.036000	0.19791	0.005000	0.12908	0.035000	0.12851	0.632000	0.24583	0.834000	0.34852	0.455000	0.32223	CAC	ROBO1	-	NULL	ENSG00000169855		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	243	0.00	0	T	NM_002941		79639000	79639000	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	181	15.42	33	SNP	0.002	G
ROBO4	54538	genome.wustl.edu	37	11	124756675	124756675	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:124756675T>G	ENST00000306534.3	-	16	2964	c.2479A>C	c.(2479-2481)Acc>Ccc	p.T827P	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.T682P	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	827					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TACCCATAGGTGGTGGGGGGT	0.602																																						dbGAP											0													78.0	81.0	80.0					11																	124756675		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2479A>C	11.37:g.124756675T>G	ENSP00000304945:p.Thr827Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T827P	ENST00000306534.3	37	c.2479	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	t	24.5	4.540036	0.85917	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.74526	-0.85;-0.32	5.17	5.17	0.71159	.	0.000000	0.37261	N	0.002167	D	0.84316	0.5445	M	0.76328	2.33	0.39854	D	0.973284	D;D	0.71674	0.989;0.998	P;P	0.62649	0.885;0.905	D	0.87426	0.2385	10	0.87932	D	0	.	15.0306	0.71705	0.0:0.0:0.0:1.0	.	827;827	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	P	827;682	ENSP00000304945:T827P;ENSP00000437129:T682P	ENSP00000304945:T827P	T	-	1	0	ROBO4	124261885	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	6.926000	0.75835	1.941000	0.56285	0.529000	0.55759	ACC	ROBO4	-	NULL	ENSG00000154133		0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	71	0.00	0	T	NM_019055		124756675	124756675	-1	no_errors	ENST00000306534	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	1.000	G
ROBO4	54538	genome.wustl.edu	37	11	124756685	124756685	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:124756685T>G	ENST00000306534.3	-	16	2954	c.2469A>C	c.(2467-2469)tcA>tcC	p.S823S	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.S678S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	823					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGTGGGGGGTGAAGGAGCCC	0.587																																						dbGAP											0													83.0	87.0	86.0					11																	124756685		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2469A>C	11.37:g.124756685T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S823	ENST00000306534.3	37	c.2469	CCDS8455.1	11																																																																																			ROBO4	-	NULL	ENSG00000154133		0.587	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	66	0.00	0	T	NM_019055		124756685	124756685	-1	no_errors	ENST00000306534	ensembl	human	known	69_37n	silent	36	25.00	12	SNP	0.670	G
RORC	6097	genome.wustl.edu	37	1	151785948	151785948	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:151785948A>C	ENST00000318247.6	-	7	1174				RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Intron|RORC_ENST00000392697.3_Intron	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCCTGCCCACCCATCCCTG	0.567																																						dbGAP											0													74.0	71.0	72.0					1																	151785948		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1066+15T>G	1.37:g.151785948A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZR9|Q8N5V7|Q8NCY8	RNA	SNP	-	NULL	ENST00000318247.6	37	NULL	CCDS1004.1	1																																																																																			RORC	-	-	ENSG00000143365		0.567	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	111	0.89	1	A			151785948	151785948	-1	no_errors	ENST00000480719	ensembl	human	known	69_37n	rna	129	13.42	20	SNP	0.000	C
ROS1	6098	genome.wustl.edu	37	6	117642512	117642512	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:117642512A>C	ENST00000368508.3	-	35	5885	c.5687T>G	c.(5686-5688)gTg>gGg	p.V1896G	ROS1_ENST00000368507.3_Missense_Mutation_p.V1890G|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1896					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGCACTGTCACCCCTTCCTT	0.398			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													180.0	169.0	173.0					6																	117642512		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5687T>G	6.37:g.117642512A>C	ENSP00000357494:p.Val1896Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.V1896G	ENST00000368508.3	37	c.5687	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	A	3.741	-0.053597	0.07362	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71817	-0.6;-0.6	4.95	2.56	0.30785	.	0.437325	0.19359	N	0.116192	T	0.31979	0.0814	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	10	0.46703	T	0.11	.	3.1365	0.06441	0.5645:0.0:0.2647:0.1708	.	1896	P08922	ROS1_HUMAN	G	1896;1890	ENSP00000357494:V1896G;ENSP00000357493:V1890G	ENSP00000357493:V1890G	V	-	2	0	ROS1	117749205	0.016000	0.18221	0.098000	0.21074	0.001000	0.01503	1.149000	0.31626	0.839000	0.34971	-0.274000	0.10170	GTG	ROS1	-	NULL	ENSG00000047936		0.398	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	251	0.00	0	A			117642512	117642512	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	missense	176	15.79	33	SNP	0.003	C
ROS1	6098	genome.wustl.edu	37	6	117711008	117711008	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:117711008A>C	ENST00000368508.3	-	12	1462	c.1264T>G	c.(1264-1266)Tat>Gat	p.Y422D	ROS1_ENST00000368507.3_Splice_Site_p.Y431D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	422					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TAAAAGACATACCTGACACAG	0.448			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													41.0	42.0	41.0					6																	117711008		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1263-1T>G	6.37:g.117711008A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.Y422D	ENST00000368508.3	37	c.1264	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	A	15.95	2.985390	0.53934	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91464	-2.85;-2.85	5.82	5.82	0.92795	.	0.229156	0.31747	N	0.007133	D	0.89986	0.6874	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.92081	0.5672	10	0.72032	D	0.01	.	13.9134	0.63881	1.0:0.0:0.0:0.0	.	422	P08922	ROS1_HUMAN	D	422;431	ENSP00000357494:Y422D;ENSP00000357493:Y431D	ENSP00000357493:Y431D	Y	-	1	0	ROS1	117817701	1.000000	0.71417	0.996000	0.52242	0.480000	0.33159	6.490000	0.73645	2.224000	0.72417	0.459000	0.35465	TAT	ROS1	-	NULL	ENSG00000047936		0.448	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	120	0.00	0	A		Missense_Mutation	117711008	117711008	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	missense	73	18.89	17	SNP	1.000	C
RP1L1	94137	genome.wustl.edu	37	8	10465893	10465893	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:10465893A>C	ENST00000382483.3	-	4	5938	c.5715T>G	c.(5713-5715)ggT>ggG	p.G1905G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1985					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGCTTCTGCACCTTCTGACT	0.592																																						dbGAP											0													140.0	157.0	151.0					8																	10465893		2006	4171	6177	-	-	-	SO:0001819	synonymous_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5715T>G	8.37:g.10465893A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G1905	ENST00000382483.3	37	c.5715	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.592	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	425	0.92	4	A			10465893	10465893	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	silent	283	17.10	59	SNP	0.000	C
RP1L1	94137	genome.wustl.edu	37	8	10466145	10466145	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:10466145T>C	ENST00000382483.3	-	4	5686	c.5463A>G	c.(5461-5463)ggA>ggG	p.G1821G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1901					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTGGTCACCTCCTGCCGCAG	0.617																																						dbGAP											0													160.0	182.0	175.0					8																	10466145		2091	4212	6303	-	-	-	SO:0001819	synonymous_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5463A>G	8.37:g.10466145T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G1821	ENST00000382483.3	37	c.5463	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	370	0.54	2	T			10466145	10466145	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	silent	260	16.13	50	SNP	0.000	C
RP1L1	94137	genome.wustl.edu	37	8	10466253	10466253	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:10466253A>C	ENST00000382483.3	-	4	5578	c.5355T>G	c.(5353-5355)agT>agG	p.S1785R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1865					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCCAACTCACTGCCCGCAC	0.557																																						dbGAP											0													186.0	200.0	195.0					8																	10466253		2058	4207	6265	-	-	-	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5355T>G	8.37:g.10466253A>C	ENSP00000371923:p.Ser1785Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S1785R	ENST00000382483.3	37	c.5355	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	A	3.920	-0.018317	0.07681	.	.	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.07	-7.73	0.01245	.	.	.	.	.	T	0.02727	0.0082	N	0.24115	0.695	0.09310	N	1	B	0.17852	0.024	B	0.20767	0.031	T	0.45396	-0.9264	9	0.27785	T	0.31	9.3552	5.8252	0.18550	0.6433:0.1146:0.1379:0.1043	.	1785	A6NKC6	.	R	1785	ENSP00000371923:S1785R	ENSP00000371923:S1785R	S	-	3	2	RP1L1	10503663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.211000	0.00556	-1.412000	0.02030	-1.608000	0.00805	AGT	RP1L1	-	NULL	ENSG00000183638		0.557	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	299	0.33	1	A			10466253	10466253	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	missense	190	12.79	28	SNP	0.000	C
RPAP1	26015	genome.wustl.edu	37	15	41827724	41827724	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:41827724A>C	ENST00000304330.4	-	5	643	c.527T>G	c.(526-528)gTg>gGg	p.V176G	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.V176G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	176						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGTGGGCCCACGTTGGGCAC	0.512																																						dbGAP											0													76.0	79.0	78.0					15																	41827724		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.527T>G	15.37:g.41827724A>C	ENSP00000306123:p.Val176Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.V176G	ENST00000304330.4	37	c.527	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543018	0.27563	.	.	ENSG00000103932	ENST00000304330	T	0.12147	2.71	5.08	-1.51	0.08664	.	1.176390	0.06192	N	0.681462	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.40308	-0.9570	10	0.72032	D	0.01	-3.7902	3.9395	0.09321	0.4889:0.0:0.3407:0.1704	.	176	Q9BWH6	RPAP1_HUMAN	G	176	ENSP00000306123:V176G	ENSP00000306123:V176G	V	-	2	0	RPAP1	39615016	0.000000	0.05858	0.011000	0.14972	0.402000	0.30811	-0.031000	0.12287	-0.063000	0.13065	0.402000	0.26972	GTG	RPAP1	-	NULL	ENSG00000103932		0.512	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	109	0.90	1	A	NM_015540		41827724	41827724	-1	no_errors	ENST00000304330	ensembl	human	known	69_37n	missense	153	10.53	18	SNP	0.007	C
RPH3A	22895	genome.wustl.edu	37	12	113285524	113285524	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:113285524A>C	ENST00000389385.4	+	5	604	c.107A>C	c.(106-108)cAc>cCc	p.H36P	RPH3A_ENST00000551052.1_Missense_Mutation_p.H32P|RPH3A_ENST00000420983.2_Missense_Mutation_p.H36P|RPH3A_ENST00000415485.3_Missense_Mutation_p.H36P|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.H36P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	36					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGTCCGTCCACCCCGGTGGT	0.522																																						dbGAP											0													67.0	64.0	65.0					12																	113285524		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.107A>C	12.37:g.113285524A>C	ENSP00000374036:p.His36Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.H36P	ENST00000389385.4	37	c.107	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205837	0.39003	.	.	ENSG00000089169	ENST00000549736;ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	T;T;T;T;T	0.64260	-0.01;-0.01;-0.09;-0.01;-0.01	5.07	5.07	0.68467	Rabphilin-3A effector, zinc-binding (1);	0.099843	0.43110	D	0.000607	T	0.69088	0.3072	M	0.71036	2.16	0.34051	D	0.656168	P;P;P	0.36789	0.57;0.57;0.514	P;P;B	0.48114	0.567;0.567;0.431	T	0.79940	-0.1591	10	0.72032	D	0.01	.	9.2941	0.37804	0.9142:0.0:0.0858:0.0	.	36;36;32	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	P	36;36;36;36;36;36;36;36;36;36;36;36;36;32;36;36;36	ENSP00000440384:H36P;ENSP00000374036:H36P;ENSP00000448297:H32P;ENSP00000405357:H36P;ENSP00000408889:H36P	ENSP00000374036:H36P	H	+	2	0	RPH3A	111769907	0.860000	0.29831	0.434000	0.26772	0.034000	0.12701	2.676000	0.46883	2.017000	0.59298	0.533000	0.62120	CAC	RPH3A	-	pfam_Rabphilin3A_effector_Zn-bd	ENSG00000089169		0.522	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	72	0.00	0	A	NM_014954		113285524	113285524	+1	no_errors	ENST00000389385	ensembl	human	known	69_37n	missense	85	19.63	21	SNP	0.958	C
RPL12	6136	genome.wustl.edu	37	9	130210055	130210055	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130210055A>C	ENST00000361436.5	-	7	580				SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000536368.1_Intron|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGATTATCCCACCCCACCAGT	0.388																																						dbGAP											0													67.0	81.0	76.0					9																	130210055		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.493-50T>G	9.37:g.130210055A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVV2|Q6PB27	RNA	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			RPL12	-	-	ENSG00000197958		0.388	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	344	0.58	2	A			130210055	130210055	-1	no_errors	ENST00000497322	ensembl	human	known	69_37n	rna	224	21.68	62	SNP	0.000	C
RPL12	6136	genome.wustl.edu	37	9	130210060	130210060	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130210060A>C	ENST00000361436.5	-	7	580				SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000536368.1_Intron|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCCCACCCCACCAGTAACCA	0.393																																						dbGAP											0													41.0	41.0	41.0					9																	130210060		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.493-55T>G	9.37:g.130210060A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVV2|Q6PB27	RNA	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			RPL12	-	-	ENSG00000197958		0.393	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	344	0.58	2	A			130210060	130210060	-1	no_errors	ENST00000497322	ensembl	human	known	69_37n	rna	237	17.71	51	SNP	0.000	C
RPL12	6136	genome.wustl.edu	37	9	130210124	130210124	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:130210124A>C	ENST00000361436.5	-	6	580				SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000536368.1_Intron|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCCCCCTTTCACCCCTACTGT	0.453																																						dbGAP											0													64.0	70.0	68.0					9																	130210124		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.492+31T>G	9.37:g.130210124A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVV2|Q6PB27	RNA	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			RPL12	-	-	ENSG00000197958		0.453	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	222	0.00	0	A			130210124	130210124	-1	no_errors	ENST00000497322	ensembl	human	known	69_37n	rna	161	11.05	20	SNP	0.000	C
RPL3	6122	genome.wustl.edu	37	22	39709673	39709673	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:39709673A>C	ENST00000216146.4	-	8	1186	c.1013T>G	c.(1012-1014)gTg>gGg	p.V338G	SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.V286G|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	338					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTTGGTTCCCACCACACAGCC	0.577																																						dbGAP											0													231.0	234.0	233.0					22																	39709673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1013T>G	22.37:g.39709673A>C	ENSP00000346001:p.Val338Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.V338G	ENST00000216146.4	37	c.1013	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551667	0.86127	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.43688	0.94;0.94	5.56	5.56	0.83823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.054637	0.64402	D	0.000001	T	0.60431	0.2268	M	0.86343	2.81	0.80722	D	1	B;B;B;B	0.34061	0.436;0.382;0.197;0.391	B;B;B;P	0.45119	0.405;0.283;0.386;0.47	T	0.63075	-0.6718	10	0.42905	T	0.14	.	15.7132	0.77646	1.0:0.0:0.0:0.0	.	309;286;338;289	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	G	286;338	ENSP00000386101:V286G;ENSP00000346001:V338G	ENSP00000346001:V338G	V	-	2	0	RPL3	38039619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.120000	0.65058	0.459000	0.35465	GTG	RPL3	-	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000100316		0.577	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	189	0.00	0	A	NM_000967		39709673	39709673	-1	no_errors	ENST00000216146	ensembl	human	known	69_37n	missense	119	14.39	20	SNP	1.000	C
RPL3	6122	genome.wustl.edu	37	22	39713577	39713577	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:39713577A>C	ENST00000216146.4	-	3	427	c.254T>G	c.(253-255)gTg>gGg	p.V85G	SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.V33G|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	85					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GCCCACAACCACCATGGGTGG	0.532																																						dbGAP											0													132.0	128.0	129.0					22																	39713577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.254T>G	22.37:g.39713577A>C	ENSP00000346001:p.Val85Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.V85G	ENST00000216146.4	37	c.254	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	A	26.9	4.783818	0.90282	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527;ENST00000453303	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.2	5.2	0.72013	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.176302	0.49916	D	0.000130	T	0.69097	0.3073	M	0.89095	3.005	0.80722	D	1	P;P;B	0.51653	0.947;0.849;0.391	P;P;B	0.56563	0.801;0.616;0.367	T	0.76860	-0.2803	10	0.87932	D	0	.	15.0589	0.71936	1.0:0.0:0.0:0.0	.	56;85;85	Q8TBW1;P39023;B3KS36	.;RL3_HUMAN;.	G	33;85;33;112	ENSP00000386101:V33G;ENSP00000346001:V85G;ENSP00000385762:V33G;ENSP00000415198:V112G	ENSP00000346001:V85G	V	-	2	0	RPL3	38043523	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.821000	0.92009	1.972000	0.57404	0.459000	0.35465	GTG	RPL3	-	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000100316		0.532	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	104	0.95	1	A	NM_000967		39713577	39713577	-1	no_errors	ENST00000216146	ensembl	human	known	69_37n	missense	94	17.54	20	SNP	1.000	C
RPL7L1	285855	genome.wustl.edu	37	6	42854090	42854090	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:42854090A>C	ENST00000493763.1	+	6	932	c.629A>C	c.(628-630)cAc>cCc	p.H210P	RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000424341.2_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.H210P	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	210						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TGCCCTTTCCACCTCTCAGTG	0.507																																						dbGAP											0													107.0	111.0	110.0					6																	42854090		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.629A>C	6.37:g.42854090A>C	ENSP00000418221:p.His210Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.H210P	ENST00000493763.1	37	c.629	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	A	12.24	1.877357	0.33162	.	.	ENSG00000146223	ENST00000493763;ENST00000304734	.	.	.	5.56	1.45	0.22620	Ribosomal protein L30, ferredoxin-like fold domain (2);	1.134870	0.06216	N	0.685836	T	0.21550	0.0519	L	0.58925	1.835	0.25453	N	0.987981	B	0.02656	0.0	B	0.04013	0.001	T	0.33879	-0.9851	9	0.62326	D	0.03	.	3.1727	0.06558	0.6157:0.177:0.0826:0.1247	.	210	Q6DKI1	RL7L_HUMAN	P	210	.	ENSP00000346063:H210P	H	+	2	0	RPL7L1	42962068	0.593000	0.26840	0.539000	0.28077	0.974000	0.67602	1.312000	0.33574	0.470000	0.27294	0.529000	0.55759	CAC	RPL7L1	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	ENSG00000146223		0.507	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	55	0.00	0	A	XM_209769		42854090	42854090	+1	no_errors	ENST00000304734	ensembl	human	known	69_37n	missense	48	24.62	16	SNP	0.031	C
RPN2	6185	genome.wustl.edu	37	20	35856996	35856996	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:35856996T>G	ENST00000237530.6	+	12	1654	c.1343T>G	c.(1342-1344)gTg>gGg	p.V448G	RPN2_ENST00000373622.5_Missense_Mutation_p.V416G	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	448					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGGAAGTGGTGTTTGTTGCC	0.438																																						dbGAP											0													114.0	108.0	110.0					20																	35856996		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1343T>G	20.37:g.35856996T>G	ENSP00000237530:p.Val448Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	pfam_Ribophorin_II	p.V448G	ENST00000237530.6	37	c.1343	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697271	0.88830	.	.	ENSG00000118705	ENST00000237530;ENST00000373622	T;T	0.53206	0.63;0.63	5.55	5.55	0.83447	.	0.056270	0.64402	D	0.000001	T	0.65101	0.2659	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.63880	0.992;0.983;0.987;0.993	P;P;P;D	0.68765	0.905;0.872;0.872;0.96	T	0.66200	-0.5983	10	0.51188	T	0.08	-13.0847	13.6922	0.62553	0.0:0.0:0.0:1.0	.	323;416;448;448	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	G	448;416	ENSP00000237530:V448G;ENSP00000362724:V416G	ENSP00000237530:V448G	V	+	2	0	RPN2	35290410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.525000	0.81892	2.326000	0.78906	0.533000	0.62120	GTG	RPN2	-	pfam_Ribophorin_II	ENSG00000118705		0.438	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	58	0.00	0	T	NM_002951		35856996	35856996	+1	no_errors	ENST00000237530	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	1.000	G
RPRD2	23248	genome.wustl.edu	37	1	150443734	150443734	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:150443734A>C	ENST00000369068.4	+	11	2314	c.2310A>C	c.(2308-2310)ccA>ccC	p.P770P	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.P744P|RPRD2_ENST00000539519.1_Silent_p.P744P	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	770	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAGATCACCACCCCCTGGGA	0.498																																						dbGAP											0													84.0	83.0	83.0					1																	150443734		1950	4147	6097	-	-	-	SO:0001819	synonymous_variant	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2310A>C	1.37:g.150443734A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.P770	ENST00000369068.4	37	c.2310	CCDS44216.1	1																																																																																			RPRD2	-	NULL	ENSG00000163125		0.498	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	109	0.00	0	A	NM_015203		150443734	150443734	+1	no_errors	ENST00000369068	ensembl	human	known	69_37n	silent	205	17.67	44	SNP	0.995	C
RPS14	6208	genome.wustl.edu	37	5	149826502	149826502	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:149826502A>C	ENST00000401695.3	-	3	220	c.174T>G	c.(172-174)ggT>ggG	p.G58G	RPS14_ENST00000407193.1_Silent_p.G58G|RPS14_ENST00000312037.5_Silent_p.G58G			P62263	RS14_HUMAN	ribosomal protein S14	58					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTCATCCCACCAGTCACAC	0.527																																						dbGAP											0													112.0	95.0	101.0					5																	149826502		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.174T>G	5.37:g.149826502A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5G5|D3DQG5|P06366|Q5BJI0	Silent	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.G58	ENST00000401695.3	37	c.174	CCDS4307.1	5																																																																																			RPS14	-	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	ENSG00000164587		0.527	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	108	0.92	1	A	NM_001025071		149826502	149826502	-1	no_errors	ENST00000312037	ensembl	human	known	69_37n	silent	137	16.97	28	SNP	1.000	C
RREB1	6239	genome.wustl.edu	37	6	7211829	7211829	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:7211829T>G	ENST00000349384.6	+	8	908	c.594T>G	c.(592-594)ggT>ggG	p.G198G	RREB1_ENST00000379938.2_Silent_p.G198G|RREB1_ENST00000334984.6_Silent_p.G198G|RREB1_ENST00000379933.3_Silent_p.G198G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	198					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCAGTCAGGTGACTTGGAGA	0.473																																						dbGAP											0													127.0	119.0	122.0					6																	7211829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.594T>G	6.37:g.7211829T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G198	ENST00000349384.6	37	c.594	CCDS34336.1	6																																																																																			RREB1	-	NULL	ENSG00000124782		0.473	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	67	0.00	0	T			7211829	7211829	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	silent	56	20.00	14	SNP	0.262	G
RREB1	6239	genome.wustl.edu	37	6	7229820	7229820	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:7229820A>C	ENST00000349384.6	+	10	1802	c.1488A>C	c.(1486-1488)ccA>ccC	p.P496P	RREB1_ENST00000379938.2_Silent_p.P496P|RREB1_ENST00000334984.6_Silent_p.P496P|RREB1_ENST00000379933.3_Silent_p.P496P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	496	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGCCGCCCCACTGCAGGCGA	0.642																																						dbGAP											0													125.0	145.0	138.0					6																	7229820		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1488A>C	6.37:g.7229820A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P496	ENST00000349384.6	37	c.1488	CCDS34336.1	6																																																																																			RREB1	-	NULL	ENSG00000124782		0.642	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	171	0.58	1	A			7229820	7229820	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	silent	89	17.59	19	SNP	0.046	C
RSC1A1	6248	genome.wustl.edu	37	1	15988079	15988079	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:15988079T>C	ENST00000345034.1	+	1	1716	c.1716T>C	c.(1714-1716)ttT>ttC	p.F572F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	572	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATTGATTTTTCCTGCCACAG	0.478																																						dbGAP											0													225.0	205.0	211.0					1																	15988079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1716T>C	1.37:g.15988079T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBP5	Silent	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.F572	ENST00000345034.1	37	c.1716	CCDS161.1	1																																																																																			RSC1A1	-	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000215695		0.478	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	171	0.58	1	T	NM_006511		15988079	15988079	+1	no_errors	ENST00000345034	ensembl	human	known	69_37n	silent	144	16.28	28	SNP	1.000	C
RSPH1	89765	genome.wustl.edu	37	21	43896156	43896156	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:43896156A>C	ENST00000291536.3	-	8	896	c.729T>G	c.(727-729)agT>agG	p.S243R	RSPH1_ENST00000398352.3_Splice_Site_p.S205R	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	243					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTTCTCCTGCACCTGAGATAA	0.617																																					Esophageal Squamous(23;63 706 6286 10288 12913)	dbGAP											0													54.0	53.0	53.0					21																	43896156		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.728-1T>G	21.37:g.43896156A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.S243R	ENST00000291536.3	37	c.729	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	A	7.774	0.708009	0.15239	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.58358	0.34;0.35	2.96	-5.92	0.02261	.	7.757440	0.00465	U	0.000108	T	0.32315	0.0825	N	0.19112	0.55	0.09310	N	1	B	0.22604	0.072	B	0.15484	0.013	T	0.12142	-1.0559	10	0.21014	T	0.42	.	6.2224	0.20689	0.5581:0.2686:0.1734:0.0	.	243	Q8WYR4	RSPH1_HUMAN	R	243;205	ENSP00000291536:S243R;ENSP00000381395:S205R	ENSP00000291536:S243R	S	-	3	2	RSPH1	42769225	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.441000	0.00470	-1.862000	0.01151	-0.912000	0.02778	AGT	RSPH1	-	NULL	ENSG00000160188		0.617	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	36	0.00	0	A		Missense_Mutation	43896156	43896156	-1	no_errors	ENST00000291536	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.000	C
RSPH9	221421	genome.wustl.edu	37	6	43623404	43623404	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43623404A>C	ENST00000372163.4	+	3	552	c.499A>C	c.(499-501)Acc>Ccc	p.T167P	RSPH9_ENST00000372165.4_Missense_Mutation_p.T152P	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	167					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTTTGGACCCACCCATGTCAA	0.552									Kartagener syndrome																													dbGAP											0													143.0	146.0	145.0					6																	43623404		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.499A>C	6.37:g.43623404A>C	ENSP00000361236:p.Thr167Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T4|Q96NH9	Missense_Mutation	SNP	NULL	p.T152P	ENST00000372163.4	37	c.454	CCDS4905.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.18|16.18	3.049324|3.049324	0.55218|0.55218	.|.	.|.	ENSG00000172426|ENSG00000172426	ENST00000417236|ENST00000372165;ENST00000372163;ENST00000372154	.|T	.|0.43294	.|0.95	5.58|5.58	-1.07|-1.07	0.09968|0.09968	.|.	.|0.460627	.|0.23797	.|N	.|0.044463	T|T	0.14356|0.14356	0.0347|0.0347	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;P	.|0.53619	.|0.961;0.839	.|P;B	.|0.46144	.|0.505;0.42	T|T	0.14200|0.14200	-1.0481|-1.0481	5|10	.|0.72032	.|D	.|0.01	-18.5165|-18.5165	5.2816|5.2816	0.15678|0.15678	0.3061:0.0:0.5142:0.1797|0.3061:0.0:0.5142:0.1797	.|.	.|152;167	.|Q96NH9;Q9H1X1	.|.;RSPH9_HUMAN	P|P	91|152;167;135	.|ENSP00000361236:T167P	.|ENSP00000361227:T135P	H|T	+|+	2|1	0|0	RSPH9|RSPH9	43731382|43731382	0.023000|0.023000	0.18921|0.18921	0.003000|0.003000	0.11579|0.11579	0.992000|0.992000	0.81027|0.81027	1.160000|1.160000	0.31761|0.31761	-0.134000|-0.134000	0.11516|0.11516	0.482000|0.482000	0.46254|0.46254	CAC|ACC	RSPH9	-	NULL	ENSG00000172426		0.552	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH9	HGNC	protein_coding	OTTHUMT00000040690.1	257	0.77	2	A	NM_152732		43623404	43623404	+1	no_errors	ENST00000372165	ensembl	human	known	69_37n	missense	306	14.64	53	SNP	0.004	C
RSPH4A	345895	genome.wustl.edu	37	6	116949424	116949424	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:116949424T>G	ENST00000229554.5	+	3	1691	c.1554T>G	c.(1552-1554)ggT>ggG	p.G518G	RSPH4A_ENST00000368581.4_Silent_p.G518G|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	518	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCAGAAGGTGGGCGAAATA	0.453									Kartagener syndrome																													dbGAP											0													111.0	115.0	114.0					6																	116949424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1554T>G	6.37:g.116949424T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSI1|Q3KP24|Q5TD95	Silent	SNP	pfam_Radial_spoke	p.G518	ENST00000229554.5	37	c.1554	CCDS34521.1	6																																																																																			RSPH4A	-	pfam_Radial_spoke	ENSG00000111834		0.453	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	267	0.00	0	T	NM_001010892		116949424	116949424	+1	no_errors	ENST00000229554	ensembl	human	known	69_37n	silent	194	18.49	44	SNP	0.001	G
RSRC1	51319	genome.wustl.edu	37	3	157920910	157920910	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:157920910T>G	ENST00000295930.3	+	4	532	c.370T>G	c.(370-372)Tcc>Gcc	p.S124A	RSRC1_ENST00000480820.1_Missense_Mutation_p.S124A|RSRC1_ENST00000475278.2_Missense_Mutation_p.S124A|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	124	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			CAGTGAAAGGTCCAGTCACAG	0.433																																						dbGAP											0													108.0	108.0	108.0					3																	157920910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.370T>G	3.37:g.157920910T>G	ENSP00000295930:p.Ser124Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	NULL	p.S124A	ENST00000295930.3	37	c.370	CCDS3181.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.787|5.787	0.329496|0.329496	0.10956|0.10956	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.04|5.04	3.89|3.89	0.44902|0.44902	.|.	0.343651|.	0.30850|.	N|.	0.008750|.	T|T	0.60818|0.60818	0.2298|0.2298	M|M	0.65498|0.65498	2.005|2.005	0.41321|0.41321	D|D	0.98717|0.98717	B|.	0.28291|.	0.206|.	B|.	0.30401|.	0.115|.	T|T	0.58526|0.58526	-0.7621|-0.7621	9|5	0.52906|.	T|.	0.07|.	.|.	6.2234|6.2234	0.20693|0.20693	0.1427:0.0793:0.0:0.778|0.1427:0.0793:0.0:0.778	.|.	124|.	Q96IZ7|.	RSRC1_HUMAN|.	A|G	124|17	.|.	ENSP00000295930:S124A|.	S|V	+|+	1|2	0|0	RSRC1|RSRC1	159403604|159403604	0.997000|0.997000	0.39634|0.39634	0.994000|0.994000	0.49952|0.49952	0.941000|0.941000	0.58515|0.58515	2.789000|2.789000	0.47813|0.47813	0.889000|0.889000	0.36185|0.36185	0.482000|0.482000	0.46254|0.46254	TCC|GTC	RSRC1	-	NULL	ENSG00000174891		0.433	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC1	HGNC	protein_coding	OTTHUMT00000352063.2	81	0.00	0	T	NM_016625		157920910	157920910	+1	no_errors	ENST00000295930	ensembl	human	known	69_37n	missense	55	23.61	17	SNP	0.997	G
RTN1	6252	genome.wustl.edu	37	14	60212606	60212606	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:60212606T>G	ENST00000267484.5	-	2	1170	c.835A>C	c.(835-837)Acc>Ccc	p.T279P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	279					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGACAGGGGTGGTGATCTGA	0.448																																						dbGAP											0													124.0	118.0	120.0					14																	60212606		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.835A>C	14.37:g.60212606T>G	ENSP00000267484:p.Thr279Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.T279P	ENST00000267484.5	37	c.835	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	T	8.620	0.891121	0.17613	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24350	1.86	5.53	3.7	0.42460	.	0.224065	0.46145	D	0.000301	T	0.16214	0.0390	N	0.22421	0.69	0.25014	N	0.991381	B	0.31730	0.337	B	0.26770	0.073	T	0.13202	-1.0518	10	0.72032	D	0.01	.	10.2916	0.43599	0.0:0.7776:0.0:0.2224	.	279	Q16799	RTN1_HUMAN	P	279;205	ENSP00000267484:T279P	ENSP00000267484:T279P	T	-	1	0	RTN1	59282359	0.096000	0.21769	0.515000	0.27774	0.154000	0.21943	0.959000	0.29240	0.677000	0.31305	-0.479000	0.04858	ACC	RTN1	-	NULL	ENSG00000139970		0.448	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	306	0.33	1	T			60212606	60212606	-1	no_errors	ENST00000267484	ensembl	human	known	69_37n	missense	231	15.27	42	SNP	0.850	G
RUFY2	55680	genome.wustl.edu	37	10	70139109	70139110	+	Intron	INS	-	-	G	rs370066429		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:70139109_70139110insG	ENST00000602465.1	-	12	1306				RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000388768.2_Intron			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2							nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TTTTTGTGGCAGGTGTAGGAAC	0.386																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1205+70->C	10.37:g.70139111_70139111dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	RNA	INS	-	NULL	ENST00000602465.1	37	NULL		10																																																																																			RUFY2	-	-	ENSG00000204130		0.386	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	41	0.00	0	-	NM_017987		70139109	70139110	-1	no_errors	ENST00000491118	ensembl	human	known	69_37n	rna	51	10.53	6	INS	1.000:0.997	G
RUSC2	9853	genome.wustl.edu	37	9	35558518	35558518	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35558518A>C	ENST00000455600.1	+	8	3864	c.3295A>C	c.(3295-3297)Acc>Ccc	p.T1099P		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1099	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGAGCTCACCAGTCATAC	0.567																																						dbGAP											0													264.0	212.0	230.0					9																	35558518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3295A>C	9.37:g.35558518A>C	ENSP00000393922:p.Thr1099Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.T1099P	ENST00000455600.1	37	c.3295	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933622	0.73442	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.30448	1.53;1.53	5.48	5.48	0.80851	RUN (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.61703	1.905	0.48288	D	0.999627	D	0.76494	0.999	D	0.75020	0.985	T	0.51529	-0.8694	10	0.66056	D	0.02	-20.5642	10.0482	0.42199	0.8499:0.0:0.0:0.1501	.	1099	Q8N2Y8	RUSC2_HUMAN	P	1099	ENSP00000355177:T1099P;ENSP00000393922:T1099P	ENSP00000355177:T1099P	T	+	1	0	RUSC2	35548518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.993000	0.63895	2.092000	0.63282	0.533000	0.62120	ACC	RUSC2	-	pfam_Run,pfscan_Run	ENSG00000198853		0.567	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	273	0.73	2	A	XM_048462		35558518	35558518	+1	no_errors	ENST00000361226	ensembl	human	known	69_37n	missense	191	14.67	33	SNP	1.000	C
RYR1	6261	genome.wustl.edu	37	19	38948813	38948813	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:38948813T>G	ENST00000359596.3	+	18	2048	c.2048T>G	c.(2047-2049)gTg>gGg	p.V683G	RYR1_ENST00000360985.3_Missense_Mutation_p.V683G|RYR1_ENST00000355481.4_Missense_Mutation_p.V683G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	683	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACTTGCGGGTGGGCTGGGCC	0.642																																						dbGAP											0													59.0	54.0	56.0					19																	38948813		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2048T>G	19.37:g.38948813T>G	ENSP00000352608:p.Val683Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V683G	ENST00000359596.3	37	c.2048	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421695	0.62622	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.80214	-1.35;-1.35;-1.35	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000014	D	0.91680	0.7370	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	D	0.93623	0.6949	10	0.87932	D	0	.	14.6028	0.68453	0.0:0.0:0.0:1.0	.	683;683	P21817-2;P21817	.;RYR1_HUMAN	G	683	ENSP00000352608:V683G;ENSP00000347667:V683G;ENSP00000354254:V683G	ENSP00000347667:V683G	V	+	2	0	RYR1	43640653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.119000	0.64992	0.449000	0.29647	GTG	RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000196218		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	209	0.95	2	T			38948813	38948813	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	137	20.57	36	SNP	1.000	G
RYR2	6262	genome.wustl.edu	37	1	237617789	237617789	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:237617789A>C	ENST00000366574.2	+	15	1708	c.1391A>C	c.(1390-1392)cAc>cCc	p.H464P	RYR2_ENST00000360064.6_Missense_Mutation_p.H462P|RYR2_ENST00000542537.1_Missense_Mutation_p.H448P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	464					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTACTTCCACCCCCCAGAT	0.488																																						dbGAP											0													76.0	75.0	75.0					1																	237617789		1921	4126	6047	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1391A>C	1.37:g.237617789A>C	ENSP00000355533:p.His464Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.H462P	ENST00000366574.2	37	c.1385	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	9.451	1.090710	0.20471	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89050	-2.46;-2.46;-2.46	5.8	5.8	0.92144	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000006	D	0.86855	0.6033	N	0.14661	0.345	0.80722	D	1	D	0.59357	0.985	P	0.54590	0.756	D	0.87899	0.2689	10	0.42905	T	0.14	.	16.1563	0.81670	1.0:0.0:0.0:0.0	.	464	Q92736	RYR2_HUMAN	P	464;462;448	ENSP00000355533:H464P;ENSP00000353174:H462P;ENSP00000443798:H448P	ENSP00000353174:H462P	H	+	2	0	RYR2	235684412	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	6.206000	0.72154	2.217000	0.71921	0.450000	0.29827	CAC	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	122	0.81	1	A	NM_001035		237617789	237617789	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	170	13.27	26	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237756828	237756828	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:237756828T>G	ENST00000366574.2	+	33	4645	c.4328T>G	c.(4327-4329)gTg>gGg	p.V1443G	RYR2_ENST00000360064.6_Missense_Mutation_p.V1441G|RYR2_ENST00000542537.1_Missense_Mutation_p.V1427G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1443	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGTCTGGGTGGGCTGGATT	0.398																																						dbGAP											0													107.0	99.0	102.0					1																	237756828		1903	4119	6022	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4328T>G	1.37:g.237756828T>G	ENSP00000355533:p.Val1443Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1441G	ENST00000366574.2	37	c.4322	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582957	0.86748	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69306	-0.39;-0.39;-0.39	5.26	5.26	0.73747	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.205916	0.29587	N	0.011724	T	0.80513	0.4637	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.82559	-0.0397	10	0.66056	D	0.02	.	15.34	0.74287	0.0:0.0:0.0:1.0	.	1443	Q92736	RYR2_HUMAN	G	1443;1441;1427	ENSP00000355533:V1443G;ENSP00000353174:V1441G;ENSP00000443798:V1427G	ENSP00000353174:V1441G	V	+	2	0	RYR2	235823451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.864000	0.87037	2.201000	0.70794	0.528000	0.53228	GTG	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	141	0.00	0	T	NM_001035		237756828	237756828	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	150	17.49	32	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	33928600	33928600	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:33928600T>G	ENST00000389232.4	+	27	3475	c.3405T>G	c.(3403-3405)agT>agG	p.S1135R	RYR3_ENST00000415757.3_Missense_Mutation_p.S1135R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1135	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAAGGAAGTGGGTATTTTG	0.502																																						dbGAP											0													195.0	195.0	195.0					15																	33928600		2046	4198	6244	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3405T>G	15.37:g.33928600T>G	ENSP00000373884:p.Ser1135Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S1135R	ENST00000389232.4	37	c.3405	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636305	0.47049	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68624	-0.34;-0.34	5.35	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	N	0.25789	0.76	0.50467	D	0.999877	D;D	0.58970	0.98;0.984	P;P	0.57679	0.731;0.825	T	0.66143	-0.5997	10	0.54805	T	0.06	.	9.9327	0.41532	0.0:0.1408:0.0:0.8592	.	1135;1135	Q15413-2;Q15413	.;RYR3_HUMAN	R	1135	ENSP00000373884:S1135R;ENSP00000399610:S1135R	ENSP00000354735:S1135R	S	+	3	2	RYR3	31715892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.189000	0.32114	1.165000	0.42670	0.533000	0.62120	AGT	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	317	0.31	1	T			33928600	33928600	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	218	10.89	27	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	33941337	33941337	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:33941337T>G	ENST00000389232.4	+	31	4113	c.4043T>G	c.(4042-4044)gTg>gGg	p.V1348G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1348G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1348	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCGGATGGGTGACTCCAGAC	0.537																																						dbGAP											0													122.0	124.0	123.0					15																	33941337		1970	4157	6127	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4043T>G	15.37:g.33941337T>G	ENSP00000373884:p.Val1348Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1348G	ENST00000389232.4	37	c.4043	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507240	0.85282	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.59638	0.25;0.25	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000001	T	0.75895	0.3912	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.969	T	0.79722	-0.1684	10	0.87932	D	0	.	15.1895	0.73032	0.0:0.0:0.0:1.0	.	1348;1348	Q15413-2;Q15413	.;RYR3_HUMAN	G	1348	ENSP00000373884:V1348G;ENSP00000399610:V1348G	ENSP00000354735:V1348G	V	+	2	0	RYR3	31728629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.820000	0.86633	2.185000	0.69588	0.528000	0.53228	GTG	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	109	0.00	0	T			33941337	33941337	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	34147040	34147040	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:34147040A>C	ENST00000389232.4	+	98	14004	c.13934A>C	c.(13933-13935)cAc>cCc	p.H4645P	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.H4640P|RP11-3D4.3_ENST00000560404.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4645					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTGCTGCTCACCTATTGGAC	0.448																																						dbGAP											0													219.0	205.0	209.0					15																	34147040		2003	4193	6196	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13934A>C	15.37:g.34147040A>C	ENSP00000373884:p.His4645Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.H4645P	ENST00000389232.4	37	c.13934	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268902	0.80469	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98493	-4.96	4.72	4.72	0.59763	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	M	0.92507	3.315	0.58432	D	0.999998	D;D	0.89917	0.996;1.0	D;D	0.91635	0.984;0.999	D	0.99312	1.0904	10	0.72032	D	0.01	.	14.6519	0.68803	1.0:0.0:0.0:0.0	.	4640;4645	Q15413-2;Q15413	.;RYR3_HUMAN	P	4645;4641	ENSP00000373884:H4645P	ENSP00000354735:H4641P	H	+	2	0	RYR3	31934332	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.937000	0.92936	2.103000	0.63969	0.477000	0.44152	CAC	RYR3	-	pfam_Ion_trans_dom	ENSG00000198838		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	263	0.38	1	A			34147040	34147040	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	212	13.71	34	SNP	1.000	C
S100A1	6271	genome.wustl.edu	37	1	153604391	153604391	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:153604391A>C	ENST00000292169.1	+	0	472				S100A13_ENST00000368699.1_Intron|S100A13_ENST00000491177.1_5'Flank|S100A1_ENST00000469893.1_3'UTR|RP1-178F15.4_ENST00000607839.1_RNA|CHTOP_ENST00000368694.3_5'Flank|S100A1_ENST00000368698.3_3'UTR|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|CHTOP_ENST00000403433.1_5'Flank	NM_006271.1	NP_006262.1	P23297	S10A1_HUMAN	S100 calcium binding protein A1						intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762)	M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	CTTccacctcaccccacttat	0.592																																					Ovarian(74;601 1703 10548 31787)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC014392	CCDS1047.1	1q21	2013-01-10	2001-11-28		ENSG00000160678	ENSG00000160678		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10486	protein-coding gene	gene with protein product		176940	"""S100 calcium-binding protein A1"""	S100A		1998503	Standard	NM_006271		Approved	S100-alpha	uc001fck.1	P23297	OTTHUMG00000037041	ENST00000292169.1:c.*74A>C	1.37:g.153604391A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5D9|Q5T7Y3	RNA	SNP	-	NULL	ENST00000292169.1	37	NULL	CCDS1047.1	1																																																																																			S100A1	-	-	ENSG00000160678		0.592	S100A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A1	HGNC	protein_coding	OTTHUMT00000089933.1	57	0.00	0	A	NM_006271		153604391	153604391	+1	no_errors	ENST00000469893	ensembl	human	known	69_37n	rna	69	25.53	24	SNP	0.000	C
SAAL1	113174	genome.wustl.edu	37	11	18112035	18112035	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:18112035A>C	ENST00000524803.1	-	5	468	c.419T>G	c.(418-420)gTg>gGg	p.V140G	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.V140G|SAAL1_ENST00000300013.4_Missense_Mutation_p.V140G			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	140										breast(2)|large_intestine(5)|lung(8)	15						GTGCAATAACACCTGCCTACA	0.333																																						dbGAP											0													44.0	45.0	45.0					11																	18112035		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.419T>G	11.37:g.18112035A>C	ENSP00000432487:p.Val140Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH05	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V140G	ENST00000524803.1	37	c.419	CCDS31439.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.73|16.73	3.204212|3.204212	0.58234|0.58234	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000530180|ENST00000524803;ENST00000300013;ENST00000531751;ENST00000529318	T|T;T;T;T	0.27890|0.44083	1.64|0.93;0.93;0.93;0.93	5.72|5.72	4.39|4.39	0.52855|0.52855	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.240601	.|0.40222	.|N	.|0.001152	T|T	0.43366|0.43366	0.1244|0.1244	L|L	0.61218|0.61218	1.895|1.895	0.53688|0.53688	D|D	0.999978|0.999978	.|P;P;P	.|0.41848	.|0.763;0.763;0.763	.|B;B;B	.|0.42422	.|0.387;0.387;0.387	T|T	0.49495|0.49495	-0.8934|-0.8934	6|10	.|0.87932	.|D	.|0	-8.6077|-8.6077	10.9103|10.9103	0.47106|0.47106	0.9171:0.0:0.0829:0.0|0.9171:0.0:0.0829:0.0	.|.	.|140;140;140	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	G|G	139|140;140;29;140	ENSP00000431489:C139G|ENSP00000432487:V140G;ENSP00000300013:V140G;ENSP00000436031:V29G;ENSP00000432216:V140G	.|ENSP00000300013:V140G	C|V	-|-	1|2	0|0	SAAL1|SAAL1	18068611|18068611	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.786000|0.786000	0.44442|0.44442	6.103000|6.103000	0.71492|0.71492	2.177000|2.177000	0.69029|0.69029	0.443000|0.443000	0.29094|0.29094	TGT|GTG	SAAL1	-	superfamily_ARM-type_fold	ENSG00000166788		0.333	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAAL1	HGNC	protein_coding	OTTHUMT00000389728.1	68	0.00	0	A	NM_138421		18112035	18112035	-1	no_errors	ENST00000524803	ensembl	human	known	69_37n	missense	46	24.59	15	SNP	0.986	C
SACS	26278	genome.wustl.edu	37	13	23927962	23927962	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:23927962T>G	ENST00000382292.3	-	8	2420	c.2147A>C	c.(2146-2148)cAc>cCc	p.H716P	SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.H716P			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	716					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCCACAAGGTGAGGTTTCAA	0.343																																						dbGAP											0													58.0	62.0	61.0					13																	23927962		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2147A>C	13.37:g.23927962T>G	ENSP00000371729:p.His716Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.H716P	ENST00000382292.3	37	c.2147	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161864	0.38217	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.16743	2.32;2.32;2.32	6.08	6.08	0.98989	.	0.371166	0.31884	N	0.006910	T	0.17195	0.0413	L	0.40543	1.245	0.30109	N	0.806715	B;B;B	0.34264	0.446;0.002;0.059	B;B;B	0.34346	0.18;0.006;0.055	T	0.06991	-1.0796	10	0.29301	T	0.29	.	16.3246	0.82970	0.0:0.0:0.0:1.0	.	615;503;716	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	P	716;716;340	ENSP00000371729:H716P;ENSP00000371735:H716P;ENSP00000390925:H340P	ENSP00000371729:H716P	H	-	2	0	SACS	22825962	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.020000	0.49643	2.333000	0.79357	0.482000	0.46254	CAC	SACS	-	NULL	ENSG00000151835		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	119	0.00	0	T	NM_014363		23927962	23927962	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	90	15.09	16	SNP	1.000	G
SACS	26278	genome.wustl.edu	37	13	23929123	23929123	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:23929123A>C	ENST00000382292.3	-	7	1901	c.1628T>G	c.(1627-1629)gTg>gGg	p.V543G	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.V543G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	543					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGCCAGTGCACCTTGACTTT	0.463																																						dbGAP											0													85.0	86.0	86.0					13																	23929123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1628T>G	13.37:g.23929123A>C	ENSP00000371729:p.Val543Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.V543G	ENST00000382292.3	37	c.1628	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	7.249	0.602750	0.13939	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.18338	2.22;2.22;2.22	5.74	-2.82	0.05787	.	0.584643	0.18536	N	0.138357	T	0.12433	0.0302	L	0.43152	1.355	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.12837	0.004;0.008;0.004	T	0.33111	-0.9881	10	0.19147	T	0.46	.	12.3891	0.55348	0.5116:0.0:0.4883:0.0	.	442;330;543	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	G	543;543;167	ENSP00000371729:V543G;ENSP00000371735:V543G;ENSP00000390925:V167G	ENSP00000371729:V543G	V	-	2	0	SACS	22827123	0.076000	0.21285	0.106000	0.21319	0.972000	0.66771	0.859000	0.27858	-0.643000	0.05473	0.459000	0.35465	GTG	SACS	-	NULL	ENSG00000151835		0.463	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	167	0.59	1	A	NM_014363		23929123	23929123	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	178	10.40	21	SNP	0.000	C
SAGE1	55511	genome.wustl.edu	37	X	134978440	134978440	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:134978440A>C	ENST00000370709.3	+	1	39	c.39A>C	c.(37-39)ccA>ccC	p.P13P	SAGE1_ENST00000535938.1_Silent_p.P13P|SAGE1_ENST00000537770.1_Silent_p.P13P|SAGE1_ENST00000324447.3_Silent_p.P13P			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	13						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AACCAACTCCACCTGAAGAAC	0.383																																						dbGAP											0													111.0	91.0	98.0					X																	134978440		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.39A>C	X.37:g.134978440A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Silent	SNP	NULL	p.P13	ENST00000370709.3	37	c.39	CCDS14652.1	X																																																																																			SAGE1	-	NULL	ENSG00000181433		0.383	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	179	0.56	1	A	NM_018666		134978440	134978440	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	silent	130	15.03	23	SNP	0.000	C
SALL1	6299	genome.wustl.edu	37	16	51171317	51171317	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:51171317A>C	ENST00000251020.4	-	3	3714	c.3681T>G	c.(3679-3681)agT>agG	p.S1227R	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.S1130R|SALL1_ENST00000541611.1_Missense_Mutation_p.S50R	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1227					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGGATCCCCACTTCCTGATC	0.557																																					GBM(103;1352 1446 1855 4775 8890)	dbGAP											0													64.0	58.0	60.0					16																	51171317		2198	4300	6498	-	-	-	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3681T>G	16.37:g.51171317A>C	ENSP00000251020:p.Ser1227Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1227R	ENST00000251020.4	37	c.3681	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	A	12.11	1.840139	0.32513	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.50548	0.74;0.74;0.74	5.53	-3.92	0.04155	.	0.041890	0.85682	D	0.000000	T	0.32645	0.0836	L	0.32530	0.975	0.29320	N	0.86742	B;B	0.27559	0.181;0.145	B;B	0.21708	0.036;0.033	T	0.26467	-1.0102	10	0.87932	D	0	.	14.803	0.69929	0.6751:0.0:0.3249:0.0	.	1227;50	Q9NSC2;F5H733	SALL1_HUMAN;.	R	1227;1130;1191;50	ENSP00000251020:S1227R;ENSP00000407914:S1130R;ENSP00000442827:S50R	ENSP00000251020:S1227R	S	-	3	2	SALL1	49728818	0.004000	0.15560	0.925000	0.36789	0.997000	0.91878	-0.737000	0.04877	-0.532000	0.06332	0.523000	0.50628	AGT	SALL1	-	NULL	ENSG00000103449		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	79	0.00	0	A	NM_002968		51171317	51171317	-1	no_errors	ENST00000251020	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.831	C
SAMD3	154075	genome.wustl.edu	37	6	130465948	130465948	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:130465948A>C	ENST00000368134.2	-	14	1888	c.1280T>G	c.(1279-1281)gTg>gGg	p.V427G	SAMD3_ENST00000457563.2_Splice_Site_p.V451G|SAMD3_ENST00000437477.2_Splice_Site_p.V427G|RP11-73O6.3_ENST00000609978.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000439090.2_Splice_Site_p.V427G	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	427										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGACACTTGCACCTGAAAAAA	0.363																																						dbGAP											0													30.0	31.0	31.0					6																	130465948		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1279-1T>G	6.37:g.130465948A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V427G	ENST00000368134.2	37	c.1280	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662400	0.29515	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000463253	T;T;T;T	0.52295	0.69;0.67;0.69;0.69	5.42	5.42	0.78866	.	0.222293	0.31519	N	0.007503	T	0.51244	0.1663	M	0.66939	2.045	0.80722	D	1	D	0.58268	0.982	P	0.55824	0.785	T	0.54497	-0.8285	10	0.48119	T	0.1	.	14.3234	0.66502	1.0:0.0:0.0:0.0	.	427	Q8N6K7	SAMD3_HUMAN	G	427;451;427;427;68	ENSP00000357116:V427G;ENSP00000402092:V451G;ENSP00000403565:V427G;ENSP00000391163:V427G	ENSP00000357116:V427G	V	-	2	0	SAMD3	130507641	0.999000	0.42202	0.999000	0.59377	0.418000	0.31294	4.326000	0.59241	2.173000	0.68751	0.460000	0.39030	GTG	SAMD3	-	NULL	ENSG00000164483		0.363	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	126	0.00	0	A	NM_152552	Missense_Mutation	130465948	130465948	-1	no_errors	ENST00000368134	ensembl	human	known	69_37n	missense	101	10.62	12	SNP	1.000	C
SAMD9L	219285	genome.wustl.edu	37	7	92760726	92760726	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:92760726T>G	ENST00000318238.4	-	5	5775	c.4559A>C	c.(4558-4560)gAc>gCc	p.D1520A	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1520A|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1520A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1520					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACGCAGGAGGTCTTTGACTTC	0.383																																						dbGAP											0													135.0	133.0	134.0					7																	92760726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4559A>C	7.37:g.92760726T>G	ENSP00000326247:p.Asp1520Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.D1520A	ENST00000318238.4	37	c.4559	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	T	8.133	0.783589	0.16189	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.23147	1.92;1.92;1.92	4.77	3.5	0.40072	.	0.370932	0.25349	N	0.031303	T	0.24851	0.0603	L	0.56769	1.78	0.09310	N	1	B	0.28933	0.228	B	0.30855	0.121	T	0.22556	-1.0213	10	0.66056	D	0.02	-0.1921	7.3503	0.26686	0.0:0.2183:0.0:0.7817	.	1520	Q8IVG5	SAM9L_HUMAN	A	1520;1520;1520;342	ENSP00000326247:D1520A;ENSP00000405760:D1520A;ENSP00000408796:D1520A	ENSP00000326247:D1520A	D	-	2	0	SAMD9L	92598662	0.001000	0.12720	0.021000	0.16686	0.063000	0.16089	0.999000	0.29757	0.731000	0.32448	0.383000	0.25322	GAC	SAMD9L	-	NULL	ENSG00000177409		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	570	0.52	3	T	NM_152703		92760726	92760726	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	missense	403	12.74	59	SNP	0.002	G
SASH1	23328	genome.wustl.edu	37	6	148865694	148865694	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:148865694A>C	ENST00000367467.3	+	18	3563	c.3088A>C	c.(3088-3090)Acc>Ccc	p.T1030P		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1030	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGCCAGCCCCACCAGCCCTAG	0.701																																						dbGAP											0													17.0	21.0	20.0					6																	148865694		2185	4268	6453	-	-	-	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3088A>C	6.37:g.148865694A>C	ENSP00000356437:p.Thr1030Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.T1030P	ENST00000367467.3	37	c.3088	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	A	6.579	0.475142	0.12521	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.36878	1.23	4.58	-4.31	0.03698	.	1.776430	0.03076	N	0.157901	T	0.09069	0.0224	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.08055	0.003;0.001	T	0.26916	-1.0089	10	0.42905	T	0.14	0.0605	13.2972	0.60305	0.3773:0.0:0.6227:0.0	.	1011;1030	Q6P4R9;O94885	.;SASH1_HUMAN	P	1030;440	ENSP00000356437:T1030P	ENSP00000356437:T1030P	T	+	1	0	SASH1	148907387	0.000000	0.05858	0.032000	0.17829	0.513000	0.34164	-0.514000	0.06298	-0.901000	0.03891	-1.113000	0.02065	ACC	SASH1	-	NULL	ENSG00000111961		0.701	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	52	0.00	0	A	NM_015278		148865694	148865694	+1	no_errors	ENST00000367467	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	0.007	C
SASS6	163786	genome.wustl.edu	37	1	100568530	100568530	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:100568530T>G	ENST00000287482.5	-	14	1795	c.1655A>C	c.(1654-1656)cAc>cCc	p.H552P	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.H385P	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	552					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TGAACCAGGGTGGCTGGTATT	0.393																																						dbGAP											0													118.0	119.0	119.0					1																	100568530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1655A>C	1.37:g.100568530T>G	ENSP00000287482:p.His552Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT55|Q8N3K0	Missense_Mutation	SNP	NULL	p.H552P	ENST00000287482.5	37	c.1655	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	T	2.683	-0.274914	0.05679	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.45668	0.92;0.89	4.62	4.62	0.57501	.	0.432559	0.22614	N	0.057786	T	0.12092	0.0294	N	0.16478	0.41	0.23913	N	0.99649	B	0.02656	0.0	B	0.01281	0.0	T	0.08106	-1.0738	10	0.44086	T	0.13	-2.7533	9.8727	0.41185	0.0:0.0:0.1712:0.8288	.	552	Q6UVJ0	SAS6_HUMAN	P	552;525;385	ENSP00000287482:H552P;ENSP00000440169:H385P	ENSP00000287482:H552P	H	-	2	0	SASS6	100341118	0.979000	0.34478	0.965000	0.40720	0.045000	0.14185	2.999000	0.49473	2.073000	0.62155	0.449000	0.29647	CAC	SASS6	-	NULL	ENSG00000156876		0.393	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	137	0.72	1	T	NM_194292		100568530	100568530	-1	no_errors	ENST00000287482	ensembl	human	known	69_37n	missense	78	24.27	25	SNP	0.721	G
SBF2	81846	genome.wustl.edu	37	11	10052691	10052691	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:10052691A>C	ENST00000256190.8	-	4	443	c.306T>G	c.(304-306)ggT>ggG	p.G102G	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	102					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTTTGCTTCACCTTCAATCT	0.368																																						dbGAP											0													157.0	156.0	156.0					11																	10052691		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.306T>G	11.37:g.10052691A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.G102	ENST00000256190.8	37	c.306	CCDS31427.1	11																																																																																			SBF2	-	NULL	ENSG00000133812		0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	309	0.00	0	A	NM_030962		10052691	10052691	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	silent	329	11.32	42	SNP	0.998	C
SCAF8	22828	genome.wustl.edu	37	6	155126571	155126571	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:155126571A>C	ENST00000367178.3	+	9	1508	c.932A>C	c.(931-933)aAc>aCc	p.N311T	SCAF8_ENST00000417268.1_Missense_Mutation_p.N311T|SCAF8_ENST00000367186.4_Missense_Mutation_p.N377T	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	311	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAACAGCAAAACCTAGAACAT	0.358																																						dbGAP											0													82.0	79.0	80.0					6																	155126571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.932A>C	6.37:g.155126571A>C	ENSP00000356146:p.Asn311Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.N377T	ENST00000367178.3	37	c.1130	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553989	0.65425	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.05258	3.47;3.47;3.47	5.72	5.72	0.89469	.	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.993;0.997	D;D;D;D	0.77004	0.989;0.98;0.971;0.98	T	0.02167	-1.1202	10	0.54805	T	0.06	.	16.3035	0.82836	1.0:0.0:0.0:0.0	.	356;377;389;311	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	T	311;311;377	ENSP00000356146:N311T;ENSP00000413098:N311T;ENSP00000356154:N377T	ENSP00000356146:N311T	N	+	2	0	SCAF8	155168263	1.000000	0.71417	0.917000	0.36280	0.934000	0.57294	8.046000	0.89438	2.299000	0.77371	0.528000	0.53228	AAC	SCAF8	-	NULL	ENSG00000213079		0.358	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	163	0.61	1	A	NM_014892		155126571	155126571	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	missense	113	17.52	24	SNP	1.000	C
SCAF8	22828	genome.wustl.edu	37	6	155145466	155145466	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:155145466A>C	ENST00000367178.3	+	17	2601	c.2025A>C	c.(2023-2025)ccA>ccC	p.P675P	SCAF8_ENST00000417268.1_Silent_p.P675P|SCAF8_ENST00000367186.4_Silent_p.P741P|RNU6-824P_ENST00000363724.1_RNA	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	675	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAATCCCTCCACCTCCTTTTT	0.433																																						dbGAP											0													184.0	180.0	182.0					6																	155145466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2025A>C	6.37:g.155145466A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.P741	ENST00000367178.3	37	c.2223	CCDS5247.1	6																																																																																			SCAF8	-	NULL	ENSG00000213079		0.433	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	479	0.21	1	A	NM_014892		155145466	155145466	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	silent	459	14.76	80	SNP	0.978	C
SCAF8	22828	genome.wustl.edu	37	6	155148331	155148331	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:155148331A>C	ENST00000367178.3	+	18	2673	c.2097A>C	c.(2095-2097)ccA>ccC	p.P699P	SCAF8_ENST00000417268.1_Silent_p.P699P|SCAF8_ENST00000367186.4_Silent_p.P765P|RNU6-824P_ENST00000363724.1_RNA	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	699	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAGTTCCCCCACCTGTTGTGC	0.373																																						dbGAP											0													144.0	152.0	150.0					6																	155148331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2097A>C	6.37:g.155148331A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.P765	ENST00000367178.3	37	c.2295	CCDS5247.1	6																																																																																			SCAF8	-	NULL	ENSG00000213079		0.373	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	361	0.28	1	A	NM_014892		155148331	155148331	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	silent	233	13.60	37	SNP	1.000	C
SCAF8	22828	genome.wustl.edu	37	6	155153554	155153554	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:155153554A>C	ENST00000367178.3	+	20	3417	c.2841A>C	c.(2839-2841)ccA>ccC	p.P947P	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Silent_p.P947P|SCAF8_ENST00000367186.4_Silent_p.P1013P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	947	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTGGAATTCCACCCCAACGGG	0.498																																						dbGAP											0													146.0	158.0	154.0					6																	155153554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2841A>C	6.37:g.155153554A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.P1013	ENST00000367178.3	37	c.3039	CCDS5247.1	6																																																																																			SCAF8	-	NULL	ENSG00000213079		0.498	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	454	0.00	0	A	NM_014892		155153554	155153554	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	silent	249	11.35	32	SNP	0.987	C
SCAF8	22828	genome.wustl.edu	37	6	155153572	155153572	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:155153572A>C	ENST00000367178.3	+	20	3435	c.2859A>C	c.(2857-2859)ccA>ccC	p.P953P	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Silent_p.P953P|SCAF8_ENST00000367186.4_Silent_p.P1019P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	953	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GGGGAATCCCACCCCCATCGG	0.498																																						dbGAP											0													137.0	149.0	145.0					6																	155153572		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2859A>C	6.37:g.155153572A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.P1019	ENST00000367178.3	37	c.3057	CCDS5247.1	6																																																																																			SCAF8	-	NULL	ENSG00000213079		0.498	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	442	0.23	1	A	NM_014892		155153572	155153572	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	silent	233	19.66	57	SNP	1.000	C
ZBED9	114821	genome.wustl.edu	37	6	28554127	28554127	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:28554127A>C	ENST00000452236.2	-	1	985	c.368T>G	c.(367-369)gTg>gGg	p.V123G	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CAAAGTCACCACCTCTTCTCC	0.522																																						dbGAP											0													156.0	164.0	161.0					6																	28554127		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000452236.2:c.368T>G	6.37:g.28554127A>C	ENSP00000395259:p.Val123Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.V123G	ENST00000452236.2	37	c.368	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	A	7.762	0.705678	0.15172	.	.	ENSG00000232040	ENST00000452236	T	0.07021	3.23	3.37	-0.61	0.11604	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05731	0.0150	M	0.80616	2.505	0.32941	D	0.518437	B	0.28128	0.201	B	0.35182	0.197	T	0.10154	-1.0642	9	0.66056	D	0.02	.	7.0226	0.24922	0.4586:0.0:0.5414:0.0	.	123	Q6R2W3	SCND3_HUMAN	G	123	ENSP00000395259:V123G	ENSP00000395259:V123G	V	-	2	0	SCAND3	28662106	0.001000	0.12720	0.546000	0.28166	0.082000	0.17680	-0.036000	0.12185	0.031000	0.15407	-0.408000	0.06270	GTG	SCAND3	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000232040		0.522	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	259	0.77	2	A			28554127	28554127	-1	no_errors	ENST00000452236	ensembl	human	known	69_37n	missense	230	14.13	38	SNP	0.512	C
SCAF8	22828	genome.wustl.edu	37	6	155153608	155153608	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:155153608A>C	ENST00000367178.3	+	20	3471	c.2895A>C	c.(2893-2895)ccA>ccC	p.P965P	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Silent_p.P965P|SCAF8_ENST00000367186.4_Silent_p.P1031P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	965	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCATCCACCACCCCGTGGAC	0.488																																						dbGAP											0													117.0	128.0	124.0					6																	155153608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2895A>C	6.37:g.155153608A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.P1031	ENST00000367178.3	37	c.3093	CCDS5247.1	6																																																																																			SCAF8	-	NULL	ENSG00000213079		0.488	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	433	0.91	4	A	NM_014892		155153608	155153608	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	silent	266	12.75	39	SNP	0.997	C
SCARA5	286133	genome.wustl.edu	37	8	27737282	27737282	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:27737282A>C	ENST00000354914.3	-	8	1640	c.1155T>G	c.(1153-1155)agT>agG	p.S385R	SCARA5_ENST00000380385.2_Splice_Site_p.S160R	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	385					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCTCCACGCCACCTGCCGGAG	0.652																																						dbGAP											0													38.0	40.0	40.0					8																	27737282		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1154-1T>G	8.37:g.27737282A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.S385R	ENST00000354914.3	37	c.1155	CCDS6064.1	8	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594116	0.28445	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320	D;D	0.88586	-2.4;-2.37	4.96	3.76	0.43208	.	0.900193	0.09628	N	0.776595	T	0.78874	0.4352	N	0.08118	0	0.80722	D	1	B;B	0.28880	0.226;0.022	B;B	0.34242	0.178;0.053	T	0.64753	-0.6333	10	0.19147	T	0.46	.	9.3305	0.38018	0.8392:0.0:0.0:0.1608	.	160;385	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	R	385;160;185	ENSP00000346990:S385R;ENSP00000369746:S160R	ENSP00000346990:S385R	S	-	3	2	SCARA5	27793201	0.024000	0.19004	0.776000	0.31678	0.063000	0.16089	0.175000	0.16762	0.794000	0.33899	0.533000	0.62120	AGT	SCARA5	-	NULL	ENSG00000168079		0.652	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	38	0.00	0	A	NM_173833	Missense_Mutation	27737282	27737282	-1	no_errors	ENST00000354914	ensembl	human	known	69_37n	missense	47	30.43	21	SNP	0.992	C
SCARB1	949	genome.wustl.edu	37	12	125292371	125292371	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:125292371T>G	ENST00000415380.2	-	7	1070	c.945A>C	c.(943-945)ccA>ccC	p.P315P	SCARB1_ENST00000546215.1_Silent_p.P315P|SCARB1_ENST00000261693.6_Silent_p.P315P|SCARB1_ENST00000339570.5_Silent_p.P315P|SCARB1_ENST00000376788.1_Silent_p.P215P|SCARB1_ENST00000540495.1_Silent_p.P278P|SCARB1_ENST00000541205.1_Silent_p.P274P|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.P261P			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	315					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTTCGTTGGGTGGGTAGATGG	0.582																																						dbGAP											0													107.0	91.0	96.0					12																	125292371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.945A>C	12.37:g.125292371T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.P315	ENST00000415380.2	37	c.945		12																																																																																			SCARB1	-	pfam_CD36	ENSG00000073060		0.582	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	109	0.91	1	T	NM_005505		125292371	125292371	-1	no_errors	ENST00000415380	ensembl	human	known	69_37n	silent	83	15.15	15	SNP	0.329	G
SCD5	79966	genome.wustl.edu	37	4	83626523	83626523	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:83626523A>C	ENST00000319540.4	-	2	595	c.276T>G	c.(274-276)ggT>ggG	p.G92G	SCD5_ENST00000273908.4_Silent_p.G92G|SCD5_ENST00000282709.4_Silent_p.G92G	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	92					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGCGATGGGCACCAGCTGTCA	0.582																																						dbGAP											0													66.0	60.0	62.0					4																	83626523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.276T>G	4.37:g.83626523A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.G92	ENST00000319540.4	37	c.276	CCDS34024.1	4																																																																																			SCD5	-	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	ENSG00000145284		0.582	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	46	0.00	0	A	NM_024906		83626523	83626523	-1	no_errors	ENST00000319540	ensembl	human	known	69_37n	silent	43	16.67	9	SNP	0.863	C
SCEL	8796	genome.wustl.edu	37	13	78133959	78133959	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:78133959T>G	ENST00000349847.3	+	4	266	c.182T>G	c.(181-183)gTg>gGg	p.V61G	SCEL_ENST00000377246.3_Missense_Mutation_p.V61G|SCEL_ENST00000535157.1_Missense_Mutation_p.V61G	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	61					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TACGGTAGGGTGGTGCTCAAC	0.413																																						dbGAP											0													250.0	222.0	231.0					13																	78133959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.182T>G	13.37:g.78133959T>G	ENSP00000302579:p.Val61Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.V61G	ENST00000349847.3	37	c.182	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085963	0.55861	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.21191	2.02;2.02;2.02	5.71	3.3	0.37823	.	0.126127	0.36101	N	0.002794	T	0.26629	0.0651	M	0.61703	1.905	0.51012	D	0.999902	P;P;D	0.54207	0.814;0.814;0.965	B;B;P	0.50352	0.435;0.402;0.638	T	0.03051	-1.1078	10	0.25106	T	0.35	-1.865	7.6047	0.28095	0.0:0.2202:0.0:0.7798	.	61;61;61	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	G	61	ENSP00000437895:V61G;ENSP00000366454:V61G;ENSP00000302579:V61G	ENSP00000315127:V61G	V	+	2	0	SCEL	77031960	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.289000	0.18957	0.455000	0.26910	0.482000	0.46254	GTG	SCEL	-	NULL	ENSG00000136155		0.413	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	274	0.36	1	T	NM_144777		78133959	78133959	+1	no_errors	ENST00000349847	ensembl	human	known	69_37n	missense	237	15.66	44	SNP	1.000	G
SCEL	8796	genome.wustl.edu	37	13	78184243	78184243	+	Splice_Site	SNP	T	T	G	rs544667946		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:78184243T>G	ENST00000349847.3	+	22	1421		c.e22+2		SCEL_ENST00000377246.3_Splice_Site|SCEL_ENST00000535157.1_Splice_Site|SCEL_ENST00000469982.1_Splice_Site	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin						embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TAACCAAGGGTAAGGTTTATG	0.393																																						dbGAP											0													93.0	92.0	92.0					13																	78184243		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1337+2T>G	13.37:g.78184243T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Splice_Site	SNP	-	e21+2	ENST00000349847.3	37	c.1337+2	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238840	0.58995	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2971	0.43631	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCEL	77082244	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	3.315000	0.51951	2.005000	0.58758	0.460000	0.39030	.	SCEL	-	-	ENSG00000136155		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	145	0.00	0	T	NM_144777	Intron	78184243	78184243	+1	no_errors	ENST00000349847	ensembl	human	known	69_37n	splice_site	105	13.82	17	SNP	1.000	G
SCG2	7857	genome.wustl.edu	37	2	224462307	224462307	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:224462307A>C	ENST00000305409.2	-	2	1926	c.1694T>G	c.(1693-1695)gTg>gGg	p.V565G		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTTTGCTCACCGGGGCCAG	0.493																																						dbGAP											0													85.0	85.0	85.0					2																	224462307		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1694T>G	2.37:g.224462307A>C	ENSP00000304133:p.Val565Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.V565G	ENST00000305409.2	37	c.1694	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	A	0.931	-0.712616	0.03206	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01705	4.68	5.55	1.84	0.25277	.	0.812646	0.10806	N	0.632167	T	0.01454	0.0047	L	0.28274	0.84	0.09310	N	0.999991	B	0.11235	0.004	B	0.12156	0.007	T	0.49835	-0.8897	10	0.14656	T	0.56	.	5.4279	0.16436	0.576:0.2794:0.1446:0.0	.	565	P13521	SCG2_HUMAN	G	565;425	ENSP00000304133:V565G	ENSP00000304133:V565G	V	-	2	0	SCG2	224170551	0.001000	0.12720	0.445000	0.26908	0.923000	0.55619	1.294000	0.33365	0.373000	0.24621	0.477000	0.44152	GTG	SCG2	-	pfam_Granin	ENSG00000171951		0.493	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	286	0.00	0	A	NM_003469		224462307	224462307	-1	no_errors	ENST00000305409	ensembl	human	known	69_37n	missense	152	16.30	30	SNP	0.003	C
SCG2	7857	genome.wustl.edu	37	2	224462747	224462747	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:224462747T>G	ENST00000305409.2	-	2	1486	c.1254A>C	c.(1252-1254)acA>acC	p.T418T		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0			L -> R (in MEN1). {ECO:0000269|PubMed:17555499}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACGACCAGGTGTTTTAGGGT	0.483																																						dbGAP											0													70.0	68.0	69.0					2																	224462747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1254A>C	2.37:g.224462747T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Granin	p.T418	ENST00000305409.2	37	c.1254	CCDS2457.1	2																																																																																			SCG2	-	pfam_Granin	ENSG00000171951		0.483	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	322	0.31	1	T	NM_003469		224462747	224462747	-1	no_errors	ENST00000305409	ensembl	human	known	69_37n	silent	163	11.76	22	SNP	0.000	G
SCML2	10389	genome.wustl.edu	37	X	18323137	18323137	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:18323137A>C	ENST00000251900.4	-	7	844	c.685T>G	c.(685-687)Tgg>Ggg	p.W229G		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	229					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGGCGACACCACCCAGCTGGG	0.393																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0													170.0	162.0	165.0					X																	18323137		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.685T>G	X.37:g.18323137A>C	ENSP00000251900:p.Trp229Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.W229G	ENST00000251900.4	37	c.685	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	a	18.97	3.735749	0.69189	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.48201	0.82	5.59	5.59	0.84812	.	0.112267	0.64402	D	0.000003	T	0.80454	0.4626	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87864	0.2666	10	0.87932	D	0	.	14.9643	0.71179	1.0:0.0:0.0:0.0	.	197;229	B4DZR9;Q9UQR0	.;SCML2_HUMAN	G	229;197	ENSP00000251900:W229G	ENSP00000251900:W229G	W	-	1	0	SCML2	18233058	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	8.804000	0.91921	1.984000	0.57885	0.414000	0.27820	TGG	SCML2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000102098		0.393	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	442	0.23	1	A	NM_006089		18323137	18323137	-1	no_errors	ENST00000251900	ensembl	human	known	69_37n	missense	534	12.13	74	SNP	1.000	C
SCN10A	6336	genome.wustl.edu	37	3	38783874	38783874	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:38783874T>G	ENST00000449082.2	-	13	2013	c.2014A>C	c.(2014-2016)Acc>Ccc	p.T672P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	672					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGCACAAGGTGATGGTGAGC	0.527																																						dbGAP											0													152.0	123.0	132.0					3																	38783874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2014A>C	3.37:g.38783874T>G	ENSP00000390600:p.Thr672Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.T672P	ENST00000449082.2	37	c.2014	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315692	0.81469	.	.	ENSG00000185313	ENST00000449082	D	0.97575	-4.44	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	M	0.91972	3.26	0.58432	D	0.999992	D	0.76494	0.999	D	0.85130	0.997	D	0.99601	1.0978	10	0.87932	D	0	.	13.7886	0.63126	0.0:0.0:0.0:1.0	.	672	Q9Y5Y9	SCNAA_HUMAN	P	672	ENSP00000390600:T672P	ENSP00000390600:T672P	T	-	1	0	SCN10A	38758878	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.791000	0.85805	1.980000	0.57719	0.477000	0.44152	ACC	SCN10A	-	NULL	ENSG00000185313		0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	148	0.67	1	T	NM_006514		38783874	38783874	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	118	16.78	24	SNP	1.000	G
SCN10A	6336	genome.wustl.edu	37	3	38783992	38783992	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:38783992T>G	ENST00000449082.2	-	13	1895	c.1896A>C	c.(1894-1896)ccA>ccC	p.P632P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	632					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCAAGCAGGGTGGGCACTTCT	0.517																																						dbGAP											0													172.0	158.0	163.0					3																	38783992		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1896A>C	3.37:g.38783992T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P632	ENST00000449082.2	37	c.1896	CCDS33736.1	3																																																																																			SCN10A	-	NULL	ENSG00000185313		0.517	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	226	0.44	1	T	NM_006514		38783992	38783992	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	silent	187	15.77	35	SNP	0.981	G
SCN3A	6328	genome.wustl.edu	37	2	165947468	165947468	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:165947468T>G	ENST00000360093.3	-	28	5686	c.5195A>C	c.(5194-5196)cAc>cCc	p.H1732P	SCN3A_ENST00000540861.1_Missense_Mutation_p.H215P|SCN3A_ENST00000409101.3_Missense_Mutation_p.H1683P|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.H1732P|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1732					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGCCAGGGTGAATTGTGTC	0.463																																						dbGAP											0													162.0	160.0	161.0					2																	165947468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5195A>C	2.37:g.165947468T>G	ENSP00000353206:p.His1732Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.H1732P	ENST00000360093.3	37	c.5195		2	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902417	0.52227	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.97016	-3.96;-3.96;-3.9;-4.21	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000002	D	0.97359	0.9136	L	0.56199	1.76	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.993;0.999	P;P;D	0.70227	0.801;0.801;0.968	D	0.98055	1.0390	10	0.72032	D	0.01	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	1683;1683;1732	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	P	1732;1732;1683;215	ENSP00000353206:H1732P;ENSP00000283254:H1732P;ENSP00000386726:H1683P;ENSP00000439920:H215P	ENSP00000283254:H1732P	H	-	2	0	SCN3A	165655714	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.030000	0.88816	2.288000	0.76882	0.529000	0.55759	CAC	SCN3A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000153253		0.463	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		422	0.00	0	T	NM_006922		165947468	165947468	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	missense	340	12.56	49	SNP	1.000	G
SCN2A	6326	genome.wustl.edu	37	2	166245526	166245526	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:166245526A>C	ENST00000375437.2	+	27	5500	c.5210A>C	c.(5209-5211)cAc>cCc	p.H1737P	SCN2A_ENST00000375427.2_Missense_Mutation_p.H1737P|SCN2A_ENST00000357398.3_Missense_Mutation_p.H1737P|SCN2A_ENST00000283256.6_Missense_Mutation_p.H1737P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1737					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACAAAGATCACCCTGGAAGC	0.453																																						dbGAP											0													196.0	193.0	194.0					2																	166245526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5210A>C	2.37:g.166245526A>C	ENSP00000364586:p.His1737Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.H1737P	ENST00000375437.2	37	c.5210	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406732	0.62399	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	L	0.58428	1.81	0.80722	D	1	P;P	0.50369	0.931;0.934	P;P	0.58820	0.665;0.846	D	0.97688	1.0177	10	0.72032	D	0.01	.	16.3507	0.83204	1.0:0.0:0.0:0.0	.	1737;1737	Q99250-2;Q99250	.;SCN2A_HUMAN	P	1737	ENSP00000364586:H1737P;ENSP00000349973:H1737P;ENSP00000283256:H1737P;ENSP00000364576:H1737P	ENSP00000283256:H1737P	H	+	2	0	SCN2A	165953772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.221000	0.95188	2.319000	0.78375	0.524000	0.50904	CAC	SCN2A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000136531		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	773	0.38	3	A	NM_021007		166245526	166245526	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	396	10.20	45	SNP	1.000	C
SCN3B	55800	genome.wustl.edu	37	11	123508970	123508970	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123508970T>G	ENST00000392770.2	-	4	1310	c.508A>C	c.(508-510)Acc>Ccc	p.T170P	SCN3B_ENST00000530277.1_Missense_Mutation_p.T170P|SCN3B_ENST00000299333.3_Missense_Mutation_p.T170P	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	170					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCACAAGGTGAGGAAGACC	0.453																																						dbGAP											0													88.0	76.0	80.0					11																	123508970		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.508A>C	11.37:g.123508970T>G	ENSP00000376523:p.Thr170Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.T170P	ENST00000392770.2	37	c.508	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561895	0.65538	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277	D;D;D	0.96685	-4.09;-4.09;-4.09	5.58	4.44	0.53790	.	0.043357	0.85682	N	0.000000	D	0.96873	0.8979	L	0.50333	1.59	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	D	0.95720	0.8765	10	0.38643	T	0.18	-4.7602	12.7698	0.57415	0.0:0.0:0.1371:0.8629	.	170	Q9NY72	SCN3B_HUMAN	P	170	ENSP00000376523:T170P;ENSP00000299333:T170P;ENSP00000432785:T170P	ENSP00000299333:T170P	T	-	1	0	SCN3B	123014180	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.146000	0.50631	0.919000	0.36945	0.533000	0.62120	ACC	SCN3B	-	NULL	ENSG00000166257		0.453	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	75	0.00	0	T	NM_018400		123508970	123508970	-1	no_errors	ENST00000299333	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	1.000	G
SCN5A	6331	genome.wustl.edu	37	3	38592335	38592335	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:38592335A>C	ENST00000333535.4	-	28	5677	c.5528T>G	c.(5527-5529)gTg>gGg	p.V1843G	SCN5A_ENST00000425664.1_Missense_Mutation_p.V1825G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1825G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1842G|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1843G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1789G|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1842G|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1810G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1789G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1789G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1843	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCCCACTCACCATGGGCAG	0.562																																						dbGAP											0													98.0	106.0	103.0					3																	38592335		2123	4232	6355	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5528T>G	3.37:g.38592335A>C	ENSP00000328968:p.Val1843Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V1843G	ENST00000333535.4	37	c.5528	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756851	0.69648	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96300	-3.86;-3.88;-3.88;-3.97;-3.88;-3.86;-3.88;-3.96;-3.97;-3.97	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.992;0.999;0.991;0.997;0.996	D	0.99651	1.0991	10	0.87932	D	0	.	14.5421	0.68002	1.0:0.0:0.0:0.0	.	1789;1810;1825;1843;1842;1843	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	G	1825;1842;1843;1789;1842;1825;1843;1810;1789;1789	ENSP00000398962:V1825G;ENSP00000398266:V1842G;ENSP00000410257:V1843G;ENSP00000388797:V1789G;ENSP00000397915:V1842G;ENSP00000416634:V1825G;ENSP00000328968:V1843G;ENSP00000399524:V1810G;ENSP00000403355:V1789G;ENSP00000413996:V1789G	ENSP00000328968:V1843G	V	-	2	0	SCN5A	38567339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.133000	0.94460	2.025000	0.59659	0.460000	0.39030	GTG	SCN5A	-	NULL	ENSG00000183873		0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	160	0.00	0	A	NM_198056		38592335	38592335	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	131	15.29	24	SNP	1.000	C
SCN9A	6335	genome.wustl.edu	37	2	167141110	167141110	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:167141110T>G	ENST00000409435.1	-	11	1826	c.1827A>C	c.(1825-1827)ccA>ccC	p.P609P	SCN9A_ENST00000375387.4_Silent_p.P610P|SCN9A_ENST00000409672.1_Silent_p.P609P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.P610P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	609					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGCATTGGTGGGGACCTAC	0.577																																						dbGAP											0													88.0	95.0	92.0					2																	167141110		2167	4271	6438	-	-	-	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1827A>C	2.37:g.167141110T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.P610	ENST00000409435.1	37	c.1830	CCDS46441.1	2																																																																																			SCN9A	-	pfam_DUF3451	ENSG00000169432		0.577	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	131	0.00	0	T	NM_002977		167141110	167141110	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	silent	95	20.17	24	SNP	0.109	G
SCN7A	6332	genome.wustl.edu	37	2	167262332	167262332	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:167262332A>C	ENST00000409855.1	-	25	4933	c.4807T>G	c.(4807-4809)Ttt>Gtt	p.F1603V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1603					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GCTAACAAAAACCCTGATTCT	0.388																																						dbGAP											0													159.0	156.0	157.0					2																	167262332		1869	4109	5978	-	-	-	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4807T>G	2.37:g.167262332A>C	ENSP00000386796:p.Phe1603Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.F1603V	ENST00000409855.1	37	c.4807	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011515	0.54468	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97114	-4.25	4.51	4.51	0.55191	.	0.107598	0.41396	D	0.000882	D	0.94955	0.8368	M	0.67700	2.07	0.41527	D	0.988431	P	0.42456	0.78	B	0.35182	0.197	D	0.95131	0.8255	10	0.66056	D	0.02	.	12.1037	0.53798	1.0:0.0:0.0:0.0	.	1603	Q01118	SCN7A_HUMAN	V	1603	ENSP00000386796:F1603V	ENSP00000259060:F1603V	F	-	1	0	SCN7A	166970578	1.000000	0.71417	0.321000	0.25320	0.984000	0.73092	7.222000	0.78025	2.035000	0.60131	0.533000	0.62120	TTT	SCN7A	-	NULL	ENSG00000136546		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	408	0.00	0	A			167262332	167262332	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	missense	286	10.06	32	SNP	0.914	C
SDK1	221935	genome.wustl.edu	37	7	4051820	4051820	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:4051820A>C	ENST00000404826.2	+	16	2512	c.2373A>C	c.(2371-2373)ccA>ccC	p.P791P	SDK1_ENST00000389531.3_Silent_p.P791P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	791	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTGGCAGCCACCCCCAGAAA	0.532																																						dbGAP											0													116.0	121.0	119.0					7																	4051820		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2373A>C	7.37:g.4051820A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P791	ENST00000404826.2	37	c.2373	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.532	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	152	0.00	0	A	NM_152744		4051820	4051820	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	silent	162	21.15	44	SNP	0.016	C
SDK1	221935	genome.wustl.edu	37	7	4119151	4119151	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:4119151A>C	ENST00000404826.2	+	22	3398	c.3259A>C	c.(3259-3261)Acc>Ccc	p.T1087P	SDK1_ENST00000389531.3_Missense_Mutation_p.T1087P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1087	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGCTCCGCCACCCTTCAGTT	0.567																																						dbGAP											0													166.0	150.0	155.0					7																	4119151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3259A>C	7.37:g.4119151A>C	ENSP00000385899:p.Thr1087Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1087P	ENST00000404826.2	37	c.3259	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656926	0.67586	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.59502	0.26;0.26	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.79106	0.4390	M	0.89904	3.07	0.58432	D	0.999997	D;D	0.60160	0.984;0.987	D;D	0.66497	0.944;0.937	D	0.84097	0.0393	10	0.72032	D	0.01	.	14.8679	0.70430	1.0:0.0:0.0:0.0	.	1087;1087	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	P	1087	ENSP00000385899:T1087P;ENSP00000374182:T1087P	ENSP00000374182:T1087P	T	+	1	0	SDK1	4085677	1.000000	0.71417	0.427000	0.26684	0.977000	0.68977	7.309000	0.78937	1.912000	0.55364	0.533000	0.62120	ACC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	103	0.94	1	A	NM_152744		4119151	4119151	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	117	20.67	31	SNP	1.000	C
SCRN1	9805	genome.wustl.edu	37	7	29983717	29983717	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:29983717A>C	ENST00000426154.1	-	4	596	c.420T>G	c.(418-420)ggT>ggG	p.G140G	SCRN1_ENST00000434476.2_Silent_p.G160G|SCRN1_ENST00000425819.2_Silent_p.G72G|SCRN1_ENST00000416113.2_Silent_p.G31G|SCRN1_ENST00000409497.1_Silent_p.G140G|SCRN1_ENST00000242059.5_Silent_p.G140G|SCRN1_ENST00000494620.1_5'UTR	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	140					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						AGTAATTCCCACCTTGTCCAT	0.468																																						dbGAP											0													141.0	124.0	130.0					7																	29983717		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.420T>G	7.37:g.29983717A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Silent	SNP	pfam_Peptidase_C69	p.G160	ENST00000426154.1	37	c.480	CCDS5422.1	7																																																																																			SCRN1	-	pfam_Peptidase_C69	ENSG00000136193		0.468	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN1	HGNC	protein_coding	OTTHUMT00000214231.2	80	0.00	0	A	NM_014766		29983717	29983717	-1	no_errors	ENST00000434476	ensembl	human	known	69_37n	silent	107	21.17	29	SNP	0.965	C
SEC61A2	55176	genome.wustl.edu	37	10	12197867	12197867	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:12197867A>C	ENST00000298428.9	+	7	642	c.553A>C	c.(553-555)Acc>Ccc	p.T185P	SEC61A2_ENST00000379020.4_Missense_Mutation_p.T185P|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.T163P|SEC61A2_ENST00000304267.8_Missense_Mutation_p.T185P	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	185					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CTTTATTGCCACCAACATCTG	0.502																																						dbGAP											0													280.0	246.0	257.0					10																	12197867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.553A>C	10.37:g.12197867A>C	ENSP00000298428:p.Thr185Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	p.T185P	ENST00000298428.9	37	c.553	CCDS7088.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.747189|4.747189	0.89663|0.89663	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000419021|ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SecY subunit domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.87807|0.87807	0.6270|0.6270	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.994;0.971	.|D;D;D	.|0.77004	.|0.975;0.987;0.989	D|D	0.91750|0.91750	0.5411|0.5411	5|9	.|0.87932	.|D	.|0	-18.5563|-18.5563	15.5002|15.5002	0.75691|0.75691	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|163;185;185	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	P|P	66|163;185;185;185	.|.	.|ENSP00000298428:T185P	H|T	+|+	2|1	0|0	SEC61A2|SEC61A2	12237873|12237873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.307000|9.307000	0.96226|0.96226	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	CAC|ACC	SEC61A2	-	pfam_SecY,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	ENSG00000065665		0.502	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	324	0.61	2	A	NM_018144		12197867	12197867	+1	no_errors	ENST00000298428	ensembl	human	known	69_37n	missense	361	15.46	66	SNP	1.000	C
SEC62	7095	genome.wustl.edu	37	3	169700701	169700701	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:169700701T>G	ENST00000337002.4	+	4	514		c.e4+2		SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Splice_Site	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)						cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TCCAAAAAGGTGAGTTAATCT	0.294																																						dbGAP											0													24.0	26.0	26.0					3																	169700701		2011	4176	6187	-	-	-	SO:0001630	splice_region_variant	0			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.456+2T>G	3.37:g.169700701T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNQ0|O00682|O00729	Splice_Site	SNP	-	e4+2	ENST00000337002.4	37	c.456+2	CCDS3210.1	3	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575395	0.45902	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2771	0.73750	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC62	171183395	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.138000	0.64795	2.062000	0.61559	0.528000	0.53228	.	SEC62	-	-	ENSG00000008952		0.294	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC62	HGNC	protein_coding	OTTHUMT00000352043.1	98	0.00	0	T		Intron	169700701	169700701	+1	no_errors	ENST00000337002	ensembl	human	known	69_37n	splice_site	61	22.22	18	SNP	1.000	G
SECISBP2L	9728	genome.wustl.edu	37	15	49325254	49325254	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:49325254A>C	ENST00000559471.1	-	4	835	c.572T>G	c.(571-573)gTg>gGg	p.V191G	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V191G	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	191							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TACATTTTTCACCAGCGGCCT	0.363																																						dbGAP											0													200.0	176.0	184.0					15																	49325254		2197	4295	6492	-	-	-	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.572T>G	15.37:g.49325254A>C	ENSP00000453854:p.Val191Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N767	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.V191G	ENST00000559471.1	37	c.572	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906063	0.52333	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89270	-2.49	5.18	4.06	0.47325	.	0.200927	0.46758	D	0.000280	T	0.80732	0.4679	N	0.24115	0.695	0.51767	D	0.999934	P;P	0.41848	0.454;0.763	B;B	0.39027	0.15;0.288	T	0.82289	-0.0531	10	0.59425	D	0.04	.	10.3176	0.43747	0.9227:0.0:0.0773:0.0	.	191;191	Q93073;Q93073-2	SBP2L_HUMAN;.	G	191	ENSP00000261847:V191G	ENSP00000261847:V191G	V	-	2	0	SECISBP2L	47112546	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	5.089000	0.64492	1.949000	0.56562	0.402000	0.26972	GTG	SECISBP2L	-	NULL	ENSG00000138593		0.363	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	124	0.00	0	A	NM_014701		49325254	49325254	-1	no_errors	ENST00000559471	ensembl	human	known	69_37n	missense	111	22.76	33	SNP	1.000	C
SEMA6A	57556	genome.wustl.edu	37	5	115782889	115782889	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:115782889A>C	ENST00000343348.6	-	19	3300	c.2513T>G	c.(2512-2514)gTg>gGg	p.V838G	CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.V265G|SEMA6A_ENST00000257414.8_Missense_Mutation_p.V855G|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.V838G|SEMA6A_ENST00000503865.1_Missense_Mutation_p.V217G|SEMA6A_ENST00000282394.6_Missense_Mutation_p.V315G|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	838					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATCTGGGCCACCTCGCTCAT	0.617																																						dbGAP											0													171.0	177.0	175.0					5																	115782889		2094	4218	6312	-	-	-	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2513T>G	5.37:g.115782889A>C	ENSP00000345512:p.Val838Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V855G	ENST00000343348.6	37	c.2564	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.258|6.258	0.415746|0.415746	0.11870|0.11870	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263|ENST00000515129	T;T;T;T;T;T|.	0.46063|.	2.22;2.22;0.88;2.69;0.9;2.22|.	5.21|5.21	1.26|1.26	0.21427|0.21427	.|.	3.660620|.	0.00357|.	N|.	0.000025|.	T|T	0.37156|0.37156	0.0993|0.0993	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B;B;B;B|.	0.12013|.	0.0;0.0;0.005;0.0;0.0;0.0|.	B;B;B;B;B;B|.	0.06405|.	0.0;0.0;0.002;0.0;0.002;0.001|.	T|T	0.05566|0.05566	-1.0877|-1.0877	10|5	0.22706|.	T|.	0.39|.	.|.	5.8685|5.8685	0.18791|0.18791	0.595:0.2593:0.1457:0.0|0.595:0.2593:0.1457:0.0	.|.	217;838;382;855;315;265|.	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01|.	.;SEM6A_HUMAN;.;.;.;.|.	G|G	838;855;265;315;217;838|353	ENSP00000345512:V838G;ENSP00000257414:V855G;ENSP00000422997:V265G;ENSP00000282394:V315G;ENSP00000425364:V217G;ENSP00000424388:V838G|.	ENSP00000257414:V855G|.	V|W	-|-	2|1	0|0	SEMA6A|SEMA6A	115810788|115810788	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	2.695000|2.695000	0.47043|0.47043	-0.014000|-0.014000	0.14175|0.14175	0.455000|0.455000	0.32223|0.32223	GTG|TGG	SEMA6A	-	NULL	ENSG00000092421		0.617	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	190	0.00	0	A	NM_020796		115782889	115782889	-1	no_errors	ENST00000257414	ensembl	human	known	69_37n	missense	193	16.02	37	SNP	1.000	C
SEMA6A	57556	genome.wustl.edu	37	5	115813553	115813553	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:115813553T>G	ENST00000343348.6	-	15	2425	c.1638A>C	c.(1636-1638)tcA>tcC	p.S546S	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.S546S|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.S546S|SEMA6A_ENST00000282394.6_Silent_p.S78S|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	546					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCTGTTGGGTGATAAATGGC	0.512																																						dbGAP											0													121.0	120.0	120.0					5																	115813553		2033	4205	6238	-	-	-	SO:0001819	synonymous_variant	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1638A>C	5.37:g.115813553T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2H9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.H116P	ENST00000343348.6	37	c.347	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	T	0.788	-0.760051	0.03019	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.76	-5.83	0.02325	.	.	.	.	.	T	0.45074	0.1324	.	.	.	0.46701	D	0.999164	.	.	.	.	.	.	T	0.46133	-0.9213	4	.	.	.	.	5.3182	0.15866	0.0953:0.1206:0.4829:0.3012	.	.	.	.	P	116	.	.	H	-	2	0	SEMA6A	115841452	0.998000	0.40836	0.855000	0.33649	0.029000	0.11900	0.375000	0.20518	-0.840000	0.04206	-0.323000	0.08544	CAC	SEMA6A	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000092421		0.512	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	166	0.60	1	T	NM_020796		115813553	115813553	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000515129	ensembl	human	putative	69_37n	missense	160	13.98	26	SNP	0.505	G
SEPHS2	22928	genome.wustl.edu	37	16	30455971	30455971	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:30455971A>C	ENST00000478753.2	-	1	1531	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F303V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F360V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	360					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGAAGCCCAAACCGTCCACTG	0.463																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	dbGAP											0													82.0	80.0	81.0					16																	30455971		1891	4124	6015	-	-	-	SO:0001583	missense	0			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1078T>G	16.37:g.30455971A>C	ENSP00000418669:p.Phe360Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.F303V	ENST00000478753.2	37	c.907		16	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217294	0.79352	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.19532	2.14;2.14;2.14	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.110136	0.64402	D	0.000007	T	0.40815	0.1132	M	0.77406	2.37	0.80722	D	1	P;P	0.47604	0.898;0.837	P;B	0.55667	0.781;0.373	T	0.20538	-1.0272	10	0.36615	T	0.2	-7.9115	13.4746	0.61301	1.0:0.0:0.0:0.0	.	360;303	Q99611;F5H8F9	SPS2_HUMAN;.	V	360;303;311;360	ENSP00000418669:F360V;ENSP00000443601:F303V;ENSP00000426234:F360V	ENSP00000390233:F311V	F	-	1	0	SEPHS2	30363472	1.000000	0.71417	0.936000	0.37596	0.966000	0.64601	9.249000	0.95470	2.143000	0.66587	0.533000	0.62120	TTT	SEPHS2	-	pfam_AIR_synth_C,superfamily_AIR_synth_C,pirsf_SelD,tigrfam_SelD	ENSG00000179918		0.463	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	106	0.00	0	A	NM_012248		30455971	30455971	-1	no_errors	ENST00000542752	ensembl	human	known	69_37n	missense	66	21.43	18	SNP	0.999	C
SEPT10	151011	genome.wustl.edu	37	2	110303611	110303611	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:110303611T>G	ENST00000397712.2	-	10	1728				SEPT10_ENST00000415095.1_3'UTR|SEPT10_ENST00000437928.1_Intron|SEPT10_ENST00000356688.4_Intron|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000545389.1_3'UTR	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CCAGGGAGGGTGGCTGGGCCT	0.522											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													130.0	146.0	141.0					2																	110303611		2018	4169	6187	-	-	-	SO:0001627	intron_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1349+15A>C	2.37:g.110303611T>G		Somatic	1426	WXS	Illumina GAIIx	Phase_IV	B3KRQ9|Q86VP5|Q9HAH6	RNA	SNP	-	NULL	ENST00000397712.2	37	NULL	CCDS46383.1	2																																																																																			SEPT10	-	-	ENSG00000186522		0.522	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	94	0.00	0	T	NM_144710		110303611	110303611	-1	no_errors	ENST00000468616	ensembl	human	known	69_37n	rna	67	24.44	22	SNP	0.000	G
SEPT3	55964	genome.wustl.edu	37	22	42392935	42392935	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42392935A>C	ENST00000396426.3	+	11	1296	c.1041A>C	c.(1039-1041)ccA>ccC	p.P347P	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396425.3_3'UTR|SEPT3_ENST00000406029.1_Silent_p.P283P|WBP2NL_ENST00000328823.9_5'Flank	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	347					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTGTCCTTCCACCTGTGCCAG	0.577																																						dbGAP											0													156.0	135.0	142.0					22																	42392935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.1041A>C	22.37:g.42392935A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.P347	ENST00000396426.3	37	c.1041	CCDS14026.2	22																																																																																			SEPT3	-	pirsf_Septin	ENSG00000100167		0.577	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	150	0.00	0	A	NM_145734		42392935	42392935	+1	no_errors	ENST00000396426	ensembl	human	known	69_37n	silent	76	23.00	23	SNP	1.000	C
SEPT8	23176	genome.wustl.edu	37	5	132097264	132097264	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:132097264A>C	ENST00000378719.2	-	7	1085	c.848T>G	c.(847-849)gTg>gGg	p.V283G	SEPT8_ENST00000296873.7_Missense_Mutation_p.V283G|SEPT8_ENST00000448933.1_Missense_Mutation_p.V223G|SEPT8_ENST00000458488.2_Missense_Mutation_p.V283G|SEPT8_ENST00000378699.2_Missense_Mutation_p.V223G|SEPT8_ENST00000378721.4_Missense_Mutation_p.V281G|SEPT8_ENST00000378706.1_Missense_Mutation_p.V283G|SEPT8_ENST00000378701.1_Missense_Mutation_p.V281G|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	283	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCATGTTCACCCGGATCAA	0.602																																						dbGAP											0													72.0	78.0	76.0					5																	132097264		2193	4298	6491	-	-	-	SO:0001583	missense	0			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.848T>G	5.37:g.132097264A>C	ENSP00000367991:p.Val283Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.V283G	ENST00000378719.2	37	c.848	CCDS43358.1	5	.	.	.	.	.	.	.	.	.	.	A	28.3	4.912013	0.92178	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.28	5.28	0.74379	.	0.062767	0.64402	D	0.000005	D	0.91432	0.7296	M	0.83692	2.655	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.934;1.0	D;D;P;D	0.91635	0.999;0.999;0.895;0.999	D	0.92769	0.6230	10	0.87932	D	0	.	15.217	0.73277	1.0:0.0:0.0:0.0	.	281;281;283;283	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	G	283;281;283;223;283;223;281;283	ENSP00000367991:V283G;ENSP00000367993:V281G;ENSP00000296873:V283G;ENSP00000399840:V223G;ENSP00000367978:V283G;ENSP00000367971:V223G;ENSP00000367973:V281G;ENSP00000394766:V283G	ENSP00000296873:V283G	V	-	2	0	SEPT8	132125163	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.339000	0.96797	2.000000	0.58554	0.459000	0.35465	GTG	SEPT8	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000164402		0.602	SEPT8-002	KNOWN	basic|CCDS	protein_coding	SEPT8	HGNC	protein_coding	OTTHUMT00000132827.2	64	0.00	0	A	XM_034872		132097264	132097264	-1	no_errors	ENST00000378719	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	C
SEPW1	6415	genome.wustl.edu	37	19	48284389	48284389	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:48284389A>C	ENST00000601048.1	+	4	347	c.133A>C	c.(133-135)Acc>Ccc	p.T45P	SEPW1_ENST00000595615.1_Missense_Mutation_p.T45P|SEPW1_ENST00000593892.1_Missense_Mutation_p.T45P|SEPW1_ENST00000509570.2_Missense_Mutation_p.T46P|SEPW1_ENST00000601419.1_3'UTR	NM_003009.2	NP_003000.1	P63302	SELW_HUMAN	selenoprotein W, 1	45					cell redox homeostasis (GO:0045454)	cytoplasm (GO:0005737)	antioxidant activity (GO:0016209)|selenium binding (GO:0008430)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		TCCCCAGGCCACCGGGTTCTT	0.587																																						dbGAP											0													186.0	177.0	180.0					19																	48284389		1898	4121	6019	-	-	-	SO:0001583	missense	0			U67171	CCDS59402.1	19q13.33	2012-05-22			ENSG00000178980	ENSG00000178980			10752	protein-coding gene	gene with protein product		603235				9256076	Standard	NM_003009		Approved	selW	uc021uwp.1	P63302		ENST00000601048.1:c.133A>C	19.37:g.48284389A>C	ENSP00000473185:p.Thr45Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRR7|O15532|O19096|Q86TI9|Q96KM5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.T46P	ENST00000601048.1	37	c.136	CCDS59402.1	19	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759138	0.31137	.	.	ENSG00000178980	ENST00000509570	T	0.43688	0.94	4.14	4.14	0.48551	Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000005	T	0.61949	0.2388	.	.	.	0.36635	D	0.876533	D	0.76494	0.999	D	0.81914	0.995	T	0.71510	-0.4571	9	0.87932	D	0	-6.0758	9.8846	0.41253	1.0:0.0:0.0:0.0	.	45	P63302	SELW_HUMAN	P	46	ENSP00000422644:T46P	ENSP00000422644:T46P	T	+	1	0	AC008745.1	52976201	1.000000	0.71417	0.980000	0.43619	0.630000	0.37929	3.795000	0.55499	1.663000	0.50791	0.374000	0.22700	ACC	SEPW1	-	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	ENSG00000178980		0.587	SEPW1-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS|seleno	protein_coding	SEPW1	HGNC	protein_coding	OTTHUMT00000464884.1	222	0.00	0	A	NM_003009		48284389	48284389	+1	no_errors	ENST00000509570	ensembl	human	known	69_37n	missense	209	12.92	31	SNP	0.998	C
SERINC5	256987	genome.wustl.edu	37	5	79465268	79465268	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79465268A>C	ENST00000507668.2	-	6	803	c.653T>G	c.(652-654)gTg>gGg	p.V218G	SERINC5_ENST00000512721.1_Missense_Mutation_p.V218G|SERINC5_ENST00000509193.1_Missense_Mutation_p.V218G|SERINC5_ENST00000512972.2_Missense_Mutation_p.V218G	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	218					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TGTATAAAACACTGCCATCAA	0.502																																						dbGAP											0													90.0	88.0	88.0					5																	79465268		1953	4146	6099	-	-	-	SO:0001583	missense	0			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.653T>G	5.37:g.79465268A>C	ENSP00000426237:p.Val218Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	pfam_TMS_TDE	p.V218G	ENST00000507668.2	37	c.653	CCDS54873.1	5	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831883	0.32421	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.38	4.22	0.49857	.	0.601209	0.19148	N	0.121522	T	0.29223	0.0727	M	0.65975	2.015	0.41386	D	0.987583	P;P;P;P	0.52316	0.952;0.714;0.822;0.952	P;B;P;P	0.51550	0.625;0.419;0.673;0.625	T	0.03034	-1.1080	10	0.39692	T	0.17	.	13.5626	0.61799	0.8625:0.1375:0.0:0.0	.	218;218;218;218	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	G	218;217;218;218;218	ENSP00000426237:V218G;ENSP00000426134:V218G;ENSP00000421665:V218G;ENSP00000420863:V218G	ENSP00000327542:V217G	V	-	2	0	SERINC5	79501024	0.616000	0.27035	0.672000	0.29872	0.174000	0.22865	5.628000	0.67791	2.262000	0.75019	0.528000	0.53228	GTG	SERINC5	-	pfam_TMS_TDE	ENSG00000164300		0.502	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		78	0.00	0	A	NM_178276		79465268	79465268	-1	no_errors	ENST00000509193	ensembl	human	known	69_37n	missense	96	14.91	17	SNP	0.390	C
SERPINA11	256394	genome.wustl.edu	37	14	94914955	94914955	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94914955T>G	ENST00000334708.3	-	2	221	c.157A>C	c.(157-159)Acc>Ccc	p.T53P	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTGGTAATGGTGGGTGTGATT	0.567																																						dbGAP											0													124.0	135.0	131.0					14																	94914955		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.157A>C	14.37:g.94914955T>G	ENSP00000335024:p.Thr53Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RV07	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.T53P	ENST00000334708.3	37	c.157	CCDS32149.1	14	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578662	0.46006	.	.	ENSG00000186910	ENST00000334708	D	0.87887	-2.31	4.85	2.51	0.30379	Serpin domain (1);	0.317329	0.26474	N	0.024178	D	0.84741	0.5539	L	0.51422	1.61	0.30246	N	0.794512	P	0.48834	0.916	P	0.51550	0.673	T	0.78952	-0.2001	10	0.37606	T	0.19	.	4.6125	0.12409	0.1407:0.1471:0.0:0.7122	.	53	Q86U17	SPA11_HUMAN	P	53	ENSP00000335024:T53P	ENSP00000335024:T53P	T	-	1	0	SERPINA11	93984708	0.997000	0.39634	0.998000	0.56505	0.578000	0.36192	1.679000	0.37597	0.365000	0.24400	0.533000	0.62120	ACC	SERPINA11	-	superfamily_Sepin_dom	ENSG00000186910		0.567	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA11	HGNC	protein_coding	OTTHUMT00000413091.1	262	0.75	2	T	NM_001080451		94914955	94914955	-1	no_errors	ENST00000334708	ensembl	human	known	69_37n	missense	235	10.86	29	SNP	0.891	G
SERPINA12	145264	genome.wustl.edu	37	14	94956064	94956064	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94956064T>G	ENST00000341228.2	-	5	1741	c.946A>C	c.(946-948)Acc>Ccc	p.T316P	SERPINA12_ENST00000556881.1_Missense_Mutation_p.T316P	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	316					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGGTCGAAGGTGCCCGTCATG	0.527																																						dbGAP											0													141.0	110.0	121.0					14																	94956064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.946A>C	14.37:g.94956064T>G	ENSP00000342109:p.Thr316Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.T316P	ENST00000341228.2	37	c.946	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397698	0.42512	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84730	-1.89;-1.89	5.16	5.16	0.70880	Serpin domain (3);	0.400315	0.23987	N	0.042615	D	0.91321	0.7263	M	0.85859	2.78	0.09310	N	0.999995	D	0.58268	0.982	P	0.59761	0.863	D	0.85626	0.1267	10	0.52906	T	0.07	.	13.0173	0.58764	0.0:0.0:0.0:1.0	.	316	Q8IW75	SPA12_HUMAN	P	316	ENSP00000451738:T316P;ENSP00000342109:T316P	ENSP00000342109:T316P	T	-	1	0	SERPINA12	94025817	0.213000	0.23551	0.003000	0.11579	0.047000	0.14425	1.203000	0.32284	2.061000	0.61500	0.459000	0.35465	ACC	SERPINA12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000165953		0.527	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	75	0.00	0	T	NM_173850		94956064	94956064	-1	no_errors	ENST00000341228	ensembl	human	known	69_37n	missense	83	15.31	15	SNP	0.058	G
SERPINA7	6906	genome.wustl.edu	37	X	105279125	105279125	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:105279125A>C	ENST00000327674.4	-	2	1209	c.874T>G	c.(874-876)Tgg>Ggg	p.W292G	SERPINA7_ENST00000372563.1_Missense_Mutation_p.W292G|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	292					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AAGCGGTTCCACTTCTTCAGT	0.488																																						dbGAP											0													220.0	208.0	212.0					X																	105279125		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.874T>G	X.37:g.105279125A>C	ENSP00000329374:p.Trp292Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUX1	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.W292G	ENST00000327674.4	37	c.874	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854124	0.51270	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.86366	-2.11;-2.11	4.63	4.63	0.57726	Serpin domain (3);	0.000000	0.64402	D	0.000007	D	0.94079	0.8102	M	0.92691	3.335	0.43207	D	0.995064	D	0.89917	1.0	D	0.97110	1.0	D	0.94488	0.7699	10	0.87932	D	0	.	9.4437	0.38684	1.0:0.0:0.0:0.0	.	292	P05543	THBG_HUMAN	G	292	ENSP00000329374:W292G;ENSP00000361644:W292G	ENSP00000329374:W292G	W	-	1	0	SERPINA7	105165781	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.210000	0.72176	1.831000	0.53308	0.481000	0.45027	TGG	SERPINA7	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000123561		0.488	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	451	0.00	0	A	NM_000354		105279125	105279125	-1	no_errors	ENST00000327674	ensembl	human	known	69_37n	missense	335	10.13	38	SNP	1.000	C
SERPINA9	327657	genome.wustl.edu	37	14	94942557	94942557	+	5'Flank	SNP	A	A	C	rs537664780		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94942557A>C	ENST00000380365.3	-	0	0				SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000298845.7_5'Flank|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000546329.1_Missense_Mutation_p.V12G|SERPINA9_ENST00000337425.5_5'UTR|SERPINA9_ENST00000448305.2_5'Flank			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ctctctcctcactttaatctc	0.473													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20905	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													223.0	221.0	222.0					14																	94942557		2037	4191	6228	-	-	-	SO:0001631	upstream_gene_variant	0			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710		14.37:g.94942557A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V12G	ENST00000380365.3	37	c.35		14	.	.	.	.	.	.	.	.	.	.	A	7.185	0.590272	0.13812	.	.	ENSG00000170054	ENST00000546329	D	0.82167	-1.58	1.85	0.718	0.18202	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.09310	N	0.999999	B	0.31968	0.349	B	0.22753	0.041	T	0.50065	-0.8871	7	.	.	.	.	3.1203	0.06388	0.7406:0.0:0.2594:0.0	.	12	Q86WD7-4	.	G	12	ENSP00000445476:V12G	.	V	-	2	0	SERPINA9	94012310	0.000000	0.05858	0.093000	0.20910	0.586000	0.36452	-0.665000	0.05286	0.202000	0.20498	0.416000	0.27883	GTG	SERPINA9	-	NULL	ENSG00000170054		0.473	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	272	0.37	1	A	NM_175739		94942557	94942557	-1	no_errors	ENST00000546329	ensembl	human	known	69_37n	missense	197	15.38	36	SNP	0.149	C
SERPINB12	89777	genome.wustl.edu	37	18	61232745	61232745	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:61232745T>G	ENST00000269491.1	+	6	713	c.713T>G	c.(712-714)gTg>gGg	p.V238G	SERPINB12_ENST00000382768.1_Missense_Mutation_p.V258G	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	238					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ATAGAGGAGGTGAAGGCACAG	0.483																																						dbGAP											0													158.0	139.0	146.0					18																	61232745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.713T>G	18.37:g.61232745T>G	ENSP00000269491:p.Val238Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYB4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V238G	ENST00000269491.1	37	c.713	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395834	0.42512	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82893	-1.66;-1.66	5.59	5.59	0.84812	Serpin domain (3);	0.704404	0.12673	N	0.448613	D	0.83348	0.5235	L	0.39147	1.195	0.43766	D	0.996285	P;P	0.46512	0.813;0.879	P;P	0.51135	0.66;0.536	T	0.81602	-0.0858	10	0.52906	T	0.07	.	12.3322	0.55046	0.1263:0.0:0.0:0.8737	.	258;238	Q3SYB4;Q96P63	.;SPB12_HUMAN	G	238;258	ENSP00000269491:V238G;ENSP00000372218:V258G	ENSP00000269491:V238G	V	+	2	0	SERPINB12	59383725	0.008000	0.16893	0.309000	0.25155	0.076000	0.17211	1.785000	0.38684	2.254000	0.74563	0.528000	0.53228	GTG	SERPINB12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166634		0.483	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	207	0.95	2	T	NM_080474		61232745	61232745	+1	no_errors	ENST00000269491	ensembl	human	known	69_37n	missense	194	15.58	36	SNP	0.954	G
SERPINB13	5275	genome.wustl.edu	37	18	61256948	61256948	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:61256948T>G	ENST00000344731.5	+	3	326	c.224T>G	c.(223-225)gTg>gGg	p.V75G	SERPINB13_ENST00000269489.5_Splice_Site_p.V75G	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	75				Missing (in Ref. 1; CAA04937). {ECO:0000305}.	negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAAAGAGGTGGTAAGAATA	0.418																																						dbGAP											0													73.0	63.0	66.0					18																	61256948		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.225+1T>G	18.37:g.61256948T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Splice_Site	SNP	-	e2+2	ENST00000344731.5	37	c.222+2	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	T	4.845	0.157022	0.09236	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	D;D;D;D	0.85171	-1.95;-1.73;-1.77;-1.89	0.158	0.158	0.14942	Serpin domain (3);	.	.	.	.	T	0.69477	0.3115	N	0.11427	0.14	0.36923	D	0.891492	B;P	0.37914	0.001;0.611	B;B	0.39876	0.001;0.312	T	0.62746	-0.6789	8	0.23302	T	0.38	.	.	.	.	.	75;75	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	G	105;75;75;75;54	ENSP00000388300:V105G;ENSP00000269489:V75G;ENSP00000341584:V75G;ENSP00000391156:V54G	ENSP00000269489:V75G	V	+	2	0	SERPINB13	59407928	0.977000	0.34250	0.818000	0.32626	0.084000	0.17831	1.103000	0.31062	0.175000	0.19841	0.172000	0.16884	GTG	SERPINB13	-	-	ENSG00000197641		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	213	0.00	0	T	NM_012397	Missense_Mutation	61256948	61256948	+1	no_errors	ENST00000438844	ensembl	human	known	69_37n	splice_site	150	16.11	29	SNP	0.855	G
SERPINB13	5275	genome.wustl.edu	37	18	61264263	61264263	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:61264263T>G	ENST00000344731.5	+	8	944	c.842T>G	c.(841-843)gTg>gGg	p.V281G	SERPINB13_ENST00000269489.5_Missense_Mutation_p.V229G	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	281					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAGAAAGGTGAATCTGCAC	0.473																																						dbGAP											0													102.0	100.0	101.0					18																	61264263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.842T>G	18.37:g.61264263T>G	ENSP00000341584:p.Val281Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V281G	ENST00000344731.5	37	c.842	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468441	0.84533	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	T;D	0.85171	2.48;-1.95	5.3	5.3	0.74995	Serpin domain (3);	0.000000	0.47455	D	0.000235	D	0.92234	0.7537	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.93281	0.6660	10	0.87932	D	0	.	14.4454	0.67345	0.0:0.0:0.0:1.0	.	290;199;281	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	G	229;199;281	ENSP00000269489:V229G;ENSP00000341584:V281G	ENSP00000269489:V229G	V	+	2	0	SERPINB13	59415243	1.000000	0.71417	0.251000	0.24312	0.241000	0.25554	7.639000	0.83342	2.018000	0.59344	0.455000	0.32223	GTG	SERPINB13	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000197641		0.473	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	204	0.48	1	T	NM_012397		61264263	61264263	+1	no_errors	ENST00000344731	ensembl	human	known	69_37n	missense	149	15.64	28	SNP	0.981	G
SERPINB9	5272	genome.wustl.edu	37	6	2890549	2890549	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:2890549T>G	ENST00000380698.4	-	7	1068	c.979A>C	c.(979-981)Acc>Ccc	p.T327P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	327					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGCCTCGGTGCCTTCTTCA	0.547																																						dbGAP											0													106.0	94.0	98.0					6																	2890549		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.979A>C	6.37:g.2890549T>G	ENSP00000370074:p.Thr327Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Serpin_B9/Maspin	p.T327P	ENST00000380698.4	37	c.979	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889397	0.52014	.	.	ENSG00000170542	ENST00000380698	D	0.85955	-2.05	4.66	3.47	0.39725	Serpin domain (3);	0.044857	0.85682	D	0.000000	D	0.93232	0.7844	H	0.97516	4.02	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93836	0.7132	10	0.87932	D	0	.	10.4062	0.44258	0.1468:0.0:0.0:0.8532	.	327	P50453	SPB9_HUMAN	P	327	ENSP00000370074:T327P	ENSP00000370074:T327P	T	-	1	0	SERPINB9	2835548	1.000000	0.71417	0.778000	0.31720	0.178000	0.23041	4.750000	0.62162	0.847000	0.35167	-0.333000	0.08304	ACC	SERPINB9	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000170542		0.547	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	187	0.53	1	T			2890549	2890549	-1	no_errors	ENST00000380698	ensembl	human	known	69_37n	missense	180	13.74	29	SNP	1.000	G
SERPINB6	5269	genome.wustl.edu	37	6	2948932	2948932	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:2948932A>C	ENST00000380520.1	-	6	2725	c.731T>G	c.(730-732)gTg>gGg	p.V244G	SERPINB6_ENST00000380539.1_Splice_Site_p.V244G|SERPINB6_ENST00000380529.1_Splice_Site_p.V244G|SERPINB6_ENST00000380546.3_Splice_Site_p.V244G|SERPINB6_ENST00000380524.1_Splice_Site_p.V244G|SERPINB6_ENST00000335686.5_Splice_Site_p.V244G			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	244					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TTCTTTCTCCACCTAGAGGGA	0.547																																						dbGAP											0													143.0	145.0	144.0					6																	2948932		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.730-1T>G	6.37:g.2948932A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V244G	ENST00000380520.1	37	c.731	CCDS4479.1	6	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778336	0.70107	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	4.67	4.67	0.58626	Serpin domain (3);	0.187363	0.47093	D	0.000241	D	0.93943	0.8061	H	0.97158	3.95	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.95607	0.8668	10	0.87932	D	0	.	13.6873	0.62524	1.0:0.0:0.0:0.0	.	244	P35237	SPB6_HUMAN	G	244	ENSP00000369896:V244G;ENSP00000369891:V244G;ENSP00000338358:V244G;ENSP00000369901:V244G;ENSP00000369912:V244G;ENSP00000369919:V244G	ENSP00000338358:V244G	V	-	2	0	SERPINB6	2893931	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.011000	0.93618	2.070000	0.61991	0.374000	0.22700	GTG	SERPINB6	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000124570		0.547	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB6	HGNC	protein_coding	OTTHUMT00000043422.1	183	0.54	1	A		Missense_Mutation	2948932	2948932	-1	no_errors	ENST00000335686	ensembl	human	known	69_37n	missense	154	15.85	29	SNP	1.000	C
SERPINI2	5276	genome.wustl.edu	37	3	167183401	167183401	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:167183401A>C	ENST00000476257.1	-	5	837	c.539T>G	c.(538-540)gTg>gGg	p.V180G	SERPINI2_ENST00000461846.1_Missense_Mutation_p.V180G|SERPINI2_ENST00000471111.1_Missense_Mutation_p.V180G|SERPINI2_ENST00000264677.4_Missense_Mutation_p.V180G			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	180					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AATAGCATTCACCAGGACAAG	0.383																																						dbGAP											0													52.0	53.0	52.0					3																	167183401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.539T>G	3.37:g.167183401A>C	ENSP00000420621:p.Val180Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V180G	ENST00000476257.1	37	c.539	CCDS3200.1	3	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121621	0.77436	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.74	5.74	0.90152	Serpin domain (3);	0.125508	0.53938	D	0.000042	D	0.93543	0.7939	M	0.83852	2.665	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94313	0.7547	10	0.87932	D	0	.	14.0054	0.64461	1.0:0.0:0.0:0.0	.	180;180	B4DDY9;O75830	.;SPI2_HUMAN	G	180	ENSP00000420621:V180G;ENSP00000417692:V180G;ENSP00000264677:V180G;ENSP00000419407:V180G;ENSP00000417752:V180G	ENSP00000264677:V180G	V	-	2	0	SERPINI2	168666095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.401000	0.66326	2.196000	0.70406	0.533000	0.62120	GTG	SERPINI2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000114204		0.383	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	138	0.00	0	A	NM_006217		167183401	167183401	-1	no_errors	ENST00000264677	ensembl	human	known	69_37n	missense	89	23.28	27	SNP	1.000	C
SETBP1	26040	genome.wustl.edu	37	18	42530953	42530953	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:42530953A>C	ENST00000282030.5	+	4	1944	c.1648A>C	c.(1648-1650)Acc>Ccc	p.T550P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	550						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGTTATGGCCACCTCTGATAA	0.502									Schinzel-Giedion syndrome																													dbGAP											0													157.0	159.0	158.0					18																	42530953		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1648A>C	18.37:g.42530953A>C	ENSP00000282030:p.Thr550Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.T550P	ENST00000282030.5	37	c.1648	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	5.468	0.271385	0.10349	.	.	ENSG00000152217	ENST00000282030	T	0.69806	-0.43	6.08	3.62	0.41486	.	0.124732	0.56097	D	0.000027	T	0.44201	0.1282	N	0.12746	0.255	0.29036	N	0.885418	B	0.02656	0.0	B	0.06405	0.002	T	0.32295	-0.9912	10	0.40728	T	0.16	.	6.9728	0.24658	0.5107:0.2482:0.0:0.2411	.	550	Q9Y6X0	SETBP_HUMAN	P	550	ENSP00000282030:T550P	ENSP00000282030:T550P	T	+	1	0	SETBP1	40784951	0.966000	0.33281	1.000000	0.80357	0.990000	0.78478	1.710000	0.37920	0.486000	0.27676	0.533000	0.62120	ACC	SETBP1	-	NULL	ENSG00000152217		0.502	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	355	0.00	0	A	NM_001130110		42530953	42530953	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	missense	393	10.48	46	SNP	0.998	C
SETD5	55209	genome.wustl.edu	37	3	9506511	9506511	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:9506511A>C	ENST00000406341.1	+	17	2914				SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Intron|SETD5_ENST00000407969.1_Intron|SETD5_ENST00000402198.1_Intron|SETD5_ENST00000402466.1_Intron			Q9C0A6	SETD5_HUMAN	SET domain containing 5											NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTGGCCTGTTACCTGGTAGCC	0.418																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2724+155A>C	3.37:g.9506511A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	RNA	SNP	-	NULL	ENST00000406341.1	37	NULL	CCDS46741.1	3																																																																																			SETD5	-	-	ENSG00000168137		0.418	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	73	0.00	0	A	XM_371614		9506511	9506511	+1	no_errors	ENST00000488236	ensembl	human	known	69_37n	rna	77	18.56	18	SNP	0.150	C
SETDB1	9869	genome.wustl.edu	37	1	150935494	150935494	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:150935494T>G	ENST00000271640.5	+	19	3526	c.3336T>G	c.(3334-3336)agT>agG	p.S1112R	SETDB1_ENST00000368969.4_Missense_Mutation_p.S1112R|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1112	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGGGAAAGTGGGACCAGCC	0.527																																						dbGAP											0													78.0	63.0	68.0					1																	150935494		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3336T>G	1.37:g.150935494T>G	ENSP00000271640:p.Ser1112Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.S1112R	ENST00000271640.5	37	c.3336	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840450	0.71488	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.87966	-2.32;-2.32;1.1	5.55	1.99	0.26369	SET domain (3);	0.300023	0.38548	N	0.001660	T	0.67487	0.2898	L	0.34521	1.04	0.80722	D	1	B;B;B	0.26445	0.058;0.123;0.149	B;B;B	0.31245	0.076;0.077;0.126	T	0.60250	-0.7300	10	0.31617	T	0.26	.	7.9784	0.30168	0.0:0.3426:0.0:0.6574	.	1112;1112;1112	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	R	1112	ENSP00000271640:S1112R;ENSP00000357965:S1112R;ENSP00000432348:S1112R	ENSP00000271640:S1112R	S	+	3	2	SETDB1	149202118	0.990000	0.36364	1.000000	0.80357	0.981000	0.71138	0.081000	0.14823	0.400000	0.25396	0.459000	0.35465	AGT	SETDB1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.527	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	95	0.00	0	T			150935494	150935494	+1	no_errors	ENST00000271640	ensembl	human	known	69_37n	missense	192	13.90	31	SNP	1.000	G
SFMBT1	51460	genome.wustl.edu	37	3	52941319	52941319	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:52941319A>C	ENST00000394752.3	-	19	2479	c.2097T>G	c.(2095-2097)ggT>ggG	p.G699G	SFMBT1_ENST00000358080.2_Silent_p.G699G|SFMBT1_ENST00000296295.6_Silent_p.G699G|SFMBT1_ENST00000394750.1_Silent_p.G699G	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	699					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCTCATCTTCACCCCCACTTC	0.418																																						dbGAP											0													141.0	125.0	131.0					3																	52941319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2097T>G	3.37:g.52941319A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.G699	ENST00000394752.3	37	c.2097	CCDS2867.1	3																																																																																			SFMBT1	-	NULL	ENSG00000163935		0.418	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	200	0.00	0	A	NM_016329		52941319	52941319	-1	no_errors	ENST00000358080	ensembl	human	known	69_37n	silent	247	12.72	36	SNP	0.955	C
SFMBT2	57713	genome.wustl.edu	37	10	7325873	7325873	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:7325873T>G	ENST00000361972.4	-	6	855	c.765A>C	c.(763-765)ccA>ccC	p.P255P	SFMBT2_ENST00000397167.1_Silent_p.P255P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	255					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TACCTGAAGGTGGGTCCATTC	0.398																																						dbGAP											0													133.0	126.0	128.0					10																	7325873		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.765A>C	10.37:g.7325873T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.P255	ENST00000361972.4	37	c.765	CCDS31138.1	10																																																																																			SFMBT2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000198879		0.398	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	211	0.00	0	T	NM_001029880		7325873	7325873	-1	no_errors	ENST00000361972	ensembl	human	known	69_37n	silent	203	15.29	37	SNP	1.000	G
SFPQ	6421	genome.wustl.edu	37	1	35650153	35650153	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:35650153A>C	ENST00000357214.5	-	10	2126	c.2028T>G	c.(2026-2028)ggT>ggG	p.G676G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	676					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GACCCTGTCCACCCACAGGCC	0.488			T	TFE3	papillary renal cell																																	dbGAP		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													111.0	107.0	108.0					1																	35650153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.2028T>G	1.37:g.35650153A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P30808|Q5SZ71	Silent	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.G676	ENST00000357214.5	37	c.2028	CCDS388.1	1																																																																																			SFPQ	-	NULL	ENSG00000116560		0.488	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	132	0.00	0	A	NM_005066		35650153	35650153	-1	no_errors	ENST00000357214	ensembl	human	known	69_37n	silent	125	18.83	29	SNP	1.000	C
SGCA	6442	genome.wustl.edu	37	17	48245341	48245341	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:48245341A>C	ENST00000262018.3	+	4	382	c.346A>C	c.(346-348)Act>Cct	p.T116P	SGCA_ENST00000451235.2_Missense_Mutation_p.T14P|SGCA_ENST00000344627.6_Missense_Mutation_p.T116P|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000543315.1_Missense_Mutation_p.T116P	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	116					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTTGATACCACTCGGCAGAG	0.597																																						dbGAP											0													122.0	115.0	117.0					17																	48245341		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.346A>C	17.37:g.48245341A>C	ENSP00000262018:p.Thr116Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.T116P	ENST00000262018.3	37	c.346	CCDS32679.1	17	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800283	0.50208	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315;ENST00000451235;ENST00000511303	D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49	4.77	2.48	0.30137	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.416233	0.24720	N	0.036144	D	0.96772	0.8946	L	0.47716	1.5	0.31926	N	0.612756	D;D;P	0.71674	0.973;0.998;0.896	P;P;P	0.62298	0.825;0.9;0.625	D	0.94464	0.7679	10	0.37606	T	0.19	-13.6551	5.3171	0.15862	0.7462:0.0:0.2538:0.0	.	14;116;116	B7Z1L1;Q16586-2;Q16586	.;.;SGCA_HUMAN	P	116;116;116;14;23	ENSP00000345522:T116P;ENSP00000262018:T116P;ENSP00000444539:T116P;ENSP00000390371:T14P;ENSP00000426104:T23P	ENSP00000262018:T116P	T	+	1	0	SGCA	45600340	0.992000	0.36948	0.898000	0.35279	0.427000	0.31564	2.407000	0.44565	0.754000	0.32968	0.379000	0.24179	ACT	SGCA	-	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	ENSG00000108823		0.597	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1	125	0.00	0	A	NM_000023		48245341	48245341	+1	no_errors	ENST00000262018	ensembl	human	known	69_37n	missense	112	14.50	19	SNP	0.983	C
SGIP1	84251	genome.wustl.edu	37	1	67101647	67101647	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:67101647A>C	ENST00000371037.4	+	4	197	c.120A>C	c.(118-120)ccA>ccC	p.P40P	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	40					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CACACGAACCACCCTACAATA	0.368																																						dbGAP											0													99.0	100.0	99.0					1																	67101647		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.120A>C	1.37:g.67101647A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P40	ENST00000371037.4	37	c.120	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.368	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	218	0.00	0	A	NM_032291		67101647	67101647	+1	no_errors	ENST00000371037	ensembl	human	known	69_37n	silent	169	15.92	32	SNP	1.000	C
SGK1	6446	genome.wustl.edu	37	6	134492862	134492862	+	Silent	SNP	T	T	G	rs149193507	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:134492862T>G	ENST00000237305.7	-	9	883	c.795A>C	c.(793-795)gcA>gcC	p.A265A	SGK1_ENST00000367857.5_Silent_p.A255A|SGK1_ENST00000528577.1_Silent_p.A293A|SGK1_ENST00000367858.5_Silent_p.A360A|SGK1_ENST00000413996.3_Silent_p.A279A|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.A221A	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCACCTCAGGTGCGAGATACT	0.498																																						dbGAP											0													81.0	66.0	71.0					6																	134492862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.795A>C	6.37:g.134492862T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A360	ENST00000237305.7	37	c.1080	CCDS5170.1	6																																																																																			SGK1	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000118515		0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	50	0.00	0	T			134492862	134492862	-1	no_errors	ENST00000367858	ensembl	human	known	69_37n	silent	35	10.26	4	SNP	0.428	G
SH2D4A	63898	genome.wustl.edu	37	8	19221743	19221743	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:19221743A>C	ENST00000265807.3	+	7	1278	c.867A>C	c.(865-867)ccA>ccC	p.P289P	SH2D4A_ENST00000518040.1_Silent_p.P244P|SH2D4A_ENST00000519207.1_Silent_p.P289P	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	289					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTCCCCTTCCACCCAAGCCTC	0.512																																						dbGAP											0													74.0	71.0	72.0					8																	19221743		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.867A>C	8.37:g.19221743A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.P289	ENST00000265807.3	37	c.867	CCDS6009.1	8																																																																																			SH2D4A	-	NULL	ENSG00000104611		0.512	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D4A	HGNC	protein_coding	OTTHUMT00000214094.1	101	0.98	1	A	NM_022071		19221743	19221743	+1	no_errors	ENST00000265807	ensembl	human	known	69_37n	silent	85	20.37	22	SNP	0.827	C
SH3BGR	6450	genome.wustl.edu	37	21	40834397	40834397	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:40834397T>G	ENST00000333634.4	+	2	409	c.331T>G	c.(331-333)Tgg>Ggg	p.W111G	SH3BGR_ENST00000380637.3_5'UTR|SH3BGR_ENST00000458295.1_5'UTR|SH3BGR_ENST00000380631.1_5'UTR|SH3BGR_ENST00000380634.1_5'UTR	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	111					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CAACAGGAGGTGGATGAGAGA	0.428																																						dbGAP											0													111.0	120.0	117.0					21																	40834397		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.331T>G	21.37:g.40834397T>G	ENSP00000332513:p.Trp111Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.W111G	ENST00000333634.4	37	c.331	CCDS13666.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.986248|3.986248	0.74589|0.74589	.|.	.|.	ENSG00000185437|ENSG00000185437	ENST00000452550|ENST00000333634	.|T	.|0.75589	.|-0.95	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Thioredoxin-like fold (2);	.|0.107759	.|0.64402	.|D	.|0.000002	D|D	0.87720|0.87720	0.6248|0.6248	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.73380	.|0.98	D|D	0.89916|0.89916	0.4055|0.4055	5|10	.|0.62326	.|D	.|0.03	.|.	15.0028|15.0028	0.71486|0.71486	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|111	.|P55822	.|SH3BG_HUMAN	G|G	39|111	.|ENSP00000332513:W111G	.|ENSP00000332513:W111G	V|W	+|+	2|1	0|0	SH3BGR|SH3BGR	39756267|39756267	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.985000|0.985000	0.73830|0.73830	7.525000|7.525000	0.81892|0.81892	2.008000|2.008000	0.58898|0.58898	0.533000|0.533000	0.62120|0.62120	GTG|TGG	SH3BGR	-	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	ENSG00000185437		0.428	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	HGNC	protein_coding	OTTHUMT00000157377.6	127	0.78	1	T	NM_007341		40834397	40834397	+1	no_errors	ENST00000333634	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	G
SH3BGR	6450	genome.wustl.edu	37	21	40871772	40871772	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:40871772T>G	ENST00000333634.4	+	4	603	c.525T>G	c.(523-525)ggT>ggG	p.G175G	SH3BGR_ENST00000380637.3_Silent_p.G64G|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380631.1_Silent_p.G64G|SH3BGR_ENST00000380634.1_Silent_p.G64G	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	175	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CTGAAGAAGGTGGAGAAACTG	0.448																																						dbGAP											0													104.0	98.0	100.0					21																	40871772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.525T>G	21.37:g.40871772T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND59|D3DSI2|Q9BRB8	Silent	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.G175	ENST00000333634.4	37	c.525	CCDS13666.1	21																																																																																			SH3BGR	-	NULL	ENSG00000185437		0.448	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	HGNC	protein_coding	OTTHUMT00000157377.6	99	0.00	0	T	NM_007341		40871772	40871772	+1	no_errors	ENST00000333634	ensembl	human	known	69_37n	silent	102	17.74	22	SNP	0.472	G
SH3KBP1	30011	genome.wustl.edu	37	X	19702029	19702029	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:19702029A>C	ENST00000397821.3	-	6	928	c.638T>G	c.(637-639)gTg>gGg	p.V213G	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.V257G|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.V176G	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	213					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCAAAGCCCACTCCCTTAAC	0.483																																						dbGAP											0													174.0	151.0	159.0					X																	19702029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.638T>G	X.37:g.19702029A>C	ENSP00000380921:p.Val213Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.V213G	ENST00000397821.3	37	c.638	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064276	0.55432	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.56941	1.24;1.32;0.94;0.77;0.43;0.61	5.82	5.82	0.92795	.	0.709614	0.12847	N	0.434273	T	0.58032	0.2094	M	0.64404	1.975	0.80722	D	1	P;D	0.55385	0.93;0.971	B;P	0.45343	0.424;0.477	T	0.62029	-0.6940	10	0.87932	D	0	-11.8729	15.134	0.72549	1.0:0.0:0.0:0.0	.	213;176	Q96B97;Q5JPT5	SH3K1_HUMAN;.	G	198;213;121;176;193;257;160;121	ENSP00000380921:V213G;ENSP00000369020:V176G;ENSP00000369049:V193G;ENSP00000369019:V257G;ENSP00000388766:V160G;ENSP00000409292:V121G	ENSP00000369019:V257G	V	-	2	0	SH3KBP1	19611950	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.974000	0.88039	1.957000	0.56846	0.486000	0.48141	GTG	SH3KBP1	-	NULL	ENSG00000147010		0.483	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	301	0.66	2	A	NM_031892		19702029	19702029	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	350	13.12	53	SNP	1.000	C
SH3KBP1	30011	genome.wustl.edu	37	X	19713836	19713836	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:19713836A>C	ENST00000397821.3	-	5	704	c.414T>G	c.(412-414)ggT>ggG	p.G138G	SH3KBP1_ENST00000379697.3_Silent_p.G138G|SH3KBP1_ENST00000379698.4_Silent_p.G101G	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	138	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CGTTGAGAACACCTTCCCACC	0.483																																						dbGAP											0													135.0	110.0	118.0					X																	19713836		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.414T>G	X.37:g.19713836A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.G138	ENST00000397821.3	37	c.414	CCDS14193.1	X																																																																																			SH3KBP1	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000147010		0.483	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	192	0.52	1	A	NM_031892		19713836	19713836	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	silent	108	26.17	39	SNP	0.725	C
SH3BGRL	6451	genome.wustl.edu	37	X	80553021	80553021	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:80553021A>C	ENST00000373212.5	+	0	898				SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like						positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				CAAAGAAAACACCCTTCCCTC	0.348																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"""SH3 domain binding glutamic acid-rich protein like"""			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.*295A>C	X.37:g.80553021A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	RNA	SNP	-	NULL	ENST00000373212.5	37	NULL	CCDS14449.1	X																																																																																			SH3BGRL	-	-	ENSG00000131171		0.348	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGRL	HGNC	protein_coding	OTTHUMT00000057350.1	9	0.00	0	A	NM_003022		80553021	80553021	+1	no_errors	ENST00000463546	ensembl	human	known	69_37n	rna	2	71.43	5	SNP	0.000	C
SH3RF2	153769	genome.wustl.edu	37	5	145393577	145393577	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:145393577A>C	ENST00000511217.1	+	4	1064	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	SH3RF2_ENST00000359120.4_Missense_Mutation_p.T338P			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	338					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTGTGATCACCCAGCCCAT	0.552																																						dbGAP											0													105.0	104.0	105.0					5																	145393577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1012A>C	5.37:g.145393577A>C	ENSP00000424497:p.Thr338Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING	p.T338P	ENST00000511217.1	37	c.1012	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191905	0.38707	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.18338	2.22;2.22	5.42	2.7	0.31948	.	0.450131	0.22680	N	0.056959	T	0.07052	0.0179	N	0.19112	0.55	0.33878	D	0.635799	P	0.43169	0.8	B	0.32289	0.143	T	0.27020	-1.0086	10	0.39692	T	0.17	-16.6864	3.4246	0.07406	0.6527:0.0:0.1476:0.1997	.	338	Q8TEC5	SH3R2_HUMAN	P	338	ENSP00000352028:T338P;ENSP00000424497:T338P	ENSP00000352028:T338P	T	+	1	0	SH3RF2	145373770	0.995000	0.38212	1.000000	0.80357	0.545000	0.35147	1.721000	0.38032	0.968000	0.38212	-0.480000	0.04831	ACC	SH3RF2	-	NULL	ENSG00000156463		0.552	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	486	0.41	2	A	NM_152550		145393577	145393577	+1	no_errors	ENST00000359120	ensembl	human	known	69_37n	missense	434	13.86	70	SNP	1.000	C
SH3TC2	79628	genome.wustl.edu	37	5	148406644	148406644	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:148406644T>G	ENST00000515425.1	-	11	2752	c.2651A>C	c.(2650-2652)cAc>cCc	p.H884P	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.H431P|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H769P|SH3TC2_ENST00000512049.1_Missense_Mutation_p.H877P	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	884					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCTCAGGTGGCCAAGATT	0.552																																						dbGAP											0													94.0	97.0	96.0					5																	148406644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2651A>C	5.37:g.148406644T>G	ENSP00000423660:p.His884Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.H884P	ENST00000515425.1	37	c.2651	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474471	0.26423	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	6.16	4.99	0.66335	Tetratricopeptide-like helical (1);	0.420048	0.29046	N	0.013315	D	0.94056	0.8095	L	0.60455	1.87	0.28212	N	0.926876	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;D;D;D	0.68621	0.854;0.959;0.959;0.959	D	0.87427	0.2386	10	0.29301	T	0.29	-3.5361	5.3185	0.15868	0.1331:0.1318:0.0:0.7351	.	769;877;884;884	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	P	431;884;877;769	ENSP00000441427:H431P;ENSP00000423660:H884P;ENSP00000421860:H877P;ENSP00000377886:H769P	ENSP00000377886:H769P	H	-	2	0	SH3TC2	148386837	0.975000	0.34042	0.608000	0.28969	0.833000	0.47200	1.859000	0.39418	1.128000	0.42052	0.528000	0.53228	CAC	SH3TC2	-	NULL	ENSG00000169247		0.552	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	172	0.00	0	T	NM_024577		148406644	148406644	-1	no_errors	ENST00000515425	ensembl	human	known	69_37n	missense	100	16.53	20	SNP	0.608	G
SHCBP1	79801	genome.wustl.edu	37	16	46615912	46615912	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:46615912A>C	ENST00000303383.3	-	13	2014	c.1748T>G	c.(1747-1749)gTg>gGg	p.V583G		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	583					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TTCTAGATCCACTCTTTCAGC	0.378																																						dbGAP											0													121.0	122.0	122.0					16																	46615912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1748T>G	16.37:g.46615912A>C	ENSP00000306473:p.Val583Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.V583G	ENST00000303383.3	37	c.1748	CCDS10720.1	16	.	.	.	.	.	.	.	.	.	.	A	5.524	0.281553	0.10458	.	.	ENSG00000171241	ENST00000303383	T	0.24538	1.85	3.96	1.63	0.23807	.	0.876536	0.09974	N	0.731926	T	0.13372	0.0324	N	0.24115	0.695	0.19300	N	0.999977	B	0.06786	0.001	B	0.04013	0.001	T	0.36359	-0.9751	10	0.19147	T	0.46	-1.6922	2.1125	0.03706	0.4602:0.3028:0.09:0.147	.	583	Q8NEM2	SHCBP_HUMAN	G	583	ENSP00000306473:V583G	ENSP00000306473:V583G	V	-	2	0	SHCBP1	45173413	0.747000	0.28283	0.175000	0.22980	0.687000	0.40016	1.924000	0.40065	0.110000	0.17919	0.460000	0.39030	GTG	SHCBP1	-	NULL	ENSG00000171241		0.378	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	HGNC	protein_coding	OTTHUMT00000255740.1	328	0.00	0	A	NM_024745		46615912	46615912	-1	no_errors	ENST00000303383	ensembl	human	known	69_37n	missense	215	12.96	32	SNP	0.005	C
SHISA2	387914	genome.wustl.edu	37	13	26620750	26620750	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:26620750T>G	ENST00000319420.3	-	2	844	c.789A>C	c.(787-789)ccA>ccC	p.P263P		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	263					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CCATGAAAGGTGGCACAGCTG	0.572																																						dbGAP											0													120.0	100.0	107.0					13																	26620750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.789A>C	13.37:g.26620750T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH70|Q5W0G8	Silent	SNP	NULL	p.P263	ENST00000319420.3	37	c.789	CCDS31951.1	13																																																																																			SHISA2	-	NULL	ENSG00000180730		0.572	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA2	HGNC	protein_coding	OTTHUMT00000044239.2	53	0.00	0	T	NM_001007538		26620750	26620750	-1	no_errors	ENST00000319420	ensembl	human	known	69_37n	silent	39	22.00	11	SNP	0.023	G
SHISA4	149345	genome.wustl.edu	37	1	201860688	201860688	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:201860688A>C	ENST00000362011.6	+	4	826	c.539A>C	c.(538-540)aAc>aCc	p.N180T	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	180	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						CCAGTCTACAACCCTGCAGGT	0.607																																						dbGAP											0													86.0	89.0	88.0					1																	201860688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.539A>C	1.37:g.201860688A>C	ENSP00000355064:p.Asn180Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	NULL	p.N180T	ENST00000362011.6	37	c.539	CCDS1416.1	1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691401	0.48097	.	.	ENSG00000198892	ENST00000362011	T	0.41065	1.01	5.64	4.46	0.54185	.	0.222920	0.38381	N	0.001713	T	0.33498	0.0865	L	0.43152	1.355	0.37524	D	0.91766	P	0.35033	0.481	B	0.36244	0.22	T	0.25187	-1.0139	10	0.37606	T	0.19	-10.2242	7.5278	0.27666	0.8918:0.0:0.1082:0.0	.	180	Q96DD7	SHSA4_HUMAN	T	180	ENSP00000355064:N180T	ENSP00000355064:N180T	N	+	2	0	SHISA4	200127311	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.603000	0.36794	0.912000	0.36772	0.459000	0.35465	AAC	SHISA4	-	NULL	ENSG00000198892		0.607	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	141	0.69	1	A	NM_198149		201860688	201860688	+1	no_errors	ENST00000362011	ensembl	human	known	69_37n	missense	177	14.83	31	SNP	1.000	C
SHOC2	8036	genome.wustl.edu	37	10	112771491	112771491	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:112771491A>C	ENST00000369452.4	+	9	2009	c.1664A>C	c.(1663-1665)cAc>cCc	p.H555P	SHOC2_ENST00000265277.5_Missense_Mutation_p.H509P	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	555					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCACTCAGTCACCTTCCACCT	0.468																																						dbGAP											0													126.0	119.0	121.0					10																	112771491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1664A>C	10.37:g.112771491A>C	ENSP00000358464:p.His555Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H555P	ENST00000369452.4	37	c.1664	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387903	0.25031	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;D	0.83506	1.85;1.85;-1.73	5.64	5.64	0.86602	.	0.042116	0.85682	D	0.000000	T	0.72211	0.3432	N	0.22421	0.69	0.80722	D	1	B;B	0.26635	0.118;0.155	B;B	0.23574	0.047;0.04	T	0.68973	-0.5268	10	0.33940	T	0.23	.	12.3772	0.55287	0.8594:0.1406:0.0:0.0	.	509;555	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	P	509;555;345	ENSP00000265277:H509P;ENSP00000358464:H555P;ENSP00000408275:H345P	ENSP00000265277:H509P	H	+	2	0	SHOC2	112761481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.323000	0.79105	2.133000	0.65898	0.533000	0.62120	CAC	SHOC2	-	NULL	ENSG00000108061		0.468	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	152	0.00	0	A	NM_007373		112771491	112771491	+1	no_errors	ENST00000369452	ensembl	human	known	69_37n	missense	89	19.09	21	SNP	1.000	C
SI	6476	genome.wustl.edu	37	3	164758799	164758799	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:164758799T>G	ENST00000264382.3	-	18	2150	c.2088A>C	c.(2086-2088)ttA>ttC	p.L696F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	696	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGAGGAAGGGTAATAAGGTGT	0.368										HNSCC(35;0.089)																												dbGAP											0													137.0	139.0	139.0					3																	164758799		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2088A>C	3.37:g.164758799T>G	ENSP00000264382:p.Leu696Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.L696F	ENST00000264382.3	37	c.2088	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972546	0.34848	.	.	ENSG00000090402	ENST00000264382	D	0.93763	-3.28	4.48	-6.54	0.01860	Glycoside hydrolase, superfamily (1);	0.080490	0.49916	D	0.000127	D	0.95822	0.8640	H	0.95470	3.675	0.34867	D	0.743194	D	0.71674	0.998	D	0.67103	0.949	D	0.92491	0.6000	10	0.56958	D	0.05	.	6.0079	0.19557	0.126:0.5604:0.1282:0.1854	.	696	P14410	SUIS_HUMAN	F	696	ENSP00000264382:L696F	ENSP00000264382:L696F	L	-	3	2	SI	166241493	0.961000	0.32948	0.020000	0.16555	0.105000	0.19272	0.088000	0.14979	-1.253000	0.02488	-0.461000	0.05368	TTA	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	283	0.00	0	T	NM_001041		164758799	164758799	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	missense	197	15.81	37	SNP	0.567	G
SIAE	54414	genome.wustl.edu	37	11	124530604	124530604	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:124530604T>G	ENST00000263593.3	-	3	497	c.325A>C	c.(325-327)Acc>Ccc	p.T109P	SIAE_ENST00000545756.1_Missense_Mutation_p.T74P			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	109					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		ACTCTCAGGGTGAAGTTTATT	0.473																																						dbGAP											0													221.0	209.0	213.0					11																	124530604		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.325A>C	11.37:g.124530604T>G	ENSP00000263593:p.Thr109Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	pfam_DUF303_acetylest,superfamily_Esterase_SGNH_hydro-type	p.T109P	ENST00000263593.3	37	c.325	CCDS8449.1	11	.	.	.	.	.	.	.	.	.	.	T	8.580	0.882062	0.17467	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.85171	-1.95;-1.93	5.94	3.61	0.41365	.	0.323231	0.33253	N	0.005112	T	0.82029	0.4948	M	0.81942	2.565	0.09310	N	1	B;B	0.34161	0.033;0.439	B;B	0.32677	0.085;0.15	T	0.73167	-0.4068	10	0.42905	T	0.14	-0.2416	4.7326	0.12972	0.1401:0.1482:0.0:0.7117	.	74;109	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	P	109;74	ENSP00000263593:T109P;ENSP00000437877:T74P	ENSP00000263593:T109P	T	-	1	0	SIAE	124035814	0.964000	0.33143	0.012000	0.15200	0.011000	0.07611	2.513000	0.45494	0.488000	0.27723	-0.468000	0.05107	ACC	SIAE	-	NULL	ENSG00000110013		0.473	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	HGNC	protein_coding	OTTHUMT00000387070.1	636	0.47	3	T	NM_170601		124530604	124530604	-1	no_errors	ENST00000263593	ensembl	human	known	69_37n	missense	465	10.56	55	SNP	0.002	G
SIGLEC9	27180	genome.wustl.edu	37	19	51628889	51628889	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:51628889A>C	ENST00000250360.3	+	2	524	c.457A>C	c.(457-459)Acc>Ccc	p.T153P	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.T153P	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	153	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CATCCCAGGCACCCTGGAGTC	0.637																																						dbGAP											0													105.0	104.0	104.0					19																	51628889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.457A>C	19.37:g.51628889A>C	ENSP00000250360:p.Thr153Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.T153P	ENST00000250360.3	37	c.457	CCDS12825.1	19	.	.	.	.	.	.	.	.	.	.	.	1.882	-0.457604	0.04508	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.03181	4.02;4.02	2.58	0.241	0.15494	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.575070	0.14494	N	0.316172	T	0.03263	0.0095	L	0.46670	1.46	0.09310	N	1	B	0.21688	0.059	B	0.23419	0.046	T	0.42899	-0.9424	10	0.31617	T	0.26	.	1.6901	0.02850	0.5304:0.0:0.1784:0.2911	.	153	Q9Y336	SIGL9_HUMAN	P	153	ENSP00000413861:T153P;ENSP00000250360:T153P	ENSP00000250360:T153P	T	+	1	0	SIGLEC9	56320701	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.497000	0.06428	0.174000	0.19809	0.421000	0.28195	ACC	SIGLEC9	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000129450		0.637	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	124	0.00	0	A	NM_014441		51628889	51628889	+1	no_errors	ENST00000440804	ensembl	human	known	69_37n	missense	111	14.39	19	SNP	0.000	C
SIGLEC7	27036	genome.wustl.edu	37	19	51645822	51645822	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:51645822T>G	ENST00000317643.6	+	1	265	c.196T>G	c.(196-198)Ttc>Gtc	p.F66V	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.F66V|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.F66V	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	66	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGGCTACTGGTTCCGGGCAGG	0.577																																						dbGAP											0													115.0	97.0	103.0					19																	51645822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.196T>G	19.37:g.51645822T>G	ENSP00000323328:p.Phe66Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F66V	ENST00000317643.6	37	c.196	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	13.97	2.395817	0.42512	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.65732	-0.17;-0.17;-0.17	2.83	2.83	0.33086	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.181464	0.26650	N	0.023214	T	0.79793	0.4507	M	0.91510	3.215	0.09310	N	1	D;D;D	0.89917	1.0;0.978;1.0	D;P;D	0.91635	0.998;0.851;0.999	T	0.68697	-0.5340	10	0.87932	D	0	.	7.5177	0.27610	0.0:0.0:0.0:1.0	.	66;66;66	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	V	66	ENSP00000323328:F66V;ENSP00000306757:F66V;ENSP00000437609:F66V	ENSP00000306757:F66V	F	+	1	0	SIGLEC7	56337634	0.999000	0.42202	0.007000	0.13788	0.004000	0.04260	1.982000	0.40638	1.327000	0.45338	0.427000	0.28365	TTC	SIGLEC7	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000168995		0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	146	0.68	1	T	NM_016543		51645822	51645822	+1	no_errors	ENST00000317643	ensembl	human	known	69_37n	missense	107	15.50	20	SNP	0.023	G
SIGLEC14	100049587	genome.wustl.edu	37	19	52149091	52149091	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:52149091A>C	ENST00000360844.6	-	3	685	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTGGCGTTTCACCTGACAGGT	0.647																																						dbGAP											0													84.0	80.0	82.0					19																	52149091		2072	4197	6269	-	-	-	SO:0001583	missense	0			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.644T>G	19.37:g.52149091A>C	ENSP00000354090:p.Val215Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXG0	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V215G	ENST00000360844.6	37	c.644	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720852	0.48728	.	.	ENSG00000254415	ENST00000360844	D	0.89415	-2.51	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.94105	0.8110	M	0.90542	3.125	0.34889	D	0.745354	D	0.89917	1.0	D	0.78314	0.991	D	0.95341	0.8438	10	0.87932	D	0	.	7.8632	0.29522	1.0:0.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	G	215	ENSP00000354090:V215G	ENSP00000354090:V215G	V	-	2	0	SIGLEC14	56840903	0.049000	0.20398	0.206000	0.23566	0.794000	0.44872	2.081000	0.41596	1.432000	0.47375	0.421000	0.28195	GTG	SIGLEC14	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000254415		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	96	0.00	0	A	NM_001098612		52149091	52149091	-1	no_errors	ENST00000360844	ensembl	human	known	69_37n	missense	119	13.67	19	SNP	0.630	C
SIK2	23235	genome.wustl.edu	37	11	111591480	111591480	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:111591480A>C	ENST00000304987.3	+	11	1947	c.1774A>C	c.(1774-1776)Acc>Ccc	p.T592P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	592					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TACCTCCCTCACCCAGGGTGA	0.562																																						dbGAP											0													74.0	72.0	72.0					11																	111591480		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1774A>C	11.37:g.111591480A>C	ENSP00000305976:p.Thr592Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T592P	ENST00000304987.3	37	c.1774	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642029	0.87859	.	.	ENSG00000170145	ENST00000304987	T	0.78924	-1.22	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86618	0.1877	10	0.52906	T	0.07	.	15.4975	0.75666	1.0:0.0:0.0:0.0	.	592	Q9H0K1	SIK2_HUMAN	P	592	ENSP00000305976:T592P	ENSP00000305976:T592P	T	+	1	0	SIK2	111096690	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.623000	0.90957	2.324000	0.78689	0.533000	0.62120	ACC	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.562	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	114	0.00	0	A	NM_015191		111591480	111591480	+1	no_errors	ENST00000304987	ensembl	human	known	69_37n	missense	73	20.43	19	SNP	1.000	C
SIM2	6493	genome.wustl.edu	37	21	38098508	38098508	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:38098508T>G	ENST00000290399.6	+	6	1245	c.632T>G	c.(631-633)gTg>gGg	p.V211G	SIM2_ENST00000430056.3_Missense_Mutation_p.V211G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	211					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGGGCTGGTGGCCGTGGGC	0.552																																						dbGAP											0													120.0	106.0	111.0					21																	38098508		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.632T>G	21.37:g.38098508T>G	ENSP00000290399:p.Val211Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.V211G	ENST00000290399.6	37	c.632	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562625	0.86335	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.76448	-1.02;-1.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	D	0.92501	0.6008	10	0.87932	D	0	.	15.804	0.78477	0.0:0.0:0.0:1.0	.	211;211	Q14190;Q14190-2	SIM2_HUMAN;.	G	211	ENSP00000290399:V211G;ENSP00000404176:V211G	ENSP00000290399:V211G	V	+	2	0	SIM2	37020378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.505000	0.81655	2.193000	0.70182	0.533000	0.62120	GTG	SIM2	-	NULL	ENSG00000159263		0.552	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	54	0.00	0	T	NM_009586		38098508	38098508	+1	no_errors	ENST00000290399	ensembl	human	known	69_37n	missense	55	15.15	10	SNP	1.000	G
SIN3A	25942	genome.wustl.edu	37	15	75705178	75705178	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:75705178A>G	ENST00000394947.3	-	5	996	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P	SIN3A_ENST00000394949.4_Missense_Mutation_p.S228P|SIN3A_ENST00000360439.4_Missense_Mutation_p.S228P	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						gaaggctgggaaggatgttgg	0.567																																						dbGAP											0													146.0	120.0	129.0					15																	75705178		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.682T>C	15.37:g.75705178A>G	ENSP00000378402:p.Ser228Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.S228P	ENST00000394947.3	37	c.682	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270395	0.40194	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.8	4.65	0.58169	.	0.326564	0.33834	N	0.004517	T	0.32556	0.0833	N	0.21097	0.63	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06607	-1.0817	10	0.31617	T	0.26	-8.2171	10.7642	0.46283	0.8409:0.1591:0.0:0.0	.	228	Q96ST3	SIN3A_HUMAN	P	228	ENSP00000378402:S228P;ENSP00000378403:S228P;ENSP00000353622:S228P	ENSP00000353622:S228P	S	-	1	0	SIN3A	73492231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.642000	0.46596	0.997000	0.38969	0.459000	0.35465	TCC	SIN3A	-	NULL	ENSG00000169375		0.567	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	102	0.00	0	A	NM_015477		75705178	75705178	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	missense	138	10.97	17	SNP	1.000	G
SIPA1L1	26037	genome.wustl.edu	37	14	72139090	72139090	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:72139090T>G	ENST00000555818.1	+	9	3203	c.2855T>G	c.(2854-2856)gTg>gGg	p.V952G	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.V427G|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.V952G|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.V952G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	952					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGTGAATCGGTGGAGATGACT	0.458																																						dbGAP											0													121.0	99.0	106.0					14																	72139090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2855T>G	14.37:g.72139090T>G	ENSP00000450832:p.Val952Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.V952G	ENST00000555818.1	37	c.2855	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174872	0.57692	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.376195	0.31210	N	0.008054	T	0.46054	0.1373	M	0.72118	2.19	0.58432	D	0.999991	B;B;P;B;B	0.37548	0.202;0.394;0.599;0.217;0.008	B;B;B;B;B	0.41412	0.205;0.079;0.356;0.138;0.011	T	0.41840	-0.9486	10	0.32370	T	0.25	-16.0907	11.2142	0.48817	0.1368:0.0:0.0:0.8632	.	427;952;427;952;952	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	G	952;952;952;427	ENSP00000370630:V952G;ENSP00000450832:V952G;ENSP00000351352:V952G;ENSP00000440682:V427G	ENSP00000351352:V952G	V	+	2	0	SIPA1L1	71208843	0.998000	0.40836	0.992000	0.48379	0.961000	0.63080	2.354000	0.44098	2.199000	0.70637	0.533000	0.62120	GTG	SIPA1L1	-	superfamily_PDZ	ENSG00000197555		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	163	0.00	0	T	NM_015556		72139090	72139090	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	147	10.84	18	SNP	0.998	G
SIPA1L1	26037	genome.wustl.edu	37	14	72152208	72152208	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:72152208A>C	ENST00000555818.1	+	10	3582	c.3234A>C	c.(3232-3234)tcA>tcC	p.S1078S	SIPA1L1_ENST00000537413.1_Silent_p.S553S|SIPA1L1_ENST00000381232.3_Silent_p.S1078S|SIPA1L1_ENST00000358550.2_Silent_p.S1078S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1078					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCCTCATTCACCTCAAGTCC	0.507																																						dbGAP											0													62.0	60.0	61.0					14																	72152208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3234A>C	14.37:g.72152208A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.S1078	ENST00000555818.1	37	c.3234	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL	ENSG00000197555		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	250	0.79	2	A	NM_015556		72152208	72152208	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	silent	169	13.78	27	SNP	0.001	C
SIRPB1	10326	genome.wustl.edu	37	20	1551540	1551540	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:1551540A>C	ENST00000381605.4	-	4	1059	c.995T>G	c.(994-996)gTg>gGg	p.V332G	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	332	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATCATGCTCCACCTGACAGGT	0.562																																						dbGAP											0													204.0	176.0	186.0					20																	1551540		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.995T>G	20.37:g.1551540A>C	ENSP00000371018:p.Val332Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.V332G	ENST00000381605.4	37	c.995	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	16.87	3.241306	0.58995	.	.	ENSG00000101307	ENST00000381605	T	0.13778	2.56	2.51	2.51	0.30379	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000051	T	0.47673	0.1458	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55198	-0.8178	10	0.87932	D	0	.	6.8164	0.23833	1.0:0.0:0.0:0.0	.	332	O00241	SIRB1_HUMAN	G	332	ENSP00000371018:V332G	ENSP00000371018:V332G	V	-	2	0	SIRPB1	1499540	0.972000	0.33761	0.998000	0.56505	0.296000	0.27459	1.852000	0.39348	1.151000	0.42436	0.379000	0.24179	GTG	SIRPB1	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000101307		0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	180	0.55	1	A	NM_006065		1551540	1551540	-1	no_errors	ENST00000381605	ensembl	human	known	69_37n	missense	114	14.29	19	SNP	0.998	C
SIRPB1	10326	genome.wustl.edu	37	20	1552420	1552420	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:1552420T>G	ENST00000381605.4	-	3	761	c.697A>C	c.(697-699)Acc>Ccc	p.T233P	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	233	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCTGCAAGGTGATGTGGGCT	0.607																																						dbGAP											0													131.0	116.0	121.0					20																	1552420		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.697A>C	20.37:g.1552420T>G	ENSP00000371018:p.Thr233Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.T233P	ENST00000381605.4	37	c.697	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	9.439	1.087676	0.20390	.	.	ENSG00000101307	ENST00000381605	T	0.03094	4.05	2.47	2.47	0.30058	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.08447	0.0210	M	0.67700	2.07	0.22851	N	0.998655	P	0.36944	0.574	P	0.47673	0.554	T	0.05162	-1.0902	10	0.72032	D	0.01	.	6.8002	0.23746	0.0:0.0:0.0:1.0	.	233	O00241	SIRB1_HUMAN	P	233	ENSP00000371018:T233P	ENSP00000371018:T233P	T	-	1	0	SIRPB1	1500420	0.448000	0.25681	0.015000	0.15790	0.054000	0.15201	1.112000	0.31172	1.147000	0.42369	0.374000	0.22700	ACC	SIRPB1	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000101307		0.607	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	133	0.73	1	T	NM_006065		1552420	1552420	-1	no_errors	ENST00000381605	ensembl	human	known	69_37n	missense	114	14.81	20	SNP	0.016	G
SIRPB1	10326	genome.wustl.edu	37	20	1600565	1600565	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:1600565T>G	ENST00000381605.4	-	1	90	c.26A>C	c.(25-27)cAc>cCc	p.H9P	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.H9P|SIRPB1_ENST00000568365.1_Missense_Mutation_p.H9P|SIRPB1_ENST00000381603.3_Missense_Mutation_p.H9P|SIRPB1_ENST00000279477.7_Missense_Mutation_p.H9P|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	9					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACTAGGAAGGTGGGGCCAGGA	0.562																																						dbGAP											0													89.0	80.0	83.0					20																	1600565		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.26A>C	20.37:g.1600565T>G	ENSP00000371018:p.His9Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.H9P	ENST00000381605.4	37	c.26	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	10.56	1.383113	0.25031	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.12984	4.22;4.54;2.63	1.85	-3.69	0.04450	.	1.589690	0.04229	U	0.334999	T	0.27349	0.0671	M	0.69823	2.125	0.09310	N	1	D;D;D	0.67145	0.993;0.993;0.996	P;P;P	0.61201	0.675;0.675;0.885	T	0.31586	-0.9938	10	0.41790	T	0.15	.	3.9844	0.09509	0.0:0.4277:0.1896:0.3827	.	9;9;9	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	P	9	ENSP00000371018:H9P;ENSP00000371016:H9P;ENSP00000279477:H9P	ENSP00000279477:H9P	H	-	2	0	SIRPB1	1548565	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.172000	0.01266	-1.415000	0.02022	0.338000	0.21704	CAC	SIRPB1	-	NULL	ENSG00000101307		0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	58	0.00	0	T	NM_006065		1600565	1600565	-1	no_errors	ENST00000279477	ensembl	human	known	69_37n	missense	89	17.43	19	SNP	0.000	G
SLAIN2	57606	genome.wustl.edu	37	4	48384856	48384856	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:48384856A>C	ENST00000264313.6	+	5	1552	c.1134A>C	c.(1132-1134)ccA>ccC	p.P378P	SLAIN2_ENST00000512093.1_Silent_p.P185P	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	378					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						GAGTGTCCCCACAGCCTATGA	0.473																																						dbGAP											0													81.0	80.0	81.0					4																	48384856		1984	4157	6141	-	-	-	SO:0001819	synonymous_variant	0			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1134A>C	4.37:g.48384856A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P1|Q8N5R3	Silent	SNP	NULL	p.P378	ENST00000264313.6	37	c.1134	CCDS47051.1	4																																																																																			SLAIN2	-	NULL	ENSG00000109171		0.473	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	HGNC	protein_coding	OTTHUMT00000365807.4	77	0.00	0	A	NM_020846		48384856	48384856	+1	no_errors	ENST00000264313	ensembl	human	known	69_37n	silent	116	12.78	17	SNP	0.992	C
SLC12A2	6558	genome.wustl.edu	37	5	127522269	127522269	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:127522269A>C	ENST00000262461.2	+	27	3774	c.3585A>C	c.(3583-3585)ccA>ccC	p.P1195P	SLC12A2_ENST00000343225.4_Silent_p.P1179P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1195					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AGGACCTACCACCAATCCTCC	0.453																																						dbGAP											0													202.0	176.0	185.0					5																	127522269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3585A>C	5.37:g.127522269A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N713|Q8WWH7	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P1195	ENST00000262461.2	37	c.3585	CCDS4144.1	5																																																																																			SLC12A2	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.453	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	259	0.00	0	A	NM_001046		127522269	127522269	+1	no_errors	ENST00000262461	ensembl	human	known	69_37n	silent	215	12.24	30	SNP	0.902	C
SLC12A6	9990	genome.wustl.edu	37	15	34531306	34531306	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:34531306A>C	ENST00000354181.3	-	20	2984	c.2492T>G	c.(2491-2493)gTg>gGg	p.V831G	SLC12A6_ENST00000560611.1_Missense_Mutation_p.V831G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V822G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.V816G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V772G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V831G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V780G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V643G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V643G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V772G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	831					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTGGCGGCCACCACCAGCTG	0.552																																						dbGAP											0													173.0	162.0	165.0					15																	34531306		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2492T>G	15.37:g.34531306A>C	ENSP00000346112:p.Val831Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V822G	ENST00000354181.3	37	c.2465	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332369	0.81801	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	M	0.93763	3.455	0.80722	D	1	D;D;B;P	0.59357	0.985;0.984;0.366;0.956	D;P;B;P	0.63957	0.92;0.735;0.225;0.641	D	0.98554	1.0638	10	0.87932	D	0	.	13.7847	0.63102	1.0:0.0:0.0:0.0	.	816;831;780;643	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	780;816;822;772;772;643	ENSP00000290209:V780G;ENSP00000380819:V816G;ENSP00000380814:V772G;ENSP00000387725:V772G;ENSP00000390199:V643G	ENSP00000290209:V780G	V	-	2	0	SLC12A6	32318598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.120000	0.94369	2.078000	0.62432	0.455000	0.32223	GTG	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.552	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	236	0.84	2	A	NM_005135		34531306	34531306	-1	no_errors	ENST00000558589	ensembl	human	known	69_37n	missense	250	17.65	54	SNP	1.000	C
SLC13A2	9058	genome.wustl.edu	37	17	26817463	26817463	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:26817463A>C	ENST00000314669.5	+	3	651				SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000444914.3_Missense_Mutation_p.T124P	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCATGTCTCCACCTGCCAGGT	0.602																																						dbGAP											0													124.0	122.0	123.0					17																	26817463		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.232-9A>C	17.37:g.26817463A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T124P	ENST00000314669.5	37	c.370	CCDS11231.1	17	.	.	.	.	.	.	.	.	.	.	A	11.64	1.697572	0.30142	.	.	ENSG00000007216	ENST00000444914	T	0.02974	4.09	5.06	-2.66	0.06077	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47341	-0.9125	9	0.52906	T	0.07	.	0.6745	0.00864	0.2088:0.2493:0.2755:0.2663	.	124	E7ETH5	.	P	124	ENSP00000392411:T124P	ENSP00000392411:T124P	T	+	1	0	SLC13A2	23841590	0.000000	0.05858	0.012000	0.15200	0.004000	0.04260	-0.304000	0.08199	-0.221000	0.09973	-1.993000	0.00448	ACC	SLC13A2	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000007216		0.602	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	101	0.00	0	A	NM_003984		26817463	26817463	+1	no_errors	ENST00000444914	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	0.000	C
SLC13A3	64849	genome.wustl.edu	37	20	45188747	45188747	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:45188747T>G	ENST00000279027.4	-	13	1741	c.1723A>C	c.(1723-1725)Acc>Ccc	p.T575P	SLC13A3_ENST00000435032.1_Missense_Mutation_p.T160P|SLC13A3_ENST00000472148.1_Missense_Mutation_p.T493P|SLC13A3_ENST00000290317.5_Missense_Mutation_p.T528P|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T525P|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T493P|SLC13A3_ENST00000495082.1_Missense_Mutation_p.T528P	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	575					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TCCGGGAAGGTGCCCAGCTGG	0.557																																						dbGAP											0													177.0	148.0	158.0					20																	45188747		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1723A>C	20.37:g.45188747T>G	ENSP00000279027:p.Thr575Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T575P	ENST00000279027.4	37	c.1723	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389632	0.61956	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.34667	3.63;3.68;1.35;3.89;3.68;3.43;3.63	4.66	2.27	0.28462	.	0.539635	0.20850	N	0.084548	T	0.49695	0.1572	M	0.87381	2.88	0.80722	D	1	P;P;P;P;P;D	0.53462	0.919;0.954;0.915;0.855;0.863;0.96	P;P;P;P;P;P	0.51615	0.616;0.649;0.675;0.675;0.475;0.556	T	0.52946	-0.8507	10	0.66056	D	0.02	-42.4543	6.6106	0.22749	0.1366:0.0769:0.0:0.7865	.	525;160;493;528;477;575	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	P	528;493;160;575;493;525;528	ENSP00000290317:T528P;ENSP00000379648:T493P;ENSP00000403394:T160P;ENSP00000279027:T575P;ENSP00000420177:T493P;ENSP00000415852:T525P;ENSP00000419621:T528P	ENSP00000279027:T575P	T	-	1	0	SLC13A3	44622154	0.958000	0.32768	1.000000	0.80357	0.735000	0.41995	0.111000	0.15458	0.758000	0.33059	0.533000	0.62120	ACC	SLC13A3	-	NULL	ENSG00000158296		0.557	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	149	0.66	1	T			45188747	45188747	-1	no_errors	ENST00000279027	ensembl	human	known	69_37n	missense	157	11.73	21	SNP	0.998	G
SLC13A4	26266	genome.wustl.edu	37	7	135375976	135375976	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:135375976T>C	ENST00000354042.4	-	13	2105	c.1416A>G	c.(1414-1416)ggA>ggG	p.G472G	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	472					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAGCATAGCCTCCCCCAACCA	0.507																																						dbGAP											0													101.0	94.0	96.0					7																	135375976		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1416A>G	7.37:g.135375976T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Q4|Q8N631	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.G472	ENST00000354042.4	37	c.1416	CCDS5840.1	7																																																																																			SLC13A4	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	ENSG00000164707		0.507	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	96	0.00	0	T	NM_012450		135375976	135375976	-1	no_errors	ENST00000354042	ensembl	human	known	69_37n	silent	98	10.91	12	SNP	0.997	C
SLC14A2	8170	genome.wustl.edu	37	18	43247956	43247956	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:43247956A>C	ENST00000255226.6	+	14	2692	c.1876A>C	c.(1876-1878)Acc>Ccc	p.T626P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.T103P|SLC14A2_ENST00000586448.1_Missense_Mutation_p.T626P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	626					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCATGTCCACCTTGACAGC	0.562																																						dbGAP											0													116.0	109.0	111.0					18																	43247956		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1876A>C	18.37:g.43247956A>C	ENSP00000255226:p.Thr626Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.T626P	ENST00000255226.6	37	c.1876	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	a	17.12	3.308083	0.60305	.	.	ENSG00000132874	ENST00000255226	T	0.57107	0.42	4.52	4.52	0.55395	.	0.000000	0.50627	D	0.000102	T	0.80502	0.4635	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86902	0.2055	10	0.87932	D	0	-31.2903	14.0419	0.64681	1.0:0.0:0.0:0.0	.	626	Q15849	UT2_HUMAN	P	626	ENSP00000255226:T626P	ENSP00000255226:T626P	T	+	1	0	SLC14A2	41501954	1.000000	0.71417	0.992000	0.48379	0.211000	0.24417	8.312000	0.89976	1.912000	0.55364	0.456000	0.33151	ACC	SLC14A2	-	pfam_Urea_transporter	ENSG00000132874		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	158	0.63	1	A			43247956	43247956	+1	no_errors	ENST00000255226	ensembl	human	known	69_37n	missense	103	23.70	32	SNP	1.000	C
SLC16A10	117247	genome.wustl.edu	37	6	111498533	111498533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:111498533delA	ENST00000368851.5	+	3	782	c.607delA	c.(607-609)aatfs	p.N203fs	SLC16A10_ENST00000368850.3_De_novo_Start_OutOfFrame|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	203					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGGACTGGTGAATGGCATTGT	0.488																																						dbGAP											0													121.0	116.0	118.0					6																	111498533		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.607delA	6.37:g.111498533delA	ENSP00000357844:p.Asn203fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWY0|Q6ZMG0|Q8WVI5	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N203fs	ENST00000368851.5	37	c.607	CCDS5089.1	6																																																																																			SLC16A10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000112394		0.488	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A10	HGNC	protein_coding	OTTHUMT00000041822.2	103	0.00	0	A			111498533	111498533	+1	no_errors	ENST00000368851	ensembl	human	known	69_37n	frame_shift_del	70	10.00	8	DEL	1.000	-
SLC16A13	201232	genome.wustl.edu	37	17	6941834	6941834	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6941834A>C	ENST00000308027.6	+	3	1015	c.707A>C	c.(706-708)cAc>cCc	p.H236P		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	236						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCCTACCTCCACCTGGTGGCC	0.582																																						dbGAP											0													157.0	138.0	144.0					17																	6941834		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.707A>C	17.37:g.6941834A>C	ENSP00000309751:p.His236Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H236P	ENST00000308027.6	37	c.707	CCDS11085.1	17	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158420	0.78114	.	.	ENSG00000174327	ENST00000308027	T	0.58797	0.31	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.094145	0.64402	D	0.000001	T	0.79873	0.4521	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83907	0.0293	10	0.66056	D	0.02	.	13.7356	0.62815	1.0:0.0:0.0:0.0	.	236	Q7RTY0	MOT13_HUMAN	P	236	ENSP00000309751:H236P	ENSP00000309751:H236P	H	+	2	0	SLC16A13	6882558	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	6.836000	0.75349	2.127000	0.65507	0.460000	0.39030	CAC	SLC16A13	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000174327		0.582	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	88	0.00	0	A			6941834	6941834	+1	no_errors	ENST00000308027	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	C
SLC16A9	220963	genome.wustl.edu	37	10	61414049	61414049	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:61414049A>C	ENST00000395348.3	-	5	1371	c.735T>G	c.(733-735)ggT>ggG	p.G245G	SLC16A9_ENST00000395347.1_Silent_p.G245G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	245					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTTTCCAGTCACCATTGGCTA	0.378																																						dbGAP											0													266.0	249.0	255.0					10																	61414049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.735T>G	10.37:g.61414049A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMI2|Q9UFH8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G245	ENST00000395348.3	37	c.735	CCDS7256.1	10																																																																																			SLC16A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165449		0.378	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	470	0.21	1	A	NM_194298		61414049	61414049	-1	no_errors	ENST00000395347	ensembl	human	known	69_37n	silent	272	12.50	39	SNP	0.000	C
SLC17A4	10050	genome.wustl.edu	37	6	25776981	25776981	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:25776981T>G	ENST00000377905.4	+	9	1239				SLC17A4_ENST00000397076.2_Silent_p.G152G|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACACAGGGGTGAACGTGGGA	0.532																																						dbGAP											0													160.0	132.0	142.0					6																	25776981		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1120+26T>G	6.37:g.25776981T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.G152	ENST00000377905.4	37	c.456	CCDS4564.1	6																																																																																			SLC17A4	-	NULL	ENSG00000146039		0.532	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	178	0.56	1	T			25776981	25776981	+1	no_errors	ENST00000397076	ensembl	human	known	69_37n	silent	141	15.48	26	SNP	0.000	G
SLC17A3	10786	genome.wustl.edu	37	6	25845729	25845729	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:25845729A>C	ENST00000360657.3	-	11	1429	c.1144T>G	c.(1144-1146)Tgg>Ggg	p.W382G	SLC17A3_ENST00000361703.6_Missense_Mutation_p.W382G|SLC17A3_ENST00000397060.4_Missense_Mutation_p.W460G			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	382					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ACATTCCTCCACCCAAACTCA	0.398																																						dbGAP											0													134.0	123.0	127.0					6																	25845729		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1144T>G	6.37:g.25845729A>C	ENSP00000353873:p.Trp382Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.W460G	ENST00000360657.3	37	c.1378	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077055	0.55753	.	.	ENSG00000124564	ENST00000505420;ENST00000397060;ENST00000360657;ENST00000361703	T;T;T;T	0.72505	-0.66;0.2;0.2;0.2	4.87	4.87	0.63330	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.45867	D	0.000324	D	0.83820	0.5337	M	0.92833	3.35	0.48975	D	0.999737	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.87483	0.2422	10	0.87932	D	0	.	11.1676	0.48552	1.0:0.0:0.0:0.0	.	460;382	B7Z511;O00476	.;NPT4_HUMAN	G	13;460;382;382	ENSP00000424027:W13G;ENSP00000380250:W460G;ENSP00000353873:W382G;ENSP00000355307:W382G	ENSP00000353873:W382G	W	-	1	0	SLC17A3	25953708	0.998000	0.40836	0.852000	0.33557	0.761000	0.43186	5.192000	0.65115	1.939000	0.56221	0.533000	0.62120	TGG	SLC17A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000124564		0.398	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2	328	0.00	0	A			25845729	25845729	-1	no_errors	ENST00000397060	ensembl	human	known	69_37n	missense	209	12.08	29	SNP	0.975	C
SLC18A1	6570	genome.wustl.edu	37	8	20036882	20036882	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:20036882T>G	ENST00000276373.5	-	3	504	c.238A>C	c.(238-240)Acc>Ccc	p.T80P	SLC18A1_ENST00000381608.4_Missense_Mutation_p.T80P|SLC18A1_ENST00000265808.7_Missense_Mutation_p.T80P|SLC18A1_ENST00000440926.1_Missense_Mutation_p.T80P|SLC18A1_ENST00000437980.1_Missense_Mutation_p.T80P|SLC18A1_ENST00000519026.1_Missense_Mutation_p.T80P	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	80					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GAGAAGATGGTGGAAAAGGCA	0.517																																						dbGAP											0													111.0	79.0	90.0					8																	20036882		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.238A>C	8.37:g.20036882T>G	ENSP00000276373:p.Thr80Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.T80P	ENST00000276373.5	37	c.238	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	T	3.641	-0.073594	0.07184	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04551	3.89;3.9;3.9;3.89;3.89;3.89;3.6	5.29	-1.89	0.07689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.384928	0.29355	N	0.012390	T	0.02156	0.0067	N	0.12746	0.255	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.12837	0.008;0.003;0.006	T	0.45145	-0.9281	10	0.20519	T	0.43	-6.8983	5.3913	0.16245	0.1338:0.3219:0.0:0.5443	.	80;80;80	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	P	80	ENSP00000265808:T80P;ENSP00000276373:T80P;ENSP00000387549:T80P;ENSP00000413361:T80P;ENSP00000429664:T80P;ENSP00000371021:T80P;ENSP00000428999:T80P	ENSP00000265808:T80P	T	-	1	0	SLC18A1	20081162	0.919000	0.31177	0.118000	0.21660	0.045000	0.14185	0.683000	0.25349	-0.099000	0.12263	0.459000	0.35465	ACC	SLC18A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.517	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	145	0.00	0	T			20036882	20036882	-1	no_errors	ENST00000276373	ensembl	human	known	69_37n	missense	122	13.48	19	SNP	0.112	G
SLC18B1	116843	genome.wustl.edu	37	6	133118222	133118222	+	Missense_Mutation	SNP	A	A	C	rs576257415		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:133118222A>C	ENST00000275227.4	-	2	178	c.82T>G	c.(82-84)Tgg>Ggg	p.W28G	SLC18B1_ENST00000538764.1_5'UTR|SLC18B1_ENST00000367918.1_Missense_Mutation_p.W28G|SLC18B1_ENST00000460518.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	28					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											CTCGAAAGCCACCCGGGGGTC	0.438																																						dbGAP											0													95.0	95.0	95.0					6																	133118222		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.82T>G	6.37:g.133118222A>C	ENSP00000275227:p.Trp28Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.W28G	ENST00000275227.4	37	c.82	CCDS5163.1	6	.	.	.	.	.	.	.	.	.	.	A	3.456	-0.110923	0.06924	.	.	ENSG00000146409	ENST00000367919;ENST00000275227;ENST00000367918	T;T	0.58506	0.33;0.33	5.28	2.44	0.29823	Major facilitator superfamily domain, general substrate transporter (1);	0.334027	0.29342	N	0.012440	T	0.11367	0.0277	N	0.04508	-0.205	0.20975	N	0.999819	B	0.02656	0.0	B	0.04013	0.001	T	0.36648	-0.9739	10	0.15952	T	0.53	-0.0099	8.4609	0.32927	0.2521:0.0:0.7479:0.0	.	28	Q6NT16	CF192_HUMAN	G	28	ENSP00000275227:W28G;ENSP00000356895:W28G	ENSP00000275227:W28G	W	-	1	0	C6orf192	133159915	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	-0.782000	0.04643	0.240000	0.21263	-0.182000	0.12963	TGG	SLC18B1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000146409		0.438	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	148	0.00	0	A	NM_052831		133118222	133118222	-1	no_errors	ENST00000275227	ensembl	human	known	69_37n	missense	100	18.55	23	SNP	0.076	C
SLC1A1	6505	genome.wustl.edu	37	9	4583144	4583144	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:4583144A>C	ENST00000262352.3	+	11	1536	c.1300A>C	c.(1300-1302)Acc>Ccc	p.T434P		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	434					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CGAGGATGTCACCCTGATCAT	0.632																																						dbGAP											0													146.0	125.0	132.0					9																	4583144		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1300A>C	9.37:g.4583144A>C	ENSP00000262352:p.Thr434Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.T434P	ENST00000262352.3	37	c.1300	CCDS6452.1	9	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481317	0.84747	.	.	ENSG00000106688	ENST00000262352	T	0.58940	0.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	L	0.54908	1.71	0.80722	D	1	P	0.51933	0.949	P	0.59948	0.866	T	0.72760	-0.4196	10	0.87932	D	0	-18.927	15.8844	0.79232	1.0:0.0:0.0:0.0	.	434	P43005	EAA3_HUMAN	P	434	ENSP00000262352:T434P	ENSP00000262352:T434P	T	+	1	0	SLC1A1	4573144	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.010000	0.70753	2.218000	0.71995	0.533000	0.62120	ACC	SLC1A1	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	ENSG00000106688		0.632	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	HGNC	protein_coding	OTTHUMT00000051571.1	151	0.66	1	A			4583144	4583144	+1	no_errors	ENST00000262352	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	1.000	C
SLC20A1	6574	genome.wustl.edu	37	2	113417046	113417046	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:113417046T>G	ENST00000272542.3	+	8	1853	c.1314T>G	c.(1312-1314)ggT>ggG	p.G438G		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	438					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CCAAAGAAGGTGAACAGAAGG	0.468																																						dbGAP											0													110.0	100.0	103.0					2																	113417046		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1314T>G	2.37:g.113417046T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08344|Q6DHX8|Q9UQ82	Silent	SNP	pfam_Phos_transporter	p.G438	ENST00000272542.3	37	c.1314	CCDS2099.1	2																																																																																			SLC20A1	-	pfam_Phos_transporter	ENSG00000144136		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	HGNC	protein_coding	OTTHUMT00000254086.2	188	0.00	0	T	NM_005415		113417046	113417046	+1	no_errors	ENST00000272542	ensembl	human	known	69_37n	silent	158	15.05	28	SNP	0.278	G
SLC22A16	85413	genome.wustl.edu	37	6	110768179	110768179	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:110768179A>C	ENST00000368919.3	-	3	614	c.548T>G	c.(547-549)gTg>gGg	p.V183G	SLC22A16_ENST00000439654.1_Missense_Mutation_p.V183G|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V149G|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	183					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CCACAAGACCACCCGGCGTCC	0.443																																						dbGAP											0													66.0	61.0	63.0					6																	110768179		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.548T>G	6.37:g.110768179A>C	ENSP00000357915:p.Val183Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V183G	ENST00000368919.3	37	c.548	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	A	2.039	-0.420593	0.04734	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.14	1.42	0.22433	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.994690	0.08163	N	0.988102	T	0.16557	0.0398	N	0.25245	0.725	0.09310	N	1	B;B	0.33777	0.425;0.372	B;B	0.30855	0.121;0.074	T	0.17899	-1.0354	10	0.24483	T	0.36	.	4.2987	0.10915	0.6151:0.0:0.2451:0.1398	.	183;149	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	G	183;100;149;183;13;140;140	ENSP00000357915:V183G;ENSP00000395642:V100G;ENSP00000328583:V149G;ENSP00000408799:V183G;ENSP00000409306:V13G;ENSP00000416310:V140G;ENSP00000401007:V140G	ENSP00000328583:V149G	V	-	2	0	SLC22A16	110874872	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.298000	0.19120	0.017000	0.15025	0.459000	0.35465	GTG	SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.443	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	158	0.62	1	A	NM_033125		110768179	110768179	-1	no_errors	ENST00000368919	ensembl	human	known	69_37n	missense	127	15.33	23	SNP	0.000	C
SLC22A25	387601	genome.wustl.edu	37	11	62951267	62951267	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62951267A>C	ENST00000306494.6	-	5	852	c.853T>G	c.(853-855)Tgg>Ggg	p.W285G	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.W119G|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ATAATGAGCCACCGAGCAGAC	0.448																																						dbGAP											0													177.0	168.0	171.0					11																	62951267		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.853T>G	11.37:g.62951267A>C	ENSP00000307443:p.Trp285Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.W285G	ENST00000306494.6	37	c.853	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922410	0.52653	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.78126	0.3;-1.15	2.56	1.36	0.22044	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	M	0.93507	3.425	0.26523	N	0.974392	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.78314	-0.2252	10	0.87932	D	0	.	4.8641	0.13600	0.727:0.0:0.0:0.273	.	283;285	A4IF29;Q6T423	.;S22AP_HUMAN	G	285;119	ENSP00000307443:W285G;ENSP00000384208:W119G	ENSP00000307443:W285G	W	-	1	0	SLC22A25	62707843	0.978000	0.34361	0.945000	0.38365	0.611000	0.37282	1.751000	0.38339	0.227000	0.20999	0.102000	0.15555	TGG	SLC22A25	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000196600		0.448	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	HGNC	protein_coding	OTTHUMT00000383519.3	258	0.00	0	A	NM_199352		62951267	62951267	-1	no_errors	ENST00000306494	ensembl	human	known	69_37n	missense	170	16.18	33	SNP	0.994	C
SLC22A4	6583	genome.wustl.edu	37	5	131647885	131647885	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:131647885T>G	ENST00000200652.3	+	2	599	c.425T>G	c.(424-426)gTg>gGg	p.V142G	SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	142					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AACTGGAAGGTGCCCCTCACC	0.607																																						dbGAP											0													239.0	194.0	209.0					5																	131647885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.425T>G	5.37:g.131647885T>G	ENSP00000200652:p.Val142Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14546	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.V142G	ENST00000200652.3	37	c.425	CCDS4153.1	5	.	.	.	.	.	.	.	.	.	.	T	4.145	0.025285	0.08054	.	.	ENSG00000197208	ENST00000200652	T	0.74737	-0.87	5.71	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.265670	0.04944	N	0.459132	T	0.57829	0.2080	N	0.16098	0.37	0.09310	N	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.42241	-0.9463	10	0.22706	T	0.39	.	6.0114	0.19578	0.0:0.5308:0.1251:0.3441	.	142	Q9H015	S22A4_HUMAN	G	142	ENSP00000200652:V142G	ENSP00000200652:V142G	V	+	2	0	SLC22A4	131675784	0.000000	0.05858	0.726000	0.30738	0.041000	0.13682	-0.225000	0.09151	0.345000	0.23873	-0.912000	0.02778	GTG	SLC22A4	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197208		0.607	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	90	0.00	0	T	NM_003059		131647885	131647885	+1	no_errors	ENST00000200652	ensembl	human	known	69_37n	missense	75	20.00	19	SNP	0.000	G
SLC22A6	9356	genome.wustl.edu	37	11	62749365	62749365	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62749365T>G	ENST00000377871.3	-	4	1012	c.746A>C	c.(745-747)cAc>cCc	p.H249P	SLC22A6_ENST00000360421.4_Missense_Mutation_p.H249P|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.H249P|SLC22A6_ENST00000458333.2_Missense_Mutation_p.H249P	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	249					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TAGCTGCAGGTGGCGCCAGTG	0.612																																						dbGAP											0													64.0	56.0	59.0					11																	62749365		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.746A>C	11.37:g.62749365T>G	ENSP00000367102:p.His249Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.H249P	ENST00000377871.3	37	c.746	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769260	0.69992	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.21	2.87	0.33458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261736	0.42964	D	0.000639	T	0.47544	0.1451	L	0.39514	1.22	0.36306	D	0.857361	P;P;P;P	0.47604	0.898;0.496;0.6;0.496	P;B;P;B	0.45660	0.477;0.357;0.489;0.357	T	0.54754	-0.8246	10	0.51188	T	0.08	.	5.4752	0.16692	0.0:0.2248:0.0:0.7752	.	249;249;249;249	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	P	249;228;249;249;249	ENSP00000353597:H249P;ENSP00000367102:H249P;ENSP00000396401:H249P;ENSP00000404441:H249P	ENSP00000353597:H249P	H	-	2	0	SLC22A6	62505941	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	0.892000	0.28322	1.007000	0.39238	0.402000	0.26972	CAC	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197901		0.612	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	32	0.00	0	T	NM_004790		62749365	62749365	-1	no_errors	ENST00000377871	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	G
SLC22A9	114571	genome.wustl.edu	37	11	63137916	63137916	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:63137916A>C	ENST00000279178.3	+	1	637	c.388A>C	c.(388-390)Acc>Ccc	p.T130P	SLC22A9_ENST00000310969.4_Missense_Mutation_p.T130P	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	130					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTTCTCATCCACCATCGTGAC	0.498																																						dbGAP											0													106.0	90.0	95.0					11																	63137916		2201	4298	6499	-	-	-	SO:0001583	missense	0			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.388A>C	11.37:g.63137916A>C	ENSP00000279178:p.Thr130Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T130P	ENST00000279178.3	37	c.388	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154562	0.57259	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	D;D	0.82255	-1.59;-1.59	3.48	2.22	0.28083	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169068	0.50627	D	0.000113	D	0.92185	0.7522	H	0.96015	3.755	0.32702	N	0.512713	D	0.89917	1.0	D	0.91635	0.999	D	0.91654	0.5337	10	0.87932	D	0	.	7.3319	0.26588	0.8037:0.0:0.0:0.1963	.	130	Q8IVM8	S22A9_HUMAN	P	130	ENSP00000311527:T130P;ENSP00000279178:T130P	ENSP00000279178:T130P	T	+	1	0	SLC22A9	62894492	0.966000	0.33281	0.687000	0.30102	0.035000	0.12851	3.755000	0.55197	1.646000	0.50622	0.113000	0.15668	ACC	SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000149742		0.498	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	182	0.54	1	A	NM_080866		63137916	63137916	+1	no_errors	ENST00000279178	ensembl	human	known	69_37n	missense	155	10.92	19	SNP	0.979	C
SLC24A2	25769	genome.wustl.edu	37	9	19619603	19619603	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:19619603T>G	ENST00000341998.2	-	3	1118	c.1057A>C	c.(1057-1059)Acc>Ccc	p.T353P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.T353P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	353					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGGTCAAGGGTGTGTATCATG	0.502																																						dbGAP											0													233.0	209.0	217.0					9																	19619603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1057A>C	9.37:g.19619603T>G	ENSP00000344801:p.Thr353Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.T353P	ENST00000341998.2	37	c.1057	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800167	0.90538	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.79554	-1.28;-1.13	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.80183	2.485	0.80722	D	1	P;D	0.76494	0.84;0.999	P;D	0.72982	0.614;0.979	D	0.90175	0.4238	9	.	.	.	.	15.8169	0.78608	0.0:0.0:0.0:1.0	.	353;353	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	P	353	ENSP00000344801:T353P;ENSP00000286344:T353P	.	T	-	1	0	SLC24A2	19609603	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.780000	0.85658	2.212000	0.71576	0.528000	0.53228	ACC	SLC24A2	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000155886		0.502	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	232	0.85	2	T	NM_020344		19619603	19619603	-1	no_errors	ENST00000341998	ensembl	human	known	69_37n	missense	167	13.85	27	SNP	1.000	G
SLC24A2	25769	genome.wustl.edu	37	9	19786333	19786333	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:19786333T>G	ENST00000341998.2	-	1	593	c.532A>C	c.(532-534)Acc>Ccc	p.T178P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.T178P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	178					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCCATGAAGGTGGCTCCAGCC	0.473																																						dbGAP											0													56.0	59.0	58.0					9																	19786333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.532A>C	9.37:g.19786333T>G	ENSP00000344801:p.Thr178Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.T178P	ENST00000341998.2	37	c.532	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083993	0.76642	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.71934	-0.61;-0.61	5.76	5.76	0.90799	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95388	0.8479	9	.	.	.	.	16.0738	0.80955	0.0:0.0:0.0:1.0	.	178;178	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	P	178	ENSP00000344801:T178P;ENSP00000286344:T178P	.	T	-	1	0	SLC24A2	19776333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.192000	0.70111	0.533000	0.62120	ACC	SLC24A2	-	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000155886		0.473	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	96	0.00	0	T	NM_020344		19786333	19786333	-1	no_errors	ENST00000341998	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	1.000	G
SLC25A13	10165	genome.wustl.edu	37	7	95820548	95820548	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:95820548A>C	ENST00000265631.5	-	7	763	c.627T>G	c.(625-627)ggT>ggG	p.G209G	SLC25A13_ENST00000416240.2_Silent_p.G209G|SLC25A13_ENST00000542654.1_Silent_p.G101G			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	209					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGGATGTGGTACCTCCAGCAG	0.333																																						dbGAP											0													81.0	80.0	80.0					7																	95820548		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.627T>G	7.37:g.95820548A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier	p.G209	ENST00000265631.5	37	c.627	CCDS5645.1	7																																																																																			SLC25A13	-	NULL	ENSG00000004864		0.333	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	173	0.57	1	A	NM_014251		95820548	95820548	-1	no_errors	ENST00000416240	ensembl	human	known	69_37n	silent	148	16.38	29	SNP	1.000	C
SLC25A27	9481	genome.wustl.edu	37	6	46630143	46630143	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:46630143T>G	ENST00000371347.5	+	4	666	c.414T>G	c.(412-414)ggT>ggG	p.G138G	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Silent_p.G138G|SLC25A27_ENST00000452689.2_Silent_p.G52G	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	138					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TGATGGCTGGTGTTATTGGCC	0.383																																						dbGAP											0													101.0	97.0	98.0					6																	46630143		1864	4094	5958	-	-	-	SO:0001819	synonymous_variant	0			AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.414T>G	6.37:g.46630143T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F5GWR4|Q5VTS9|Q8N518	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G138	ENST00000371347.5	37	c.414	CCDS43470.1	6																																																																																			SLC25A27	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000153291		0.383	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A27	HGNC	protein_coding	OTTHUMT00000040791.1	157	0.00	0	T	NM_004277		46630143	46630143	+1	no_errors	ENST00000371347	ensembl	human	known	69_37n	silent	119	19.05	28	SNP	1.000	G
SLC25A28	81894	genome.wustl.edu	37	10	101370744	101370744	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:101370744A>C	ENST00000370495.4	-	4	985	c.957T>G	c.(955-957)ggT>ggG	p.G319G	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	319					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CGGTCACCCCACCTACTTGAT	0.498																																						dbGAP											0													116.0	115.0	115.0					10																	101370744		1985	4156	6141	-	-	-	SO:0001819	synonymous_variant	0			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.957T>G	10.37:g.101370744A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G319	ENST00000370495.4	37	c.957	CCDS41559.1	10																																																																																			SLC25A28	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000155287		0.498	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A28	HGNC	protein_coding	OTTHUMT00000049801.1	105	0.94	1	A	NM_031212		101370744	101370744	-1	no_errors	ENST00000370495	ensembl	human	known	69_37n	silent	58	21.33	16	SNP	0.999	C
SLC25A35	399512	genome.wustl.edu	37	17	8194260	8194260	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:8194260A>C	ENST00000577745.1	-	4	1139	c.629T>G	c.(628-630)gTg>gGg	p.V210G	SLC25A35_ENST00000396278.1_Missense_Mutation_p.V210G|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000380067.2_Missense_Mutation_p.V210G|SLC25A35_ENST00000580340.1_Missense_Mutation_p.V210G|SLC25A35_ENST00000579192.1_Missense_Mutation_p.V210G			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	210					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CATGGCAGCCACCAGCGCCAA	0.557																																						dbGAP											0													78.0	70.0	73.0					17																	8194260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.629T>G	17.37:g.8194260A>C	ENSP00000464231:p.Val210Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494X5|Q6RGS3|Q8N7Y5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.V210G	ENST00000577745.1	37	c.629		17	.	.	.	.	.	.	.	.	.	.	a	0.322	-0.961315	0.02249	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	T;T	0.80304	-1.26;-1.36	5.04	-4.66	0.03329	Mitochondrial carrier domain (2);	0.606846	0.17891	N	0.158502	T	0.69993	0.3173	L	0.43701	1.375	0.25768	N	0.984878	B;B	0.22909	0.045;0.077	B;B	0.25759	0.063;0.062	T	0.58487	-0.7628	10	0.48119	T	0.1	0.8705	12.6233	0.56616	0.4897:0.0:0.5103:0.0	.	210;210	Q3KQZ1;Q3KQZ1-4	S2535_HUMAN;.	G	210	ENSP00000369407:V210G;ENSP00000379574:V210G	ENSP00000369407:V210G	V	-	2	0	SLC25A35	8134985	0.001000	0.12720	0.004000	0.12327	0.130000	0.20726	-0.118000	0.10692	-0.721000	0.04929	-1.566000	0.00877	GTG	SLC25A35	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000125434		0.557	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	HGNC	protein_coding	OTTHUMT00000442146.1	112	0.00	0	A	NM_201520		8194260	8194260	-1	no_errors	ENST00000577745	ensembl	human	known	69_37n	missense	63	26.44	23	SNP	0.001	C
SLC25A36	55186	genome.wustl.edu	37	3	140692582	140692582	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:140692582T>G	ENST00000324194.6	+	6	645	c.477T>G	c.(475-477)ggT>ggG	p.G159G	SLC25A36_ENST00000446041.2_Silent_p.G159G|RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000453248.2_Silent_p.G133G			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	159					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGCGAATGGGTGCTTTTGAAT	0.353																																						dbGAP											0													67.0	66.0	67.0					3																	140692582		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.477T>G	3.37:g.140692582T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.G159	ENST00000324194.6	37	c.477	CCDS46927.1	3																																																																																			SLC25A36	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000114120		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	84	0.00	0	T	NM_018155		140692582	140692582	+1	no_errors	ENST00000324194	ensembl	human	known	69_37n	silent	67	22.99	20	SNP	0.920	G
SLC25A5	292	genome.wustl.edu	37	X	118603762	118603762	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:118603762A>C	ENST00000317881.8	+	2	366	c.250A>C	c.(250-252)Acc>Ccc	p.T84P	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	84					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ATACTTCCCCACCCAGGCTCT	0.493																																						dbGAP											0													116.0	112.0	114.0					X																	118603762		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.250A>C	X.37:g.118603762A>C	ENSP00000360671:p.Thr84Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.T84P	ENST00000317881.8	37	c.250	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834695	0.71373	.	.	ENSG00000005022	ENST00000317881	T	0.79141	-1.24	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.046170	0.85682	D	0.000000	D	0.88905	0.6564	H	0.96333	3.805	0.80722	D	1	P	0.49358	0.923	P	0.54238	0.746	D	0.91694	0.5368	10	0.87932	D	0	.	12.1849	0.54231	1.0:0.0:0.0:0.0	.	84	P05141	ADT2_HUMAN	P	84	ENSP00000360671:T84P	ENSP00000360671:T84P	T	+	1	0	SLC25A5	118487790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.770000	0.91746	1.622000	0.50330	0.430000	0.28490	ACC	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	ENSG00000005022		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	250	0.40	1	A	NM_001152		118603762	118603762	+1	no_errors	ENST00000317881	ensembl	human	known	69_37n	missense	157	10.17	18	SNP	1.000	C
SLC27A3	11000	genome.wustl.edu	37	1	153751181	153751181	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:153751181T>G	ENST00000368661.3	+	7	1672	c.1607T>G	c.(1606-1608)gTg>gGg	p.V536G	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.V617G	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	536					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCTGCTGGTGGCCCCGGTA	0.627																																						dbGAP											0													38.0	40.0	39.0					1																	153751181		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1607T>G	1.37:g.153751181T>G	ENSP00000357650:p.Val536Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V536G	ENST00000368661.3	37	c.1607	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.326869|4.326869	0.81690|0.81690	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000271857;ENST00000368661|ENST00000458027	T;T|.	0.47528|.	0.84;0.84|.	5.14|5.14	5.14|5.14	0.70334|0.70334	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73024|0.73024	0.3534|0.3534	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72982|.	0.979|.	T|T	0.77755|0.77755	-0.2469|-0.2469	10|5	0.87932|.	D|.	0|.	-30.7432|-30.7432	12.9728|12.9728	0.58522|0.58522	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	536|.	Q5K4L6|.	S27A3_HUMAN|.	G|G	617;536|241	ENSP00000271857:V617G;ENSP00000357650:V536G|.	ENSP00000271857:V617G|.	V|W	+|+	2|1	0|0	SLC27A3|SLC27A3	152017805|152017805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.895000|5.895000	0.69814|0.69814	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	GTG|TGG	SLC27A3	-	pfam_AMP-dep_Synth/Lig	ENSG00000143554		0.627	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding		40	0.00	0	T	NM_024330		153751181	153751181	+1	no_errors	ENST00000368661	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	1.000	G
SLC27A3	11000	genome.wustl.edu	37	1	153751591	153751591	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:153751591T>G	ENST00000368661.3	+	8	1854	c.1789T>G	c.(1789-1791)Tgg>Ggg	p.W597G	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Splice_Site_p.W678G	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	597					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCTGACAGGTGGAAGGGGGA	0.557																																						dbGAP											0													150.0	157.0	155.0					1																	153751591		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1788-1T>G	1.37:g.153751591T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W597G	ENST00000368661.3	37	c.1789	CCDS1053.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234409	0.79800	.	.	ENSG00000143554	ENST00000271857;ENST00000368661;ENST00000532853;ENST00000524676	T;T;T;T	0.49432	1.0;1.0;0.78;1.0	5.14	5.14	0.70334	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	H	0.98351	4.21	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.85497	0.1189	10	0.87932	D	0	-16.1898	12.9728	0.58522	0.0:0.0:0.0:1.0	.	597	Q5K4L6	S27A3_HUMAN	G	678;597;98;58	ENSP00000271857:W678G;ENSP00000357650:W597G;ENSP00000433959:W98G;ENSP00000434025:W58G	ENSP00000271857:W678G	W	+	1	0	SLC27A3	152018215	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.634000	0.83273	2.155000	0.67459	0.460000	0.39030	TGG	SLC27A3	-	pfam_AMP-dep_Synth/Lig	ENSG00000143554		0.557	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding		148	0.00	0	T	NM_024330	Missense_Mutation	153751591	153751591	+1	no_errors	ENST00000368661	ensembl	human	known	69_37n	missense	226	14.98	40	SNP	1.000	G
SLC2A4	6517	genome.wustl.edu	37	17	7189808	7189808	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7189808A>C	ENST00000317370.8	+	11	1658	c.1390A>C	c.(1390-1392)Acc>Ccc	p.T464P	RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	464					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTTCATCTTCACCTTCTTAAG	0.547																																						dbGAP											0													297.0	293.0	294.0					17																	7189808		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1390A>C	17.37:g.7189808A>C	ENSP00000320935:p.Thr464Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BQ3|Q14CX2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.T464P	ENST00000317370.8	37	c.1390	CCDS11097.1	17	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620954	0.87460	.	.	ENSG00000181856	ENST00000317370	T	0.75704	-0.96	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88481	0.6448	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.90618	0.4557	10	0.62326	D	0.03	.	13.1748	0.59619	1.0:0.0:0.0:0.0	.	464	P14672	GTR4_HUMAN	P	464	ENSP00000320935:T464P	ENSP00000320935:T464P	T	+	1	0	SLC2A4	7130532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.281000	0.76405	0.533000	0.62120	ACC	SLC2A4	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000181856		0.547	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4	HGNC	protein_coding	OTTHUMT00000220031.3	384	0.77	3	A			7189808	7189808	+1	no_errors	ENST00000317370	ensembl	human	known	69_37n	missense	140	12.88	21	SNP	1.000	C
SLC35B2	347734	genome.wustl.edu	37	6	44222399	44222399	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:44222399T>G	ENST00000393812.3	-	0	1486				SLC35B2_ENST00000538577.1_3'UTR|SLC35B2_ENST00000537814.1_3'UTR|SLC35B2_ENST00000393810.1_3'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2						3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGGGGATGGTGGGAGGGTCC	0.547																																						dbGAP											0													57.0	56.0	56.0					6																	44222399		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.*44A>C	6.37:g.44222399T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	RNA	SNP	-	NULL	ENST00000393812.3	37	NULL	CCDS34462.1	6																																																																																			SLC35B2	-	-	ENSG00000157593		0.547	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	120	0.81	1	T			44222399	44222399	-1	no_errors	ENST00000495706	ensembl	human	known	69_37n	rna	55	23.29	17	SNP	0.001	G
SLC35C2	51006	genome.wustl.edu	37	20	44983861	44983861	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:44983861A>C	ENST00000372227.1	-	6	968	c.428T>G	c.(427-429)gTg>gGg	p.V143G	SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000243896.2_Missense_Mutation_p.V143G|SLC35C2_ENST00000543605.1_Missense_Mutation_p.V172G|SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372230.5_Missense_Mutation_p.V143G|SLC35C2_ENST00000372229.1_Missense_Mutation_p.V10G	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	143					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GAGGAGGACCACCAGGACCAG	0.612																																						dbGAP											0													37.0	29.0	32.0					20																	44983861		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.428T>G	20.37:g.44983861A>C	ENSP00000361301:p.Val143Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA	p.V172G	ENST00000372227.1	37	c.515	CCDS13396.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.642568|4.642568	0.87859|0.87859	.|.	.|.	ENSG00000080189|ENSG00000080189	ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605|ENST00000372223;ENST00000424568	D;D;T;D;D|.	0.87103|.	-2.21;-2.21;0.67;-2.21;-2.21|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78528|0.78528	0.4297|0.4297	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.65233|.	0.933;0.927|.	T|T	0.81282|0.81282	-0.1003|-0.1003	10|5	0.72032|.	D|.	0.01|.	-3.6692|-3.6692	14.5578|14.5578	0.68113|0.68113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	172;143|.	F5H4T9;Q9NQQ7|.	.;S35C2_HUMAN|.	G|G	143;143;10;143;11;172|119	ENSP00000243896:V143G;ENSP00000361301:V143G;ENSP00000361303:V10G;ENSP00000361304:V143G;ENSP00000439974:V172G|.	ENSP00000243896:V143G|.	V|W	-|-	2|1	0|0	SLC35C2|SLC35C2	44417268|44417268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.999000|8.999000	0.93557|0.93557	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	GTG|TGG	SLC35C2	-	pfam_UAA	ENSG00000080189		0.612	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35C2	HGNC	protein_coding	OTTHUMT00000080363.1	51	0.00	0	A	NM_015945		44983861	44983861	-1	no_errors	ENST00000543605	ensembl	human	known	69_37n	missense	40	17.31	9	SNP	1.000	C
SLC35F1	222553	genome.wustl.edu	37	6	118635359	118635359	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:118635359A>C	ENST00000360388.4	+	8	1372	c.1171A>C	c.(1171-1173)Acc>Ccc	p.T391P		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	391					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ACCCTCAGTCACCTACACCAG	0.592																																						dbGAP											0													97.0	82.0	87.0					6																	118635359		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1171A>C	6.37:g.118635359A>C	ENSP00000353557:p.Thr391Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_DMT	p.T391P	ENST00000360388.4	37	c.1171	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340834	0.60963	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.56	5.56	0.83823	.	0.053881	0.64402	D	0.000001	T	0.19805	0.0476	N	0.19112	0.55	0.58432	D	0.999998	P	0.44521	0.837	B	0.31390	0.129	T	0.05533	-1.0879	9	0.30854	T	0.27	.	15.7181	0.77685	1.0:0.0:0.0:0.0	.	391	Q5T1Q4	S35F1_HUMAN	P	391	.	ENSP00000353557:T391P	T	+	1	0	SLC35F1	118742052	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.987000	0.88182	2.122000	0.65172	0.533000	0.62120	ACC	SLC35F1	-	NULL	ENSG00000196376		0.592	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	148	0.67	1	A	XM_167044		118635359	118635359	+1	no_errors	ENST00000360388	ensembl	human	known	69_37n	missense	131	20.36	34	SNP	1.000	C
SLC35F3	148641	genome.wustl.edu	37	1	234454587	234454587	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:234454587A>C	ENST00000366617.3	+	5	1066	c.838A>C	c.(838-840)Acc>Ccc	p.T280P	SLC35F3_ENST00000366618.3_Missense_Mutation_p.T349P			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	280					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCTCTTCATCACCTGCATTCC	0.418																																						dbGAP											0													204.0	194.0	198.0					1																	234454587		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.838A>C	1.37:g.234454587A>C	ENSP00000355576:p.Thr280Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	pfam_DMT,pfam_DUF250,pfam_DUF914_euk	p.T349P	ENST00000366617.3	37	c.1045		1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086687	0.55861	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.66638	-0.22;-0.22	5.71	3.23	0.37069	.	0.175337	0.64402	D	0.000008	T	0.59662	0.2210	N	0.22421	0.69	0.40346	D	0.979085	P;D	0.53151	0.93;0.958	P;P	0.51229	0.462;0.663	T	0.63102	-0.6712	10	0.59425	D	0.04	-26.9147	10.6831	0.45826	0.7452:0.0:0.0:0.2548	.	280;349	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	P	349;280	ENSP00000355577:T349P;ENSP00000355576:T280P	ENSP00000355576:T280P	T	+	1	0	SLC35F3	232521210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.131000	0.57970	0.957000	0.37930	0.533000	0.62120	ACC	SLC35F3	-	pfam_DUF914_euk	ENSG00000183780		0.418	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	175	0.00	0	A	NM_173508		234454587	234454587	+1	no_errors	ENST00000366618	ensembl	human	known	69_37n	missense	345	10.80	42	SNP	1.000	C
SLC36A1	206358	genome.wustl.edu	37	5	150856195	150856195	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150856195A>C	ENST00000243389.3	+	9	1090	c.867A>C	c.(865-867)ccA>ccC	p.P289P	SLC36A1_ENST00000520701.1_Silent_p.P289P|SLC36A1_ENST00000521925.1_Silent_p.P289P|RNA5SP197_ENST00000363357.1_RNA	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	289					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GGAAGTTCCCACTCATCCTGT	0.478																																					Melanoma(151;1534 1860 12947 32979 37872)	dbGAP											0													150.0	129.0	136.0					5																	150856195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.867A>C	5.37:g.150856195A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.T16P	ENST00000243389.3	37	c.46	CCDS4316.1	5																																																																																			SLC36A1	-	pfam_AA_transpt_TM	ENSG00000123643		0.478	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	HGNC	protein_coding	OTTHUMT00000252433.1	192	0.52	1	A	NM_078483		150856195	150856195	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000522185	ensembl	human	known	69_37n	missense	171	11.40	22	SNP	0.001	C
SLC36A1	206358	genome.wustl.edu	37	5	150867632	150867632	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150867632A>C	ENST00000243389.3	+	11	1471	c.1248A>C	c.(1246-1248)ccA>ccC	p.P416P	SLC36A1_ENST00000520701.1_Silent_p.P416P	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	416					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TCATCATCCCACCGCTCCTGG	0.632																																					Melanoma(151;1534 1860 12947 32979 37872)	dbGAP											0													86.0	73.0	77.0					5																	150867632		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1248A>C	5.37:g.150867632A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	pfam_AA_transpt_TM	p.P416	ENST00000243389.3	37	c.1248	CCDS4316.1	5																																																																																			SLC36A1	-	pfam_AA_transpt_TM	ENSG00000123643		0.632	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	HGNC	protein_coding	OTTHUMT00000252433.1	106	0.00	0	A	NM_078483		150867632	150867632	+1	no_errors	ENST00000243389	ensembl	human	known	69_37n	silent	62	18.42	14	SNP	0.232	C
SLC36A3	285641	genome.wustl.edu	37	5	150656999	150656999	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150656999T>G	ENST00000335230.3	-	10	1779	c.1368A>C	c.(1366-1368)caA>caC	p.Q456H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.Q497H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	456						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGATGGGTTGGGGCAACT	0.473																																						dbGAP											0													136.0	130.0	132.0					5																	150656999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1368A>C	5.37:g.150656999T>G	ENSP00000334750:p.Gln456His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.Q497H	ENST00000335230.3	37	c.1491	CCDS4314.1	5	.	.	.	.	.	.	.	.	.	.	T	9.316	1.056760	0.19907	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.04706	3.57;3.78	4.69	-2.44	0.06502	.	0.703684	0.13907	N	0.354537	T	0.05593	0.0147	M	0.65975	2.015	0.09310	N	1	B;B;B	0.16166	0.01;0.003;0.016	B;B;B	0.17433	0.018;0.005;0.018	T	0.31420	-0.9944	10	0.42905	T	0.14	-9.4162	5.8135	0.18479	0.0:0.3654:0.2669:0.3677	.	497;456;441	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	H	456;497	ENSP00000334750:Q456H;ENSP00000366942:Q497H	ENSP00000334750:Q456H	Q	-	3	2	SLC36A3	150637192	0.175000	0.23083	0.127000	0.21898	0.018000	0.09664	0.049000	0.14099	-0.170000	0.10816	-0.408000	0.06270	CAA	SLC36A3	-	NULL	ENSG00000186334		0.473	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	233	0.85	2	T	NM_181774		150656999	150656999	-1	no_errors	ENST00000377713	ensembl	human	known	69_37n	missense	244	14.69	42	SNP	0.001	G
SLC36A1	206358	genome.wustl.edu	37	5	150867651	150867651	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150867651A>C	ENST00000243389.3	+	11	1490	c.1267A>C	c.(1267-1269)Acc>Ccc	p.T423P	SLC36A1_ENST00000520701.1_Missense_Mutation_p.T423P	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	423					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GGAGGTCACCACCTTCTACTC	0.632																																					Melanoma(151;1534 1860 12947 32979 37872)	dbGAP											0													90.0	78.0	82.0					5																	150867651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1267A>C	5.37:g.150867651A>C	ENSP00000243389:p.Thr423Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.T423P	ENST00000243389.3	37	c.1267	CCDS4316.1	5	.	.	.	.	.	.	.	.	.	.	A	24.3	4.510973	0.85389	.	.	ENSG00000123643	ENST00000520701;ENST00000243389	T;T	0.02472	4.28;4.28	5.53	5.53	0.82687	.	0.052567	0.85682	D	0.000000	T	0.22704	0.0548	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.11641	-1.0579	10	0.87932	D	0	.	15.6591	0.77169	1.0:0.0:0.0:0.0	.	423	Q7Z2H8	S36A1_HUMAN	P	423	ENSP00000428140:T423P;ENSP00000243389:T423P	ENSP00000243389:T423P	T	+	1	0	SLC36A1	150847844	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.040000	0.70980	2.097000	0.63578	0.374000	0.22700	ACC	SLC36A1	-	pfam_AA_transpt_TM	ENSG00000123643		0.632	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	HGNC	protein_coding	OTTHUMT00000252433.1	101	0.00	0	A	NM_078483		150867651	150867651	+1	no_errors	ENST00000243389	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	C
SLC38A1	81539	genome.wustl.edu	37	12	46596829	46596829	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:46596829T>G	ENST00000398637.5	-	12	1560	c.866A>C	c.(865-867)cAc>cCc	p.H289P	SLC38A1_ENST00000552197.1_Missense_Mutation_p.H289P|SLC38A1_ENST00000546893.1_Missense_Mutation_p.H289P|SLC38A1_ENST00000439706.1_Missense_Mutation_p.H289P|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.H289P	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	289					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GACTGACGGGTGGCAAACAAA	0.343																																						dbGAP											0													82.0	79.0	80.0					12																	46596829		1852	4094	5946	-	-	-	SO:0001583	missense	0			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.866A>C	12.37:g.46596829T>G	ENSP00000381634:p.His289Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.H289P	ENST00000398637.5	37	c.866	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810789	0.90707	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.03004	4.08;4.08;4.08;4.08;4.08	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000001	T	0.23410	0.0566	M	0.88570	2.965	0.80722	D	1	D;D;D	0.61080	0.989;0.985;0.967	D;P;P	0.70716	0.97;0.877;0.884	T	0.01440	-1.1354	10	0.87932	D	0	-19.3118	16.5494	0.84464	0.0:0.0:0.0:1.0	.	289;289;289	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	P	289	ENSP00000449607:H289P;ENSP00000398142:H289P;ENSP00000381634:H289P;ENSP00000447853:H289P;ENSP00000449756:H289P	ENSP00000381634:H289P	H	-	2	0	SLC38A1	44883096	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.000000	0.88501	2.299000	0.77371	0.528000	0.53228	CAC	SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.343	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	184	0.54	1	T			46596829	46596829	-1	no_errors	ENST00000398637	ensembl	human	known	69_37n	missense	109	24.31	35	SNP	1.000	G
SLC38A1	81539	genome.wustl.edu	37	12	46599916	46599916	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:46599916A>C	ENST00000398637.5	-	9	1287	c.593T>G	c.(592-594)gTg>gGg	p.V198G	SLC38A1_ENST00000552197.1_Missense_Mutation_p.V198G|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V198G|SLC38A1_ENST00000439706.1_Missense_Mutation_p.V198G|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.V198G	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	198					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AACTATCACCACCAGAACGCG	0.393																																						dbGAP											0													87.0	91.0	90.0					12																	46599916		1921	4142	6063	-	-	-	SO:0001583	missense	0			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.593T>G	12.37:g.46599916A>C	ENSP00000381634:p.Val198Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.V198G	ENST00000398637.5	37	c.593	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129571	0.56721	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	5.7	5.7	0.88788	.	0.105638	0.41500	D	0.000874	T	0.11879	0.0289	M	0.78049	2.395	0.80722	D	1	P;P;B	0.44195	0.828;0.552;0.374	P;B;B	0.52066	0.689;0.345;0.392	T	0.00075	-1.2122	10	0.87932	D	0	-8.9652	15.9558	0.79886	1.0:0.0:0.0:0.0	.	198;198;198	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	G	198	ENSP00000449607:V198G;ENSP00000398142:V198G;ENSP00000381634:V198G;ENSP00000447853:V198G;ENSP00000449756:V198G	ENSP00000381634:V198G	V	-	2	0	SLC38A1	44886183	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.182000	0.89698	2.170000	0.68504	0.383000	0.25322	GTG	SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.393	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	142	0.00	0	A			46599916	46599916	-1	no_errors	ENST00000398637	ensembl	human	known	69_37n	missense	89	16.04	17	SNP	1.000	C
SLC38A7	55238	genome.wustl.edu	37	16	58712654	58712654	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:58712654T>G	ENST00000570101.1	-	3	1298	c.415A>C	c.(415-417)Acc>Ccc	p.T139P	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.T50P|SLC38A7_ENST00000219320.4_Missense_Mutation_p.T139P|SLC38A7_ENST00000564100.1_Missense_Mutation_p.T139P			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	139					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTGCCAAAGGTGTAGACAGCG	0.562																																						dbGAP											0													186.0	113.0	138.0					16																	58712654		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.415A>C	16.37:g.58712654T>G	ENSP00000454646:p.Thr139Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.T139P	ENST00000570101.1	37	c.415	CCDS10800.1	16	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571774	0.86542	.	.	ENSG00000103042	ENST00000219320	T	0.02280	4.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.974	T	0.04216	-1.0968	9	.	.	.	.	15.3314	0.74215	0.0:0.0:0.0:1.0	.	139;139	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	P	139	ENSP00000219320:T139P	.	T	-	1	0	SLC38A7	57270155	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.645000	0.83430	2.224000	0.72417	0.533000	0.62120	ACC	SLC38A7	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000103042		0.562	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	21	0.00	0	T	NM_018231		58712654	58712654	-1	no_errors	ENST00000219320	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	G
SLC40A1	30061	genome.wustl.edu	37	2	190439955	190439955	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:190439955A>C	ENST00000261024.2	-	3	629	c.203T>G	c.(202-204)gTg>gGg	p.V68G	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	68					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGACCCTGCCACCACCAGCCC	0.483																																						dbGAP											0													168.0	167.0	167.0					2																	190439955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.203T>G	2.37:g.190439955A>C	ENSP00000261024:p.Val68Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.V68G	ENST00000261024.2	37	c.203	CCDS2299.1	2	.	.	.	.	.	.	.	.	.	.	A	28.7	4.944996	0.92593	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.80994	-1.35;-1.44	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.85354	0.1103	10	0.23891	T	0.37	-28.0573	15.5451	0.76093	1.0:0.0:0.0:0.0	.	68;68	A8K7Y1;Q9NP59	.;S40A1_HUMAN	G	68	ENSP00000261024:V68G;ENSP00000390005:V68G	ENSP00000261024:V68G	V	-	2	0	SLC40A1	190148200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.266000	0.75297	0.528000	0.53228	GTG	SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	ENSG00000138449		0.483	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	288	0.68	2	A			190439955	190439955	-1	no_errors	ENST00000261024	ensembl	human	known	69_37n	missense	183	19.38	44	SNP	1.000	C
SLC40A1	30061	genome.wustl.edu	37	2	190439958	190439958	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:190439958A>C	ENST00000261024.2	-	3	626	c.200T>G	c.(199-201)gTg>gGg	p.V67G	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	67					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCCTGCCACCACCAGCCCGTA	0.483																																						dbGAP											0													165.0	164.0	164.0					2																	190439958		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.200T>G	2.37:g.190439958A>C	ENSP00000261024:p.Val67Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.V67G	ENST00000261024.2	37	c.200	CCDS2299.1	2	.	.	.	.	.	.	.	.	.	.	A	29.0	4.971614	0.92919	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	D;D	0.95788	-3.81;-3.81	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.062842	0.64402	D	0.000005	D	0.97151	0.9069	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.978;0.998	D	0.97334	0.9952	10	0.52906	T	0.07	-20.0402	15.5451	0.76093	1.0:0.0:0.0:0.0	.	67;67	A8K7Y1;Q9NP59	.;S40A1_HUMAN	G	67	ENSP00000261024:V67G;ENSP00000390005:V67G	ENSP00000261024:V67G	V	-	2	0	SLC40A1	190148203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.266000	0.75297	0.528000	0.53228	GTG	SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	ENSG00000138449		0.483	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	293	0.34	1	A			190439958	190439958	-1	no_errors	ENST00000261024	ensembl	human	known	69_37n	missense	189	16.59	38	SNP	1.000	C
SLC39A10	57181	genome.wustl.edu	37	2	196578278	196578278	+	Splice_Site	SNP	G	G	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:196578278G>T	ENST00000409086.3	+	6	1971		c.e6+1		SLC39A10_ENST00000541054.1_Splice_Site|SLC39A10_ENST00000359634.5_Splice_Site	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10						transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CCTCTTGCCGGTAGACAGCAA	0.308																																						dbGAP											1	Unknown(1)	endometrium(1)											67.0	65.0	66.0					2																	196578278		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1696+1G>T	2.37:g.196578278G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Splice_Site	SNP	-	e5+1	ENST00000409086.3	37	c.1696+1	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078154	0.76528	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9278	0.97110	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC39A10	196286523	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.766000	0.62279	2.770000	0.95276	0.650000	0.86243	.	SLC39A10	-	-	ENSG00000196950		0.308	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	127	0.00	0	G	XM_047707	Intron	196578278	196578278	+1	no_errors	ENST00000359634	ensembl	human	known	69_37n	splice_site	70	19.54	17	SNP	1.000	T
SLC41A1	254428	genome.wustl.edu	37	1	205760583	205760583	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:205760583T>G	ENST00000367137.3	-	0	2634				SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGTGTGGGGTGGAGGAGGGA	0.423											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.*78A>C	1.37:g.205760583T>G		Somatic	2154	WXS	Illumina GAIIx	Phase_IV	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	RNA	SNP	-	NULL	ENST00000367137.3	37	NULL	CCDS30988.1	1																																																																																			SLC41A1	-	-	ENSG00000133065		0.423	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	31	0.00	0	T			205760583	205760583	-1	no_errors	ENST00000468057	ensembl	human	known	69_37n	rna	33	42.11	24	SNP	0.000	G
SLC4A7	9497	genome.wustl.edu	37	3	27463212	27463212	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:27463212A>C	ENST00000295736.5	-	9	1368	c.1298T>G	c.(1297-1299)gTg>gGg	p.V433G	SLC4A7_ENST00000455077.1_Missense_Mutation_p.V314G|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V314G|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V442G|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V318G|SLC4A7_ENST00000425128.2_Missense_Mutation_p.V425G|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V309G|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V429G|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V425G|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V429G	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	433					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TACTTCGCCCACCAGGACGTT	0.428																																						dbGAP											0													98.0	97.0	98.0					3																	27463212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1298T>G	3.37:g.27463212A>C	ENSP00000295736:p.Val433Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.V442G	ENST00000295736.5	37	c.1325	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455728	0.63401	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.54	5.54	0.83059	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.123918	0.53938	D	0.000050	D	0.91341	0.7269	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.991;0.996;0.999;0.998;0.989;0.998;0.997	D;D;D;D;D;D;D;D	0.81914	0.99;0.938;0.983;0.995;0.99;0.923;0.99;0.954	D	0.93110	0.6516	10	0.87932	D	0	.	15.6902	0.77446	1.0:0.0:0.0:0.0	.	429;314;425;429;442;309;433;314	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;S4A7_HUMAN;.	G	433;309;442;429;314;425;314;429;318;425;329	ENSP00000295736:V433G;ENSP00000416368:V309G;ENSP00000390394:V442G;ENSP00000414797:V429G;ENSP00000394252:V314G;ENSP00000406605:V425G;ENSP00000407382:V314G;ENSP00000406804:V429G;ENSP00000395336:V318G;ENSP00000401949:V425G;ENSP00000388703:V329G	ENSP00000295736:V433G	V	-	2	0	SLC4A7	27438216	1.000000	0.71417	0.995000	0.50966	0.154000	0.21943	9.240000	0.95396	2.115000	0.64714	0.528000	0.53228	GTG	SLC4A7	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.428	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	177	0.00	0	A	NM_003615		27463212	27463212	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	1.000	C
SLC4A8	9498	genome.wustl.edu	37	12	51865301	51865301	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:51865301A>C	ENST00000453097.2	+	14	2106	c.1889A>C	c.(1888-1890)cAc>cCc	p.H630P	SLC4A8_ENST00000358657.3_Missense_Mutation_p.H657P|SLC4A8_ENST00000394856.1_Missense_Mutation_p.H577P|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Missense_Mutation_p.H577P|SLC4A8_ENST00000535225.2_Missense_Mutation_p.H577P	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CAGCTGGACCACCTTAGCCTC	0.418																																						dbGAP											0													97.0	101.0	100.0					12																	51865301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1889A>C	12.37:g.51865301A>C	ENSP00000405812:p.His630Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.H630P	ENST00000453097.2	37	c.1889	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519581	0.27211	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.76578	-0.4;-1.03;-1.02;-0.41;-0.41	5.33	1.62	0.23740	Bicarbonate transporter, C-terminal (1);	0.715291	0.14612	N	0.308923	T	0.63977	0.2557	N	0.14661	0.345	0.34515	D	0.707528	B;B;B;B;B;B	0.25904	0.11;0.134;0.137;0.036;0.071;0.071	B;B;B;B;B;B	0.36808	0.097;0.045;0.15;0.233;0.15;0.045	T	0.62637	-0.6812	10	0.33940	T	0.23	.	8.7065	0.34358	0.7679:0.0:0.2321:0.0	.	577;657;577;630;630;630	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	P	577;657;630;577;630;577;577	ENSP00000441520:H577P;ENSP00000351483:H657P;ENSP00000405812:H630P;ENSP00000378325:H577P;ENSP00000442561:H577P	ENSP00000315789:H630P	H	+	2	0	SLC4A8	50151568	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.551000	0.53698	0.398000	0.25338	0.460000	0.39030	CAC	SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.418	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	240	0.00	0	A	NM_004858		51865301	51865301	+1	no_errors	ENST00000453097	ensembl	human	known	69_37n	missense	188	13.76	30	SNP	1.000	C
SLC5A1	6523	genome.wustl.edu	37	22	32480937	32480937	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:32480937T>G	ENST00000266088.4	+	9	1186	c.936T>G	c.(934-936)ggT>ggG	p.G312G	SLC5A1_ENST00000543737.1_Silent_p.G185G	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	312					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ACGTGAAGGGTGGCTGCATCC	0.512																																						dbGAP											0													162.0	128.0	139.0					22																	32480937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.936T>G	22.37:g.32480937T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G312	ENST00000266088.4	37	c.936	CCDS13902.1	22																																																																																			SLC5A1	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100170		0.512	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	HGNC	protein_coding	OTTHUMT00000075656.3	225	0.00	0	T	NM_000343		32480937	32480937	+1	no_errors	ENST00000266088	ensembl	human	known	69_37n	silent	200	12.88	30	SNP	0.114	G
SLC5A11	115584	genome.wustl.edu	37	16	24920379	24920379	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:24920379A>C	ENST00000347898.3	+	14	2234	c.1612A>C	c.(1612-1614)Acc>Ccc	p.T538P	SLC5A11_ENST00000565769.1_Missense_Mutation_p.T474P|SLC5A11_ENST00000569071.1_Missense_Mutation_p.T382P|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T468P|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T503P|SLC5A11_ENST00000449109.2_Missense_Mutation_p.T382P|SLC5A11_ENST00000568579.1_Missense_Mutation_p.T468P|SLC5A11_ENST00000539472.1_Missense_Mutation_p.T474P|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T503P	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CACTGTCTCCACCGTGAGCTG	0.532																																						dbGAP											0													125.0	96.0	106.0					16																	24920379		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1612A>C	16.37:g.24920379A>C	ENSP00000289932:p.Thr538Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T538P	ENST00000347898.3	37	c.1612	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145929	0.37923	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.81	-2.15	0.07102	.	1.092070	0.06685	N	0.768678	T	0.59715	0.2214	M	0.61703	1.905	0.09310	N	1	P;P;P;P	0.47409	0.832;0.895;0.736;0.641	B;B;B;B	0.41332	0.193;0.354;0.193;0.1	T	0.59375	-0.7466	10	0.72032	D	0.01	.	12.0939	0.53744	0.4255:0.0:0.5745:0.0	.	468;503;538;382	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	P	538;382;503;468;474	ENSP00000289932:T538P;ENSP00000389606:T382P;ENSP00000416782:T503P;ENSP00000441384:T468P;ENSP00000441018:T474P	ENSP00000289932:T538P	T	+	1	0	SLC5A11	24827880	0.000000	0.05858	0.000000	0.03702	0.756000	0.42949	-0.658000	0.05329	-0.672000	0.05266	0.482000	0.46254	ACC	SLC5A11	-	NULL	ENSG00000158865		0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	45	0.00	0	A	NM_052944		24920379	24920379	+1	no_errors	ENST00000347898	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	0.000	C
SLC5A12	159963	genome.wustl.edu	37	11	26743254	26743254	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:26743254A>C	ENST00000396005.3	-	1	317	c.8T>G	c.(7-9)gTg>gGg	p.V3G	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V3G	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	3					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAAGTTCTTCACCTCCATATT	0.408																																						dbGAP											0													83.0	86.0	85.0					11																	26743254		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.8T>G	11.37:g.26743254A>C	ENSP00000379326:p.Val3Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V3G	ENST00000396005.3	37	c.8	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482620	0.26598	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.86432	-2.12;-1.74	5.28	2.95	0.34219	.	0.381119	0.22763	N	0.055929	D	0.83427	0.5252	L	0.38953	1.18	0.54753	D	0.999989	B;B	0.33512	0.036;0.415	B;B	0.40864	0.088;0.342	T	0.76545	-0.2920	10	0.42905	T	0.14	.	11.6727	0.51411	0.8652:0.0:0.1348:0.0	.	3;3	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	G	3	ENSP00000379326:V3G;ENSP00000280467:V3G	ENSP00000280467:V3G	V	-	2	0	SLC5A12	26699830	0.542000	0.26426	0.961000	0.40146	0.334000	0.28698	1.522000	0.35921	0.027000	0.15297	-1.463000	0.01021	GTG	SLC5A12	-	NULL	ENSG00000148942		0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	218	0.91	2	A	NM_178498		26743254	26743254	-1	no_errors	ENST00000396005	ensembl	human	known	69_37n	missense	387	10.39	45	SNP	1.000	C
SLC5A3	6526	genome.wustl.edu	37	21	35467906	35467906	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:35467906A>C	ENST00000381151.3	+	2	921	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.T137P			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	137					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTATATTTTCACCAAGCTCTC	0.458																																						dbGAP											0													172.0	180.0	177.0					21																	35467906		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.409A>C	21.37:g.35467906A>C	ENSP00000370543:p.Thr137Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T137P	ENST00000381151.3	37	c.409	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	A	18.20	3.570772	0.65765	.	.	ENSG00000198743	ENST00000381151	D	0.88896	-2.44	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.96794	0.9584	10	0.72032	D	0.01	.	16.1482	0.81586	1.0:0.0:0.0:0.0	.	137	P53794	SC5A3_HUMAN	P	137	ENSP00000370543:T137P	ENSP00000370543:T137P	T	+	1	0	SLC5A3	34389776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.297000	0.77311	0.496000	0.49642	ACC	SLC5A3	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000198743		0.458	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	267	0.00	0	A			35467906	35467906	+1	no_errors	ENST00000381151	ensembl	human	known	69_37n	missense	170	12.37	24	SNP	1.000	C
SLC5A8	160728	genome.wustl.edu	37	12	101587555	101587555	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:101587555A>C	ENST00000536262.2	-	5	1098	c.540T>G	c.(538-540)ggT>ggG	p.G180G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTAAGACCACCCTTTGAGG	0.378																																					GBM(60;420 1056 13605 22380 47675)	dbGAP											0													143.0	133.0	136.0					12																	101587555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.540T>G	12.37:g.101587555A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G180	ENST00000536262.2	37	c.540	CCDS9080.1	12																																																																																			SLC5A8	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000256870		0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	162	0.61	1	A	NM_145913		101587555	101587555	-1	no_errors	ENST00000536262	ensembl	human	known	69_37n	silent	148	15.43	27	SNP	0.952	C
SLC5A9	200010	genome.wustl.edu	37	1	48703472	48703472	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:48703472A>C	ENST00000438567.2	+	11	1466	c.1414A>C	c.(1414-1416)Acc>Ccc	p.T472P	SLC5A9_ENST00000533824.1_Missense_Mutation_p.T493P|SLC5A9_ENST00000236495.5_Missense_Mutation_p.T497P	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	472					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCCACCCATCACCGCTCTCTT	0.572																																						dbGAP											0													125.0	103.0	110.0					1																	48703472		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1414A>C	1.37:g.48703472A>C	ENSP00000401730:p.Thr472Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T497P	ENST00000438567.2	37	c.1489	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	a	19.02	3.746513	0.69418	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88124	-2.34;-2.34;-2.34	5.04	5.04	0.67666	.	0.095743	0.64402	D	0.000001	D	0.91523	0.7323	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.998	D;D;D	0.75020	0.98;0.974;0.985	D	0.92302	0.5850	10	0.72032	D	0.01	.	14.1033	0.65072	1.0:0.0:0.0:0.0	.	493;472;497	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	P	493;472;497	ENSP00000431900:T493P;ENSP00000401730:T472P;ENSP00000236495:T497P	ENSP00000236495:T497P	T	+	1	0	SLC5A9	48476059	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	1.594000	0.36697	2.119000	0.64992	0.529000	0.55759	ACC	SLC5A9	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000117834		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	166	0.60	1	A	XM_117174		48703472	48703472	+1	no_errors	ENST00000236495	ensembl	human	known	69_37n	missense	119	16.08	23	SNP	1.000	C
SLC6A11	6538	genome.wustl.edu	37	3	10861418	10861418	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:10861418T>G	ENST00000254488.2	+	3	479	c.413T>G	c.(412-414)gTg>gGg	p.V138G	SLC6A11_ENST00000454147.1_Missense_Mutation_p.V138G	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	138					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GCAACACAGGTGATTGAGGCC	0.458																																						dbGAP											0													189.0	170.0	177.0					3																	10861418		2203	4300	6503	-	-	-	SO:0001583	missense	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.413T>G	3.37:g.10861418T>G	ENSP00000254488:p.Val138Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3,pfscan_Na/ntran_symport	p.V138G	ENST00000254488.2	37	c.413	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465194	0.84425	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.78707	-1.2;-1.2	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.89095	3.005	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	D	0.91477	0.5201	10	0.87932	D	0	.	15.4457	0.75228	0.0:0.0:0.0:1.0	.	138	P48066	S6A11_HUMAN	G	138	ENSP00000254488:V138G;ENSP00000404120:V138G	ENSP00000254488:V138G	V	+	2	0	SLC6A11	10836418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.887000	0.87295	2.107000	0.64212	0.533000	0.62120	GTG	SLC6A11	-	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000132164		0.458	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	222	0.00	0	T	NM_014229		10861418	10861418	+1	no_errors	ENST00000254488	ensembl	human	known	69_37n	missense	163	11.83	22	SNP	1.000	G
SLC6A16	28968	genome.wustl.edu	37	19	49797123	49797123	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:49797123T>G	ENST00000335875.4	-	9	1820	c.1579A>C	c.(1579-1581)Acc>Ccc	p.T527P	SLC6A16_ENST00000454748.3_Missense_Mutation_p.T527P	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	527					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AAAGAGAAGGTGTCCTGGAGT	0.502																																						dbGAP											0													199.0	196.0	197.0					19																	49797123		1995	4186	6181	-	-	-	SO:0001583	missense	0			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1579A>C	19.37:g.49797123T>G	ENSP00000338627:p.Thr527Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.T527P	ENST00000335875.4	37	c.1579	CCDS42590.1	19	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863798	0.32884	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75154	-0.91;-0.91	4.44	-1.75	0.08031	.	0.403169	0.26927	N	0.021784	T	0.64832	0.2634	M	0.71206	2.165	0.19575	N	0.999962	B;B	0.21147	0.052;0.052	B;B	0.28232	0.087;0.055	T	0.57711	-0.7764	10	0.59425	D	0.04	.	0.5536	0.00667	0.2654:0.1639:0.1367:0.4339	.	527;527	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	P	527	ENSP00000338627:T527P;ENSP00000404022:T527P	ENSP00000338627:T527P	T	-	1	0	SLC6A16	54488935	0.804000	0.28969	0.089000	0.20774	0.016000	0.09150	0.438000	0.21559	-0.450000	0.07107	0.496000	0.49642	ACC	SLC6A16	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000063127		0.502	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A16	HGNC	protein_coding	OTTHUMT00000465503.2	221	0.00	0	T	NM_014037		49797123	49797123	-1	no_errors	ENST00000335875	ensembl	human	known	69_37n	missense	231	12.50	33	SNP	0.851	G
SLC6A7	6534	genome.wustl.edu	37	5	149580719	149580719	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:149580719T>C	ENST00000230671.2	+	6	1162	c.791T>C	c.(790-792)cTc>cCc	p.L264P	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L264P	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	264					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGAGTCACCCTCCCAGGGGCC	0.602																																						dbGAP											0													129.0	106.0	114.0					5																	149580719		2203	4300	6503	-	-	-	SO:0001583	missense	0			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.791T>C	5.37:g.149580719T>C	ENSP00000230671:p.Leu264Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG81|Q52LU6	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L264P	ENST00000230671.2	37	c.791	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607371	0.87157	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	D;D	0.84873	-1.91;-1.91	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96877	0.9643	10	0.87932	D	0	.	15.1386	0.72590	0.0:0.0:0.0:1.0	.	264	Q99884	SC6A7_HUMAN	P	264	ENSP00000230671:L264P;ENSP00000428200:L264P	ENSP00000230671:L264P	L	+	2	0	SLC6A7	149560912	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.040000	0.89188	1.973000	0.57446	0.459000	0.35465	CTC	SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000011083		0.602	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	54	0.00	0	T	NM_014228		149580719	149580719	+1	no_errors	ENST00000230671	ensembl	human	known	69_37n	missense	100	16.67	20	SNP	0.998	C
SLC6A9	6536	genome.wustl.edu	37	1	44468025	44468025	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:44468025T>G	ENST00000360584.2	-	8	1332	c.1141A>C	c.(1141-1143)Acc>Ccc	p.T381P	SLC6A9_ENST00000372306.3_Missense_Mutation_p.T308P|SLC6A9_ENST00000537678.1_Missense_Mutation_p.T243P|SLC6A9_ENST00000357730.2_Missense_Mutation_p.T327P|SLC6A9_ENST00000372310.3_Missense_Mutation_p.T308P|SLC6A9_ENST00000372307.3_Missense_Mutation_p.T243P|SLC6A9_ENST00000475075.2_Missense_Mutation_p.T197P	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	381					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GAAGCCATGGTGATGAGGCCT	0.607																																						dbGAP											0													105.0	98.0	100.0					1																	44468025		2203	4300	6503	-	-	-	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1141A>C	1.37:g.44468025T>G	ENSP00000353791:p.Thr381Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.T381P	ENST00000360584.2	37	c.1141	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325381	0.81580	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.997;0.996;0.999;1.0	D;D;D;D;D;D	0.76575	0.978;0.981;0.974;0.956;0.956;0.988	D	0.91787	0.5440	10	0.87932	D	0	.	15.1737	0.72894	0.0:0.0:0.0:1.0	.	312;308;243;308;327;381	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	P	243;308;308;197;381;327;243	ENSP00000361381:T243P;ENSP00000361380:T308P;ENSP00000361384:T308P;ENSP00000434460:T197P;ENSP00000353791:T381P;ENSP00000350362:T327P;ENSP00000442523:T243P	ENSP00000350362:T327P	T	-	1	0	SLC6A9	44240612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.102000	0.57776	2.037000	0.60232	0.533000	0.62120	ACC	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000196517		0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	56	0.00	0	T	NM_201649		44468025	44468025	-1	no_errors	ENST00000360584	ensembl	human	known	69_37n	missense	31	20.00	8	SNP	1.000	G
SLC7A1	6541	genome.wustl.edu	37	13	30096464	30096464	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:30096464A>C	ENST00000380752.5	-	8	1565	c.1179T>G	c.(1177-1179)ggT>ggG	p.G393G	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	393					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGCAACGGCACCCGAGGCTA	0.453																																						dbGAP											0													282.0	256.0	265.0					13																	30096464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1179T>G	13.37:g.30096464A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR50	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.G393	ENST00000380752.5	37	c.1179	CCDS9333.1	13																																																																																			SLC7A1	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000139514		0.453	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	133	0.75	1	A	NM_003045		30096464	30096464	-1	no_errors	ENST00000380752	ensembl	human	known	69_37n	silent	100	15.25	18	SNP	0.818	C
SLC7A6	9057	genome.wustl.edu	37	16	68308700	68308700	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:68308700T>G	ENST00000566454.1	+	4	340	c.71T>G	c.(70-72)gTg>gGg	p.V24G	SLC7A6_ENST00000219343.6_Missense_Mutation_p.V24G	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CAGTCCCAGGTGGAAGAAGAT	0.577																																						dbGAP											0													107.0	94.0	98.0					16																	68308700		2198	4300	6498	-	-	-	SO:0001583	missense	0			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.71T>G	16.37:g.68308700T>G	ENSP00000455064:p.Val24Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.V24G	ENST00000566454.1	37	c.71	CCDS32470.1	16	.	.	.	.	.	.	.	.	.	.	T	3.774	-0.047080	0.07407	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.91407	-2.52;-2.84	5.07	-1.59	0.08453	.	1.754610	0.03200	N	0.174665	T	0.77948	0.4207	N	0.08118	0	0.25043	N	0.991188	B	0.02656	0.0	B	0.01281	0.0	T	0.66160	-0.5993	10	0.21540	T	0.41	.	3.8145	0.08809	0.3242:0.2728:0.0:0.403	.	24	Q92536	YLAT2_HUMAN	G	24	ENSP00000219343:V24G;ENSP00000368448:V24G	ENSP00000219343:V24G	V	+	2	0	SLC7A6	66866201	0.002000	0.14202	0.158000	0.22627	0.225000	0.24961	-0.382000	0.07408	0.026000	0.15269	0.454000	0.30748	GTG	SLC7A6	-	NULL	ENSG00000103064		0.577	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000432466.1	87	0.00	0	T	NM_003983		68308700	68308700	+1	no_errors	ENST00000219343	ensembl	human	known	69_37n	missense	43	21.43	12	SNP	0.009	G
SLC7A6	9057	genome.wustl.edu	37	16	68328637	68328637	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:68328637A>C	ENST00000566454.1	+	9	1321	c.1052A>C	c.(1051-1053)cAc>cCc	p.H351P	SLC7A6_ENST00000219343.6_Missense_Mutation_p.H351P	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CGGGAGGGCCACCTACCGGAC	0.517																																						dbGAP											0													240.0	222.0	228.0					16																	68328637		2198	4300	6498	-	-	-	SO:0001583	missense	0			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1052A>C	16.37:g.68328637A>C	ENSP00000455064:p.His351Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.H351P	ENST00000566454.1	37	c.1052	CCDS32470.1	16	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770467	0.69992	.	.	ENSG00000103064	ENST00000219343	D	0.89617	-2.54	4.89	4.89	0.63831	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95541	0.8551	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96372	0.9274	10	0.87932	D	0	.	12.7515	0.57310	1.0:0.0:0.0:0.0	.	351	Q92536	YLAT2_HUMAN	P	351	ENSP00000219343:H351P	ENSP00000219343:H351P	H	+	2	0	SLC7A6	66886138	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	9.017000	0.93651	1.977000	0.57605	0.459000	0.35465	CAC	SLC7A6	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000103064		0.517	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000432466.1	188	0.53	1	A	NM_003983		68328637	68328637	+1	no_errors	ENST00000219343	ensembl	human	known	69_37n	missense	148	13.37	23	SNP	1.000	C
SLC8A3	6547	genome.wustl.edu	37	14	70633782	70633782	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:70633782A>C	ENST00000381269.2	-	2	2111	c.1358T>G	c.(1357-1359)gTg>gGg	p.V453G	SLC8A3_ENST00000357887.3_Missense_Mutation_p.V453G|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V453G|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V453G|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V453G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	453	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTCAGAACCACCGTGCCCTC	0.483																																						dbGAP											0													160.0	154.0	156.0					14																	70633782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1358T>G	14.37:g.70633782A>C	ENSP00000370669:p.Val453Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.V453G	ENST00000381269.2	37	c.1358	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366155	0.41902	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.68	5.68	0.88126	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.76494	0.981;0.985;0.999;0.999	D;D;D;D	0.87578	0.964;0.979;0.998;0.998	T	0.73040	-0.4108	10	0.87932	D	0	.	15.9398	0.79745	1.0:0.0:0.0:0.0	.	453;453;453;453	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	G	453	ENSP00000349392:V453G;ENSP00000370669:V453G;ENSP00000350560:V453G;ENSP00000436688:V453G;ENSP00000433531:V453G	ENSP00000349392:V453G	V	-	2	0	SLC8A3	69703535	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	7.502000	0.81614	2.152000	0.67230	0.523000	0.50628	GTG	SLC8A3	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000100678		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	306	0.65	2	A			70633782	70633782	-1	no_errors	ENST00000381269	ensembl	human	known	69_37n	missense	219	15.06	39	SNP	1.000	C
SLC9A2	6549	genome.wustl.edu	37	2	103324778	103324778	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:103324778A>C	ENST00000233969.2	+	12	2411	c.2269A>C	c.(2269-2271)Acc>Ccc	p.T757P		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	757					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGAAAAGGGCACCCAGACGTC	0.552																																						dbGAP											0													137.0	147.0	143.0					2																	103324778		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2269A>C	2.37:g.103324778A>C	ENSP00000233969:p.Thr757Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T757P	ENST00000233969.2	37	c.2269	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	A	5.977	0.364212	0.11296	.	.	ENSG00000115616	ENST00000233969	T	0.56776	0.44	5.77	3.37	0.38596	.	1.565980	0.03337	N	0.194285	T	0.38161	0.1030	N	0.19112	0.55	0.27010	N	0.964701	B	0.02656	0.0	B	0.01281	0.0	T	0.22836	-1.0205	10	0.20519	T	0.43	.	6.2788	0.20995	0.7466:0.1685:0.085:0.0	.	757	Q9UBY0	SL9A2_HUMAN	P	757	ENSP00000233969:T757P	ENSP00000233969:T757P	T	+	1	0	SLC9A2	102691210	0.805000	0.28982	1.000000	0.80357	0.077000	0.17291	0.714000	0.25808	1.005000	0.39183	0.528000	0.53228	ACC	SLC9A2	-	prints_Na/H_exchanger_2	ENSG00000115616		0.552	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	328	0.90	3	A			103324778	103324778	+1	no_errors	ENST00000233969	ensembl	human	known	69_37n	missense	193	16.74	39	SNP	0.997	C
SLC9A6	10479	genome.wustl.edu	37	X	135098870	135098870	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135098870A>C	ENST00000370698.3	+	10	1242	c.1207A>C	c.(1207-1209)Acc>Ccc	p.T403P	SLC9A6_ENST00000370701.1_Missense_Mutation_p.T383P|SLC9A6_ENST00000370695.4_Missense_Mutation_p.T435P	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	403					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GACACTGTTCACCTTCCAGAA	0.333																																						dbGAP											0													129.0	110.0	116.0					X																	135098870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1207A>C	X.37:g.135098870A>C	ENSP00000359732:p.Thr403Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T435P	ENST00000370698.3	37	c.1303	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859966	0.71834	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.16196	2.36;2.36;2.36	5.67	5.67	0.87782	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.93462	3.42	0.80722	D	1	D;D	0.57257	0.973;0.979	P;D	0.67725	0.894;0.953	T	0.64613	-0.6366	10	0.87932	D	0	.	14.0302	0.64610	1.0:0.0:0.0:0.0	.	435;403	Q92581-2;Q92581	.;SL9A6_HUMAN	P	383;403;435	ENSP00000359735:T383P;ENSP00000359732:T403P;ENSP00000359729:T435P	ENSP00000359729:T435P	T	+	1	0	SLC9A6	134926536	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.868000	0.63021	1.911000	0.55334	0.486000	0.48141	ACC	SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000198689		0.333	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	152	0.00	0	A	NM_006359		135098870	135098870	+1	no_errors	ENST00000370695	ensembl	human	known	69_37n	missense	147	16.95	30	SNP	1.000	C
SLCO1B1	10599	genome.wustl.edu	37	12	21358919	21358919	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:21358919A>C	ENST00000256958.2	+	11	1545	c.1449A>C	c.(1447-1449)tcA>tcC	p.S483S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	483	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTTACATCTCACCCTGTCTAG	0.373																																						dbGAP											0													138.0	136.0	136.0					12																	21358919		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1449A>C	12.37:g.21358919A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S483	ENST00000256958.2	37	c.1449	CCDS8685.1	12																																																																																			SLCO1B1	-	pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.373	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	278	0.71	2	A	NM_006446		21358919	21358919	+1	no_errors	ENST00000256958	ensembl	human	known	69_37n	silent	215	22.66	63	SNP	0.986	C
SLCO1A2	6579	genome.wustl.edu	37	12	21445269	21445269	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:21445269A>C	ENST00000307378.6	-	13	2159	c.1439T>G	c.(1438-1440)gTg>gGg	p.V480G	SLCO1A2_ENST00000452078.1_Splice_Site_p.V480G|SLCO1A2_ENST00000458504.1_Splice_Site_p.V348G|SLCO1A2_ENST00000537524.1_Splice_Site_p.V348G|SLCO1A2_ENST00000390670.3_Splice_Site_p.V478G	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	480	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATTTTGGAACACCTGCCAAAA	0.383																																						dbGAP											0													65.0	66.0	66.0					12																	21445269		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1438-1T>G	12.37:g.21445269A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V480G	ENST00000307378.6	37	c.1439	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097006	0.37048	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.09	3.93	0.45458	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.338109	0.30428	N	0.009641	T	0.20495	0.0493	M	0.89904	3.07	0.58432	D	0.999996	B;B	0.31383	0.122;0.321	B;B	0.43728	0.056;0.429	T	0.01762	-1.1279	10	0.62326	D	0.03	.	11.7184	0.51668	0.8428:0.1572:0.0:0.0	.	478;480	P46721-2;P46721	.;SO1A2_HUMAN	G	480;480;348;348;478	ENSP00000305974:V480G;ENSP00000393973:V480G;ENSP00000394854:V348G;ENSP00000439401:V348G;ENSP00000375088:V478G	ENSP00000305974:V480G	V	-	2	0	SLCO1A2	21336536	0.999000	0.42202	1.000000	0.80357	0.873000	0.50193	4.071000	0.57556	2.138000	0.66242	0.460000	0.39030	GTG	SLCO1A2	-	pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.383	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	157	0.00	0	A	NM_021094	Missense_Mutation	21445269	21445269	-1	no_errors	ENST00000307378	ensembl	human	known	69_37n	missense	97	18.49	22	SNP	0.996	C
SLCO6A1	133482	genome.wustl.edu	37	5	101795438	101795438	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:101795438A>C	ENST00000506729.1	-	5	1114	c.943T>G	c.(943-945)Tgg>Ggg	p.W315G	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.W253G|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.W315G|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAATTAATCCACCAAGTCCAT	0.323																																						dbGAP											0													99.0	93.0	95.0					5																	101795438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.943T>G	5.37:g.101795438A>C	ENSP00000421339:p.Trp315Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.W315G	ENST00000506729.1	37	c.943	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	A	9.574	1.121901	0.20877	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.79940	-1.32;-1.32;-1.32	4.44	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);	0.301359	0.29185	N	0.012891	D	0.83013	0.5162	M	0.75777	2.31	0.80722	D	1	P;P	0.44578	0.644;0.838	B;P	0.51016	0.31;0.656	T	0.82275	-0.0538	10	0.87932	D	0	.	7.1508	0.25610	0.8008:0.0:0.0:0.1992	.	253;315	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	G	315;315;253	ENSP00000421339:W315G;ENSP00000369135:W315G;ENSP00000373671:W253G	ENSP00000369135:W315G	W	-	1	0	SLCO6A1	101823337	0.999000	0.42202	0.983000	0.44433	0.108000	0.19459	0.654000	0.24918	0.794000	0.33899	0.533000	0.62120	TGG	SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.323	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	198	1.00	2	A	NM_173488		101795438	101795438	-1	no_errors	ENST00000379807	ensembl	human	known	69_37n	missense	179	16.74	36	SNP	0.997	C
SLFN11	91607	genome.wustl.edu	37	17	33679577	33679577	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:33679577A>C	ENST00000394566.1	-	7	2776	c.2504T>G	c.(2503-2505)gTg>gGg	p.V835G	SLFN11_ENST00000308377.4_Missense_Mutation_p.V835G	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	835					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGCTGCACCACCCTTTTCTT	0.478																																						dbGAP											0													238.0	204.0	216.0					17																	33679577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2504T>G	17.37:g.33679577A>C	ENSP00000378067:p.Val835Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.V835G	ENST00000394566.1	37	c.2504	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	a	5.482	0.274030	0.10403	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02050	4.48;4.48	4.0	-1.24	0.09435	.	4.347320	0.00644	N	0.000525	T	0.02455	0.0075	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46219	-0.9207	10	0.22706	T	0.39	.	3.8839	0.09090	0.3799:0.3872:0.2329:0.0	.	835	Q7Z7L1	SLN11_HUMAN	G	835	ENSP00000312402:V835G;ENSP00000378067:V835G	ENSP00000312402:V835G	V	-	2	0	SLFN11	30703690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.330000	0.02675	-0.060000	0.13132	-0.274000	0.10170	GTG	SLFN11	-	NULL	ENSG00000172716		0.478	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	238	0.42	1	A	NM_152270		33679577	33679577	-1	no_errors	ENST00000308377	ensembl	human	known	69_37n	missense	211	18.46	48	SNP	0.000	C
SLFN13	146857	genome.wustl.edu	37	17	33767804	33767804	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:33767804A>C	ENST00000285013.6	-	6	2779	c.2504T>G	c.(2503-2505)gTg>gGg	p.V835G	SLFN13_ENST00000533791.1_Missense_Mutation_p.V835G|SLFN13_ENST00000360502.2_Missense_Mutation_p.V517G|SLFN13_ENST00000526861.1_Missense_Mutation_p.V835G|SLFN13_ENST00000534689.1_Missense_Mutation_p.V517G|SLFN13_ENST00000542635.1_Missense_Mutation_p.V835G	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	835						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGCTGCACCACCATTTTCTT	0.493																																						dbGAP											0													254.0	210.0	225.0					17																	33767804		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2504T>G	17.37:g.33767804A>C	ENSP00000285013:p.Val835Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.V835G	ENST00000285013.6	37	c.2504	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	a	1.669	-0.509488	0.04231	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03413	4.53;3.94;4.53;4.53;3.94	2.41	1.1	0.20463	.	3.499010	0.00964	N	0.003140	T	0.04407	0.0121	L	0.46157	1.445	0.09310	N	1	B;B	0.30068	0.002;0.267	B;B	0.25291	0.004;0.059	T	0.41627	-0.9498	10	0.22109	T	0.4	.	4.822	0.13396	0.6739:0.3261:0.0:0.0	.	517;835	Q68D06-2;Q68D06	.;SLN13_HUMAN	G	835;517;835;835;517	ENSP00000285013:V835G;ENSP00000353692:V517G;ENSP00000434439:V835G;ENSP00000444016:V835G;ENSP00000435442:V517G	ENSP00000285013:V835G	V	-	2	0	SLFN13	30791917	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.598000	0.05706	1.095000	0.41419	0.329000	0.21502	GTG	SLFN13	-	NULL	ENSG00000154760		0.493	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	257	0.00	0	A	NM_144682		33767804	33767804	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	missense	232	11.41	30	SNP	0.000	C
SLFNL1	200172	genome.wustl.edu	37	1	41481890	41481890	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:41481890A>C	ENST00000359345.1	-	4	3688	c.1112T>G	c.(1111-1113)gTg>gGg	p.V371G	SLFNL1_ENST00000439569.2_Missense_Mutation_p.V371G|SLFNL1_ENST00000302946.8_Missense_Mutation_p.V371G|SLFNL1_ENST00000372613.2_Missense_Mutation_p.V323G|SLFNL1_ENST00000372611.1_Missense_Mutation_p.V312G|SLFNL1_ENST00000397197.2_Missense_Mutation_p.V323G	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	371							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCCCAGCTCCACCAGCCACCT	0.637																																						dbGAP											0													83.0	78.0	79.0					1																	41481890		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.1112T>G	1.37:g.41481890A>C	ENSP00000352299:p.Val371Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.V371G	ENST00000359345.1	37	c.1112	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.681536	0.29872	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.25250	1.94;1.81;1.94;1.94;1.94;1.81	5.15	0.836	0.18891	.	0.909229	0.09145	N	0.842417	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B;B;B	0.33171	0.103;0.4;0.063	B;B;B	0.30855	0.085;0.121;0.039	T	0.33059	-0.9883	10	0.22109	T	0.4	-2.8623	7.4552	0.27261	0.3958:0.0:0.6042:0.0	.	323;312;371	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	G	371;323;312;371;371;323	ENSP00000304401:V371G;ENSP00000361696:V323G;ENSP00000361694:V312G;ENSP00000352299:V371G;ENSP00000398938:V371G;ENSP00000380381:V323G	ENSP00000304401:V371G	V	-	2	0	SLFNL1	41254477	0.000000	0.05858	0.000000	0.03702	0.941000	0.58515	-0.032000	0.12266	-0.114000	0.11936	0.459000	0.35465	GTG	SLFNL1	-	NULL	ENSG00000171790		0.637	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1	103	0.96	1	A	NM_144990		41481890	41481890	-1	no_errors	ENST00000302946	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.000	C
SLIT1	6585	genome.wustl.edu	37	10	98923169	98923169	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:98923169A>C	ENST00000266058.4	-	3	554	c.309T>G	c.(307-309)ggT>ggG	p.G103G	SLIT1_ENST00000371041.3_Silent_p.G103G|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Silent_p.G103G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	103					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CATCAAAAGCACCACGTTCCA	0.607																																						dbGAP											0													273.0	264.0	267.0					10																	98923169		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.309T>G	10.37:g.98923169A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G103	ENST00000266058.4	37	c.309	CCDS7453.1	10																																																																																			SLIT1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000187122		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	329	0.30	1	A	NM_003061		98923169	98923169	-1	no_errors	ENST00000266058	ensembl	human	known	69_37n	silent	251	13.15	38	SNP	0.984	C
SLIT2	9353	genome.wustl.edu	37	4	20598062	20598062	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:20598062A>C	ENST00000504154.1	+	32	3597	c.3345A>C	c.(3343-3345)ccA>ccC	p.P1115P	SLIT2_ENST00000503823.1_Silent_p.P1107P|SLIT2_ENST00000503837.1_Silent_p.P1111P|SLIT2_ENST00000273739.5_Silent_p.P1128P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1115					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTTTTCTCCACCCATGGTCC	0.388																																						dbGAP											0													81.0	85.0	84.0					4																	20598062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3345A>C	4.37:g.20598062A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1115	ENST00000504154.1	37	c.3345	CCDS3426.1	4																																																																																			SLIT2	-	NULL	ENSG00000145147		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	159	0.00	0	A			20598062	20598062	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	silent	156	18.65	36	SNP	0.002	C
SLITRK2	84631	genome.wustl.edu	37	X	144904958	144904958	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:144904958A>C	ENST00000370490.1	+	1	5270	c.1015A>C	c.(1015-1017)Acc>Ccc	p.T339P	SLITRK2_ENST00000447897.2_Missense_Mutation_p.T339P|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T339P|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T339P|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T339P			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	339	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGCCTCTCACCTGTCCCAG	0.493																																						dbGAP											0													72.0	65.0	67.0					X																	144904958		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1015A>C	X.37:g.144904958A>C	ENSP00000359521:p.Thr339Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T339P	ENST00000370490.1	37	c.1015	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	A	9.421	1.082910	0.20309	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50813	0.77;0.73;0.73;0.73;0.73;0.73	5.67	4.52	0.55395	Leucine-rich repeat-containing N-terminal (1);	0.204209	0.39834	N	0.001258	T	0.28466	0.0704	N	0.17800	0.525	0.41794	D	0.989889	B	0.29232	0.238	B	0.28784	0.094	T	0.10337	-1.0634	10	0.19147	T	0.46	-9.6555	8.1093	0.30905	0.9052:0.0:0.0948:0.0	.	339	Q9H156	SLIK2_HUMAN	P	339	ENSP00000334374:T339P;ENSP00000411681:T339P;ENSP00000359521:T339P;ENSP00000397015:T339P;ENSP00000407347:T339P;ENSP00000412010:T339P	ENSP00000334374:T339P	T	+	1	0	SLITRK2	144712650	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	2.813000	0.48002	1.891000	0.54761	0.486000	0.48141	ACC	SLITRK2	-	smart_LRR-contain_N	ENSG00000185985		0.493	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	119	0.00	0	A	NM_032539		144904958	144904958	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	missense	66	19.28	16	SNP	1.000	C
SLITRK5	26050	genome.wustl.edu	37	13	88329391	88329391	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:88329391T>G	ENST00000325089.6	+	2	1967	c.1748T>G	c.(1747-1749)gTg>gGg	p.V583G	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V342G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	583	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGCTCAAAGTGGGCGTCCTA	0.527																																						dbGAP											0													156.0	141.0	146.0					13																	88329391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1748T>G	13.37:g.88329391T>G	ENSP00000366283:p.Val583Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V583G	ENST00000325089.6	37	c.1748	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	T	7.988	0.752716	0.15778	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.53423	0.65;0.62	5.26	0.125	0.14718	Cysteine-rich flanking region, C-terminal (1);	0.372980	0.26844	N	0.022204	T	0.30008	0.0751	L	0.29908	0.895	0.54753	D	0.999985	B;B	0.14438	0.007;0.01	B;B	0.20184	0.028;0.019	T	0.06303	-1.0834	9	.	.	.	-1.9511	8.3672	0.32393	0.0:0.3216:0.0:0.6784	.	342;583	B4DSH5;O94991	.;SLIK5_HUMAN	G	583;342	ENSP00000366283:V583G;ENSP00000442244:V342G	.	V	+	2	0	SLITRK5	87127392	0.337000	0.24766	0.985000	0.45067	0.997000	0.91878	0.981000	0.29526	-0.192000	0.10432	0.454000	0.30748	GTG	SLITRK5	-	smart_Cys-rich_flank_reg_C	ENSG00000165300		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	188	0.00	0	T			88329391	88329391	+1	no_errors	ENST00000325089	ensembl	human	known	69_37n	missense	132	13.64	21	SNP	0.998	G
SLK	9748	genome.wustl.edu	37	10	105762853	105762853	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:105762853T>G	ENST00000369755.3	+	9	2462	c.1917T>G	c.(1915-1917)ggT>ggG	p.G639G	SLK_ENST00000335753.4_Silent_p.G639G	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	639	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAACTGAAGGTGAAGAAATCA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											0													96.0	87.0	90.0					10																	105762853		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1917T>G	10.37:g.105762853T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	pfam_PKK,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,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom	p.G639	ENST00000369755.3	37	c.1917	CCDS7553.1	10																																																																																			SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	139	0.00	0	T	NM_014720		105762853	105762853	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	silent	122	12.86	18	SNP	0.016	G
SLPI	6590	genome.wustl.edu	37	20	43881772	43881772	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:43881772A>C	ENST00000338380.2	-	3	285	c.265T>G	c.(265-267)Tgc>Ggc	p.C89G		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	89	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTCACTGGGCACTTCCCAGGC	0.532																																					GBM(64;162 1089 31780 33427 34538)	dbGAP											0													105.0	93.0	97.0					20																	43881772		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.265T>G	20.37:g.43881772A>C	ENSP00000342082:p.Cys89Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5H8|P07757	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.C89G	ENST00000338380.2	37	c.265	CCDS13347.1	20	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229407	0.58777	.	.	ENSG00000124107	ENST00000338380	D	0.99239	-5.61	5.3	5.3	0.74995	Whey acidic protein, 4-disulphide core (5);	0.000000	0.48767	D	0.000175	D	0.99606	0.9857	H	0.97291	3.975	0.35099	D	0.765018	D	0.89917	1.0	D	0.91635	0.999	D	0.98789	1.0735	10	0.87932	D	0	.	11.9375	0.52882	1.0:0.0:0.0:0.0	.	89	P03973	SLPI_HUMAN	G	89	ENSP00000342082:C89G	ENSP00000342082:C89G	C	-	1	0	SLPI	43315186	0.989000	0.36119	0.156000	0.22583	0.001000	0.01503	4.403000	0.59729	2.137000	0.66172	0.533000	0.62120	TGC	SLPI	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core	ENSG00000124107		0.532	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLPI	HGNC	protein_coding	OTTHUMT00000080494.3	96	0.00	0	A			43881772	43881772	-1	no_errors	ENST00000338380	ensembl	human	known	69_37n	missense	123	10.87	15	SNP	0.532	C
SLTM	79811	genome.wustl.edu	37	15	59175919	59175919	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:59175919A>C	ENST00000380516.2	-	20	2989	c.2902T>G	c.(2902-2904)Tgg>Ggg	p.W968G	SLTM_ENST00000536328.1_Missense_Mutation_p.W537G	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	968					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGACCATGCCACTCTTTCCTT	0.522																																						dbGAP											0													194.0	160.0	171.0					15																	59175919		2192	4292	6484	-	-	-	SO:0001583	missense	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2902T>G	15.37:g.59175919A>C	ENSP00000369887:p.Trp968Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.W968G	ENST00000380516.2	37	c.2902	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250216	0.80024	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.16897	2.31	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000055	T	0.39172	0.1068	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	T	0.11767	-1.0574	10	0.87932	D	0	.	16.3083	0.82859	1.0:0.0:0.0:0.0	.	968;537	Q9NWH9;A8K5V8	SLTM_HUMAN;.	G	968;534;537	ENSP00000369887:W968G	ENSP00000369887:W968G	W	-	1	0	SLTM	56963211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.348000	0.66004	2.250000	0.74265	0.455000	0.32223	TGG	SLTM	-	NULL	ENSG00000137776		0.522	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	161	0.61	1	A	NM_024755		59175919	59175919	-1	no_errors	ENST00000380516	ensembl	human	known	69_37n	missense	131	15.29	24	SNP	1.000	C
SMAD2	4087	genome.wustl.edu	37	18	45423010	45423010	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:45423010A>C	ENST00000402690.2	-	2	512	c.118T>G	c.(118-120)Tgg>Ggg	p.W40G	SMAD2_ENST00000591214.1_Missense_Mutation_p.W40G|SMAD2_ENST00000586040.1_Missense_Mutation_p.W40G|SMAD2_ENST00000262160.6_Missense_Mutation_p.W40G|SMAD2_ENST00000356825.4_Missense_Mutation_p.W40G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	40	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTCTCACACCACTTTTCTTCC	0.483																																						dbGAP											0													257.0	233.0	241.0					18																	45423010		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.118T>G	18.37:g.45423010A>C	ENSP00000384449:p.Trp40Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.W40G	ENST00000402690.2	37	c.118	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218909	0.79464	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.71817	-0.6;-0.6;-0.6	5.36	5.36	0.76844	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.84365	0.5456	M	0.81112	2.525	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.996	D;D;D	0.73380	0.947;0.98;0.911	D	0.86822	0.2005	10	0.87932	D	0	.	15.6517	0.77099	1.0:0.0:0.0:0.0	.	40;40;40	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	G	40	ENSP00000262160:W40G;ENSP00000349282:W40G;ENSP00000384449:W40G	ENSP00000262160:W40G	W	-	1	0	SMAD2	43677008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.158000	0.67659	0.454000	0.30748	TGG	SMAD2	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000175387		0.483	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	107	0.93	1	A	NM_005901		45423010	45423010	-1	no_errors	ENST00000262160	ensembl	human	known	69_37n	missense	92	17.86	20	SNP	1.000	C
SMAD5	4090	genome.wustl.edu	37	5	135496674	135496674	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:135496674A>C	ENST00000545279.1	+	4	893	c.533A>C	c.(532-534)cAc>cCc	p.H178P	SMAD5_ENST00000545620.1_Missense_Mutation_p.H178P|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	178					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCTTTCCACCAGCCCAAC	0.483																																						dbGAP											0													323.0	337.0	332.0					5																	135496674		1982	4197	6179	-	-	-	SO:0001583	missense	0			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.533A>C	5.37:g.135496674A>C	ENSP00000441954:p.His178Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H178P	ENST00000545279.1	37	c.533		5	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813329	0.32053	.	.	ENSG00000113658	ENST00000545279;ENST00000545620	D;D	0.92299	-3.01;-3.01	5.59	3.06	0.35304	.	0.269283	0.43747	D	0.000528	T	0.80226	0.4584	N	0.04880	-0.145	0.31227	N	0.696739	B	0.02656	0.0	B	0.01281	0.0	T	0.71196	-0.4664	10	0.27785	T	0.31	.	8.7716	0.34735	0.7398:0.1332:0.0:0.127	.	178	F5GWU7	.	P	178	ENSP00000441954:H178P;ENSP00000446474:H178P	ENSP00000425018:H178P	H	+	2	0	SMAD5	135524573	0.998000	0.40836	0.999000	0.59377	0.991000	0.79684	2.401000	0.44513	0.334000	0.23590	0.528000	0.53228	CAC	SMAD5	-	NULL	ENSG00000113658		0.483	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		701	0.00	0	A	NM_005903		135496674	135496674	+1	no_errors	ENST00000545279	ensembl	human	known	69_37n	missense	534	13.99	87	SNP	1.000	C
SMAP1	60682	genome.wustl.edu	37	6	71562340	71562340	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:71562340A>C	ENST00000370455.3	+	8	1010	c.762A>C	c.(760-762)ttA>ttC	p.L254F	SMAP1_ENST00000370452.3_Missense_Mutation_p.L227F|SMAP1_ENST00000316999.5_Missense_Mutation_p.L227F	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	254					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CTAATCCCTTACCTGCAACTG	0.443																																						dbGAP											0													182.0	161.0	168.0					6																	71562340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.762A>C	6.37:g.71562340A>C	ENSP00000359484:p.Leu254Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP	p.L254F	ENST00000370455.3	37	c.762	CCDS43478.1	6	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929837	0.52759	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.25414	2.07;2.11;1.8	5.95	0.915	0.19366	.	0.818091	0.11305	N	0.577842	T	0.30135	0.0755	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;0.996	P;D;D;P	0.91635	0.881;0.999;0.999;0.891	T	0.22487	-1.0215	10	0.27082	T	0.32	-0.0587	9.449	0.38714	0.6712:0.0:0.3288:0.0	.	254;227;227;254	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	F	227;227;254	ENSP00000359481:L227F;ENSP00000313382:L227F;ENSP00000359484:L254F	ENSP00000313382:L227F	L	+	3	2	SMAP1	71619061	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	1.100000	0.31025	-0.051000	0.13334	0.459000	0.35465	TTA	SMAP1	-	NULL	ENSG00000112305		0.443	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	282	0.35	1	A	NM_001044305		71562340	71562340	+1	no_errors	ENST00000370455	ensembl	human	known	69_37n	missense	177	17.29	37	SNP	0.998	C
SMARCA5	8467	genome.wustl.edu	37	4	144464812	144464812	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:144464812T>G	ENST00000283131.3	+	15	2514		c.e15+2			NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GCAAAGAAGGTGAGATGTAGA	0.308																																						dbGAP											0													93.0	94.0	94.0					4																	144464812		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2052+2T>G	4.37:g.144464812T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e15+2	ENST00000283131.3	37	c.2052+2	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454668	0.63290	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6025	0.76636	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA5	144684262	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.093000	0.71422	2.083000	0.62718	0.482000	0.46254	.	SMARCA5	-	-	ENSG00000153147		0.308	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	258	0.00	0	T		Intron	144464812	144464812	+1	no_errors	ENST00000283131	ensembl	human	known	69_37n	splice_site	179	11.39	23	SNP	1.000	G
SMARCC2	6601	genome.wustl.edu	37	12	56565153	56565153	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56565153A>C	ENST00000267064.4	-	21	2242	c.2156T>G	c.(2155-2157)gTg>gGg	p.V719G	SMARCC2_ENST00000347471.4_Missense_Mutation_p.V750G|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V750G|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V750G|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	719					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGCTTCTTCCACTTTTCGAAC	0.557																																						dbGAP											0													149.0	136.0	140.0					12																	56565153		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2156T>G	12.37:g.56565153A>C	ENSP00000267064:p.Val719Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.V719G	ENST00000267064.4	37	c.2156	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816559	0.90790	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.56444	1.15;0.46;0.53;0.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	L	0.59912	1.85	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999	D;D;D;D;D	0.80764	0.987;0.994;0.987;0.987;0.994	T	0.71919	-0.4447	10	0.87932	D	0	-14.0762	14.9741	0.71257	1.0:0.0:0.0:0.0	.	639;750;754;719;750	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	G	750;750;750;719	ENSP00000377591:V750G;ENSP00000449396:V750G;ENSP00000302919:V750G;ENSP00000267064:V719G	ENSP00000267064:V719G	V	-	2	0	SMARCC2	54851420	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.242000	0.73789	0.533000	0.62120	GTG	SMARCC2	-	superfamily_Chromodomain-like	ENSG00000139613		0.557	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	79	0.00	0	A			56565153	56565153	-1	no_errors	ENST00000267064	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	C
SMC1B	27127	genome.wustl.edu	37	22	45785696	45785696	+	Missense_Mutation	SNP	T	T	G	rs77540822		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:45785696T>G	ENST00000357450.4	-	10	1626	c.1627A>C	c.(1627-1629)Act>Cct	p.T543P	SMC1B_ENST00000404354.3_Missense_Mutation_p.T543P	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	543	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACAATGGCAGTGATGAACCGG	0.408																																						dbGAP											0													136.0	127.0	130.0					22																	45785696		1868	4116	5984	-	-	-	SO:0001583	missense	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1627A>C	22.37:g.45785696T>G	ENSP00000350036:p.Thr543Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.T543P	ENST00000357450.4	37	c.1627	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	T	9.511	1.105780	0.20632	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85773	-2.03;-2.03	5.39	0.961	0.19638	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.813515	0.10675	N	0.647018	T	0.73606	0.3608	L	0.29908	0.895	0.22562	N	0.998982	B;P;P	0.35348	0.007;0.496;0.496	B;B;B	0.34873	0.016;0.134;0.191	T	0.64778	-0.6327	10	0.87932	D	0	.	3.2096	0.06677	0.1828:0.3618:0.0:0.4554	.	543;543;543	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	P	543	ENSP00000350036:T543P;ENSP00000385902:T543P	ENSP00000350036:T543P	T	-	1	0	SMC1B	44164360	0.008000	0.16893	0.970000	0.41538	0.333000	0.28666	-0.089000	0.11180	0.246000	0.21394	-0.242000	0.12053	ACT	SMC1B	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000077935		0.408	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	158	0.00	0	T	NM_148674		45785696	45785696	-1	no_errors	ENST00000357450	ensembl	human	known	69_37n	missense	137	11.04	17	SNP	0.991	G
SMG1	23049	genome.wustl.edu	37	16	18826947	18826947	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:18826947A>C	ENST00000446231.2	-	59	10741	c.10329T>G	c.(10327-10329)ggT>ggG	p.G3443G	SMG1_ENST00000389467.3_Silent_p.G3444G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3443					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						GAACATCTTCACCATCTGCCA	0.353																																						dbGAP											0													80.0	73.0	75.0					16																	18826947		1879	4105	5984	-	-	-	SO:0001819	synonymous_variant	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.10329T>G	16.37:g.18826947A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	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.G3444	ENST00000446231.2	37	c.10332	CCDS45430.1	16																																																																																			SMG1	-	NULL	ENSG00000157106		0.353	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	134	0.00	0	A	NM_015092		18826947	18826947	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	silent	93	15.45	17	SNP	0.998	C
SMG1	23049	genome.wustl.edu	37	16	18844387	18844387	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:18844387A>C	ENST00000446231.2	-	51	9079	c.8667T>G	c.(8665-8667)ggT>ggG	p.G2889G	SMG1_ENST00000389467.3_Silent_p.G2889G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2889			G -> S (in dbSNP:rs35952340). {ECO:0000269|PubMed:17344846}.		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						GCTCAATAAGACCGTCCAGTT	0.443																																						dbGAP											0													200.0	191.0	194.0					16																	18844387		1935	4130	6065	-	-	-	SO:0001819	synonymous_variant	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.8667T>G	16.37:g.18844387A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	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.G2889	ENST00000446231.2	37	c.8667	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	274	0.00	0	A	NM_015092		18844387	18844387	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	silent	200	15.55	37	SNP	0.563	C
SMG6	23293	genome.wustl.edu	37	17	1989103	1989103	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:1989103A>C	ENST00000263073.6	-	14	3500	c.3450T>G	c.(3448-3450)ggT>ggG	p.G1150G	SMG6_ENST00000544865.1_Silent_p.G1119G|SMG6_ENST00000354901.4_Silent_p.G242G|SMG6_ENST00000536871.2_Silent_p.G242G|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1150					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CATACTTTCCACCCTTGAATG	0.512																																					Melanoma(59;28 1088 11621 25887 46638 50814)	dbGAP											0													272.0	259.0	263.0					17																	1989103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3450T>G	17.37:g.1989103A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.G1150	ENST00000263073.6	37	c.3450	CCDS11016.1	17																																																																																			SMG6	-	NULL	ENSG00000070366		0.512	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	200	0.99	2	A			1989103	1989103	-1	no_errors	ENST00000263073	ensembl	human	known	69_37n	silent	192	17.87	42	SNP	1.000	C
SMO	6608	genome.wustl.edu	37	7	128846152	128846152	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:128846152A>C	ENST00000249373.3	+	5	1362	c.1082A>C	c.(1081-1083)cAc>cCc	p.H361P		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	361					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	TCCTACTTCCACCTGCTCACC	0.577			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													209.0	165.0	180.0					7																	128846152		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1082A>C	7.37:g.128846152A>C	ENSP00000249373:p.His361Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.H361P	ENST00000249373.3	37	c.1082	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269429	0.80469	.	.	ENSG00000128602	ENST00000249373	D	0.89123	-2.47	5.54	5.54	0.83059	GPCR, family 2-like (1);	0.093297	0.85682	D	0.000000	D	0.95519	0.8544	M	0.92077	3.27	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.959	D	0.96356	0.9262	10	0.87932	D	0	.	13.4197	0.60989	1.0:0.0:0.0:0.0	.	361;361	A4D1K5;Q99835	.;SMO_HUMAN	P	361	ENSP00000249373:H361P	ENSP00000249373:H361P	H	+	2	0	SMO	128633388	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.339000	0.96797	2.105000	0.64084	0.454000	0.30748	CAC	SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000128602		0.577	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	123	0.00	0	A	NM_005631		128846152	128846152	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	missense	85	15.00	15	SNP	1.000	C
SMOX	54498	genome.wustl.edu	37	20	4162972	4162972	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:4162972T>G	ENST00000305958.4	+	5	1071	c.846T>G	c.(844-846)ggT>ggG	p.G282G	SMOX_ENST00000278795.3_Splice_Site|SMOX_ENST00000339123.6_Splice_Site|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Silent_p.G282G	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	282					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGCCCCGGGGTGAGGGCGACC	0.677																																						dbGAP											0													19.0	21.0	20.0					20																	4162972		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.846T>G	20.37:g.4162972T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Splice_Site	SNP	-	e4+2	ENST00000305958.4	37	c.844+2	CCDS13075.1	20	.	.	.	.	.	.	.	.	.	.	T	4.213	0.038318	0.08148	.	.	ENSG00000088826	ENST00000339123;ENST00000278795	.	.	.	4.3	-8.6	0.00889	.	.	.	.	.	.	.	.	.	.	.	0.36670	D	0.878434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.926	0.13894	0.0967:0.3656:0.3993:0.1384	.	.	.	.	.	-1	.	.	.	+	.	.	SMOX	4110972	0.000000	0.05858	0.017000	0.16124	0.954000	0.61252	-0.606000	0.05654	-1.575000	0.01655	-0.385000	0.06624	.	SMOX	-	-	ENSG00000088826		0.677	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	41	0.00	0	T	NM_175842		4162972	4162972	+1	no_errors	ENST00000278795	ensembl	human	known	69_37n	splice_site	27	22.22	8	SNP	0.034	G
SMR3A	26952	genome.wustl.edu	37	4	71232636	71232636	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71232636A>C	ENST00000226460.4	+	3	426	c.330A>C	c.(328-330)agA>agC	p.R110S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	110	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CCCAACCAAGACCCTATCCAC	0.527																																						dbGAP											0													147.0	135.0	139.0					4																	71232636		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.330A>C	4.37:g.71232636A>C	ENSP00000226460:p.Arg110Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R110S	ENST00000226460.4	37	c.330	CCDS34000.1	4	.	.	.	.	.	.	.	.	.	.	A	6.370	0.436411	0.12104	.	.	ENSG00000109208	ENST00000226460	T	0.27256	1.68	2.79	-4.57	0.03421	.	.	.	.	.	T	0.11110	0.0271	N	0.19112	0.55	0.09310	N	1	B	0.25312	0.123	B	0.16289	0.015	T	0.21381	-1.0247	9	0.48119	T	0.1	.	1.3267	0.02127	0.2551:0.1813:0.3852:0.1784	.	110	Q99954	SMR3A_HUMAN	S	110	ENSP00000226460:R110S	ENSP00000226460:R110S	R	+	3	2	SMR3A	71267225	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.500000	0.06405	-1.101000	0.03027	-0.441000	0.05720	AGA	SMR3A	-	NULL	ENSG00000109208		0.527	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	360	0.28	1	A	NM_012390		71232636	71232636	+1	no_errors	ENST00000226460	ensembl	human	known	69_37n	missense	330	12.93	49	SNP	0.000	C
SMR3A	26952	genome.wustl.edu	37	4	71232645	71232645	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71232645A>C	ENST00000226460.4	+	3	435	c.339A>C	c.(337-339)ccA>ccC	p.P113P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	113	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GACCCTATCCACCTGGACCTC	0.527																																						dbGAP											0													140.0	131.0	134.0					4																	71232645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.339A>C	4.37:g.71232645A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P113	ENST00000226460.4	37	c.339	CCDS34000.1	4																																																																																			SMR3A	-	NULL	ENSG00000109208		0.527	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	337	0.58	2	A	NM_012390		71232645	71232645	+1	no_errors	ENST00000226460	ensembl	human	known	69_37n	silent	282	18.39	64	SNP	0.001	C
SMR3A	26952	genome.wustl.edu	37	4	71232705	71232705	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:71232705A>C	ENST00000226460.4	+	3	495	c.399A>C	c.(397-399)gcA>gcC	p.A133A		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	133	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTACTCCTGCACCCTAAATAC	0.478																																						dbGAP											0													74.0	71.0	72.0					4																	71232705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.399A>C	4.37:g.71232705A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.A133	ENST00000226460.4	37	c.399	CCDS34000.1	4																																																																																			SMR3A	-	NULL	ENSG00000109208		0.478	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	230	0.43	1	A	NM_012390		71232705	71232705	+1	no_errors	ENST00000226460	ensembl	human	known	69_37n	silent	198	14.96	35	SNP	0.014	C
SMYD2	56950	genome.wustl.edu	37	1	214507378	214507378	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:214507378T>G	ENST00000366957.5	+	11	1134				SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Intron	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTCGGCAGGGTGGCAGCATCC	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1113-165T>G	1.37:g.214507378T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	RNA	SNP	-	NULL	ENST00000366957.5	37	NULL	CCDS31022.1	1																																																																																			SMYD2	-	-	ENSG00000143499		0.507	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD2	HGNC	protein_coding	OTTHUMT00000089998.1	36	0.00	0	T	NM_020197		214507378	214507378	+1	no_errors	ENST00000491455	ensembl	human	known	69_37n	rna	41	33.87	21	SNP	0.000	G
SNCAIP	9627	genome.wustl.edu	37	5	121787259	121787259	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:121787259A>C	ENST00000261368.8	+	10	2979	c.2717A>C	c.(2716-2718)aAc>aCc	p.N906T	SNCAIP_ENST00000379533.2_Missense_Mutation_p.N953T|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.N540T|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.N953T|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.N846T|SNCAIP_ENST00000542191.1_Missense_Mutation_p.N464T|SNCAIP_ENST00000414317.2_Missense_Mutation_p.N508T	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	906					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCCAAGGGAAACCCTGCCAGC	0.423																																						dbGAP											0													66.0	76.0	73.0					5																	121787259		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2717A>C	5.37:g.121787259A>C	ENSP00000261368:p.Asn906Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N953T	ENST00000261368.8	37	c.2858	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	A	11.14	1.552397	0.27739	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.15017	4.29;4.84;2.53;2.46;4.84;4.76;2.46;4.51	5.92	0.82	0.18793	.	0.427135	0.29995	N	0.010663	T	0.16385	0.0394	L	0.51422	1.61	0.24055	N	0.996038	P;B;P;B;P;B;B;B	0.42827	0.791;0.006;0.577;0.01;0.767;0.01;0.161;0.1	B;B;B;B;B;B;B;B	0.41510	0.254;0.01;0.154;0.022;0.359;0.022;0.079;0.036	T	0.09509	-1.0671	10	0.87932	D	0	-5.8401	9.4746	0.38864	0.7163:0.0:0.2837:0.0	.	846;534;508;846;540;540;953;906	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	T	464;846;906;953;846;540;953;508	ENSP00000441681:N464T;ENSP00000422106:N846T;ENSP00000261368:N906T;ENSP00000368848:N953T;ENSP00000368851:N846T;ENSP00000368854:N540T;ENSP00000261367:N953T;ENSP00000394392:N508T	ENSP00000261367:N953T	N	+	2	0	SNCAIP	121815158	0.943000	0.32029	0.024000	0.17045	0.653000	0.38743	1.728000	0.38105	0.151000	0.19162	0.459000	0.35465	AAC	SNCAIP	-	NULL	ENSG00000064692		0.423	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	229	0.43	1	A			121787259	121787259	+1	no_errors	ENST00000379533	ensembl	human	known	69_37n	missense	119	24.20	38	SNP	0.615	C
SND1	27044	genome.wustl.edu	37	7	127637937	127637937	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:127637937A>C	ENST00000354725.3	+	16	1973				SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						aaggtgcaccaccttttcttg	0.507																																						dbGAP											0													275.0	238.0	251.0					7																	127637937		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1779+6828A>C	7.37:g.127637937A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13122|Q96AG0	RNA	SNP	-	NULL	ENST00000354725.3	37	NULL	CCDS34747.1	7																																																																																			SND1	-	-	ENSG00000197157		0.507	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	250	0.40	1	A	NM_014390		127637937	127637937	+1	no_errors	ENST00000467238	ensembl	human	known	69_37n	rna	236	12.50	34	SNP	0.000	C
SNHG14	104472715	genome.wustl.edu	37	15	25330338	25330338	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:25330338T>G	ENST00000546682.1	+	0	322				SNORD116-16_ENST00000384533.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTTTCCAGGTGGCGTGGGCA	0.512																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25330338T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.512	SNHG14-022	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000408281.1	51	0.00	0	T			25330338	25330338	+1	no_errors	ENST00000383025	ensembl	human	known	69_37n	rna	38	19.15	9	SNP	0.003	G
SNHG14	104472715	genome.wustl.edu	37	15	25432561	25432561	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:25432561T>G	ENST00000424208.1	+	0	696				SNORD115-10_ENST00000365073.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-9_ENST00000362912.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTCATCCAGGTGCCCAGCCTT	0.607																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25432561T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.607	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	25	0.00	0	T			25432561	25432561	+1	no_errors	ENST00000424208	ensembl	human	known	69_37n	rna	35	27.08	13	SNP	0.000	G
SNHG14	104472715	genome.wustl.edu	37	15	25434416	25434416	+	RNA	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:25434416T>G	ENST00000424208.1	+	0	852				SNORD115-10_ENST00000365073.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTCCCGGGGTGAGTGGTCAT	0.607																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25434416T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.607	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	33	0.00	0	T			25434416	25434416	+1	no_errors	ENST00000424208	ensembl	human	known	69_37n	rna	37	17.78	8	SNP	0.000	G
MAGED2	10916	genome.wustl.edu	37	X	54840930	54840930	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:54840930A>C	ENST00000375068.1	+	11	1504				MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000396224.1_Intron|MAGED2_ENST00000347546.4_Intron|MAGED2_ENST00000218439.4_Intron|MAGED2_ENST00000375060.1_Intron|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Intron|MAGED2_ENST00000375053.2_Intron			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2							membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GTCCCCCAACACCTCTATGTG	0.493																																						dbGAP											0													279.0	248.0	257.0					X																	54840930		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1272-164A>C	X.37:g.54840930A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	RNA	SNP	-	NULL	ENST00000375068.1	37	NULL	CCDS14362.1	X																																																																																			SNORA11	-	-	ENSG00000221716		0.493	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNORA11	HGNC	protein_coding	OTTHUMT00000056821.2	232	0.85	2	A	NM_014599		54840930	54840930	+1	no_errors	ENST00000408789	ensembl	human	known	69_37n	rna	243	11.64	32	SNP	0.000	C
RPS8	6202	genome.wustl.edu	37	1	45242213	45242213	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:45242213A>C	ENST00000396651.3	+	3	271				RPS8_ENST00000485390.1_Intron|SNORD38B_ENST00000384690.1_RNA|SNORD38A_ENST00000365161.1_RNA|SNORD55_ENST00000581525.1_RNA|RPS8_ENST00000372209.3_Intron|SNORD46_ENST00000364043.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGTCTTGGTCACCTGTGTGCC	0.522																																						dbGAP											0													176.0	166.0	169.0					1																	45242213		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.112-134A>C	1.37:g.45242213A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P09058|Q6IRL7	RNA	SNP	-	NULL	ENST00000396651.3	37	NULL	CCDS513.1	1																																																																																			SNORD46	-	-	ENSG00000200913		0.522	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD46	HGNC	protein_coding	OTTHUMT00000023439.1	83	0.00	0	A	NM_001012		45242213	45242213	+1	no_errors	ENST00000364043	ensembl	human	known	69_37n	rna	55	21.43	15	SNP	0.613	C
SNRNP200	23020	genome.wustl.edu	37	2	96968985	96968985	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:96968985A>C	ENST00000323853.5	-	3	370	c.293T>G	c.(292-294)gTg>gGg	p.V98G	SNRNP200_ENST00000349783.5_Missense_Mutation_p.V98G	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	98					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GATGATGCCCACCATCTCATC	0.502																																						dbGAP											0													340.0	334.0	336.0					2																	96968985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.293T>G	2.37:g.96968985A>C	ENSP00000317123:p.Val98Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V98G	ENST00000323853.5	37	c.293	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929276	0.52759	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.42900	0.96;0.96	5.87	5.87	0.94306	.	0.125695	0.52532	D	0.000070	T	0.40719	0.1128	L	0.52206	1.635	0.80722	D	1	B	0.25955	0.138	B	0.25987	0.065	T	0.20107	-1.0285	10	0.41790	T	0.15	-16.7347	15.2631	0.73640	1.0:0.0:0.0:0.0	.	98	O75643	U520_HUMAN	G	98	ENSP00000317123:V98G;ENSP00000326937:V98G	ENSP00000317123:V98G	V	-	2	0	SNRNP200	96332712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.873000	0.92357	2.248000	0.74166	0.533000	0.62120	GTG	SNRNP200	-	NULL	ENSG00000144028		0.502	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	271	0.00	0	A	NM_014014		96968985	96968985	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	318	14.02	52	SNP	1.000	C
SNTB2	6645	genome.wustl.edu	37	16	69304156	69304156	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:69304156A>C	ENST00000336278.4	+	4	1154	c.1116A>C	c.(1114-1116)tcA>tcC	p.S372S		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	372	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CCTGGGCGTCACCATGCCACA	0.438																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	dbGAP											0													115.0	107.0	110.0					16																	69304156		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1116A>C	16.37:g.69304156A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BY09	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S372	ENST00000336278.4	37	c.1116	CCDS10873.1	16																																																																																			SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.438	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	133	0.00	0	A			69304156	69304156	+1	no_errors	ENST00000336278	ensembl	human	known	69_37n	silent	102	19.69	25	SNP	0.262	C
SNW1	22938	genome.wustl.edu	37	14	78184742	78184742	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:78184742A>C	ENST00000261531.7	-	13	1442	c.1380T>G	c.(1378-1380)ggT>ggG	p.G460G	SNW1_ENST00000554775.1_Silent_p.G298G|SNW1_ENST00000555761.1_Silent_p.G460G|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	460					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTAGGTCATCACCATACATGT	0.383																																						dbGAP											0													133.0	129.0	130.0					14																	78184742		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1380T>G	14.37:g.78184742A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.G460	ENST00000261531.7	37	c.1380	CCDS9867.1	14																																																																																			SNW1	-	NULL	ENSG00000100603		0.383	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	323	0.00	0	A	NM_012245		78184742	78184742	-1	no_errors	ENST00000261531	ensembl	human	known	69_37n	silent	181	12.08	25	SNP	0.905	C
SNW1	22938	genome.wustl.edu	37	14	78184850	78184850	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:78184850A>C	ENST00000261531.7	-	13	1334	c.1272T>G	c.(1270-1272)ggT>ggG	p.G424G	SNW1_ENST00000554775.1_Silent_p.G262G|SNW1_ENST00000555761.1_Silent_p.G424G|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	424					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CATCTTCTCCACCTGCAAATC	0.358																																						dbGAP											0													65.0	60.0	62.0					14																	78184850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1272T>G	14.37:g.78184850A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.G424	ENST00000261531.7	37	c.1272	CCDS9867.1	14																																																																																			SNW1	-	NULL	ENSG00000100603		0.358	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	214	0.93	2	A	NM_012245		78184850	78184850	-1	no_errors	ENST00000261531	ensembl	human	known	69_37n	silent	100	21.88	28	SNP	0.844	C
SNX19	399979	genome.wustl.edu	37	11	130750654	130750654	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:130750654A>C	ENST00000265909.4	-	9	3190	c.2621T>G	c.(2620-2622)gTg>gGg	p.V874G	SNX19_ENST00000534726.1_Missense_Mutation_p.V114G|SNX19_ENST00000528555.1_Missense_Mutation_p.V254G|SNX19_ENST00000539184.1_Missense_Mutation_p.V317G|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.V114G|SNX19_ENST00000426933.2_Missense_Mutation_p.V42G|SNX19_ENST00000530356.1_Missense_Mutation_p.V254G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	874					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GAGGTACTGCACCCAGCGCTG	0.507																																						dbGAP											0													75.0	80.0	78.0					11																	130750654		2201	4297	6498	-	-	-	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2621T>G	11.37:g.130750654A>C	ENSP00000265909:p.Val874Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.V874G	ENST00000265909.4	37	c.2621	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449518	0.84101	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.97	4.85	0.62838	Sorting nexin, C-terminal (1);	0.250581	0.39834	N	0.001246	T	0.45955	0.1368	M	0.63843	1.955	0.58432	D	0.999998	P;D	0.57899	0.892;0.981	P;P	0.57620	0.545;0.824	T	0.44922	-0.9296	10	0.87932	D	0	-11.418	11.2693	0.49129	0.928:0.0:0.072:0.0	.	317;874	F5H5D1;Q92543	.;SNX19_HUMAN	G	874;114;114;42;254;254;317	ENSP00000265909:V874G;ENSP00000433699:V114G;ENSP00000437982:V114G;ENSP00000413345:V42G;ENSP00000435122:V254G;ENSP00000432307:V254G;ENSP00000443480:V317G	ENSP00000265909:V874G	V	-	2	0	SNX19	130255864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	1.099000	0.41499	0.533000	0.62120	GTG	SNX19	-	pfam_Sorting_nexin_C	ENSG00000120451		0.507	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	279	0.35	1	A	NM_014758		130750654	130750654	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	missense	168	18.45	38	SNP	1.000	C
SNX19	399979	genome.wustl.edu	37	11	130750684	130750684	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:130750684A>C	ENST00000265909.4	-	9	3160	c.2591T>G	c.(2590-2592)gTa>gGa	p.V864G	SNX19_ENST00000534726.1_Missense_Mutation_p.V104G|SNX19_ENST00000528555.1_Missense_Mutation_p.V244G|SNX19_ENST00000539184.1_Missense_Mutation_p.V307G|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.V104G|SNX19_ENST00000426933.2_Missense_Mutation_p.V32G|SNX19_ENST00000530356.1_Missense_Mutation_p.V244G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	864					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TAAATTAGCTACCTGCACCTC	0.502																																						dbGAP											0													65.0	70.0	68.0					11																	130750684		2201	4297	6498	-	-	-	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2591T>G	11.37:g.130750684A>C	ENSP00000265909:p.Val864Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.V864G	ENST00000265909.4	37	c.2591	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810424	0.70797	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.86	5.86	0.93980	Sorting nexin, C-terminal (1);	0.186428	0.46442	D	0.000292	T	0.58878	0.2153	M	0.75264	2.295	0.80722	D	1	P;D	0.56746	0.943;0.977	P;P	0.61722	0.777;0.893	T	0.63242	-0.6681	10	0.87932	D	0	-13.705	16.2541	0.82503	1.0:0.0:0.0:0.0	.	307;864	F5H5D1;Q92543	.;SNX19_HUMAN	G	864;104;104;32;244;244;307	ENSP00000265909:V864G;ENSP00000433699:V104G;ENSP00000437982:V104G;ENSP00000413345:V32G;ENSP00000435122:V244G;ENSP00000432307:V244G;ENSP00000443480:V307G	ENSP00000265909:V864G	V	-	2	0	SNX19	130255894	1.000000	0.71417	0.922000	0.36590	0.688000	0.40055	7.429000	0.80309	2.244000	0.73946	0.533000	0.62120	GTA	SNX19	-	pfam_Sorting_nexin_C	ENSG00000120451		0.502	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	287	0.00	0	A	NM_014758		130750684	130750684	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	missense	164	14.87	29	SNP	0.994	C
SNX19	399979	genome.wustl.edu	37	11	130750690	130750690	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:130750690A>C	ENST00000265909.4	-	9	3154	c.2585T>G	c.(2584-2586)gTg>gGg	p.V862G	SNX19_ENST00000534726.1_Missense_Mutation_p.V102G|SNX19_ENST00000528555.1_Missense_Mutation_p.V242G|SNX19_ENST00000539184.1_Missense_Mutation_p.V305G|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.V102G|SNX19_ENST00000426933.2_Missense_Mutation_p.V30G|SNX19_ENST00000530356.1_Missense_Mutation_p.V242G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	862					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGCTACCTGCACCTCTAGCCA	0.498																																						dbGAP											0													62.0	67.0	66.0					11																	130750690		2201	4297	6498	-	-	-	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2585T>G	11.37:g.130750690A>C	ENSP00000265909:p.Val862Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.V862G	ENST00000265909.4	37	c.2585	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897727	0.72639	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.86	5.86	0.93980	Sorting nexin, C-terminal (1);	0.185708	0.46758	D	0.000261	T	0.53997	0.1831	M	0.71581	2.175	0.80722	D	1	D;D	0.56746	0.976;0.977	P;D	0.64506	0.707;0.926	T	0.54057	-0.8350	10	0.49607	T	0.09	-11.4941	16.2541	0.82503	1.0:0.0:0.0:0.0	.	305;862	F5H5D1;Q92543	.;SNX19_HUMAN	G	862;102;102;30;242;242;305	ENSP00000265909:V862G;ENSP00000433699:V102G;ENSP00000437982:V102G;ENSP00000413345:V30G;ENSP00000435122:V242G;ENSP00000432307:V242G;ENSP00000443480:V305G	ENSP00000265909:V862G	V	-	2	0	SNX19	130255900	1.000000	0.71417	0.952000	0.39060	0.686000	0.39977	7.429000	0.80309	2.244000	0.73946	0.533000	0.62120	GTG	SNX19	-	pfam_Sorting_nexin_C	ENSG00000120451		0.498	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	282	0.00	0	A	NM_014758		130750690	130750690	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	missense	157	15.34	29	SNP	0.998	C
SNX19	399979	genome.wustl.edu	37	11	130784186	130784186	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:130784186T>G	ENST00000265909.4	-	1	2218	c.1649A>C	c.(1648-1650)cAc>cCc	p.H550P	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H550P|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	550	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGTGTATGGGTGGAATCCAGT	0.507																																						dbGAP											0													80.0	68.0	72.0					11																	130784186		2201	4297	6498	-	-	-	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1649A>C	11.37:g.130784186T>G	ENSP00000265909:p.His550Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.H550P	ENST00000265909.4	37	c.1649	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236696	0.79800	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.29655	1.56;1.56	5.85	5.85	0.93711	Phox homologous domain (5);	0.269015	0.47852	D	0.000202	T	0.48187	0.1486	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.43180	-0.9407	10	0.54805	T	0.06	-20.4378	16.2421	0.82418	0.0:0.0:0.0:1.0	.	550;550	E9PKB9;Q92543	.;SNX19_HUMAN	P	550	ENSP00000265909:H550P;ENSP00000435390:H550P	ENSP00000265909:H550P	H	-	2	0	SNX19	130289396	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.611000	0.82962	2.234000	0.73211	0.533000	0.62120	CAC	SNX19	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000120451		0.507	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	55	0.00	0	T	NM_014758		130784186	130784186	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	missense	33	19.05	8	SNP	1.000	G
SNX22	79856	genome.wustl.edu	37	15	64446679	64446679	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:64446679A>C	ENST00000325881.4	+	7	613	c.554A>C	c.(553-555)cAc>cCc	p.H185P	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	185					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						GCGGCCTGTCACCCTGCTCCT	0.577																																						dbGAP											0													129.0	124.0	126.0					15																	64446679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.554A>C	15.37:g.64446679A>C	ENSP00000323435:p.His185Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUS9|Q9H844	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.H185P	ENST00000325881.4	37	c.554	CCDS10190.1	15	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474664	0.43942	.	.	ENSG00000157734	ENST00000325881	T	0.77620	-1.11	5.23	2.72	0.32119	.	1.214530	0.05512	N	0.560490	T	0.67841	0.2936	L	0.51422	1.61	0.09310	N	1	P	0.36438	0.553	B	0.25884	0.064	T	0.55749	-0.8092	10	0.36615	T	0.2	-30.6666	5.7928	0.18369	0.6596:0.1737:0.0:0.1667	.	185	Q96L94	SNX22_HUMAN	P	185	ENSP00000323435:H185P	ENSP00000323435:H185P	H	+	2	0	SNX22	62233732	0.000000	0.05858	0.103000	0.21229	0.726000	0.41606	0.059000	0.14322	0.801000	0.34066	0.402000	0.26972	CAC	SNX22	-	NULL	ENSG00000157734		0.577	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX22	HGNC	protein_coding	OTTHUMT00000256524.2	123	0.00	0	A	NM_024798		64446679	64446679	+1	no_errors	ENST00000325881	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.006	C
SOAT2	8435	genome.wustl.edu	37	12	53499767	53499767	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53499767A>C	ENST00000301466.3	+	5	472	c.412A>C	c.(412-414)Acc>Ccc	p.T138P		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	138					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CATCATCAGCACCCTGGCCAT	0.577																																						dbGAP											0													166.0	106.0	127.0					12																	53499767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.412A>C	12.37:g.53499767A>C	ENSP00000301466:p.Thr138Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.T138P	ENST00000301466.3	37	c.412	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970495	0.74246	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.19806	2.12;2.12	5.49	1.7	0.24286	.	0.156989	0.56097	D	0.000036	T	0.28995	0.0720	M	0.84585	2.705	0.58432	D	0.99999	P	0.47409	0.895	P	0.46659	0.523	T	0.04294	-1.0962	10	0.56958	D	0.05	-18.9697	4.3064	0.10949	0.6371:0.0:0.2192:0.1437	.	138	O75908	SOAT2_HUMAN	P	118;138	ENSP00000450120:T118P;ENSP00000301466:T138P	ENSP00000301466:T138P	T	+	1	0	SOAT2	51786034	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.105000	0.57797	0.416000	0.25844	0.533000	0.62120	ACC	SOAT2	-	NULL	ENSG00000167780		0.577	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	52	0.00	0	A			53499767	53499767	+1	no_errors	ENST00000301466	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	C
SOHLH2	54937	genome.wustl.edu	37	13	36744811	36744811	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:36744811T>G	ENST00000379881.3	-	10	1202	c.1114A>C	c.(1114-1116)Acc>Ccc	p.T372P	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T449P|SOHLH2_ENST00000554962.1_Missense_Mutation_p.T449P	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	372					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TAGGAAGGGGTGACTTTAGAA	0.453																																						dbGAP											0													165.0	153.0	157.0					13																	36744811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1114A>C	13.37:g.36744811T>G	ENSP00000369210:p.Thr372Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T449P	ENST00000379881.3	37	c.1345	CCDS9355.1	13	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283825	0.23392	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.31510	1.49;1.49;1.49	5.14	-1.39	0.08997	.	1.200640	0.05954	N	0.639449	T	0.22126	0.0533	N	0.22421	0.69	0.09310	N	1	B;B	0.30361	0.277;0.277	B;B	0.25759	0.063;0.044	T	0.28870	-1.0030	10	0.54805	T	0.06	.	12.4688	0.55775	0.0:0.759:0.0:0.241	.	449;372	B4DX90;Q9NX45	.;SOLH2_HUMAN	P	372;449;449	ENSP00000369210:T372P;ENSP00000451542:T449P;ENSP00000421868:T449P	ENSP00000421868:T449P	T	-	1	0	CCDC169-SOHLH2;SOHLH2	35642811	0.009000	0.17119	0.002000	0.10522	0.012000	0.07955	-0.194000	0.09559	-0.734000	0.04843	0.533000	0.62120	ACC	SOHLH2	-	NULL	ENSG00000120669		0.453	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	197	0.51	1	T	NM_017826		36744811	36744811	-1	no_errors	ENST00000554962	ensembl	human	known	69_37n	missense	142	14.97	25	SNP	0.001	G
SORL1	6653	genome.wustl.edu	37	11	121477606	121477606	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:121477606T>G	ENST00000260197.7	+	36	5130	c.5001T>G	c.(4999-5001)ggT>ggG	p.G1667G	SORL1_ENST00000532694.1_Silent_p.G513G|SORL1_ENST00000527934.1_Silent_p.G282G|SORL1_ENST00000525532.1_Silent_p.G611G|SORL1_ENST00000534286.1_Silent_p.G577G	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1667	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AAGCAGAAGGTGTGATTGTAG	0.522																																						dbGAP											0													158.0	133.0	141.0					11																	121477606		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	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.5001T>G	11.37:g.121477606T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX7|Q92856	Silent	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.G1667	ENST00000260197.7	37	c.5001	CCDS8436.1	11																																																																																			SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	216	0.92	2	T	NM_003105		121477606	121477606	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	silent	124	17.76	27	SNP	0.705	G
SORL1	6653	genome.wustl.edu	37	11	121477640	121477640	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:121477640A>C	ENST00000260197.7	+	36	5164	c.5035A>C	c.(5035-5037)Acc>Ccc	p.T1679P	SORL1_ENST00000532694.1_Missense_Mutation_p.T525P|SORL1_ENST00000527934.1_Missense_Mutation_p.T294P|SORL1_ENST00000525532.1_Missense_Mutation_p.T623P|SORL1_ENST00000534286.1_Missense_Mutation_p.T589P	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1679	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCCCATCCACACCCATGGCCT	0.522																																						dbGAP											0													141.0	112.0	122.0					11																	121477640		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.5035A>C	11.37:g.121477640A>C	ENSP00000260197:p.Thr1679Pro	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.T1679P	ENST00000260197.7	37	c.5035	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637934	0.29157	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.77	-2.23	0.06930	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.319059	0.32301	N	0.006289	T	0.33876	0.0878	N	0.17278	0.47	0.24328	N	0.995018	B;D	0.54397	0.0;0.966	B;P	0.57679	0.003;0.825	T	0.48864	-0.8997	10	0.02654	T	1	.	1.9667	0.03397	0.2162:0.2895:0.3528:0.1416	.	294;1679	E9PKB0;Q92673	.;SORL_HUMAN	P	1679;623;525;589;294	ENSP00000260197:T1679P;ENSP00000434634:T623P;ENSP00000432131:T525P;ENSP00000436447:T589P;ENSP00000435405:T294P	ENSP00000260197:T1679P	T	+	1	0	SORL1	120982850	0.000000	0.05858	0.176000	0.23000	0.990000	0.78478	-0.066000	0.11598	-0.413000	0.07507	0.459000	0.35465	ACC	SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	180	0.00	0	A	NM_003105		121477640	121477640	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	0.508	C
SORT1	6272	genome.wustl.edu	37	1	109878924	109878924	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109878924A>C	ENST00000256637.6	-	11	1367	c.1309T>G	c.(1309-1311)Tgg>Ggg	p.W437G	SORT1_ENST00000538502.1_Missense_Mutation_p.W300G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	437					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGGTGCGTCCACCTTCCTCCT	0.423																																						dbGAP											0													203.0	170.0	181.0					1																	109878924		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1309T>G	1.37:g.109878924A>C	ENSP00000256637:p.Trp437Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.W437G	ENST00000256637.6	37	c.1309	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321514	0.81580	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.70045	-0.45;-0.45	5.69	5.69	0.88448	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84347	0.0530	10	0.87932	D	0	-8.2883	14.9276	0.70890	1.0:0.0:0.0:0.0	.	300;437	B4DWI3;Q99523	.;SORT_HUMAN	G	437;300	ENSP00000256637:W437G;ENSP00000438597:W300G	ENSP00000256637:W437G	W	-	1	0	SORT1	109680447	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.979000	0.93455	2.158000	0.67659	0.533000	0.62120	TGG	SORT1	-	smart_VPS10	ENSG00000134243		0.423	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	120	0.00	0	A	NM_002959		109878924	109878924	-1	no_errors	ENST00000256637	ensembl	human	known	69_37n	missense	124	14.38	21	SNP	1.000	C
SOS1	6654	genome.wustl.edu	37	2	39262410	39262410	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:39262410T>G	ENST00000426016.1	-	9	1103	c.1017A>C	c.(1015-1017)ttA>ttC	p.L339F	SOS1_ENST00000402219.2_Missense_Mutation_p.L339F|SOS1_ENST00000395038.2_Missense_Mutation_p.L339F|SOS1_ENST00000428721.2_Missense_Mutation_p.L282F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	339	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCAGCCTGGGTAAAACATATT	0.328									Noonan syndrome																													dbGAP											0													59.0	63.0	62.0					2																	39262410		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1017A>C	2.37:g.39262410T>G	ENSP00000387784:p.Leu339Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L339F	ENST00000426016.1	37	c.1017	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679460	0.68042	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	6.01	-0.744	0.11101	Dbl homology (DH) domain (5);	0.147419	0.46145	D	0.000314	D	0.97823	0.9285	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96428	0.9317	10	0.54805	T	0.06	.	10.1519	0.42799	0.0:0.4269:0.0:0.5731	.	71;339	F5GX06;Q07889	.;SOS1_HUMAN	F	339;339;71;339;339;282	ENSP00000387784:L339F;ENSP00000384675:L339F;ENSP00000378479:L339F;ENSP00000399992:L282F	ENSP00000263879:L339F	L	-	3	2	SOS1	39115914	0.347000	0.24853	0.994000	0.49952	0.960000	0.62799	-0.490000	0.06482	-0.118000	0.11851	-0.417000	0.06048	TTA	SOS1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000115904		0.328	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	95	0.00	0	T	NM_005633		39262410	39262410	-1	no_errors	ENST00000402219	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	0.991	G
SOX5	6660	genome.wustl.edu	37	12	24048881	24048881	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:24048881A>C	ENST00000451604.2	-	2	217	c.116T>G	c.(115-117)gTg>gGg	p.V39G	SOX5_ENST00000537393.1_Missense_Mutation_p.V39G|SOX5_ENST00000441133.2_Missense_Mutation_p.V39G|SOX5_ENST00000541536.1_Missense_Mutation_p.V26G|SOX5_ENST00000545921.1_Missense_Mutation_p.V29G|SOX5_ENST00000309359.1_Missense_Mutation_p.V26G|SOX5_ENST00000541847.1_Missense_Mutation_p.V29G|SOX5_ENST00000546136.1_Missense_Mutation_p.V26G|SOX5_ENST00000381381.2_Missense_Mutation_p.V26G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	39					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTCTTCTTCCACTTTCTGTCT	0.517																																						dbGAP											0													235.0	222.0	226.0					12																	24048881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.116T>G	12.37:g.24048881A>C	ENSP00000398273:p.Val39Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V39G	ENST00000451604.2	37	c.116	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726396	0.48833	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97279	-4.29;-4.29;-4.32;-4.3;-4.3;-4.32;-4.3	6.01	6.01	0.97437	.	0.066417	0.64402	D	0.000011	D	0.95220	0.8450	L	0.53249	1.67	0.80722	D	1	P;B;B;B	0.37015	0.578;0.068;0.435;0.251	B;B;B;B	0.35688	0.208;0.054;0.208;0.084	D	0.94350	0.7578	10	0.25106	T	0.35	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	39;39;26;39	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	G	26;26;26;39;26;39;26;29;29;39;26	ENSP00000437487:V26G;ENSP00000308927:V26G;ENSP00000370788:V26G;ENSP00000398273:V39G;ENSP00000439832:V39G;ENSP00000441973:V26G;ENSP00000443520:V29G	ENSP00000308927:V26G	V	-	2	0	SOX5	23940148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.581000	0.90788	2.307000	0.77673	0.528000	0.53228	GTG	SOX5	-	NULL	ENSG00000134532		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	288	0.34	1	A	NM_006940		24048881	24048881	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	missense	186	10.38	22	SNP	1.000	C
PINX1	54984	genome.wustl.edu	37	8	10692268	10692268	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:10692268A>C	ENST00000314787.3	-	2	156	c.37T>G	c.(37-39)Tgg>Ggg	p.W13G	PINX1_ENST00000520018.2_5'UTR|PINX1_ENST00000519088.1_Missense_Mutation_p.W13G|SOX7_ENST00000553390.1_Missense_Mutation_p.W13G|PINX1_ENST00000426190.2_Missense_Mutation_p.W11G|SOX7_ENST00000554914.1_Missense_Mutation_p.W13G	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	13					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCCACAGCCCACTTCTGCTTC	0.458																																						dbGAP											0													71.0	66.0	67.0					8																	10692268		1959	4153	6112	-	-	-	SO:0001583	missense	0			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.37T>G	8.37:g.10692268A>C	ENSP00000318966:p.Trp13Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily	p.W13G	ENST00000314787.3	37	c.37	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305164	0.81247	.	.	ENSG00000171056;ENSG00000258724;ENSG00000254093;ENSG00000254093;ENSG00000254093;ENSG00000254093;ENSG00000254093	ENST00000553390;ENST00000554914;ENST00000314787;ENST00000426190;ENST00000519088;ENST00000524114;ENST00000520018	D;D;T	0.99429	-5.89;-5.89;2.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.982	D	0.99107	1.0845	10	0.87932	D	0	.	14.0659	0.64828	1.0:0.0:0.0:0.0	.	13;13;13	B4DKV0;Q96BK5-2;Q96BK5	.;.;PINX1_HUMAN	G	13;13;13;11;13;23;13	ENSP00000452017:W13G;ENSP00000451145:W13G;ENSP00000318966:W13G	ENSP00000318966:W13G	W	-	1	0	SOX7;CTD-2135J3.4;PINX1	10729678	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.904000	0.92590	2.220000	0.72140	0.533000	0.62120	TGG	SOX7	-	NULL	ENSG00000171056		0.458	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000375683.1	141	0.00	0	A	NM_017884		10692268	10692268	-1	no_errors	ENST00000553390	ensembl	human	known	69_37n	missense	157	13.74	25	SNP	1.000	C
SP1	6667	genome.wustl.edu	37	12	53804902	53804902	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53804902A>C	ENST00000327443.4	+	6	2334	c.2236A>C	c.(2236-2238)Acc>Ccc	p.T746P	SP1_ENST00000426431.2_Missense_Mutation_p.T739P	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	746	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCTTATTACCACCAATATGGT	0.572																																						dbGAP											0													108.0	93.0	98.0					12																	53804902		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2236A>C	12.37:g.53804902A>C	ENSP00000329357:p.Thr746Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T746P	ENST00000327443.4	37	c.2236	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676685	0.67928	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08720	3.09;3.06	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000018	T	0.16599	0.0399	N	0.24115	0.695	0.58432	D	0.999999	D	0.71674	0.998	D	0.73708	0.981	T	0.02352	-1.1172	10	0.66056	D	0.02	.	14.2115	0.65767	1.0:0.0:0.0:0.0	.	746	P08047	SP1_HUMAN	P	746;739	ENSP00000329357:T746P;ENSP00000404263:T739P	ENSP00000329357:T746P	T	+	1	0	SP1	52091169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.717000	0.47227	2.254000	0.74563	0.460000	0.39030	ACC	SP1	-	NULL	ENSG00000185591		0.572	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	145	0.68	1	A			53804902	53804902	+1	no_errors	ENST00000327443	ensembl	human	known	69_37n	missense	147	13.37	23	SNP	1.000	C
SP2	6668	genome.wustl.edu	37	17	45993626	45993626	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45993626A>C	ENST00000376741.4	+	3	326	c.189A>C	c.(187-189)acA>acC	p.T63T	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	63					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CACAGCCCACACCGCGGAAAC	0.542																																						dbGAP											0													120.0	125.0	124.0					17																	45993626		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.189A>C	17.37:g.45993626A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK74	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T63	ENST00000376741.4	37	c.189	CCDS11521.2	17																																																																																			SP2	-	NULL	ENSG00000167182		0.542	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	546	0.90	5	A	NM_003110		45993626	45993626	+1	no_errors	ENST00000376741	ensembl	human	known	69_37n	silent	383	15.42	70	SNP	0.873	C
SP2	6668	genome.wustl.edu	37	17	45994011	45994011	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45994011A>C	ENST00000376741.4	+	3	711	c.574A>C	c.(574-576)Acc>Ccc	p.T192P	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	192					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TACGACCACCACCCCCGTGCA	0.617																																						dbGAP											0													103.0	76.0	85.0					17																	45994011		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.574A>C	17.37:g.45994011A>C	ENSP00000365931:p.Thr192Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T192P	ENST00000376741.4	37	c.574	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507619	0.27036	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.09163	3.01	4.97	4.97	0.65823	.	0.119371	0.38058	N	0.001840	T	0.10937	0.0267	L	0.46157	1.445	0.20196	N	0.999924	B	0.32693	0.38	B	0.32533	0.147	T	0.17745	-1.0359	10	0.49607	T	0.09	.	9.8486	0.41043	0.8465:0.0:0.0:0.1535	.	192	Q02086	SP2_HUMAN	P	192;185	ENSP00000365931:T192P	ENSP00000316942:T185P	T	+	1	0	SP2	43349010	0.003000	0.15002	1.000000	0.80357	0.914000	0.54420	0.098000	0.15189	2.229000	0.72834	0.383000	0.25322	ACC	SP2	-	NULL	ENSG00000167182		0.617	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	231	0.43	1	A	NM_003110		45994011	45994011	+1	no_errors	ENST00000376741	ensembl	human	known	69_37n	missense	142	21.86	40	SNP	0.367	C
SP2	6668	genome.wustl.edu	37	17	45994052	45994052	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45994052T>G	ENST00000376741.4	+	3	752	c.615T>G	c.(613-615)ggT>ggG	p.G205G	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	205					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AGCTGACAGGTGGGGGCGGCA	0.632																																						dbGAP											0													82.0	71.0	75.0					17																	45994052		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.615T>G	17.37:g.45994052T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK74	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G205	ENST00000376741.4	37	c.615	CCDS11521.2	17																																																																																			SP2	-	NULL	ENSG00000167182		0.632	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	245	0.40	1	T	NM_003110		45994052	45994052	+1	no_errors	ENST00000376741	ensembl	human	known	69_37n	silent	147	12.50	21	SNP	1.000	G
SP2	6668	genome.wustl.edu	37	17	45994345	45994345	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:45994345T>G	ENST00000376741.4	+	3	1045	c.908T>G	c.(907-909)gTg>gGg	p.V303G	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	303					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAGGTCCAGGTGGTGCCCCCC	0.647																																						dbGAP											0													45.0	48.0	47.0					17																	45994345		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.908T>G	17.37:g.45994345T>G	ENSP00000365931:p.Val303Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V303G	ENST00000376741.4	37	c.908	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778692	0.70107	.	.	ENSG00000167182	ENST00000376741	T	0.11604	2.76	5.39	5.39	0.77823	.	0.075462	0.53938	D	0.000045	T	0.22551	0.0544	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.00283	-1.1849	10	0.49607	T	0.09	.	14.5302	0.67920	0.0:0.0:0.0:1.0	.	303	Q02086	SP2_HUMAN	G	303	ENSP00000365931:V303G	ENSP00000365931:V303G	V	+	2	0	SP2	43349344	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.732000	0.68563	2.267000	0.75376	0.383000	0.25322	GTG	SP2	-	NULL	ENSG00000167182		0.647	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	129	0.00	0	T	NM_003110		45994345	45994345	+1	no_errors	ENST00000376741	ensembl	human	known	69_37n	missense	89	12.75	13	SNP	1.000	G
SP7	121340	genome.wustl.edu	37	12	53722973	53722973	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:53722973T>G	ENST00000536324.2	-	3	536	c.253A>C	c.(253-255)Acc>Ccc	p.T85P	SP7_ENST00000537210.2_Missense_Mutation_p.T67P|SP7_ENST00000303846.3_Missense_Mutation_p.T85P	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	85					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TAGCCTGAGGTGGGTGCTGGA	0.577																																						dbGAP											0													181.0	184.0	183.0					12																	53722973		2010	4168	6178	-	-	-	SO:0001583	missense	0			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.253A>C	12.37:g.53722973T>G	ENSP00000443827:p.Thr85Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T85P	ENST00000536324.2	37	c.253	CCDS44897.1	12	.	.	.	.	.	.	.	.	.	.	T	9.823	1.186317	0.21870	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.49432	3.06;3.06;3.14;0.78	3.85	-1.29	0.09288	.	0.337816	0.26836	N	0.022243	T	0.19087	0.0458	N	0.03608	-0.345	0.28642	N	0.907117	B	0.28552	0.215	B	0.22880	0.042	T	0.12344	-1.0551	10	0.48119	T	0.1	.	7.939	0.29946	0.0:0.4199:0.0:0.5801	.	85	Q8TDD2	SP7_HUMAN	P	85;85;67;67	ENSP00000443827:T85P;ENSP00000302812:T85P;ENSP00000441367:T67P;ENSP00000449355:T67P	ENSP00000302812:T85P	T	-	1	0	SP7	52009240	0.899000	0.30636	0.665000	0.29768	0.808000	0.45660	0.348000	0.20031	-0.224000	0.09928	0.260000	0.18958	ACC	SP7	-	NULL	ENSG00000170374		0.577	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	135	0.73	1	T			53722973	53722973	-1	no_errors	ENST00000303846	ensembl	human	known	69_37n	missense	88	18.52	20	SNP	0.982	G
SPAG16	79582	genome.wustl.edu	37	2	214794711	214794711	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:214794711T>G	ENST00000331683.5	+	12	1337	c.1242T>G	c.(1240-1242)ggT>ggG	p.G414G	SPAG16_ENST00000374309.3_Silent_p.G320G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	414					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTCAAGTGGTGACACTACAG	0.398																																						dbGAP											0													110.0	109.0	109.0					2																	214794711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1242T>G	2.37:g.214794711T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G414	ENST00000331683.5	37	c.1242	CCDS2396.1	2																																																																																			SPAG16	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000144451		0.398	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	136	0.00	0	T	NM_024532		214794711	214794711	+1	no_errors	ENST00000331683	ensembl	human	known	69_37n	silent	58	22.67	17	SNP	0.996	G
SPAG9	9043	genome.wustl.edu	37	17	49057223	49057223	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:49057223A>C	ENST00000262013.7	-	26	3501	c.3293T>G	c.(3292-3294)gTg>gGg	p.V1098G	SPAG9_ENST00000510283.1_Missense_Mutation_p.V941G|SPAG9_ENST00000505279.1_Missense_Mutation_p.V1088G|SPAG9_ENST00000357122.4_Missense_Mutation_p.V1084G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1098					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCCATCCCCCACCCACGCAAG	0.473																																						dbGAP											0													184.0	149.0	161.0					17																	49057223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3293T>G	17.37:g.49057223A>C	ENSP00000262013:p.Val1098Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.V1098G	ENST00000262013.7	37	c.3293	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316208	0.60524	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.175074	0.49916	D	0.000139	T	0.37128	0.0992	L	0.43152	1.355	0.80722	D	1	B;B;B;P	0.39940	0.041;0.024;0.38;0.696	B;B;B;B	0.42030	0.037;0.027;0.283;0.373	T	0.11227	-1.0596	10	0.41790	T	0.15	-13.9642	16.0314	0.80579	1.0:0.0:0.0:0.0	.	1088;1098;1084;941	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	G	1098;855;845;941;1088;1084;696	ENSP00000262013:V1098G;ENSP00000423165:V941G;ENSP00000426900:V1088G;ENSP00000349636:V1084G	ENSP00000262013:V1098G	V	-	2	0	SPAG9	46412222	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.416000	0.52707	2.193000	0.70182	0.402000	0.26972	GTG	SPAG9	-	superfamily_WD40_repeat_dom	ENSG00000008294		0.473	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	167	0.00	0	A	NM_003971		49057223	49057223	-1	no_errors	ENST00000262013	ensembl	human	known	69_37n	missense	183	18.58	42	SNP	1.000	C
SPARCL1	8404	genome.wustl.edu	37	4	88415325	88415325	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:88415325A>C	ENST00000282470.6	-	4	1097	c.627T>G	c.(625-627)ggT>ggG	p.G209G	SPARCL1_ENST00000503414.1_Silent_p.G84G|SPARCL1_ENST00000418378.1_Silent_p.G209G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	209					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TACCAACTTCACCTGGCTCTT	0.443																																						dbGAP											0													309.0	320.0	316.0					4																	88415325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.627T>G	4.37:g.88415325A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Z0|E7ESU2|Q14800	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.G209	ENST00000282470.6	37	c.627	CCDS3622.1	4																																																																																			SPARCL1	-	pirsf_SPARC-like_p1	ENSG00000152583		0.443	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	511	0.00	0	A			88415325	88415325	-1	no_errors	ENST00000282470	ensembl	human	known	69_37n	silent	476	11.99	65	SNP	0.000	C
SPATA16	83893	genome.wustl.edu	37	3	172694806	172694806	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:172694806A>C	ENST00000351008.3	-	5	1068	c.885T>G	c.(883-885)ggT>ggG	p.G295G	snoU13_ENST00000459193.1_RNA	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CCCTTCCTCCACCAAGCCAGA	0.398																																						dbGAP											0													139.0	131.0	134.0					3																	172694806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.885T>G	3.37:g.172694806A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	NULL	p.G295	ENST00000351008.3	37	c.885	CCDS3221.1	3																																																																																			SPATA16	-	NULL	ENSG00000144962		0.398	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	221	0.45	1	A	NM_031955		172694806	172694806	-1	no_errors	ENST00000351008	ensembl	human	known	69_37n	silent	205	12.77	30	SNP	0.212	C
SPATA7	55812	genome.wustl.edu	37	14	88892835	88892835	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:88892835A>C	ENST00000393545.4	+	6	921	c.632A>C	c.(631-633)cAc>cCc	p.H211P	SPATA7_ENST00000045347.7_Missense_Mutation_p.H211P|SPATA7_ENST00000356583.5_Missense_Mutation_p.H179P|SPATA7_ENST00000556553.1_Missense_Mutation_p.H179P	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	211					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCAAATTCCCACCGGTTTCAG	0.507																																						dbGAP											0													63.0	63.0	63.0					14																	88892835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.632A>C	14.37:g.88892835A>C	ENSP00000377176:p.His211Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.H211P	ENST00000393545.4	37	c.632	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931494	0.52866	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.34	1.66	0.24008	.	0.780131	0.12346	N	0.477067	T	0.25232	0.0613	L	0.57536	1.79	0.09310	N	1	D;P;D	0.59767	0.958;0.799;0.986	P;P;P	0.51135	0.66;0.466;0.656	T	0.11179	-1.0598	10	0.40728	T	0.16	-1.7425	3.684	0.08321	0.6016:0.0:0.2428:0.1555	.	179;179;211	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	P	179;211;179;197;211	ENSP00000451128:H179P;ENSP00000377176:H211P;ENSP00000348991:H179P;ENSP00000450606:H197P;ENSP00000045347:H211P	ENSP00000045347:H211P	H	+	2	0	SPATA7	87962588	0.020000	0.18652	0.115000	0.21578	0.952000	0.60782	1.571000	0.36450	0.398000	0.25338	0.528000	0.53228	CAC	SPATA7	-	NULL	ENSG00000042317		0.507	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1	157	0.00	0	A			88892835	88892835	+1	no_errors	ENST00000393545	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	0.010	C
SPDYC	387778	genome.wustl.edu	37	11	64940421	64940421	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:64940421T>G	ENST00000377185.2	+	6	865	c.783T>G	c.(781-783)ggT>ggG	p.G261G	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACGCCTGGGGTGGGGACTTTC	0.562																																						dbGAP											0													65.0	71.0	69.0					11																	64940421		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.783T>G	11.37:g.64940421T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.G261	ENST00000377185.2	37	c.783	CCDS31606.1	11																																																																																			SPDYC	-	NULL	ENSG00000204710		0.562	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	113	0.88	1	T	NM_001008778		64940421	64940421	+1	no_errors	ENST00000377185	ensembl	human	known	69_37n	silent	93	16.07	18	SNP	0.000	G
SPECC1L	23384	genome.wustl.edu	37	22	24709376	24709376	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:24709376A>C	ENST00000314328.9	+	4	534	c.249A>C	c.(247-249)gcA>gcC	p.A83A	SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000437398.1_Silent_p.A83A|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.A83A|SPECC1L_ENST00000541492.1_Silent_p.A83A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	83					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CATCTGCAGCACCTTCAGCAT	0.488																																						dbGAP											0													97.0	78.0	85.0					22																	24709376		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.249A>C	22.37:g.24709376A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z758|F5H1H6|O15081	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.A83	ENST00000314328.9	37	c.249	CCDS33619.1	22																																																																																			SPECC1L	-	NULL	ENSG00000100014		0.488	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	102	0.96	1	A	NM_015330		24709376	24709376	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	0.000	C
SPECC1L	23384	genome.wustl.edu	37	22	24761584	24761584	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:24761584A>C	ENST00000314328.9	+	13	3253	c.2968A>C	c.(2968-2970)Acc>Ccc	p.T990P	SPECC1L_ENST00000437398.1_Missense_Mutation_p.T990P|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.T990P	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	990					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GACTCCCACCACCCGAAGCCG	0.498																																						dbGAP											0													120.0	93.0	102.0					22																	24761584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2968A>C	22.37:g.24761584A>C	ENSP00000325785:p.Thr990Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.T990P	ENST00000314328.9	37	c.2968	CCDS33619.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.99|14.99	2.701177|2.701177	0.48307|0.48307	.|.	.|.	ENSG00000258555|ENSG00000100014	ENST00000493440|ENST00000437398;ENST00000314328;ENST00000541492	.|T;T;T	.|0.60299	.|0.2;0.2;3.24	5.55|5.55	3.08|3.08	0.35506|0.35506	.|.	.|0.213251	.|0.49305	.|D	.|0.000150	T|T	0.33030|0.33030	0.0849|0.0849	N|N	0.08118|0.08118	0|0	0.42188|0.42188	D|D	0.991712|0.991712	.|B;B	.|0.17667	.|0.0;0.023	.|B;B	.|0.22386	.|0.002;0.039	T|T	0.06972|0.06972	-1.0797|-1.0797	5|10	.|0.22109	.|T	.|0.4	-18.1133|-18.1133	8.5455|8.5455	0.33419|0.33419	0.7572:0.0:0.2428:0.0|0.7572:0.0:0.2428:0.0	.|.	.|990;990	.|F5H1H6;Q69YQ0	.|.;CYTSA_HUMAN	P|P	4|990	.|ENSP00000393363:T990P;ENSP00000325785:T990P;ENSP00000439633:T990P	.|ENSP00000325785:T990P	H|T	+|+	2|1	0|0	KB-1896H10.1|SPECC1L	23091584|23091584	0.818000|0.818000	0.29161|0.29161	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.381000|1.381000	0.34362|0.34362	0.936000|0.936000	0.37367|0.37367	0.482000|0.482000	0.46254|0.46254	CAC|ACC	SPECC1L	-	NULL	ENSG00000100014		0.498	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	132	0.00	0	A	NM_015330		24761584	24761584	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	0.954	C
SPEF2	79925	genome.wustl.edu	37	5	35800152	35800152	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:35800152A>C	ENST00000356031.3	+	34	5067	c.4913A>C	c.(4912-4914)cAc>cCc	p.H1638P	SPEF2_ENST00000303129.4_Missense_Mutation_p.H435P|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.H1633P	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1638					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTGCTTGCCACCCAGACACC	0.463																																						dbGAP											0													203.0	186.0	192.0					5																	35800152		1971	4162	6133	-	-	-	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4913A>C	5.37:g.35800152A>C	ENSP00000348314:p.His1638Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.H1638P	ENST00000356031.3	37	c.4913	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839425	0.71488	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.64991	-0.13;-0.13;-0.13	5.57	5.57	0.84162	.	0.049889	0.85682	D	0.000000	T	0.78387	0.4275	M	0.74258	2.255	0.47374	D	0.999406	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.85130	0.978;0.997;0.994	T	0.78445	-0.2201	10	0.40728	T	0.16	.	15.3935	0.74767	1.0:0.0:0.0:0.0	.	435;1633;1638	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	P	1638;1633;435	ENSP00000348314:H1638P;ENSP00000412125:H1633P;ENSP00000303843:H435P	ENSP00000303843:H435P	H	+	2	0	SPEF2	35835909	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.444000	0.73452	2.117000	0.64856	0.459000	0.35465	CAC	SPEF2	-	NULL	ENSG00000152582		0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	349	0.57	2	A	NM_144722		35800152	35800152	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	missense	291	11.75	39	SNP	1.000	C
SPEN	23013	genome.wustl.edu	37	1	16258785	16258785	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:16258785T>G	ENST00000375759.3	+	11	6254	c.6050T>G	c.(6049-6051)gTg>gGg	p.V2017G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2017					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACCACTGAGGTGGGCCCCCAA	0.552																																						dbGAP											0													40.0	39.0	39.0					1																	16258785		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6050T>G	1.37:g.16258785T>G	ENSP00000364912:p.Val2017Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V2017G	ENST00000375759.3	37	c.6050	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	T	1.836	-0.468671	0.04445	.	.	ENSG00000065526	ENST00000375759	T	0.09073	3.02	4.92	-6.02	0.02192	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	9	0.23891	T	0.37	0.618	2.0672	0.03605	0.1938:0.3559:0.2899:0.1605	.	2017	Q96T58	MINT_HUMAN	G	2017	ENSP00000364912:V2017G	ENSP00000364912:V2017G	V	+	2	0	SPEN	16131372	0.000000	0.05858	0.001000	0.08648	0.526000	0.34562	-0.492000	0.06467	-1.270000	0.02433	-0.464000	0.05259	GTG	SPEN	-	NULL	ENSG00000065526		0.552	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	115	0.00	0	T	NM_015001		16258785	16258785	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	113	18.57	26	SNP	0.000	G
SPEN	23013	genome.wustl.edu	37	1	16260564	16260564	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:16260564T>G	ENST00000375759.3	+	11	8033	c.7829T>G	c.(7828-7830)gTg>gGg	p.V2610G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2610	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGAAAAGGTGGCTCCAGTC	0.458																																						dbGAP											0													108.0	108.0	108.0					1																	16260564		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7829T>G	1.37:g.16260564T>G	ENSP00000364912:p.Val2610Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V2610G	ENST00000375759.3	37	c.7829	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	T	7.457	0.643917	0.14451	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.24	4.1	0.47936	.	.	.	.	.	T	0.11707	0.0285	L	0.53249	1.67	0.48632	D	0.999682	B	0.32245	0.361	B	0.29440	0.102	T	0.03287	-1.1052	9	0.87932	D	0	-2.4654	10.1783	0.42952	0.0:0.0823:0.0:0.9177	.	2610	Q96T58	MINT_HUMAN	G	2610	ENSP00000364912:V2610G	ENSP00000364912:V2610G	V	+	2	0	SPEN	16133151	0.997000	0.39634	0.999000	0.59377	0.938000	0.57974	2.747000	0.47475	0.818000	0.34468	0.459000	0.35465	GTG	SPEN	-	NULL	ENSG00000065526		0.458	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	275	0.72	2	T	NM_015001		16260564	16260564	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	250	12.15	35	SNP	0.737	G
SPG11	80208	genome.wustl.edu	37	15	44865780	44865780	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:44865780A>C	ENST00000261866.7	-	32	6186	c.6170T>G	c.(6169-6171)gTg>gGg	p.V2057G	SPG11_ENST00000558319.1_Missense_Mutation_p.V2057G|SPG11_ENST00000427534.2_Missense_Mutation_p.V2057G|SPG11_ENST00000535302.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2057					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTCCCGTGTCACCTCTTCTGC	0.562																																						dbGAP											0													92.0	73.0	80.0					15																	44865780		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6170T>G	15.37:g.44865780A>C	ENSP00000261866:p.Val2057Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.V2057G	ENST00000261866.7	37	c.6170	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054978	0.75960	.	.	ENSG00000104133	ENST00000261866;ENST00000427534	T;T	0.79352	-1.26;-1.01	6.17	6.17	0.99709	.	0.055996	0.64402	D	0.000001	T	0.79522	0.4460	L	0.59436	1.845	0.80722	D	1	P;P	0.38729	0.644;0.644	P;B	0.44860	0.462;0.439	T	0.78521	-0.2172	10	0.40728	T	0.16	.	15.0521	0.71881	1.0:0.0:0.0:0.0	.	2057;2057	C4B7M2;Q96JI7	.;SPTCS_HUMAN	G	2057	ENSP00000261866:V2057G;ENSP00000396110:V2057G	ENSP00000261866:V2057G	V	-	2	0	SPG11	42653072	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.138000	0.89613	2.371000	0.80710	0.533000	0.62120	GTG	SPG11	-	NULL	ENSG00000104133		0.562	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	54	0.00	0	A			44865780	44865780	-1	no_errors	ENST00000261866	ensembl	human	known	69_37n	missense	45	22.03	13	SNP	1.000	C
SPG20	23111	genome.wustl.edu	37	13	36878665	36878665	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:36878665A>C	ENST00000451493.1	-	9	2055	c.1838T>G	c.(1837-1839)gTg>gGg	p.V613G	SPG20_ENST00000494062.2_Missense_Mutation_p.V613G|SPG20_ENST00000355182.4_Missense_Mutation_p.V613G|SPG20_ENST00000438666.2_Missense_Mutation_p.V613G	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	613					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGTTTTCTTCACCATTGCTTT	0.428																																						dbGAP											0													270.0	232.0	245.0					13																	36878665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1838T>G	13.37:g.36878665A>C	ENSP00000414147:p.Val613Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.V613G	ENST00000451493.1	37	c.1838	CCDS9356.1	13	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383246	0.82792	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.90069	-2.61;-2.61;-2.61	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.93370	0.7886	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93502	0.6845	10	0.51188	T	0.08	-13.1044	14.9889	0.71371	1.0:0.0:0.0:0.0	.	613;613	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	G	613	ENSP00000406061:V613G;ENSP00000347314:V613G;ENSP00000414147:V613G	ENSP00000347314:V613G	V	-	2	0	SPG20	35776665	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.611000	0.90905	1.957000	0.56846	0.482000	0.46254	GTG	SPG20	-	pfam_Senescence/spartin	ENSG00000133104		0.428	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	407	0.73	3	A			36878665	36878665	-1	no_errors	ENST00000355182	ensembl	human	known	69_37n	missense	303	10.03	34	SNP	1.000	C
SPHKAP	80309	genome.wustl.edu	37	2	228883176	228883176	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:228883176A>C	ENST00000392056.3	-	7	2440	c.2394T>G	c.(2392-2394)ggT>ggG	p.G798G	SPHKAP_ENST00000344657.5_Silent_p.G798G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	798						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCTCACTCCACCCTTGTCTT	0.488																																						dbGAP											0													373.0	358.0	363.0					2																	228883176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2394T>G	2.37:g.228883176A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.G798	ENST00000392056.3	37	c.2394	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	148	0.00	0	A	NM_030623		228883176	228883176	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	silent	156	13.81	25	SNP	0.000	C
SPIRE1	56907	genome.wustl.edu	37	18	12506621	12506621	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:12506621A>C	ENST00000409402.4	-	6	1094	c.827T>G	c.(826-828)gTg>gGg	p.V276G	SPIRE1_ENST00000309836.5_Missense_Mutation_p.V79G|SPIRE1_ENST00000383356.2_Missense_Mutation_p.V117G|SPIRE1_ENST00000410092.3_Missense_Mutation_p.V276G|SPIRE1_ENST00000453447.2_Missense_Mutation_p.V156G	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						ATCCCTCATCACCTGTACCCA	0.408																																						dbGAP											0													173.0	156.0	161.0					18																	12506621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.827T>G	18.37:g.12506621A>C	ENSP00000387266:p.Val276Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.V276G	ENST00000409402.4	37	c.827	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654163	0.88056	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356;ENST00000449797	T;T;T;T;T;T	0.60797	0.16;0.82;0.75;0.2;0.18;0.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81802	2.56	0.80722	D	1	D;P;P	0.61697	0.99;0.803;0.818	D;P;P	0.66847	0.947;0.571;0.49	T	0.80344	-0.1422	10	0.87932	D	0	-13.4777	16.27	0.82612	1.0:0.0:0.0:0.0	.	276;79;276	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	G	156;276;276;79;117;156	ENSP00000407050:V156G;ENSP00000387266:V276G;ENSP00000387226:V276G;ENSP00000309661:V79G;ENSP00000372847:V117G;ENSP00000401392:V156G	ENSP00000309661:V79G	V	-	2	0	SPIRE1	12496621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.756000	0.91651	2.248000	0.74166	0.533000	0.62120	GTG	SPIRE1	-	NULL	ENSG00000134278		0.408	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	220	0.00	0	A	XM_290818		12506621	12506621	-1	no_errors	ENST00000409402	ensembl	human	known	69_37n	missense	204	12.45	29	SNP	1.000	C
SPNS1	83985	genome.wustl.edu	37	16	28992840	28992840	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:28992840T>G	ENST00000311008.11	+	6	1090	c.713T>G	c.(712-714)gTg>gGg	p.V238G	SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.V165G|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.V283G|SPNS1_ENST00000334536.8_Missense_Mutation_p.V238G|SPNS1_ENST00000352260.7_Missense_Mutation_p.V216G|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	238					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TTCCTGGTAGTGCGGGAGCCG	0.622											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	59.0	59.0					16																	28992840		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.713T>G	16.37:g.28992840T>G	ENSP00000309945:p.Val238Gly	Somatic	806	WXS	Illumina GAIIx	Phase_IV	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V238G	ENST00000311008.11	37	c.713	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328802	0.81690	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.77	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.073540	0.53938	D	0.000050	T	0.66761	0.2822	M	0.63428	1.95	0.80722	D	1	P;P;P;D	0.61697	0.902;0.812;0.844;0.99	P;P;P;P	0.62014	0.813;0.676;0.783;0.897	T	0.69800	-0.5047	10	0.87932	D	0	.	6.9997	0.24803	0.0:0.1001:0.0:0.8999	.	165;216;238;238	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	G	238;238;216;165	ENSP00000309945:V238G;ENSP00000335494:V238G;ENSP00000306050:V216G;ENSP00000318228:V165G	ENSP00000309945:V238G	V	+	2	0	SPNS1	28900341	0.995000	0.38212	0.748000	0.31131	0.951000	0.60555	3.349000	0.52217	1.998000	0.58463	0.533000	0.62120	GTG	SPNS1	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000169682		0.622	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	53	0.00	0	T	NM_032038		28992840	28992840	+1	no_errors	ENST00000311008	ensembl	human	known	69_37n	missense	37	11.63	5	SNP	0.980	G
SPRED2	200734	genome.wustl.edu	37	2	65561834	65561834	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:65561834A>C	ENST00000356388.4	-	3	467	c.278T>G	c.(277-279)gTc>gGc	p.V93G	SPRED2_ENST00000443619.2_Missense_Mutation_p.V90G|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	93	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCTATTATCGACCTTCCAGTG	0.453																																						dbGAP											0													211.0	196.0	201.0					2																	65561834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.278T>G	2.37:g.65561834A>C	ENSP00000348753:p.Val93Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.V93G	ENST00000356388.4	37	c.278	CCDS33211.1	2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.788242	0.90367	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84	5.28	5.28	0.74379	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.99;1.0	D	0.99861	1.1083	10	0.72032	D	0.01	-21.6429	15.1963	0.73092	1.0:0.0:0.0:0.0	.	90;93	E9PEP0;Q7Z698	.;SPRE2_HUMAN	G	93;90;108;25;93	ENSP00000348753:V93G;ENSP00000393697:V90G;ENSP00000390595:V108G;ENSP00000407627:V25G;ENSP00000406481:V93G	ENSP00000348753:V93G	V	-	2	0	SPRED2	65415338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.999000	0.58509	0.533000	0.62120	GTC	SPRED2	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000198369		0.453	SPRED2-001	KNOWN	basic|CCDS	protein_coding	SPRED2	HGNC	protein_coding	OTTHUMT00000327632.1	177	0.00	0	A			65561834	65561834	-1	no_errors	ENST00000356388	ensembl	human	known	69_37n	missense	120	16.08	23	SNP	1.000	C
SPOPL	339745	genome.wustl.edu	37	2	139326537	139326537	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:139326537T>G	ENST00000280098.4	+	11	1445	c.1066T>G	c.(1066-1068)Tgg>Ggg	p.W356G	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	356					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AACATCAGGGTGGAAGTCCAT	0.398																																						dbGAP											0													225.0	229.0	227.0					2																	139326537		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1066T>G	2.37:g.139326537T>G	ENSP00000280098:p.Trp356Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.W356G	ENST00000280098.4	37	c.1066	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506362	0.64410	.	.	ENSG00000144228	ENST00000280098	T	0.72835	-0.69	5.97	5.97	0.96955	.	0.102562	0.64402	D	0.000001	T	0.78013	0.4217	M	0.81239	2.535	0.80722	D	1	P	0.45348	0.856	P	0.46825	0.528	T	0.79610	-0.1732	9	.	.	.	-7.9864	16.4504	0.83984	0.0:0.0:0.0:1.0	.	356	Q6IQ16	SPOPL_HUMAN	G	356	ENSP00000280098:W356G	.	W	+	1	0	SPOPL	139043007	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TGG	SPOPL	-	NULL	ENSG00000144228		0.398	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	788	0.13	1	T			139326537	139326537	+1	no_errors	ENST00000280098	ensembl	human	known	69_37n	missense	606	15.08	108	SNP	1.000	G
SPRY1	10252	genome.wustl.edu	37	4	124323033	124323033	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:124323033A>C	ENST00000394339.2	+	2	627	c.287A>C	c.(286-288)cAc>cCc	p.H96P	SPRY1_ENST00000339241.1_Missense_Mutation_p.H96P	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	96					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CACACAAGCCACCTGGGACAT	0.502																																						dbGAP											0													72.0	76.0	74.0					4																	124323033		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.287A>C	4.37:g.124323033A>C	ENSP00000377871:p.His96Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.H96P	ENST00000394339.2	37	c.287	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894296	0.33442	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.56103	0.48;1.48;0.48	4.78	3.57	0.40892	.	0.095232	0.39834	N	0.001251	T	0.39118	0.1066	L	0.44542	1.39	0.53005	D	0.999968	P	0.37864	0.61	B	0.32465	0.146	T	0.27468	-1.0073	9	.	.	.	-18.3307	10.3788	0.44099	0.9206:0.0:0.0794:0.0	.	96	O43609	SPY1_HUMAN	P	96	ENSP00000343785:H96P;ENSP00000421036:H96P;ENSP00000377871:H96P	.	H	+	2	0	SPRY1	124542483	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.767000	0.85331	2.009000	0.58944	0.459000	0.35465	CAC	SPRY1	-	NULL	ENSG00000164056		0.502	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	133	0.00	0	A			124323033	124323033	+1	no_errors	ENST00000339241	ensembl	human	known	69_37n	missense	108	15.62	20	SNP	1.000	C
SPRY3	10251	genome.wustl.edu	37	X	155003547	155003547	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:155003547T>G	ENST00000302805.2	+	2	445	c.14T>G	c.(13-15)gTg>gGg	p.V5G		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	5					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATGCTGCGGTGACAGATGAT	0.463																																						dbGAP											0													175.0	174.0	175.0					X																	155003547		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.14T>G	X.37:g.155003547T>G	ENSP00000302978:p.Val5Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.V5G	ENST00000302805.2	37	c.14	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	T	7.462	0.644871	0.14451	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.57273	0.41	3.14	1.88	0.25563	.	0.806513	0.10610	U	0.654626	T	0.36552	0.0971	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24657	-1.0154	9	0.40728	T	0.16	0.2849	4.8695	0.13625	0.0:0.2891:0.0:0.7109	.	5;5	Q6ZUP3;O43610	.;SPY3_HUMAN	G	5	ENSP00000302978:V5G	ENSP00000302978:V5G	V	+	2	0	SPRY3	154656741	0.642000	0.27260	0.697000	0.30258	0.882000	0.50991	0.700000	0.25601	0.268000	0.21939	0.231000	0.17811	GTG	SPRY3	-	NULL	ENSG00000168939		0.463	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	409	0.97	4	T	NM_005840		155003547	155003547	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	missense	390	13.50	61	SNP	0.256	G
SPTA1	6708	genome.wustl.edu	37	1	158615142	158615142	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:158615142T>G	ENST00000368147.4	-	29	4210	c.4030A>C	c.(4030-4032)Acc>Ccc	p.T1344P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1344					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTGGAAGGTGGGAGCCTCT	0.483																																						dbGAP											0													65.0	64.0	64.0					1																	158615142		1915	4150	6065	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4030A>C	1.37:g.158615142T>G	ENSP00000357129:p.Thr1344Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.T1344P	ENST00000368147.4	37	c.4030	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830015	0.50845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	4.96	-0.367	0.12541	.	.	.	.	.	T	0.44052	0.1275	M	0.73962	2.25	0.42116	D	0.9914	P	0.36753	0.568	P	0.55508	0.777	T	0.49163	-0.8968	9	0.33141	T	0.24	.	5.2286	0.15410	0.3964:0.0754:0.0:0.5282	.	1344	P02549	SPTA1_HUMAN	P	1344	ENSP00000357130:T1344P;ENSP00000357129:T1344P	ENSP00000357129:T1344P	T	-	1	0	SPTA1	156881766	0.975000	0.34042	0.078000	0.20375	0.952000	0.60782	0.786000	0.26844	-0.235000	0.09767	-0.309000	0.09137	ACC	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	132	0.75	1	T	NM_003126		158615142	158615142	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	259	13.91	42	SNP	0.860	G
SPTA1	6708	genome.wustl.edu	37	1	158653164	158653164	+	Silent	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:158653164C>T	ENST00000368147.4	-	3	567	c.387G>A	c.(385-387)acG>acA	p.T129T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	129				Missing (in Ref. 3; AAA60575). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATATACCTTCGTTTCTTCGT	0.393																																						dbGAP											0													198.0	176.0	183.0					1																	158653164		1836	4093	5929	-	-	-	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.387G>A	1.37:g.158653164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.T129	ENST00000368147.4	37	c.387	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	152	0.00	0	C	NM_003126		158653164	158653164	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	silent	267	13.03	40	SNP	0.728	T
SPTB	6710	genome.wustl.edu	37	14	65253445	65253445	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:65253445T>G	ENST00000389721.5	-	15	3270	c.3238A>C	c.(3238-3240)Acc>Ccc	p.T1080P	SPTB_ENST00000389720.3_Missense_Mutation_p.T1080P|SPTB_ENST00000389722.3_Missense_Mutation_p.T1080P|SPTB_ENST00000542895.1_Missense_Mutation_p.T1080P|SPTB_ENST00000556626.1_Missense_Mutation_p.T1080P	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1080					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTTCTGGGTGATGGAGAGC	0.612																																						dbGAP											0													60.0	63.0	62.0					14																	65253445		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3238A>C	14.37:g.65253445T>G	ENSP00000374371:p.Thr1080Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T1080P	ENST00000389721.5	37	c.3238	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519630	0.27211	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.89	0.754	0.18410	.	0.397872	0.28047	N	0.016811	T	0.62539	0.2436	L	0.60067	1.865	0.31089	N	0.711087	P;P	0.47034	0.889;0.813	D;P	0.65140	0.932;0.84	T	0.64141	-0.6477	10	0.87932	D	0	.	8.579	0.33617	0.0:0.603:0.0:0.397	.	1080;1084	P11277;Q59FP5	SPTB1_HUMAN;.	P	1084;1080;1080;1080;1080;1080	ENSP00000374372:T1080P;ENSP00000451752:T1080P;ENSP00000374371:T1080P;ENSP00000443882:T1080P;ENSP00000374370:T1080P	ENSP00000374370:T1080P	T	-	1	0	SPTB	64323198	0.010000	0.17322	0.981000	0.43875	0.136000	0.21042	0.218000	0.17622	-0.021000	0.14009	-1.181000	0.01715	ACC	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	34	0.00	0	T			65253445	65253445	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.875	G
SPTB	6710	genome.wustl.edu	37	14	65261209	65261209	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:65261209T>G	ENST00000389721.5	-	12	1803	c.1771A>C	c.(1771-1773)Acc>Ccc	p.T591P	SPTB_ENST00000389720.3_Missense_Mutation_p.T591P|SPTB_ENST00000389722.3_Missense_Mutation_p.T591P|SPTB_ENST00000542895.1_Missense_Mutation_p.T591P|SPTB_ENST00000556626.1_Missense_Mutation_p.T591P	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	591					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AACTTCAGGGTGGCTGCGGTG	0.537																																						dbGAP											0													234.0	215.0	222.0					14																	65261209		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1771A>C	14.37:g.65261209T>G	ENSP00000374371:p.Thr591Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T591P	ENST00000389721.5	37	c.1771	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721780	0.30503	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.72	4.42	0.53409	.	0.052841	0.85682	D	0.000000	T	0.31765	0.0807	N	0.24115	0.695	0.44417	D	0.997338	P;B	0.34562	0.457;0.294	B;B	0.37480	0.251;0.18	T	0.26052	-1.0114	10	0.87932	D	0	.	4.3466	0.11136	0.0:0.2634:0.0:0.7366	.	591;595	P11277;Q59FP5	SPTB1_HUMAN;.	P	595;591;591;591;591;591	ENSP00000374372:T591P;ENSP00000451752:T591P;ENSP00000374371:T591P;ENSP00000443882:T591P;ENSP00000374370:T591P	ENSP00000374370:T591P	T	-	1	0	SPTB	64330962	1.000000	0.71417	0.894000	0.35097	0.031000	0.12232	4.966000	0.63715	2.304000	0.77564	0.528000	0.53228	ACC	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.537	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	125	0.79	1	T			65261209	65261209	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	missense	92	17.86	20	SNP	0.991	G
SPTLC2	9517	genome.wustl.edu	37	14	78045343	78045343	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:78045343A>C	ENST00000216484.2	-	3	630	c.437T>G	c.(436-438)gTg>gGg	p.V146G		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	146					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CATGATGTCCACCCTGGCTCC	0.388																																						dbGAP											0													95.0	94.0	94.0					14																	78045343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.437T>G	14.37:g.78045343A>C	ENSP00000216484:p.Val146Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V146G	ENST00000216484.2	37	c.437	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927561	0.73327	.	.	ENSG00000100596	ENST00000216484	T	0.68765	-0.35	5.54	5.54	0.83059	Pyridoxal phosphate-dependent transferase, major domain (1);	0.240069	0.47852	D	0.000218	T	0.60077	0.2241	L	0.46819	1.47	0.80722	D	1	P	0.36789	0.57	B	0.32090	0.14	T	0.65651	-0.6116	10	0.87932	D	0	-14.3265	15.6693	0.77262	1.0:0.0:0.0:0.0	.	146	O15270	SPTC2_HUMAN	G	146	ENSP00000216484:V146G	ENSP00000216484:V146G	V	-	2	0	SPTLC2	77115096	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	9.211000	0.95120	2.102000	0.63906	0.533000	0.62120	GTG	SPTLC2	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000100596		0.388	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	160	0.00	0	A	NM_004863		78045343	78045343	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	99	23.85	31	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30721028	30721028	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:30721028A>C	ENST00000262518.4	+	7	1213	c.828A>C	c.(826-828)ccA>ccC	p.P276P	SRCAP_ENST00000344771.4_Silent_p.P276P|SRCAP_ENST00000395059.2_Silent_p.P276P|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	276	Poly-Pro.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGTCCTCCACCCCCTGCTT	0.557																																						dbGAP											0													81.0	73.0	76.0					16																	30721028		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.828A>C	16.37:g.30721028A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P276	ENST00000262518.4	37	c.828	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	152	0.65	1	A	NM_006662		30721028	30721028	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	silent	133	22.54	39	SNP	0.999	C
SRCAP	10847	genome.wustl.edu	37	16	30736382	30736382	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:30736382A>C	ENST00000262518.4	+	25	6022	c.5637A>C	c.(5635-5637)ccA>ccC	p.P1879P	SRCAP_ENST00000344771.4_Silent_p.P1721P|SRCAP_ENST00000395059.2_Silent_p.P1817P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1879	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCCCCCACCACCTCGTTCCC	0.567																																						dbGAP											0													47.0	57.0	54.0					16																	30736382		2195	4289	6484	-	-	-	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5637A>C	16.37:g.30736382A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P1879	ENST00000262518.4	37	c.5637	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	72	0.00	0	A	NM_006662		30736382	30736382	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	silent	57	18.31	13	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30740467	30740467	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:30740467A>C	ENST00000262518.4	+	26	6224	c.5839A>C	c.(5839-5841)Acc>Ccc	p.T1947P	SRCAP_ENST00000344771.4_Missense_Mutation_p.T1789P|SRCAP_ENST00000395059.2_Missense_Mutation_p.T1885P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1947					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCACCCCACCTTTTGGAC	0.592																																						dbGAP											0													54.0	57.0	56.0					16																	30740467		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5839A>C	16.37:g.30740467A>C	ENSP00000262518:p.Thr1947Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.T1947P	ENST00000262518.4	37	c.5839	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077729	0.36662	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.8;-2.81;-2.81	5.4	4.28	0.50868	.	0.225170	0.31760	N	0.007118	T	0.75982	0.3924	N	0.08118	0	0.29239	N	0.872752	P;B	0.34757	0.467;0.337	B;B	0.31547	0.132;0.062	T	0.69884	-0.5024	10	0.33940	T	0.23	-7.582	5.3441	0.16000	0.8405:0.0:0.1595:0.0	.	1885;1947	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	P	1947;1885;1789	ENSP00000262518:T1947P;ENSP00000378499:T1885P;ENSP00000343042:T1789P	ENSP00000262518:T1947P	T	+	1	0	SRCAP	30647968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.639000	0.54339	2.273000	0.75805	0.482000	0.46254	ACC	SRCAP	-	NULL	ENSG00000080603		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	85	0.00	0	A	NM_006662		30740467	30740467	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	83	20.75	22	SNP	1.000	C
SREBF2	6721	genome.wustl.edu	37	22	42267007	42267007	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42267007A>C	ENST00000361204.4	+	4	1001	c.835A>C	c.(835-837)Acc>Ccc	p.T279P		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	279	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGCCCTCACCACCCCTATCCA	0.562																																						dbGAP											0													119.0	117.0	117.0					22																	42267007		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.835A>C	22.37:g.42267007A>C	ENSP00000354476:p.Thr279Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T279P	ENST00000361204.4	37	c.835	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044888	0.55110	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.57752	0.38	5.49	-0.756	0.11057	.	0.193301	0.53938	D	0.000042	T	0.29158	0.0725	N	0.22421	0.69	0.50313	D	0.999863	P	0.37955	0.612	B	0.32289	0.143	T	0.03852	-1.0998	10	0.59425	D	0.04	-17.3851	6.3741	0.21497	0.5415:0.0:0.3466:0.1119	.	279	Q12772	SRBP2_HUMAN	P	279	ENSP00000354476:T279P	ENSP00000354476:T279P	T	+	1	0	SREBF2	40596953	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.081000	0.41596	0.080000	0.16959	0.374000	0.22700	ACC	SREBF2	-	NULL	ENSG00000198911		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	104	0.95	1	A	NM_004599		42267007	42267007	+1	no_errors	ENST00000361204	ensembl	human	known	69_37n	missense	84	28.21	33	SNP	1.000	C
SRFBP1	153443	genome.wustl.edu	37	5	121356235	121356235	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:121356235T>G	ENST00000339397.4	+	6	877	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGAAGAAAGGTTTTACAAGCA	0.413																																						dbGAP											0													127.0	114.0	118.0					5																	121356235		1876	4124	6000	-	-	-	SO:0001583	missense	0			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.805T>G	5.37:g.121356235T>G	ENSP00000341324:p.Phe269Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Bud-site_select_BUD22	p.F269V	ENST00000339397.4	37	c.805	CCDS43354.1	5	.	.	.	.	.	.	.	.	.	.	T	28.6	4.933529	0.92458	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.71	5.71	0.89125	.	0.045495	0.85682	D	0.000000	T	0.78123	0.4234	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.81068	-0.1100	9	0.87932	D	0	-10.3034	15.984	0.80133	0.0:0.0:0.0:1.0	.	269	Q8NEF9	SRFB1_HUMAN	V	269	.	ENSP00000341324:F269V	F	+	1	0	SRFBP1	121384134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.580000	0.82523	2.173000	0.68751	0.460000	0.39030	TTT	SRFBP1	-	NULL	ENSG00000151304		0.413	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRFBP1	HGNC	protein_coding	OTTHUMT00000371200.1	265	0.00	0	T	NM_152546		121356235	121356235	+1	no_errors	ENST00000339397	ensembl	human	known	69_37n	missense	249	12.01	34	SNP	1.000	G
SRGAP2	23380	genome.wustl.edu	37	1	206628329	206628329	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:206628329T>G	ENST00000414007.1	+	17	2046	c.2046T>G	c.(2044-2046)agT>agG	p.S682R	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.S127R			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	822					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCTGTCCCAGTGGGGGTCATG	0.527																																						dbGAP											0													90.0	103.0	99.0					1																	206628329		1941	4147	6088	-	-	-	SO:0001583	missense	0			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2046T>G	1.37:g.206628329T>G	ENSP00000390898:p.Ser682Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S127R	ENST00000414007.1	37	c.381		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.73|13.73|13.73	2.325078|2.325078|2.325078	0.41197|0.41197|0.41197	.|.|.	.|.|.	ENSG00000163486|ENSG00000163486|ENSG00000163486	ENST00000414007;ENST00000419187;ENST00000439126|ENST00000426388|ENST00000295713	T;T;T|.|.	0.32272|.|.	3.06;1.46;2.59|.|.	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|.|.	0.140168|.|.	0.64402|.|.	D|.|.	0.000006|.|.	T|T|T	0.42223|0.42223|0.42223	0.1193|0.1193|0.1193	.|.|.	.|.|.	.|.|.	0.28295|.|.	N|.|.	0.923355|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.55528|0.55528|0.55528	-0.8127|-0.8127|-0.8127	6|3|3	0.41790|.|.	T|.|.	0.15|.|.	.|.|.	5.1662|5.1662|5.1662	0.15086|0.15086|0.15086	0.1597:0.0853:0.0:0.755|0.1597:0.0853:0.0:0.755|0.1597:0.0853:0.0:0.755	.|.|.	.|.|.	.|.|.	.|.|.	R|G|G	682;127;436|105|736	ENSP00000390898:S682R;ENSP00000397990:S127R;ENSP00000403036:S436R|.|.	ENSP00000390898:S682R|.|.	S|V|W	+|+|+	3|2|1	2|0|0	SRGAP2|SRGAP2|SRGAP2	204694952|204694952|204694952	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.414000|0.414000|0.414000	0.21164|0.21164|0.21164	2.266000|2.266000|2.266000	0.75297|0.75297|0.75297	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTG|TGG	SRGAP2	-	NULL	ENSG00000163486		0.527	SRGAP2-201	KNOWN	basic	protein_coding	SRGAP2	HGNC	protein_coding		95	0.00	0	T	NM_015326		206628329	206628329	+1	no_stop_codon	ENST00000419187	ensembl	human	known	69_37n	missense	177	11.44	23	SNP	1.000	G
SRGAP3	9901	genome.wustl.edu	37	3	9034599	9034599	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:9034599A>C	ENST00000383836.3	-	20	2976	c.2549T>G	c.(2548-2550)gTg>gGg	p.V850G	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V826G	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAA	0.552			T	RAF1	pilocytic astrocytoma																																	dbGAP		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													85.0	82.0	83.0					3																	9034599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549T>G	3.37:g.9034599A>C	ENSP00000373347:p.Val850Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V850G	ENST00000383836.3	37	c.2549	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355314	0.41700	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.25579	1.79;2.19	5.17	3.8	0.43715	.	0.138616	0.47852	D	0.000209	T	0.12305	0.0299	N	0.08118	0	0.80722	D	1	B;B	0.25272	0.122;0.075	B;B	0.25405	0.06;0.027	T	0.13335	-1.0513	10	0.17369	T	0.5	.	11.2129	0.48808	0.9137:0.0:0.0863:0.0	.	826;850	O43295-2;O43295	.;SRGP2_HUMAN	G	850;826	ENSP00000373347:V850G;ENSP00000353587:V826G	ENSP00000353587:V826G	V	-	2	0	SRGAP3	9009599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.126000	0.71635	1.952000	0.56665	0.482000	0.46254	GTG	SRGAP3	-	NULL	ENSG00000196220		0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	131	0.76	1	A			9034599	9034599	-1	no_errors	ENST00000383836	ensembl	human	known	69_37n	missense	124	17.88	27	SNP	1.000	C
SRI	6717	genome.wustl.edu	37	7	87839422	87839422	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:87839422A>C	ENST00000265729.2	-	5	325	c.273T>G	c.(271-273)ggT>ggG	p.G91G	SRI_ENST00000490437.1_Silent_p.G48G|SRI_ENST00000431660.1_Silent_p.G76G|SRI_ENST00000419179.1_Silent_p.G91G|SRI_ENST00000394641.3_Silent_p.G76G	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ATTCATTGAAACCCATTGTGC	0.388																																						dbGAP											0													164.0	162.0	163.0					7																	87839422		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.273T>G	7.37:g.87839422A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G91	ENST00000265729.2	37	c.273	CCDS5612.1	7																																																																																			SRI	-	smart_EF_hand_Ca-bd	ENSG00000075142		0.388	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRI	HGNC	protein_coding	OTTHUMT00000253680.1	179	0.56	1	A	NM_003130		87839422	87839422	-1	no_errors	ENST00000265729	ensembl	human	known	69_37n	silent	115	16.55	23	SNP	0.975	C
SRP68	6730	genome.wustl.edu	37	17	74035868	74035868	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:74035868T>G	ENST00000307877.2	-	16	1964	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	SRP68_ENST00000602720.1_Silent_p.P262P|SRP68_ENST00000355113.5_Silent_p.P500P|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Silent_p.P563P	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	601					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCTCAAGGGGTGGGAAAGCCA	0.547																																						dbGAP											0													95.0	80.0	85.0					17																	74035868		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1803A>C	17.37:g.74035868T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	NULL	p.P601	ENST00000307877.2	37	c.1803	CCDS11738.1	17																																																																																			SRP68	-	NULL	ENSG00000167881		0.547	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	28	0.00	0	T	NM_014230		74035868	74035868	-1	no_errors	ENST00000307877	ensembl	human	known	69_37n	silent	30	18.92	7	SNP	0.518	G
SRPK2	6733	genome.wustl.edu	37	7	104782602	104782602	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:104782602T>G	ENST00000393651.3	-	11	1483	c.1396A>C	c.(1396-1398)Acc>Ccc	p.T466P	SRPK2_ENST00000357311.3_Missense_Mutation_p.T455P|SRPK2_ENST00000489828.1_Missense_Mutation_p.T455P	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AACAACGAGGTGGAAAACTCT	0.468																																						dbGAP											0													113.0	109.0	110.0					7																	104782602		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1396A>C	7.37:g.104782602T>G	ENSP00000377262:p.Thr466Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		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,pfscan_Prot_kinase_cat_dom	p.T466P	ENST00000393651.3	37	c.1396	CCDS34724.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.13|12.13	1.846892|1.846892	0.32606|0.32606	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000477925|ENST00000393651;ENST00000357311;ENST00000489828	.|T;T;T	.|0.22539	.|1.95;1.95;1.95	5.51|5.51	1.7|1.7	0.24286|0.24286	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.321139	.|0.34460	.|N	.|0.003944	T|T	0.13243|0.13243	0.0321|0.0321	L|L	0.39085|0.39085	1.19|1.19	0.33106|0.33106	D|D	0.539891|0.539891	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.10450	.|0.005;0.0	T|T	0.08166|0.08166	-1.0735|-1.0735	5|10	.|0.37606	.|T	.|0.19	-6.6913|-6.6913	4.0458|4.0458	0.09773|0.09773	0.0:0.3164:0.1796:0.5041|0.0:0.3164:0.1796:0.5041	.|.	.|466;455	.|P78362-2;P78362	.|.;SRPK2_HUMAN	P|P	61|466;455;455	.|ENSP00000377262:T466P;ENSP00000349863:T455P;ENSP00000419791:T455P	.|ENSP00000349863:T455P	H|T	-|-	2|1	0|0	SRPK2|SRPK2	104569838|104569838	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.972000|0.972000	0.66771|0.66771	1.084000|1.084000	0.30828|0.30828	0.434000|0.434000	0.26340|0.26340	0.454000|0.454000	0.30748|0.30748	CAC|ACC	SRPK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000135250		0.468	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	310	0.00	0	T	NM_182691		104782602	104782602	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	missense	283	12.35	40	SNP	0.984	G
SRPK2	6733	genome.wustl.edu	37	7	104783590	104783590	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:104783590A>C	ENST00000393651.3	-	10	1088	c.1001T>G	c.(1000-1002)gTg>gGg	p.V334G	SRPK2_ENST00000357311.3_Missense_Mutation_p.V323G|SRPK2_ENST00000489828.1_Missense_Mutation_p.V323G	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TTTTAGTTTCACCTCTGGGCA	0.493																																						dbGAP											0													128.0	117.0	121.0					7																	104783590		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1001T>G	7.37:g.104783590A>C	ENSP00000377262:p.Val334Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		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,pfscan_Prot_kinase_cat_dom	p.V334G	ENST00000393651.3	37	c.1001	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	A	9.030	0.987125	0.18889	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.22743	1.94;1.94;1.94	5.57	0.509	0.16977	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.814303	0.10981	N	0.612654	T	0.10208	0.0250	N	0.14661	0.345	0.51233	D	0.999914	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21965	-1.0230	10	0.23302	T	0.38	-0.1191	5.1137	0.14823	0.4983:0.2906:0.2111:0.0	.	334;323	P78362-2;P78362	.;SRPK2_HUMAN	G	334;323;323	ENSP00000377262:V334G;ENSP00000349863:V323G;ENSP00000419791:V323G	ENSP00000349863:V323G	V	-	2	0	SRPK2	104570826	0.921000	0.31238	0.935000	0.37517	0.946000	0.59487	0.178000	0.16820	0.069000	0.16605	0.454000	0.30748	GTG	SRPK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000135250		0.493	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	262	0.38	1	A	NM_182691		104783590	104783590	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	missense	230	13.86	37	SNP	0.991	C
SRR	63826	genome.wustl.edu	37	17	2221269	2221269	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:2221269A>C	ENST00000344595.5	+	3	592	c.274A>C	c.(274-276)Acc>Ccc	p.T92P	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	92					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CCAGGCTCTCACCTATGCTGC	0.463																																						dbGAP											0													113.0	109.0	110.0					17																	2221269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.274A>C	17.37:g.2221269A>C	ENSP00000339435:p.Thr92Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTI5|Q6IA55	Missense_Mutation	SNP	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	p.T92P	ENST00000344595.5	37	c.274	CCDS11017.1	17	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846465	0.51164	.	.	ENSG00000167720	ENST00000344595	D	0.96685	-4.09	5.39	1.86	0.25419	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.242592	0.40908	D	0.000982	D	0.90848	0.7125	N	0.12182	0.205	0.28608	N	0.90882	B	0.26975	0.165	B	0.39771	0.309	D	0.84268	0.0487	10	0.87932	D	0	-2.7232	2.605	0.04876	0.3755:0.0:0.2406:0.3839	.	92	Q9GZT4	SRR_HUMAN	P	92	ENSP00000339435:T92P	ENSP00000339435:T92P	T	+	1	0	SRR	2168019	1.000000	0.71417	0.991000	0.47740	0.584000	0.36387	2.144000	0.42197	0.054000	0.16065	-0.333000	0.08304	ACC	SRR	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	ENSG00000167720		0.463	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRR	HGNC	protein_coding	OTTHUMT00000207129.2	210	0.47	1	A	NM_021947		2221269	2221269	+1	no_errors	ENST00000344595	ensembl	human	known	69_37n	missense	193	13.78	31	SNP	0.957	C
SRRM1	10250	genome.wustl.edu	37	1	24993321	24993321	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:24993321A>C	ENST00000323848.9	+	13	1959	c.1644A>C	c.(1642-1644)agA>agC	p.R548S	SRRM1_ENST00000447431.2_Missense_Mutation_p.R560S|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R557S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	548	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GACGGAGGAGAAGTCCATCCC	0.537																																					Ovarian(68;897 1494 3282 17478)	dbGAP											0													51.0	46.0	48.0					1																	24993321		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1644A>C	1.37:g.24993321A>C	ENSP00000326261:p.Arg548Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O60585|Q5VVN4	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_PWI	p.R560S	ENST00000323848.9	37	c.1680	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791312	0.50102	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.59772	0.5;0.24;0.53	5.75	3.19	0.36642	.	0.000000	0.64402	D	0.000002	T	0.44829	0.1312	L	0.59436	1.845	0.80722	D	1	P;B	0.36909	0.573;0.437	B;B	0.30646	0.118;0.055	T	0.32025	-0.9922	10	0.46703	T	0.11	-3.6502	4.336	0.11087	0.6126:0.0:0.2499:0.1375	.	560;548	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	S	548;560;557	ENSP00000326261:R548S;ENSP00000391430:R560S;ENSP00000363510:R557S	ENSP00000326261:R548S	R	+	3	2	SRRM1	24865908	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.265000	0.33027	0.309000	0.22966	0.528000	0.53228	AGA	SRRM1	-	NULL	ENSG00000133226		0.537	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	63	0.00	0	A	NM_005839		24993321	24993321	+1	no_errors	ENST00000447431	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.999	C
SRRM2	23524	genome.wustl.edu	37	16	2812584	2812584	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2812584A>C	ENST00000301740.8	+	11	2604	c.2055A>C	c.(2053-2055)acA>acC	p.T685T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	685	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCTCCAGAACACCAGCCAGGA	0.592																																						dbGAP											0													78.0	81.0	80.0					16																	2812584		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2055A>C	16.37:g.2812584A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.T685	ENST00000301740.8	37	c.2055	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	359	0.28	1	A			2812584	2812584	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	301	10.91	37	SNP	0.222	C
SRRM2	23524	genome.wustl.edu	37	16	2812962	2812962	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2812962A>C	ENST00000301740.8	+	11	2982	c.2433A>C	c.(2431-2433)ccA>ccC	p.P811P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	811	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTAGAACGCCACCCAGACGCA	0.502																																						dbGAP											0													218.0	219.0	219.0					16																	2812962		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2433A>C	16.37:g.2812962A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.P811	ENST00000301740.8	37	c.2433	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.502	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	1105	0.80	9	A			2812962	2812962	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	908	15.52	167	SNP	0.171	C
SRRM2	23524	genome.wustl.edu	37	16	2813073	2813073	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2813073A>C	ENST00000301740.8	+	11	3093	c.2544A>C	c.(2542-2544)acA>acC	p.T848T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	848	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATCTGGAACACCACCGAGGC	0.483																																						dbGAP											0													152.0	148.0	149.0					16																	2813073		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2544A>C	16.37:g.2813073A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.T848	ENST00000301740.8	37	c.2544	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	753	0.79	6	A			2813073	2813073	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	576	14.85	101	SNP	0.997	C
SRRM2	23524	genome.wustl.edu	37	16	2813076	2813076	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2813076A>C	ENST00000301740.8	+	11	3096	c.2547A>C	c.(2545-2547)ccA>ccC	p.P849P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	849	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGGAACACCACCGAGGCAAG	0.473																																						dbGAP											0													148.0	144.0	145.0					16																	2813076		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2547A>C	16.37:g.2813076A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.P849	ENST00000301740.8	37	c.2547	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	761	0.39	3	A			2813076	2813076	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	584	12.44	84	SNP	1.000	C
SRRM2	23524	genome.wustl.edu	37	16	2813157	2813157	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2813157A>C	ENST00000301740.8	+	11	3177	c.2628A>C	c.(2626-2628)tcA>tcC	p.S876S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	876	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTGAATCATCACCTGACCCTG	0.512																																						dbGAP											0													91.0	83.0	85.0					16																	2813157		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2628A>C	16.37:g.2813157A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.S876	ENST00000301740.8	37	c.2628	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.512	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	495	0.20	1	A			2813157	2813157	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	350	16.98	72	SNP	0.007	C
SRRM2	23524	genome.wustl.edu	37	16	2814251	2814251	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2814251T>G	ENST00000301740.8	+	11	4271	c.3722T>G	c.(3721-3723)gTg>gGg	p.V1241G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1241	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTAATGGAGGTGGTAGAGAAG	0.443																																						dbGAP											0													107.0	114.0	112.0					16																	2814251		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3722T>G	16.37:g.2814251T>G	ENSP00000301740:p.Val1241Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.V1241G	ENST00000301740.8	37	c.3722	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	T	8.344	0.829357	0.16749	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.29655	1.56	5.41	3.18	0.36537	.	0.131978	0.34268	N	0.004112	T	0.17023	0.0409	N	0.22421	0.69	0.46586	D	0.999118	B	0.30068	0.267	B	0.30401	0.115	T	0.07501	-1.0769	10	0.41790	T	0.15	-6.0275	3.2732	0.06889	0.1711:0.1813:0.0:0.6476	.	1241	Q9UQ35	SRRM2_HUMAN	G	1241;1241;493	ENSP00000301740:V1241G	ENSP00000301740:V1241G	V	+	2	0	SRRM2	2754252	0.351000	0.24887	0.971000	0.41717	0.988000	0.76386	0.521000	0.22893	0.892000	0.36259	0.533000	0.62120	GTG	SRRM2	-	NULL	ENSG00000167978		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	537	0.37	2	T			2814251	2814251	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	351	15.91	67	SNP	0.960	G
SRRM2	23524	genome.wustl.edu	37	16	2816961	2816961	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:2816961A>C	ENST00000301740.8	+	11	6981	c.6432A>C	c.(6430-6432)acA>acC	p.T2144T	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2144	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCTCTAGAACACCCATGTCTG	0.547																																						dbGAP											0													125.0	115.0	118.0					16																	2816961		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6432A>C	16.37:g.2816961A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.T2144	ENST00000301740.8	37	c.6432	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.547	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	237	0.83	2	A			2816961	2816961	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	141	16.07	27	SNP	1.000	C
SRSF5	6430	genome.wustl.edu	37	14	70235393	70235393	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:70235393T>G	ENST00000553521.1	+	4	1650		c.e4+2		SRSF5_ENST00000553635.1_Splice_Site|SRSF5_ENST00000554021.1_Splice_Site|SRSF5_ENST00000556587.1_Splice_Site|SRSF5_ENST00000451983.2_Splice_Site|SRSF5_ENST00000555349.1_Splice_Site|SRSF5_ENST00000553548.1_Splice_Site|SRSF5_ENST00000557154.1_Splice_Site|SRSF5_ENST00000394366.2_Splice_Site			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		large_intestine(1)|liver(1)	2						TAGTGAAAGGTGAGATTCCTG	0.403																																						dbGAP											1	Unknown(1)	liver(1)											216.0	206.0	210.0					14																	70235393		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.197+2T>G	14.37:g.70235393T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O14797|Q16662|Q49AD6|Q6FGE0	Splice_Site	SNP	-	e2+2	ENST00000553521.1	37	c.197+2	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	T	3.494	-0.103162	0.06967	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	.	.	.	4.36	0.0321	0.14174	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4012	0.11388	0.2822:0.0972:0.0:0.6206	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF5	69305146	1.000000	0.71417	0.033000	0.17914	0.654000	0.38779	5.133000	0.64764	0.014000	0.14944	0.533000	0.62120	.	SRSF5	-	-	ENSG00000100650		0.403	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	99	0.00	0	T	NM_001039465	Intron	70235393	70235393	+1	no_errors	ENST00000451983	ensembl	human	known	69_37n	splice_site	58	20.55	15	SNP	0.231	G
SS18	6760	genome.wustl.edu	37	18	23618527	23618527	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:23618527T>G	ENST00000415083.2	-	7	927	c.872A>C	c.(871-873)tAc>tCc	p.Y291S	SS18_ENST00000545952.1_Missense_Mutation_p.Y239S|SS18_ENST00000539849.1_Missense_Mutation_p.Y209S|SS18_ENST00000269137.7_Missense_Mutation_p.Y291S|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542743.1_Missense_Mutation_p.Y239S|SS18_ENST00000542420.2_Missense_Mutation_p.Y268S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	291	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ACCATCAGGGTAATATTGCTG	0.438			T	"""SSX1,  SSX2"""	synovial sarcoma																																	dbGAP		Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	0													189.0	177.0	181.0					18																	23618527		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.872A>C	18.37:g.23618527T>G	ENSP00000414516:p.Tyr291Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	pfam_SSXT	p.Y291S	ENST00000415083.2	37	c.872	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713486	0.68730	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.48836	0.84;1.36;0.8;1.32;0.8	5.66	5.66	0.87406	.	0.396225	0.28821	N	0.014029	T	0.43366	0.1244	L	0.42245	1.32	0.51482	D	0.999922	B;B;B	0.33694	0.421;0.281;0.245	B;B;B	0.33454	0.059;0.041;0.164	T	0.36939	-0.9727	10	0.45353	T	0.12	-0.4092	16.1922	0.82000	0.0:0.0:0.0:1.0	.	239;291;291	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	294;291;291;268;239;209;239;6	ENSP00000269137:Y291S;ENSP00000438066:Y268S;ENSP00000444551:Y239S;ENSP00000444647:Y209S;ENSP00000443097:Y239S	ENSP00000269137:Y291S	Y	-	2	0	SS18	21872525	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	5.169000	0.64984	2.280000	0.76307	0.533000	0.62120	TAC	SS18	-	NULL	ENSG00000141380		0.438	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	HGNC	protein_coding	OTTHUMT00000446226.1	293	0.00	0	T			23618527	23618527	-1	no_errors	ENST00000415083	ensembl	human	known	69_37n	missense	153	14.53	26	SNP	1.000	G
SSFA2	6744	genome.wustl.edu	37	2	182780671	182780671	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:182780671A>C	ENST00000431877.2	+	11	2483	c.2304A>C	c.(2302-2304)ccA>ccC	p.P768P	SSFA2_ENST00000428267.2_Silent_p.P615P|SSFA2_ENST00000409136.1_Silent_p.P277P|SSFA2_ENST00000409001.1_Silent_p.P768P|SSFA2_ENST00000320370.7_Silent_p.P768P	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	768						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GATGCAGCCCACCTTCCTTCA	0.453																																						dbGAP											0													70.0	64.0	66.0					2																	182780671		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2304A>C	2.37:g.182780671A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	NULL	p.P768	ENST00000431877.2	37	c.2304	CCDS46467.1	2																																																																																			SSFA2	-	NULL	ENSG00000138434		0.453	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	273	0.36	1	A	NM_006751		182780671	182780671	+1	no_errors	ENST00000431877	ensembl	human	known	69_37n	silent	302	12.17	42	SNP	0.992	C
SSX5	6758	genome.wustl.edu	37	X	48054501	48054501	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48054501A>C	ENST00000376923.1	-	2	69				SSX5_ENST00000311798.1_Missense_Mutation_p.V45G|SSX5_ENST00000347757.1_Intron			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTCTCTTCCCACCTTCCAGAA	0.532																																						dbGAP											0													75.0	66.0	69.0					X																	48054501		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.70-211T>G	X.37:g.48054501A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.V45G	ENST00000376923.1	37	c.134	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	N	11.41	1.631134	0.28978	.	.	ENSG00000165583	ENST00000311798	T	0.10573	2.86	1.4	-2.17	0.07059	.	.	.	.	.	T	0.12518	0.0304	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.16988	-1.0384	8	0.07482	T	0.82	.	1.9073	0.03280	0.3917:0.3048:0.0:0.3035	.	45	O60225-2	.	G	45	ENSP00000312415:V45G	ENSP00000312415:V45G	V	-	2	0	SSX5	47939445	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.009000	0.13219	-0.596000	0.05821	0.143000	0.16000	GTG	SSX5	-	NULL	ENSG00000165583		0.532	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	131	0.00	0	A	NM_021015		48054501	48054501	-1	no_errors	ENST00000311798	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	0.000	C
ST5	6764	genome.wustl.edu	37	11	8718180	8718180	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:8718180A>C	ENST00000534127.1	-	21	3471	c.3086T>G	c.(3085-3087)gTg>gGg	p.V1029G	ST5_ENST00000357665.1_Missense_Mutation_p.V1029G|ST5_ENST00000526757.1_Missense_Mutation_p.V609G|ST5_ENST00000530991.1_Missense_Mutation_p.V501G|ST5_ENST00000313726.6_Missense_Mutation_p.V1029G|RPL27A_ENST00000531102.1_Intron|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_Missense_Mutation_p.V220G|ST5_ENST00000530438.1_Missense_Mutation_p.V609G|ST5_ENST00000526099.1_Missense_Mutation_p.V542G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1029	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCGGATAAACACCTCCGACAC	0.512																																						dbGAP											0													151.0	168.0	162.0					11																	8718180		2201	4296	6497	-	-	-	SO:0001583	missense	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3086T>G	11.37:g.8718180A>C	ENSP00000433528:p.Val1029Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V1029G	ENST00000534127.1	37	c.3086	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278382	0.59758	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	6.17	6.17	0.99709	dDENN (3);	0.054683	0.64402	D	0.000001	T	0.40932	0.1137	N	0.14661	0.345	0.80722	D	1	B;B;B	0.26318	0.146;0.001;0.013	B;B;B	0.36766	0.232;0.007;0.065	T	0.40757	-0.9546	10	0.72032	D	0.01	-13.8509	16.8222	0.85835	1.0:0.0:0.0:0.0	.	542;609;1029	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	G	609;1029;1029;501;1029;542;220;609	ENSP00000435097:V609G;ENSP00000433528:V1029G;ENSP00000319678:V1029G;ENSP00000432887:V501G;ENSP00000350294:V1029G;ENSP00000436808:V542G;ENSP00000433349:V220G;ENSP00000436802:V609G	ENSP00000319678:V1029G	V	-	2	0	ST5	8674756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.882000	0.75589	2.371000	0.80710	0.533000	0.62120	GTG	ST5	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000166444		0.512	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	685	0.58	4	A	NM_005418		8718180	8718180	-1	no_errors	ENST00000313726	ensembl	human	known	69_37n	missense	502	14.89	88	SNP	1.000	C
ST6GALNAC1	55808	genome.wustl.edu	37	17	74623528	74623528	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:74623528T>G	ENST00000156626.7	-	3	1168	c.969A>C	c.(967-969)ccA>ccC	p.P323P	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	323					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCCAAAGGGTGGTGCAAAGT	0.592																																						dbGAP											0													129.0	108.0	115.0					17																	74623528		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.969A>C	17.37:g.74623528T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.P323	ENST00000156626.7	37	c.969	CCDS11748.1	17																																																																																			ST6GALNAC1	-	pfam_Glyco_trans_29	ENSG00000070526		0.592	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	106	0.93	1	T	NM_018414		74623528	74623528	-1	no_errors	ENST00000156626	ensembl	human	known	69_37n	silent	62	22.50	18	SNP	0.200	G
ST6GALNAC3	256435	genome.wustl.edu	37	1	77093168	77093168	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:77093168T>G	ENST00000328299.3	+	4	803	c.655T>G	c.(655-657)Tgg>Ggg	p.W219G		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	219					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CAGCACAGGGTGGTTTACCTT	0.413																																						dbGAP											0													224.0	208.0	213.0					1																	77093168		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.655T>G	1.37:g.77093168T>G	ENSP00000329214:p.Trp219Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.W219G	ENST00000328299.3	37	c.655	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517455	0.64634	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	T	0.28666	1.6	5.75	5.75	0.90469	.	0.136437	0.53938	D	0.000058	T	0.46073	0.1374	M	0.67569	2.06	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.50398	-0.8833	10	0.87932	D	0	-7.8098	14.6186	0.68569	0.0:0.0:0.0:1.0	.	219	Q8NDV1	SIA7C_HUMAN	G	219;218	ENSP00000329214:W219G	ENSP00000329214:W219G	W	+	1	0	ST6GALNAC3	76865756	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	7.698000	0.84413	2.193000	0.70182	0.528000	0.53228	TGG	ST6GALNAC3	-	pfam_Glyco_trans_29	ENSG00000184005		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	253	0.00	0	T	NM_152996		77093168	77093168	+1	no_errors	ENST00000328299	ensembl	human	known	69_37n	missense	156	14.29	26	SNP	1.000	G
STAB2	55576	genome.wustl.edu	37	12	104054533	104054533	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:104054533A>C	ENST00000388887.2	+	17	2065	c.1861A>C	c.(1861-1863)Acc>Ccc	p.T621P	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTCAACACCACCGACAATGT	0.453																																						dbGAP											0													201.0	163.0	176.0					12																	104054533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1861A>C	12.37:g.104054533A>C	ENSP00000373539:p.Thr621Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.T621P	ENST00000388887.2	37	c.1861	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112687	0.56398	.	.	ENSG00000136011	ENST00000388887	D	0.91068	-2.78	5.63	3.23	0.37069	FAS1 domain (5);	0.184196	0.45126	D	0.000398	D	0.93566	0.7946	M	0.80746	2.51	0.09310	N	1	D	0.58620	0.983	P	0.60012	0.867	D	0.87067	0.2157	10	0.59425	D	0.04	.	9.9304	0.41519	0.8598:0.0:0.1402:0.0	.	621	Q8WWQ8	STAB2_HUMAN	P	621	ENSP00000373539:T621P	ENSP00000373539:T621P	T	+	1	0	STAB2	102578663	0.182000	0.23173	0.001000	0.08648	0.008000	0.06430	4.136000	0.58004	0.400000	0.25396	-0.256000	0.11100	ACC	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	140	0.00	0	A			104054533	104054533	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	104	19.38	25	SNP	0.031	C
STAB2	55576	genome.wustl.edu	37	12	104121095	104121095	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:104121095A>C	ENST00000388887.2	+	47	5106	c.4902A>C	c.(4900-4902)gcA>gcC	p.A1634A		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGTTTTTGCACCTTTATCTG	0.537																																						dbGAP											0													232.0	220.0	224.0					12																	104121095		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4902A>C	12.37:g.104121095A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.A1634	ENST00000388887.2	37	c.4902	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.537	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	360	0.55	2	A			104121095	104121095	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	silent	311	13.46	49	SNP	0.450	C
STAT1	6772	genome.wustl.edu	37	2	191844522	191844522	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:191844522T>G	ENST00000361099.3	-	20	2090	c.1703A>C	c.(1702-1704)cAc>cCc	p.H568P	STAT1_ENST00000392323.2_Missense_Mutation_p.H570P|STAT1_ENST00000392322.3_Missense_Mutation_p.H568P|STAT1_ENST00000409465.1_Missense_Mutation_p.H568P|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	568					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AGGGAGCAGGTGTTTTTTAAT	0.383																																						dbGAP											0													100.0	103.0	102.0					2																	191844522		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1703A>C	2.37:g.191844522T>G	ENSP00000354394:p.His568Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.H568P	ENST00000361099.3	37	c.1703	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534739	0.64972	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.73	5.73	0.89815	p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.041245	0.85682	D	0.000000	D	0.89322	0.6682	M	0.87097	2.86	0.80722	D	1	P;P	0.51147	0.942;0.841	P;P	0.56612	0.802;0.627	D	0.91132	0.4938	10	0.87932	D	0	-36.4389	16.3123	0.82883	0.0:0.0:0.0:1.0	.	568;568	P42224-2;P42224	.;STAT1_HUMAN	P	568;568;568;570	ENSP00000354394:H568P;ENSP00000386244:H568P;ENSP00000376136:H568P;ENSP00000376137:H570P	ENSP00000354394:H568P	H	-	2	0	STAT1	191552767	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	CAC	STAT1	-	superfamily_p53-like_TF_DNA-bd	ENSG00000115415		0.383	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	100	0.98	1	T	NM_007315		191844522	191844522	-1	no_errors	ENST00000361099	ensembl	human	known	69_37n	missense	59	25.32	20	SNP	1.000	G
STAT2	6773	genome.wustl.edu	37	12	56744935	56744935	+	Silent	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56744935A>G	ENST00000314128.4	-	10	1004	c.981T>C	c.(979-981)acT>acC	p.T327T	STAT2_ENST00000557235.1_Silent_p.T323T|STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Silent_p.T323T			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	327					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTCGATGGGGAGTTTGGGGCA	0.512																																						dbGAP											0													122.0	122.0	122.0					12																	56744935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.981T>C	12.37:g.56744935A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.T327	ENST00000314128.4	37	c.981	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000170581		0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	219	0.90	2	A	NM_005419		56744935	56744935	-1	no_errors	ENST00000314128	ensembl	human	known	69_37n	silent	279	13.04	42	SNP	0.944	G
STAT2	6773	genome.wustl.edu	37	12	56745052	56745052	+	Intron	SNP	A	A	C	rs200430739	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:56745052A>C	ENST00000314128.4	-	9	965				STAT2_ENST00000557235.1_Intron|STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCTTTCCCCCAGGGTTCCTGC	0.542																																						dbGAP											0													150.0	152.0	151.0					12																	56745052		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.941+23T>G	12.37:g.56745052A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	RNA	SNP	-	NULL	ENST00000314128.4	37	NULL	CCDS8917.1	12																																																																																			STAT2	-	-	ENSG00000170581		0.542	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	391	0.76	3	A	NM_005419		56745052	56745052	-1	no_errors	ENST00000557156	ensembl	human	putative	69_37n	rna	557	10.87	71	SNP	0.000	C
STAT6	6778	genome.wustl.edu	37	12	57492848	57492848	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57492848A>C	ENST00000300134.3	-	17	2230	c.1905T>G	c.(1903-1905)ggT>ggG	p.G635G	STAT6_ENST00000543873.2_Silent_p.G635G|STAT6_ENST00000454075.3_Silent_p.G635G|STAT6_ENST00000556155.1_Silent_p.G635G|STAT6_ENST00000538913.2_Silent_p.G525G|STAT6_ENST00000537215.2_Silent_p.G525G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	635					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TGCCATCCTTACCCATCTGTT	0.532																																						dbGAP											0													234.0	193.0	207.0					12																	57492848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1905T>G	12.37:g.57492848A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.G635	ENST00000300134.3	37	c.1905	CCDS8931.1	12																																																																																			STAT6	-	NULL	ENSG00000166888		0.532	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	214	0.00	0	A	NM_003153		57492848	57492848	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	silent	149	15.34	27	SNP	0.817	C
STAU1	6780	genome.wustl.edu	37	20	47782549	47782549	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:47782549T>G	ENST00000371856.2	-	3	600	c.190A>C	c.(190-192)Acc>Ccc	p.T64P	STAU1_ENST00000371802.1_Intron|STAU1_ENST00000371792.1_Intron|STAU1_ENST00000360426.4_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000340954.7_Intron|STAU1_ENST00000371828.3_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	64					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCTGCACTGGTGGATGTAATA	0.423																																						dbGAP											0													172.0	177.0	175.0					20																	47782549		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.190A>C	20.37:g.47782549T>G	ENSP00000360922:p.Thr64Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.T64P	ENST00000371856.2	37	c.190	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526601	0.27299	.	.	ENSG00000124214	ENST00000371856	T	0.34275	1.37	5.85	3.51	0.40186	Double-stranded RNA-binding-like (1);	0.287715	0.39985	N	0.001214	T	0.19525	0.0469	N	0.14661	0.345	0.80722	D	1	B	0.22604	0.072	B	0.25884	0.064	T	0.05971	-1.0853	10	0.26408	T	0.33	-3.578	6.6432	0.22921	0.1394:0.0781:0.0:0.7824	.	64	O95793	STAU1_HUMAN	P	64	ENSP00000360922:T64P	ENSP00000360922:T64P	T	-	1	0	STAU1	47215956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.545000	0.45769	0.435000	0.26365	0.533000	0.62120	ACC	STAU1	-	NULL	ENSG00000124214		0.423	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	106	0.00	0	T	NM_017453		47782549	47782549	-1	no_errors	ENST00000371856	ensembl	human	known	69_37n	missense	93	18.26	21	SNP	1.000	G
STIM1	6786	genome.wustl.edu	37	11	4112661	4112661	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:4112661A>C	ENST00000300737.4	+	12	2260	c.1691A>C	c.(1690-1692)cAc>cCc	p.H564P	STIM1_ENST00000533977.1_Missense_Mutation_p.H391P|STIM1_ENST00000527651.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	564					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGGGGTCCACCCAGGGTCT	0.622																																						dbGAP											0													42.0	46.0	45.0					11																	4112661		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1691A>C	11.37:g.4112661A>C	ENSP00000300737:p.His564Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQJ4|Q8N382	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.H564P	ENST00000300737.4	37	c.1691	CCDS7749.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.48|14.48	2.547080|2.547080	0.45383|0.45383	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000300737;ENST00000533977|ENST00000526596	T;T|.	0.41400|.	1.0;1.0|.	5.26|5.26	2.87|2.87	0.33458|0.33458	.|.	0.420263|.	0.25561|.	N|.	0.029828|.	T|T	0.17492|0.17492	0.0420|0.0420	N|N	0.02011|0.02011	-0.69|-0.69	0.40834|0.40834	D|D	0.983615|0.983615	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.10613|0.10613	-1.0622|-1.0622	10|5	0.29301|.	T|.	0.29|.	-5.6292|-5.6292	3.7424|3.7424	0.08536|0.08536	0.7114:0.0:0.0994:0.1893|0.7114:0.0:0.0994:0.1893	.|.	564|.	Q13586|.	STIM1_HUMAN|.	P|P	564;391|326	ENSP00000300737:H564P;ENSP00000434767:H391P|.	ENSP00000300737:H564P|.	H|T	+|+	2|1	0|0	STIM1|STIM1	4069237|4069237	0.951000|0.951000	0.32395|0.32395	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.286000|2.286000	0.43496|0.43496	2.125000|2.125000	0.65367|0.65367	0.533000|0.533000	0.62120|0.62120	CAC|ACC	STIM1	-	NULL	ENSG00000167323		0.622	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIM1	HGNC	protein_coding	OTTHUMT00000257196.1	78	0.00	0	A	NM_003156		4112661	4112661	+1	no_errors	ENST00000300737	ensembl	human	known	69_37n	missense	132	18.29	30	SNP	0.998	C
STK10	6793	genome.wustl.edu	37	5	171520587	171520587	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:171520587A>C	ENST00000176763.5	-	9	1726	c.1383T>G	c.(1381-1383)ggT>ggG	p.G461G	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	461					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTCTCCCCACCCAAGGTCT	0.647																																						dbGAP											0													51.0	56.0	54.0					5																	171520587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1383T>G	5.37:g.171520587A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	pfam_PKK,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,pfscan_Prot_kinase_cat_dom	p.G461	ENST00000176763.5	37	c.1383	CCDS34290.1	5																																																																																			STK10	-	NULL	ENSG00000072786		0.647	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	82	0.00	0	A	NM_005990		171520587	171520587	-1	no_errors	ENST00000176763	ensembl	human	known	69_37n	silent	90	19.47	22	SNP	0.000	C
STK31	56164	genome.wustl.edu	37	7	23826161	23826161	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:23826161T>G	ENST00000355870.3	+	19	2428	c.2309T>G	c.(2308-2310)gTg>gGg	p.V770G	STK31_ENST00000428484.1_Missense_Mutation_p.V747G|STK31_ENST00000433467.2_Missense_Mutation_p.V770G|STK31_ENST00000354639.3_Missense_Mutation_p.V747G|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAAGCCAAGGTGATTGAGAGA	0.408																																						dbGAP											0													109.0	98.0	102.0					7																	23826161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2309T>G	7.37:g.23826161T>G	ENSP00000348132:p.Val770Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.V770G	ENST00000355870.3	37	c.2309	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031316	0.75504	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.73469	-0.75;1.08;-0.75;-0.75	5.18	5.18	0.71444	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.077668	0.51477	D	0.000093	D	0.83922	0.5359	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	D	0.85716	0.1322	10	0.66056	D	0.02	-9.648	14.6799	0.69009	0.0:0.0:0.0:1.0	.	770;770	B4DZ06;Q9BXU1	.;STK31_HUMAN	G	770;770;747;747	ENSP00000348132:V770G;ENSP00000411852:V770G;ENSP00000346660:V747G;ENSP00000406146:V747G	ENSP00000346660:V747G	V	+	2	0	STK31	23792686	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.231000	0.58639	1.958000	0.56883	0.402000	0.26972	GTG	STK31	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000196335		0.408	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	123	0.81	1	T	NM_031414		23826161	23826161	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	missense	91	26.40	33	SNP	1.000	G
STK38	11329	genome.wustl.edu	37	6	36507921	36507921	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:36507921A>C	ENST00000229812.7	-	2	344	c.59T>G	c.(58-60)gTg>gGg	p.V20G		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTCATTGTCACCCTTTCCTT	0.393																																					Colon(180;997 3561 16158)	dbGAP											0													287.0	270.0	276.0					6																	36507921		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.59T>G	6.37:g.36507921A>C	ENSP00000229812:p.Val20Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.V20G	ENST00000229812.7	37	c.59	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812284	0.70912	.	.	ENSG00000112079	ENST00000229812	T	0.60171	0.21	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	M	0.82056	2.57	0.80722	D	1	P	0.41748	0.761	B	0.43082	0.407	T	0.56823	-0.7915	10	0.29301	T	0.29	.	15.5485	0.76129	1.0:0.0:0.0:0.0	.	20	Q15208	STK38_HUMAN	G	20	ENSP00000229812:V20G	ENSP00000229812:V20G	V	-	2	0	STK38	36615899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.905000	0.92613	2.154000	0.67381	0.477000	0.44152	GTG	STK38	-	NULL	ENSG00000112079		0.393	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	256	0.00	0	A	NM_007271		36507921	36507921	-1	no_errors	ENST00000229812	ensembl	human	known	69_37n	missense	191	10.75	23	SNP	1.000	C
STRN	6801	genome.wustl.edu	37	2	37129880	37129880	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:37129880A>C	ENST00000263918.4	-	5	514	c.506T>G	c.(505-507)gTg>gGg	p.V169G	STRN_ENST00000379213.2_Missense_Mutation_p.V157G	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	169					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGTATAACCCACCTCCTGTAG	0.348																																						dbGAP											0													136.0	136.0	136.0					2																	37129880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.506T>G	2.37:g.37129880A>C	ENSP00000263918:p.Val169Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V169G	ENST00000263918.4	37	c.506	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974912	0.74360	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.73152	-0.72;-0.66	5.25	5.25	0.73442	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.983	D	0.85385	0.1122	10	0.49607	T	0.09	-10.5164	15.182	0.72965	1.0:0.0:0.0:0.0	.	157;169	O43815-2;O43815	.;STRN_HUMAN	G	169;144;157	ENSP00000263918:V169G;ENSP00000368513:V157G	ENSP00000263918:V169G	V	-	2	0	STRN	36983384	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.259000	0.89855	1.981000	0.57761	0.533000	0.62120	GTG	STRN	-	pfam_Striatin_N	ENSG00000115808		0.348	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	325	0.00	0	A			37129880	37129880	-1	no_errors	ENST00000263918	ensembl	human	known	69_37n	missense	160	16.67	32	SNP	1.000	C
STK39	27347	genome.wustl.edu	37	2	168986078	168986078	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:168986078T>G	ENST00000355999.4	-	10	1767	c.1062A>C	c.(1060-1062)acA>acC	p.T354T		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	354					cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CTATGTCTGGTGTTCTTGTAA	0.393																																						dbGAP											0													316.0	288.0	297.0					2																	168986078		1897	4117	6014	-	-	-	SO:0001819	synonymous_variant	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.1062A>C	2.37:g.168986078T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T354	ENST00000355999.4	37	c.1062	CCDS42770.1	2																																																																																			STK39	-	superfamily_Kinase-like_dom	ENSG00000198648		0.393	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	315	0.00	0	T	NM_013233		168986078	168986078	-1	no_errors	ENST00000355999	ensembl	human	known	69_37n	silent	296	10.84	36	SNP	0.998	G
STT3B	201595	genome.wustl.edu	37	3	31667447	31667447	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:31667447T>G	ENST00000295770.2	+	13	2110	c.1901T>G	c.(1900-1902)gTg>gGg	p.V634G		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	634					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ATTCTGCAGGTGGGAAAAGCT	0.303																																						dbGAP											0													118.0	117.0	118.0					3																	31667447		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1900-1T>G	3.37:g.31667447T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JZ4|Q96KY7	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.V634G	ENST00000295770.2	37	c.1901	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734806	0.69189	.	.	ENSG00000163527	ENST00000295770	D	0.90324	-2.65	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.96741	0.8936	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97971	1.0343	10	0.87932	D	0	-12.8488	15.4706	0.75437	0.0:0.0:0.0:1.0	.	634	Q8TCJ2	STT3B_HUMAN	G	634	ENSP00000295770:V634G	ENSP00000295770:V634G	V	+	2	0	STT3B	31642451	1.000000	0.71417	0.983000	0.44433	0.640000	0.38277	7.986000	0.88173	2.132000	0.65825	0.402000	0.26972	GTG	STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.303	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	166	0.60	1	T	NM_178862	Missense_Mutation	31667447	31667447	+1	no_errors	ENST00000295770	ensembl	human	known	69_37n	missense	168	13.71	27	SNP	1.000	G
STX19	415117	genome.wustl.edu	37	3	93734016	93734016	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:93734016A>C	ENST00000315099.2	-	2	354	c.98T>G	c.(97-99)gTg>gGg	p.V33G	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	33					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						CTGTAGAAACACCCCTTGTTC	0.383																																						dbGAP											0													133.0	125.0	128.0					3																	93734016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.98T>G	3.37:g.93734016A>C	ENSP00000320679:p.Val33Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.V33G	ENST00000315099.2	37	c.98	CCDS33793.1	3	.	.	.	.	.	.	.	.	.	.	A	1.193	-0.634787	0.03584	.	.	ENSG00000178750	ENST00000315099	T	0.44482	0.92	4.05	-2.03	0.07365	.	0.621074	0.15654	N	0.251232	T	0.16685	0.0401	N	0.08118	0	0.19300	N	0.99998	B	0.09022	0.002	B	0.09377	0.004	T	0.13710	-1.0499	10	0.25751	T	0.34	-0.5675	4.6891	0.12772	0.2791:0.0:0.3215:0.3994	.	33	Q8N4C7	STX19_HUMAN	G	33	ENSP00000320679:V33G	ENSP00000320679:V33G	V	-	2	0	STX19	95216706	0.002000	0.14202	0.000000	0.03702	0.227000	0.25037	0.258000	0.18387	-0.438000	0.07232	0.482000	0.46254	GTG	STX19	-	NULL	ENSG00000178750		0.383	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX19	HGNC	protein_coding	OTTHUMT00000352909.1	156	0.00	0	A	NM_001001850		93734016	93734016	-1	no_errors	ENST00000315099	ensembl	human	known	69_37n	missense	170	12.82	25	SNP	0.009	C
SUCO	51430	genome.wustl.edu	37	1	172501640	172501640	+	5'Flank	SNP	C	C	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:172501640C>G	ENST00000263688.3	+	0	0				SUCO_ENST00000608151.1_Missense_Mutation_p.L10V|SUCO_ENST00000610051.1_5'Flank|SUCO_ENST00000367723.4_Missense_Mutation_p.L10V	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor						multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ACGCCCCTTTCTATCTACCAA	0.502																																						dbGAP											0													49.0	49.0	49.0					1																	172501640		1918	4128	6046	-	-	-	SO:0001631	upstream_gene_variant	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839		1.37:g.172501640C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L10V	ENST00000263688.3	37	c.28	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364346	0.11296	.	.	ENSG00000094975	ENST00000367723	.	.	.	4.33	1.4	0.22301	.	0.937914	0.08735	N	0.901410	T	0.07908	0.0198	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.39603	-0.9606	6	0.22706	T	0.39	.	3.7754	0.08657	0.1923:0.6014:0.0:0.2062	.	.	.	.	V	10	.	ENSP00000356696:L10V	L	+	1	2	C1orf9	170768263	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.113000	0.15499	0.196000	0.20367	-0.230000	0.12252	CTA	SUCO	-	NULL	ENSG00000094975		0.502	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	52	0.00	0	C	NM_016227		172501640	172501640	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	81	11.96	11	SNP	0.000	G
SUCO	51430	genome.wustl.edu	37	1	172558233	172558233	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:172558233A>C	ENST00000263688.3	+	18	2211	c.1992A>C	c.(1990-1992)ccA>ccC	p.P664P	SUCO_ENST00000608151.1_Silent_p.P816P|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Silent_p.P815P	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	664					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAGCTCAACCACCCTTACTAC	0.398																																						dbGAP											0													88.0	89.0	88.0					1																	172558233		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1992A>C	1.37:g.172558233A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.P816	ENST00000263688.3	37	c.2448	CCDS1303.1	1																																																																																			SUCO	-	NULL	ENSG00000094975		0.398	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	160	0.00	0	A	NM_016227		172558233	172558233	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	silent	211	10.92	26	SNP	0.799	C
SULT1C2	6819	genome.wustl.edu	37	2	108910797	108910797	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:108910797A>C	ENST00000437390.2	+	3	441	c.264A>C	c.(262-264)ccA>ccC	p.P88P	SULT1C2_ENST00000409880.1_Silent_p.P88P|SULT1C2_ENST00000326853.5_Silent_p.P88P|SULT1C2_ENST00000251481.6_Silent_p.P88P			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	94					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGGCTCGGCCACCCCAACCTT	0.502																																						dbGAP											0													128.0	119.0	122.0					2																	108910797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.264A>C	2.37:g.108910797A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.T86P	ENST00000437390.2	37	c.256		2	.	.	.	.	.	.	.	.	.	.	A	11.56	1.676320	0.29783	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.87	-7.2	0.01495	.	.	.	.	.	T	0.37128	0.0992	.	.	.	0.36854	D	0.888058	.	.	.	.	.	.	T	0.41520	-0.9504	4	.	.	.	.	4.4314	0.11529	0.1997:0.2325:0.4537:0.114	.	.	.	.	P	85	.	.	T	+	1	0	SULT1C2	108277229	0.000000	0.05858	0.180000	0.23079	0.709000	0.40893	-2.068000	0.01382	-1.360000	0.02172	-0.313000	0.08912	ACC	SULT1C2	-	NULL	ENSG00000198203		0.502	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	HGNC	protein_coding	OTTHUMT00000329969.2	231	0.00	0	A	NM_176825		108910797	108910797	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442801	ensembl	human	known	69_37n	missense	217	18.28	49	SNP	0.008	C
SUPT5H	6829	genome.wustl.edu	37	19	39962019	39962019	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:39962019T>G	ENST00000599117.1	+	20	2067	c.1700T>G	c.(1699-1701)gTg>gGg	p.V567G	SUPT5H_ENST00000359191.6_Missense_Mutation_p.V563G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V563G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V567G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V567G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	567					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACGGGAAGGTGGTGACTGTC	0.562																																						dbGAP											0													153.0	119.0	131.0					19																	39962019		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1700T>G	19.37:g.39962019T>G	ENSP00000470252:p.Val567Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.V567G	ENST00000599117.1	37	c.1700	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394870	0.83011	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	M	0.90759	3.145	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.992	D;D;D	0.71870	0.927;0.975;0.944	D	0.87459	0.2406	8	.	.	.	-19.7133	14.8331	0.70162	0.0:0.0:0.0:1.0	.	359;563;567	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	G	567;563;545;567	.	.	V	+	2	0	SUPT5H	44653859	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.810000	0.86072	2.137000	0.66172	0.460000	0.39030	GTG	SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.562	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	135	0.74	1	T	NM_003169		39962019	39962019	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	missense	89	15.24	16	SNP	1.000	G
SUPT6H	6830	genome.wustl.edu	37	17	27023950	27023950	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:27023950T>G	ENST00000314616.6	+	30	4342	c.4059T>G	c.(4057-4059)ggT>ggG	p.G1353G	SUPT6H_ENST00000347486.4_Silent_p.G1353G	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1353	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGACCAGGGTGATGTGATTA	0.498																																						dbGAP											0													169.0	140.0	150.0					17																	27023950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4059T>G	17.37:g.27023950T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.G1353	ENST00000314616.6	37	c.4059	CCDS32596.1	17																																																																																			SUPT6H	-	pfam_SH2,smart_SH2,pirsf_TF_Spt6,pfscan_SH2	ENSG00000109111		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	263	0.00	0	T	NM_003170		27023950	27023950	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	silent	201	15.48	37	SNP	0.998	G
SUSD4	55061	genome.wustl.edu	37	1	223402709	223402709	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:223402709A>C	ENST00000343846.3	-	5	1379	c.746T>G	c.(745-747)gTg>gGg	p.V249G	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V89G|SUSD4_ENST00000494793.2_Missense_Mutation_p.V249G|SUSD4_ENST00000484758.2_Missense_Mutation_p.V180G|SUSD4_ENST00000366878.4_Missense_Mutation_p.V249G			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	249	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TCCGTGACTCACCATTGGAGG	0.537																																						dbGAP											0													55.0	60.0	58.0					1																	223402709		2092	4235	6327	-	-	-	SO:0001583	missense	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.746T>G	1.37:g.223402709A>C	ENSP00000344219:p.Val249Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V249G	ENST00000343846.3	37	c.746	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070941	0.55646	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.68331	-0.32;-0.32;-0.32	5.61	5.61	0.85477	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.42821	D	0.000649	T	0.56601	0.1996	N	0.22421	0.69	0.80722	D	1	B	0.21606	0.058	B	0.24701	0.055	T	0.56420	-0.7982	10	0.72032	D	0.01	-11.1579	15.8076	0.78527	1.0:0.0:0.0:0.0	.	249	Q5VX71	SUSD4_HUMAN	G	249;249;180;89	ENSP00000344219:V249G;ENSP00000355843:V249G;ENSP00000399288:V89G	ENSP00000344219:V249G	V	-	2	0	SUSD4	221469332	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.495000	0.73665	2.141000	0.66446	0.533000	0.62120	GTG	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000143502		0.537	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	51	0.00	0	A	NM_017982		223402709	223402709	-1	no_errors	ENST00000343846	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	1.000	C
SVEP1	79987	genome.wustl.edu	37	9	113169375	113169375	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113169375T>G	ENST00000401783.2	-	38	8841	c.8505A>C	c.(8503-8505)tcA>tcC	p.S2835S	SVEP1_ENST00000297826.5_Silent_p.S761S|SVEP1_ENST00000374469.1_Silent_p.S2812S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2835	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACTGGGGGTGAACTGCAGT	0.502																																						dbGAP											0													107.0	107.0	107.0					9																	113169375		2033	4192	6225	-	-	-	SO:0001819	synonymous_variant	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8505A>C	9.37:g.113169375T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S2835	ENST00000401783.2	37	c.8505	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	0.090	-1.169509	0.01660	.	.	ENSG00000165124	ENST00000374463	.	.	.	5.52	1.7	0.24286	.	.	.	.	.	T	0.43211	0.1237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12400	-1.0549	5	0.24483	T	0.36	.	4.8176	0.13374	0.1267:0.2071:0.0:0.6662	.	.	.	.	P	507	.	ENSP00000363587:H507P	H	-	2	0	SVEP1	112209196	0.088000	0.21588	0.998000	0.56505	0.251000	0.25915	-0.686000	0.05161	0.091000	0.17302	0.482000	0.46254	CAC	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		128	0.00	0	T			113169375	113169375	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	silent	114	19.58	28	SNP	0.983	G
SVEP1	79987	genome.wustl.edu	37	9	113194755	113194755	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113194755T>G	ENST00000401783.2	-	31	5556	c.5220A>C	c.(5218-5220)tcA>tcC	p.S1740S	SVEP1_ENST00000374469.1_Silent_p.S1717S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1740	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCAGGATGGTGAAACGCCGT	0.448																																						dbGAP											0													132.0	127.0	128.0					9																	113194755		1938	4131	6069	-	-	-	SO:0001819	synonymous_variant	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5220A>C	9.37:g.113194755T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S1740	ENST00000401783.2	37	c.5220	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.448	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		241	0.00	0	T			113194755	113194755	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	silent	169	13.64	27	SNP	0.970	G
SVEP1	79987	genome.wustl.edu	37	9	113312207	113312207	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:113312207T>G	ENST00000401783.2	-	2	1045	c.709A>C	c.(709-711)Acc>Ccc	p.T237P	SVEP1_ENST00000374461.1_Missense_Mutation_p.T214P|SVEP1_ENST00000374469.1_Missense_Mutation_p.T214P|SVEP1_ENST00000302728.8_Missense_Mutation_p.T237P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	237	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCTTTGGGGTGGAAGCCATG	0.488																																						dbGAP											0													96.0	91.0	92.0					9																	113312207		1940	4148	6088	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.709A>C	9.37:g.113312207T>G	ENSP00000384917:p.Thr237Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.T237P	ENST00000401783.2	37	c.709	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	8.441	0.850865	0.17034	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.38	-1.54	0.08584	von Willebrand factor, type A (3);	0.505931	0.22058	N	0.065207	T	0.57051	0.2027	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.001	T	0.41752	-0.9491	10	0.27785	T	0.31	.	2.9885	0.05975	0.086:0.2003:0.293:0.4207	.	237;237;237	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	237;214;237;214	ENSP00000384917:T237P;ENSP00000363593:T214P;ENSP00000304118:T237P;ENSP00000363585:T214P	ENSP00000304118:T237P	T	-	1	0	SVEP1	112352028	0.605000	0.26941	0.233000	0.24025	0.864000	0.49448	0.171000	0.16685	-0.816000	0.04340	-1.450000	0.01041	ACC	SVEP1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165124		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		130	0.00	0	T			113312207	113312207	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	100	14.88	18	SNP	0.119	G
SVIL	6840	genome.wustl.edu	37	10	29819585	29819585	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:29819585A>C	ENST00000355867.4	-	11	2809	c.2057T>G	c.(2056-2058)gTg>gGg	p.V686G	SVIL_ENST00000375398.2_Missense_Mutation_p.V686G|SVIL_ENST00000375400.3_Missense_Mutation_p.V292G	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	686					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCGTTCATCCACCTTTTCTTC	0.463																																						dbGAP											0													151.0	139.0	143.0					10																	29819585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2057T>G	10.37:g.29819585A>C	ENSP00000348128:p.Val686Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.V686G	ENST00000355867.4	37	c.2057	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951261	0.73787	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.52057	0.68;0.68;0.68	5.41	5.41	0.78517	.	0.190908	0.46758	D	0.000275	T	0.62780	0.2456	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59221	0.854;0.827	T	0.63743	-0.6568	9	.	.	.	-20.9496	15.7499	0.77976	1.0:0.0:0.0:0.0	.	292;686	O95425-2;O95425	.;SVIL_HUMAN	G	292;686;686	ENSP00000364549:V292G;ENSP00000364547:V686G;ENSP00000348128:V686G	.	V	-	2	0	SVIL	29859591	0.999000	0.42202	0.980000	0.43619	0.461000	0.32589	8.731000	0.91529	2.188000	0.69820	0.533000	0.62120	GTG	SVIL	-	NULL	ENSG00000197321		0.463	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	125	0.00	0	A			29819585	29819585	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	145	15.61	27	SNP	0.994	C
SYK	6850	genome.wustl.edu	37	9	93636990	93636990	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:93636990T>G	ENST00000375754.4	+	9	1188	c.1040T>G	c.(1039-1041)gTg>gGg	p.V347G	SYK_ENST00000375746.1_Missense_Mutation_p.V347G|SYK_ENST00000375751.4_Missense_Mutation_p.V324G|SYK_ENST00000375747.1_Missense_Mutation_p.V324G	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	347	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GACACAGAGGTGTACGAGAGC	0.582			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	dbGAP		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													150.0	163.0	159.0					9																	93636990		2203	4300	6503	-	-	-	SO:0001583	missense	0			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1040T>G	9.37:g.93636990T>G	ENSP00000364907:p.Val347Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V347G	ENST00000375754.4	37	c.1040	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954075	0.53293	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.73575	-0.75;-0.76;-0.76;-0.75	4.15	4.15	0.48705	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70227	0.968;0.93	T	0.77600	-0.2527	10	0.29301	T	0.29	.	13.642	0.62257	0.0:0.0:0.0:1.0	.	324;347	P43405-2;P43405	.;KSYK_HUMAN	G	347;324;324;347	ENSP00000364907:V347G;ENSP00000364904:V324G;ENSP00000364899:V324G;ENSP00000364898:V347G	ENSP00000364898:V347G	V	+	2	0	SYK	92676811	1.000000	0.71417	0.404000	0.26397	0.913000	0.54294	5.591000	0.67536	1.879000	0.54435	0.459000	0.35465	GTG	SYK	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70	ENSG00000165025		0.582	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	176	0.56	1	T			93636990	93636990	+1	no_errors	ENST00000375746	ensembl	human	known	69_37n	missense	156	16.58	31	SNP	1.000	G
SYNDIG1	79953	genome.wustl.edu	37	20	24646133	24646133	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:24646133A>C	ENST00000376862.3	+	4	1403	c.770A>C	c.(769-771)cAc>cCc	p.H257P		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	257					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AAGAACAACCACCTGTGAGCT	0.607																																						dbGAP											0													87.0	86.0	86.0					20																	24646133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.770A>C	20.37:g.24646133A>C	ENSP00000366058:p.His257Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.H257P	ENST00000376862.3	37	c.770	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	A	27.4	4.825596	0.90955	.	.	ENSG00000101463	ENST00000376862	D	0.94650	-3.48	5.74	5.74	0.90152	.	0.060720	0.64402	D	0.000003	D	0.94807	0.8323	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.95568	0.8635	10	0.87932	D	0	-47.5739	13.9908	0.64364	1.0:0.0:0.0:0.0	.	257	Q9H7V2	SYNG1_HUMAN	P	257	ENSP00000366058:H257P	ENSP00000366058:H257P	H	+	2	0	SYNDIG1	24594133	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.020000	0.93667	2.188000	0.69820	0.454000	0.30748	CAC	SYNDIG1	-	NULL	ENSG00000101463		0.607	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	115	0.00	0	A	NM_024893		24646133	24646133	+1	no_errors	ENST00000376862	ensembl	human	known	69_37n	missense	57	23.68	18	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152497560	152497560	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:152497560A>C	ENST00000367255.5	-	130	24197	c.23596T>G	c.(23596-23598)Tgg>Ggg	p.W7866G	SYNE1_ENST00000341594.5_Missense_Mutation_p.W7478G|SYNE1_ENST00000356820.4_Missense_Mutation_p.W2390G|SYNE1_ENST00000423061.1_Missense_Mutation_p.W7795G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.W7866G|SYNE1_ENST00000448038.1_Missense_Mutation_p.W7795G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7866					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGATGCTGCCACCGGTCGTTG	0.483										HNSCC(10;0.0054)																												dbGAP											0													258.0	249.0	252.0					6																	152497560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23596T>G	6.37:g.152497560A>C	ENSP00000356224:p.Trp7866Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.W7866G	ENST00000367255.5	37	c.23596	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274282	0.80580	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000049	T	0.77498	0.4139	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.80942	-0.1157	10	0.87932	D	0	.	16.0455	0.80717	1.0:0.0:0.0:0.0	.	7866;7866;7795;7795;68	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	G	7866;512;7795;7866;7795;7478;2390;28;788	ENSP00000356224:W7866G;ENSP00000356226:W512G;ENSP00000396024:W7795G;ENSP00000265368:W7866G;ENSP00000390975:W7795G;ENSP00000341887:W7478G;ENSP00000349276:W2390G;ENSP00000356220:W788G	ENSP00000265368:W7866G	W	-	1	0	SYNE1	152539253	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.173000	0.94815	2.189000	0.69895	0.460000	0.39030	TGG	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	338	0.29	1	A	NM_182961		152497560	152497560	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	277	12.06	38	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152688402	152688402	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:152688402T>G	ENST00000367255.5	-	62	10524	c.9923A>C	c.(9922-9924)cAc>cCc	p.H3308P	SYNE1_ENST00000341594.5_Missense_Mutation_p.H3347P|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3315P|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3308P|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3315P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3308					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATGTCGGGTGGCAGTATGA	0.448										HNSCC(10;0.0054)																												dbGAP											0													199.0	179.0	186.0					6																	152688402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9923A>C	6.37:g.152688402T>G	ENSP00000356224:p.His3308Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H3308P	ENST00000367255.5	37	c.9923	CCDS5236.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.040289|2.040289	0.35989|0.35989	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.51325|.	1.53;0.71;1.53;0.71;0.93|.	6.17|6.17	4.99|4.99	0.66335|0.66335	.|.	0.279636|.	0.30695|.	N|.	0.009080|.	T|T	0.48314|0.48314	0.1493|0.1493	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;P;P;P;P|.	0.37955|.	0.453;0.453;0.612;0.453;0.588|.	B;B;B;B;B|.	0.37480|.	0.127;0.127;0.222;0.127;0.251|.	T|T	0.47699|0.47699	-0.9097|-0.9097	10|5	0.24483|.	T|.	0.36|.	.|.	12.5281|12.5281	0.56098|0.56098	0.1284:0.0:0.0:0.8716|0.1284:0.0:0.0:0.8716	.|.	3308;3308;425;3308;3315|.	B7ZBC3;Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	.;SYNE1_HUMAN;.;.;.|.	P|P	3308;3315;3308;3315;3347|425	ENSP00000356224:H3308P;ENSP00000396024:H3315P;ENSP00000265368:H3308P;ENSP00000390975:H3315P;ENSP00000341887:H3347P|.	ENSP00000265368:H3308P|.	H|T	-|-	2|1	0|0	SYNE1|SYNE1	152730095|152730095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.466000|0.466000	0.32739|0.32739	2.851000|2.851000	0.48302|0.48302	1.110000|1.110000	0.41699|0.41699	0.533000|0.533000	0.62120|0.62120	CAC|ACC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	154	0.65	1	T	NM_182961		152688402	152688402	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	122	14.69	21	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64408624	64408624	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:64408624A>C	ENST00000344113.4	+	5	471	c.259A>C	c.(259-261)Acc>Ccc	p.T87P	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.T87P|SYNE2_ENST00000341472.5_Missense_Mutation_p.T87P|SYNE2_ENST00000356081.3_Missense_Mutation_p.T87P|SYNE2_ENST00000358025.3_Missense_Mutation_p.T87P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	87	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGATCTAATACCTTCCAGTG	0.313																																						dbGAP											0													83.0	80.0	81.0					14																	64408624		1806	4071	5877	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.259A>C	14.37:g.64408624A>C	ENSP00000341781:p.Thr87Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.T87P	ENST00000344113.4	37	c.259	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378539	0.24944	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.37	-0.465	0.12157	Calponin homology domain (5);	0.254272	0.26935	N	0.021750	D	0.88130	0.6354	N	0.17594	0.5	0.80722	D	1	B;B;B	0.15719	0.014;0.011;0.003	B;B;B	0.16289	0.015;0.009;0.006	T	0.76849	-0.2807	10	0.36615	T	0.2	.	9.3712	0.38254	0.4185:0.5137:0.0678:0.0	.	87;87;87	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	P	87	ENSP00000350719:T87P;ENSP00000341781:T87P;ENSP00000344528:T87P;ENSP00000348382:T87P;ENSP00000452570:T87P	ENSP00000261678:T87P	T	+	1	0	SYNE2	63478377	0.005000	0.15991	0.998000	0.56505	0.994000	0.84299	0.581000	0.23819	0.051000	0.15978	0.491000	0.48974	ACC	SYNE2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000054654		0.313	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	182	0.55	1	A	NM_182914		64408624	64408624	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	113	15.04	20	SNP	0.987	C
SYNE2	23224	genome.wustl.edu	37	14	64449490	64449490	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:64449490A>C	ENST00000344113.4	+	17	2191	c.1979A>C	c.(1978-1980)aAg>aCg	p.K660T	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K660T|SYNE2_ENST00000358025.3_Missense_Mutation_p.K660T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	660					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATGGAGAAAGTTGGTTTCA	0.323																																						dbGAP											0													93.0	91.0	92.0					14																	64449490		1861	4109	5970	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1979A>C	14.37:g.64449490A>C	ENSP00000341781:p.Lys660Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K660T	ENST00000344113.4	37	c.1979	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998928	0.54147	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58210	0.72;0.72;0.35	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000010	T	0.69070	0.3070	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71609	-0.4541	10	0.72032	D	0.01	.	14.497	0.67694	1.0:0.0:0.0:0.0	.	660;660	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	T	660	ENSP00000350719:K660T;ENSP00000341781:K660T;ENSP00000452570:K660T	ENSP00000261678:K660T	K	+	2	0	SYNE2	63519243	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	5.822000	0.69265	2.233000	0.73108	0.533000	0.62120	AAG	SYNE2	-	NULL	ENSG00000054654		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	154	0.00	0	A	NM_182914		64449490	64449490	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	143	11.18	18	SNP	1.000	C
SYNGAP1	8831	genome.wustl.edu	37	6	33405770	33405770	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:33405770A>C	ENST00000418600.2	+	8	1189	c.1088A>C	c.(1087-1089)tAc>tCc	p.Y363S	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Y304S|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Y363S|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	363					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGCAGTGGTACCCTGTAACC	0.647																																						dbGAP											0													30.0	31.0	30.0					6																	33405770		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1088A>C	6.37:g.33405770A>C	ENSP00000403636:p.Tyr363Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.Y363S	ENST00000418600.2	37	c.1088	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192417	0.58017	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.45668	0.89;0.89;0.89	4.62	3.38	0.38709	C2 calcium/lipid-binding domain, CaLB (1);	0.083771	0.49916	D	0.000132	T	0.51449	0.1675	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.991;0.996;0.996;0.986	T	0.56613	-0.7950	10	0.87932	D	0	.	8.6707	0.34147	0.8181:0.0:0.0:0.1819	.	363;363;363;363	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	S	363;363;363;304	ENSP00000293748:Y363S;ENSP00000403636:Y363S;ENSP00000412475:Y304S	ENSP00000293748:Y363S	Y	+	2	0	SYNGAP1	33513748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.006000	0.70724	1.930000	0.55929	0.528000	0.53228	TAC	SYNGAP1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000197283		0.647	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	46	0.00	0	A	XM_166407		33405770	33405770	+1	no_errors	ENST00000418600	ensembl	human	known	69_37n	missense	24	26.47	9	SNP	1.000	C
SYNGAP1	8831	genome.wustl.edu	37	6	33412300	33412300	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:33412300A>C	ENST00000418600.2	+	16	3589	c.3488A>C	c.(3487-3489)cAc>cCc	p.H1163P	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H1104P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H1163P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1163					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AACATGCCTCACCTGTCGGCT	0.562																																						dbGAP											0													90.0	77.0	81.0					6																	33412300		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3488A>C	6.37:g.33412300A>C	ENSP00000403636:p.His1163Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.H1163P	ENST00000418600.2	37	c.3488	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190751	0.78789	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.81739	-1.53;-1.53;-1.53	4.61	4.61	0.57282	.	0.116964	0.56097	D	0.000023	T	0.81432	0.4821	L	0.48642	1.525	0.52099	D	0.999947	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.83275	0.996;0.994;0.994	T	0.81897	-0.0722	10	0.42905	T	0.14	.	12.0081	0.53272	1.0:0.0:0.0:0.0	.	1163;1163;1163	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	P	1163;1163;1149;1104	ENSP00000293748:H1163P;ENSP00000403636:H1163P;ENSP00000412475:H1104P	ENSP00000293748:H1163P	H	+	2	0	SYNGAP1	33520278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.763000	0.91715	1.936000	0.56123	0.533000	0.62120	CAC	SYNGAP1	-	pfam_DUF3498	ENSG00000197283		0.562	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	100	0.99	1	A	XM_166407		33412300	33412300	+1	no_errors	ENST00000418600	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	C
SYNJ2	8871	genome.wustl.edu	37	6	158507990	158507990	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:158507990A>C	ENST00000355585.4	+	23	3387	c.3312A>C	c.(3310-3312)ccA>ccC	p.P1104P	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Silent_p.P1104P|SYNJ2_ENST00000367112.1_Silent_p.P189P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1104	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGCCTCGGCCACCTCAACCCC	0.647																																						dbGAP											0													37.0	41.0	39.0					6																	158507990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3312A>C	6.37:g.158507990A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P1104	ENST00000355585.4	37	c.3312	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.647	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	40	0.00	0	A			158507990	158507990	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	silent	42	19.23	10	SNP	1.000	C
SYNM	23336	genome.wustl.edu	37	15	99672425	99672425	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:99672425T>G	ENST00000336292.6	+	5	3977	c.3857T>G	c.(3856-3858)gTg>gGg	p.V1286G	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1287	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCAGACAAGGTGGAGTTGGGT	0.532																																					Pancreas(125;1071 1762 21750 40003 40381)	dbGAP											0													105.0	107.0	106.0					15																	99672425		2044	4201	6245	-	-	-	SO:0001583	missense	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3857T>G	15.37:g.99672425T>G	ENSP00000336775:p.Val1286Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.V1286G	ENST00000336292.6	37	c.3857		15	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427580	0.25726	.	.	ENSG00000182253	ENST00000336292	D	0.84146	-1.81	5.07	-4.19	0.03835	.	.	.	.	.	T	0.66954	0.2842	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51004	-0.8760	8	0.23891	T	0.37	.	3.0451	0.06151	0.198:0.0694:0.3539:0.3787	.	1287	O15061	SYNEM_HUMAN	G	1286	ENSP00000336775:V1286G	ENSP00000336775:V1286G	V	+	2	0	SYNM	97489948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.427000	0.06999	-0.263000	0.09378	0.533000	0.62120	GTG	SYNM	-	NULL	ENSG00000182253		0.532	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	HGNC	protein_coding		120	0.00	0	T	NM_145728		99672425	99672425	+1	no_errors	ENST00000336292	ensembl	human	known	69_37n	missense	125	15.23	23	SNP	0.000	G
SYNPO	11346	genome.wustl.edu	37	5	150028243	150028243	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:150028243A>C	ENST00000394243.1	+	3	1512	c.1138A>C	c.(1138-1140)Acc>Ccc	p.T380P	SYNPO_ENST00000519664.1_Missense_Mutation_p.T136P|SYNPO_ENST00000307662.4_Missense_Mutation_p.T136P|SYNPO_ENST00000522122.1_Missense_Mutation_p.T380P|SYNPO_ENST00000518872.1_3'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	380					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACCCAGCACCCTGTGTGC	0.557																																						dbGAP											0													126.0	123.0	124.0					5																	150028243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1138A>C	5.37:g.150028243A>C	ENSP00000377789:p.Thr380Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.T380P	ENST00000394243.1	37	c.1138	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	A	9.839	1.190400	0.21954	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.28454	1.61;1.61;1.63	5.19	0.262	0.15597	.	0.382752	0.22363	N	0.061045	T	0.15132	0.0365	N	0.17082	0.46	0.27604	N	0.948861	B;P	0.44195	0.057;0.828	B;B	0.39419	0.025;0.299	T	0.17440	-1.0369	10	0.30854	T	0.27	-8.2511	7.556	0.27824	0.6373:0.0:0.3627:0.0	.	136;380	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	P	380;380;136;136	ENSP00000377789:T380P;ENSP00000428378:T380P;ENSP00000429268:T136P	ENSP00000302139:T136P	T	+	1	0	SYNPO	150008436	0.000000	0.05858	0.524000	0.27887	0.693000	0.40251	-0.120000	0.10660	0.031000	0.15407	0.459000	0.35465	ACC	SYNPO	-	NULL	ENSG00000171992		0.557	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	393	0.75	3	A	NM_007286		150028243	150028243	+1	no_errors	ENST00000394243	ensembl	human	known	69_37n	missense	277	14.63	48	SNP	0.479	C
SYNPR	132204	genome.wustl.edu	37	3	63542230	63542230	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:63542230T>G	ENST00000295894.5	+	3	530	c.161T>G	c.(160-162)gTg>gGg	p.V54G	SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.V54G|SYNPR_ENST00000460711.1_Missense_Mutation_p.V65G|SYNPR_ENST00000478300.1_Missense_Mutation_p.V74G|SYNPR_ENST00000479198.1_Missense_Mutation_p.V54G	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	54	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTGCACCAGGTGACGTTTGAG	0.458																																					NSCLC(29;1052 1116 20025 32519)	dbGAP											0													51.0	56.0	54.0					3																	63542230		1998	4172	6170	-	-	-	SO:0001583	missense	0			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.161T>G	3.37:g.63542230T>G	ENSP00000295894:p.Val54Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R675|G5E9W4	Missense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.V74G	ENST00000295894.5	37	c.221	CCDS46860.1	3	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663468	0.88251	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000479198;ENST00000460711;ENST00000465156	T;T;T;T;T	0.50548	1.63;1.62;1.25;1.61;0.74	5.78	5.78	0.91487	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.72584	-0.4249	10	0.48119	T	0.1	-19.2359	15.2875	0.73838	0.0:0.0:0.0:1.0	.	65;54;74	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	G	74;54;54;65;54	ENSP00000418994:V74G;ENSP00000295894:V54G;ENSP00000418929:V54G;ENSP00000418701:V65G;ENSP00000418123:V54G	ENSP00000295894:V54G	V	+	2	0	SYNPR	63517270	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	GTG	SYNPR	-	pfam_MARVEL-like_dom	ENSG00000163630		0.458	SYNPR-004	KNOWN	basic|CCDS	protein_coding	SYNPR	HGNC	protein_coding	OTTHUMT00000351787.1	70	0.00	0	T			63542230	63542230	+1	no_errors	ENST00000478300	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	G
SYT11	23208	genome.wustl.edu	37	1	155838008	155838008	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155838008T>G	ENST00000368324.4	+	2	540	c.287T>G	c.(286-288)gTg>gGg	p.V96G	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	96					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AACCTGTTGGTGGACGCAGCA	0.517																																						dbGAP											0													117.0	110.0	112.0					1																	155838008		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.287T>G	1.37:g.155838008T>G	ENSP00000357307:p.Val96Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.V96G	ENST00000368324.4	37	c.287	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681136	0.14907	.	.	ENSG00000132718	ENST00000368324	T	0.52526	0.66	5.66	3.28	0.37604	.	0.211783	0.40728	N	0.001030	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.10800	-1.0614	10	0.21014	T	0.42	.	4.7104	0.12870	0.0:0.1839:0.1601:0.6561	.	96	Q9BT88	SYT11_HUMAN	G	96	ENSP00000357307:V96G	ENSP00000357307:V96G	V	+	2	0	SYT11	154104632	0.963000	0.33076	0.060000	0.19600	0.884000	0.51177	0.644000	0.24766	0.917000	0.36895	0.533000	0.62120	GTG	SYT11	-	NULL	ENSG00000132718		0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	156	0.00	0	T	NM_152280		155838008	155838008	+1	no_errors	ENST00000368324	ensembl	human	known	69_37n	missense	282	13.55	45	SNP	1.000	G
SYT4	6860	genome.wustl.edu	37	18	40850381	40850381	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:40850381A>C	ENST00000255224.3	-	4	1571	c.1203T>G	c.(1201-1203)ggT>ggG	p.G401G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G383G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	401					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGTGCTCTCCACCAGTTCCTT	0.478																																					NSCLC(85;81 1419 2855 22820 35912)	dbGAP											0													160.0	159.0	159.0					18																	40850381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1203T>G	18.37:g.40850381A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEU3|Q9P2K4	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.G401	ENST00000255224.3	37	c.1203	CCDS11922.1	18																																																																																			SYT4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000132872		0.478	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	397	0.00	0	A	NM_020783		40850381	40850381	-1	no_errors	ENST00000255224	ensembl	human	known	69_37n	silent	221	15.59	41	SNP	0.987	C
SYT4	6860	genome.wustl.edu	37	18	40850402	40850402	+	Silent	SNP	A	A	C	rs199914288		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:40850402A>C	ENST00000255224.3	-	4	1550	c.1182T>G	c.(1180-1182)ggT>ggG	p.G394G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G376G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	394					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGCTGCTGCACCCAAGACTA	0.478																																					NSCLC(85;81 1419 2855 22820 35912)	dbGAP											0													148.0	144.0	146.0					18																	40850402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1182T>G	18.37:g.40850402A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEU3|Q9P2K4	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.G394	ENST00000255224.3	37	c.1182	CCDS11922.1	18																																																																																			SYT4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000132872		0.478	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	355	0.28	1	A	NM_020783		40850402	40850402	-1	no_errors	ENST00000255224	ensembl	human	known	69_37n	silent	213	16.47	42	SNP	0.997	C
TAAR8	83551	genome.wustl.edu	37	6	132874690	132874690	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:132874690A>C	ENST00000275200.1	+	1	859	c.859A>C	c.(859-861)Acc>Ccc	p.T287P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	287					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GGGCTTCCTGACCCCTGCCTA	0.388																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.859A>C	6.37:g.132874690A>C	ENSP00000275200:p.Thr287Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUQ0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T287P	ENST00000275200.1	37	c.859	CCDS5154.1	6	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919643	0.52653	.	.	ENSG00000146385	ENST00000275200	T	0.72725	-0.68	4.72	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.72028	0.3410	M	0.64630	1.985	0.29962	N	0.819345	D	0.76494	0.999	D	0.77557	0.99	T	0.69030	-0.5253	10	0.87932	D	0	-18.7108	10.1897	0.43019	0.9217:0.0:0.0783:0.0	.	287	Q969N4	TAAR8_HUMAN	P	287	ENSP00000275200:T287P	ENSP00000275200:T287P	T	+	1	0	TAAR8	132916383	0.000000	0.05858	0.291000	0.24904	0.569000	0.35902	0.887000	0.28254	0.944000	0.37579	0.533000	0.62120	ACC	TAAR8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Trace_amine_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000146385		0.388	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR8	HGNC	protein_coding	OTTHUMT00000042262.1	223	0.89	2	A	NM_053278		132874690	132874690	+1	no_errors	ENST00000275200	ensembl	human	known	69_37n	missense	156	14.75	27	SNP	0.718	C
TACC2	10579	genome.wustl.edu	37	10	123954633	123954633	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:123954633A>C	ENST00000369005.1	+	8	6253	c.5913A>C	c.(5911-5913)ccA>ccC	p.P1971P	TACC2_ENST00000358010.1_Silent_p.P117P|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Silent_p.P1975P|TACC2_ENST00000260733.3_Silent_p.P49P|TACC2_ENST00000368999.1_Silent_p.P49P|TACC2_ENST00000515273.1_Silent_p.P1975P|TACC2_ENST00000334433.3_Silent_p.P1971P|TACC2_ENST00000369004.3_Silent_p.P49P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000513429.1_Silent_p.P117P|TACC2_ENST00000515603.1_Silent_p.P1926P|TACC2_ENST00000360561.3_Silent_p.P49P|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1971	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACCCCCACCACCCCCCGAAG	0.612																																						dbGAP											0													61.0	66.0	64.0					10																	123954633		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5913A>C	10.37:g.123954633A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.P1971	ENST00000369005.1	37	c.5913	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	71	0.00	0	A			123954633	123954633	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	silent	54	25.00	18	SNP	0.720	C
TAF3	83860	genome.wustl.edu	37	10	7866501	7866501	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:7866501A>C	ENST00000344293.5	+	2	593	c.387A>C	c.(385-387)ccA>ccC	p.P129P		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	129					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ATTACCTGCCACCCATTGTGT	0.368																																						dbGAP											0													210.0	190.0	196.0					10																	7866501		1874	4118	5992	-	-	-	SO:0001819	synonymous_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.387A>C	10.37:g.7866501A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P129	ENST00000344293.5	37	c.387	CCDS41487.1	10																																																																																			TAF3	-	NULL	ENSG00000165632		0.368	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	228	0.00	0	A	NM_031923		7866501	7866501	+1	no_errors	ENST00000344293	ensembl	human	known	69_37n	silent	184	13.08	28	SNP	0.997	C
TACC2	10579	genome.wustl.edu	37	10	123988980	123988980	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:123988980A>C	ENST00000369005.1	+	15	8356	c.8016A>C	c.(8014-8016)ccA>ccC	p.P2672P	TACC2_ENST00000358010.1_Silent_p.P818P|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000260733.3_Silent_p.P750P|TACC2_ENST00000368999.1_Silent_p.P762P|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000334433.3_Silent_p.P2672P|TACC2_ENST00000369004.3_Silent_p.P762P|TACC2_ENST00000513429.1_Silent_p.P818P|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000360561.3_Silent_p.P750P|TACC2_ENST00000369000.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2672					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAACCCCCCACTATTCGCTC	0.527																																						dbGAP											0													260.0	274.0	270.0					10																	123988980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8016A>C	10.37:g.123988980A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.P2672	ENST00000369005.1	37	c.8016	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	322	0.31	1	A			123988980	123988980	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	silent	388	12.56	56	SNP	1.000	C
TAF6	6878	genome.wustl.edu	37	7	99707890	99707890	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99707890A>C	ENST00000344095.4	-	11	1616	c.1091T>G	c.(1090-1092)gTg>gGg	p.V364G	TAF6_ENST00000452041.1_Missense_Mutation_p.V364G|TAF6_ENST00000418432.2_Missense_Mutation_p.V288G|AP4M1_ENST00000421755.1_3'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.V401G|TAF6_ENST00000472509.1_Missense_Mutation_p.V421G|TAF6_ENST00000453269.2_Missense_Mutation_p.V364G	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	364					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCTCGTCCACCCAGCTCTG	0.512																																						dbGAP											0													154.0	155.0	155.0					7																	99707890		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1091T>G	7.37:g.99707890A>C	ENSP00000344537:p.Val364Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.V364G	ENST00000344095.4	37	c.1091	CCDS5686.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.66|15.66	2.898880|2.898880	0.52227|0.52227	.|.	.|.	ENSG00000221838|ENSG00000106290	ENST00000450807|ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	.|T;T;T;T;T;T	.|0.66995	.|-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Domain of unknown function DUF1546 (1);	.|0.207592	.|0.41396	.|D	.|0.000893	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B;B;P	.|0.37573	.|0.6;0.296;0.345;0.228;0.6	.|B;B;B;B;B	.|0.39562	.|0.303;0.125;0.199;0.199;0.303	T|T	0.54794|0.54794	-0.8240|-0.8240	6|10	0.33940|0.27785	T|T	0.23|0.31	-18.2586|-18.2586	13.1417|13.1417	0.59438|0.59438	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|401;364;354;364;288	.|B4DT11;P49848-2;A4D299;P49848;B3KUR4	.|.;.;.;TAF6_HUMAN;.	P|G	157|364;421;364;364;288;401	.|ENSP00000389575:V364G;ENSP00000419760:V421G;ENSP00000416396:V364G;ENSP00000344537:V364G;ENSP00000407980:V288G;ENSP00000399982:V401G	ENSP00000391585:H157P|ENSP00000344537:V364G	H|V	+|-	2|2	0|0	AP4M1|TAF6	99545826|99545826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.972000|7.972000	0.88022|0.88022	2.197000|2.197000	0.70478|0.70478	0.454000|0.454000	0.30748|0.30748	CAC|GTG	TAF6	-	pfam_DUF1546,superfamily_ARM-type_fold	ENSG00000106290		0.512	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	211	0.47	1	A	NM_005641		99707890	99707890	-1	no_errors	ENST00000344095	ensembl	human	known	69_37n	missense	223	14.45	38	SNP	1.000	C
TAF6L	10629	genome.wustl.edu	37	11	62545602	62545602	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:62545602T>G	ENST00000294168.3	+	4	586		c.e4+2		TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa						chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTCAGAGGTGGCTGCCGGG	0.602																																						dbGAP											0													51.0	47.0	48.0					11																	62545602		2201	4299	6500	-	-	-	SO:0001630	splice_region_variant	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.385+2T>G	11.37:g.62545602T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAT0|Q96HA6	Splice_Site	SNP	-	e3+2	ENST00000294168.3	37	c.385+2	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184995	0.78677	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3281	0.55022	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF6L	62302178	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.059000	0.76684	2.170000	0.68504	0.379000	0.24179	.	TAF6L	-	-	ENSG00000162227		0.602	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	33	0.00	0	T	NM_006473	Intron	62545602	62545602	+1	no_errors	ENST00000294168	ensembl	human	known	69_37n	splice_site	30	11.11	4	SNP	1.000	G
TAGAP	117289	genome.wustl.edu	37	6	159457880	159457880	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:159457880A>C	ENST00000367066.3	-	10	1506	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.V214G|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	392					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGGTTTGTCACCCGGCTCTC	0.587																																						dbGAP											0													51.0	53.0	53.0					6																	159457880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1175T>G	6.37:g.159457880A>C	ENSP00000356033:p.Val392Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V392G	ENST00000367066.3	37	c.1175	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	A	13.28	2.188660	0.38609	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.19532	2.14;2.39	5.83	-3.3	0.05003	.	1.857460	0.02705	N	0.112191	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.29397	-1.0013	10	0.25106	T	0.35	0.3539	1.6679	0.02805	0.3551:0.3556:0.1531:0.1362	.	392	Q8N103	TAGAP_HUMAN	G	392;214;57	ENSP00000356033:V392G;ENSP00000322650:V214G	ENSP00000322650:V214G	V	-	2	0	TAGAP	159377868	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.217000	0.17603	-0.831000	0.04256	-0.417000	0.06048	GTG	TAGAP	-	NULL	ENSG00000164691		0.587	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	82	0.00	0	A	NM_054114		159457880	159457880	-1	no_errors	ENST00000367066	ensembl	human	known	69_37n	missense	42	27.12	16	SNP	0.000	C
TAGLN3	29114	genome.wustl.edu	37	3	111719760	111719760	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:111719760A>C	ENST00000393917.2	+	3	874	c.322A>C	c.(322-324)Acc>Ccc	p.T108P	TAGLN3_ENST00000478951.1_Missense_Mutation_p.T108P|TAGLN3_ENST00000455401.2_Missense_Mutation_p.T108P|TAGLN3_ENST00000273368.4_Missense_Mutation_p.T108P|TAGLN3_ENST00000486460.1_Missense_Mutation_p.T24P	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TGTCAGAACCACCGACATCTT	0.478																																						dbGAP											0													140.0	143.0	142.0					3																	111719760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.322A>C	3.37:g.111719760A>C	ENSP00000377494:p.Thr108Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Transgelin	p.T108P	ENST00000393917.2	37	c.322	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409336	0.83340	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460;ENST00000469385	D;D;D;D;T;D	0.94687	-3.49;-3.49;-3.49;-3.49;0.9;-3.49	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	M	0.89534	3.04	0.58432	D	0.999999	P	0.35307	0.494	P	0.58130	0.833	D	0.97289	0.9923	10	0.41790	T	0.15	-3.9495	15.2214	0.73313	1.0:0.0:0.0:0.0	.	108	Q9UI15	TAGL3_HUMAN	P	108;108;108;108;108;24;48	ENSP00000419105:T108P;ENSP00000377494:T108P;ENSP00000273368:T108P;ENSP00000391160:T108P;ENSP00000417904:T24P;ENSP00000420346:T48P	ENSP00000273368:T108P	T	+	1	0	TAGLN3	113202450	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.962000	0.93254	2.236000	0.73375	0.528000	0.53228	ACC	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin	ENSG00000144834		0.478	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	158	0.00	0	A	NM_013259		111719760	111719760	+1	no_errors	ENST00000273368	ensembl	human	known	69_37n	missense	180	14.62	31	SNP	1.000	C
TANC1	85461	genome.wustl.edu	37	2	159954288	159954288	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:159954288A>C	ENST00000263635.6	+	4	438	c.201A>C	c.(199-201)tcA>tcC	p.S67S	TANC1_ENST00000454300.1_Silent_p.S67S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	67					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCCTTCCTCACCTTTGCTGC	0.498																																						dbGAP											0													166.0	158.0	161.0					2																	159954288		2026	4177	6203	-	-	-	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.201A>C	2.37:g.159954288A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S67	ENST00000263635.6	37	c.201	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.498	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	507	0.97	5	A			159954288	159954288	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	silent	366	23.70	114	SNP	1.000	C
TANC1	85461	genome.wustl.edu	37	2	160031465	160031465	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160031465T>G	ENST00000263635.6	+	12	1742	c.1505T>G	c.(1504-1506)gTg>gGg	p.V502G	TANC1_ENST00000454300.1_Splice_Site_p.V396G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	502					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCCCCTAGGTGGTGGCCTAC	0.562																																						dbGAP											0													278.0	279.0	278.0					2																	160031465		2148	4253	6401	-	-	-	SO:0001630	splice_region_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1504-1T>G	2.37:g.160031465T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.V502G	ENST00000263635.6	37	c.1505	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665309	0.88251	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.75477	-0.9;-0.94	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.87136	0.6102	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.993	D	0.89118	0.3501	10	0.87932	D	0	.	15.7317	0.77810	0.0:0.0:0.0:1.0	.	494;396;502	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	G	396;502	ENSP00000396339:V396G;ENSP00000263635:V502G	ENSP00000263635:V502G	V	+	2	0	TANC1	159739711	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	2.125000	0.65367	0.533000	0.62120	GTG	TANC1	-	NULL	ENSG00000115183		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	227	0.87	2	T		Missense_Mutation	160031465	160031465	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	missense	229	13.91	37	SNP	1.000	G
TANC1	85461	genome.wustl.edu	37	2	160035347	160035347	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160035347T>G	ENST00000263635.6	+	14	2420	c.2183T>G	c.(2182-2184)gTg>gGg	p.V728G	TANC1_ENST00000454300.1_Missense_Mutation_p.V622G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	728					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGCTACAAGGTGGTGCCCGTG	0.562																																						dbGAP											0													112.0	114.0	113.0					2																	160035347		2021	4178	6199	-	-	-	SO:0001583	missense	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2183T>G	2.37:g.160035347T>G	ENSP00000263635:p.Val728Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.V728G	ENST00000263635.6	37	c.2183	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317007	0.81469	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72394	-0.62;-0.65	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85274	0.5659	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.87421	0.2382	10	0.72032	D	0.01	.	15.9154	0.79512	0.0:0.0:0.0:1.0	.	720;622;728	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	G	622;728	ENSP00000396339:V622G;ENSP00000263635:V728G	ENSP00000263635:V728G	V	+	2	0	TANC1	159743593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.178000	0.69098	0.533000	0.62120	GTG	TANC1	-	NULL	ENSG00000115183		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	186	0.53	1	T			160035347	160035347	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	missense	144	13.25	22	SNP	1.000	G
TANC1	85461	genome.wustl.edu	37	2	160086359	160086359	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:160086359T>C	ENST00000263635.6	+	27	4659	c.4422T>C	c.(4420-4422)acT>acC	p.T1474T	TANC1_ENST00000454300.1_Silent_p.T1368T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1474					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTTCCCCAACTCCCAGGTCCC	0.532																																						dbGAP											0													97.0	105.0	103.0					2																	160086359		1975	4143	6118	-	-	-	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4422T>C	2.37:g.160086359T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.T1474	ENST00000263635.6	37	c.4422	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.532	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	103	0.00	0	T			160086359	160086359	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	silent	80	13.98	13	SNP	0.186	C
TANC2	26115	genome.wustl.edu	37	17	61417657	61417657	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:61417657A>G	ENST00000424789.2	+	10	1553	c.1549A>G	c.(1549-1551)Agg>Ggg	p.R517G	TANC2_ENST00000389520.4_Missense_Mutation_p.R517G|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	517					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCTTCCGGAGGGGAGTTCT	0.542																																						dbGAP											0													69.0	65.0	66.0					17																	61417657		1889	4125	6014	-	-	-	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1549A>G	17.37:g.61417657A>G	ENSP00000387593:p.Arg517Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R517G	ENST00000424789.2	37	c.1549	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	A	16.50	3.139947	0.56936	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.18338	2.22;2.22	5.13	3.97	0.46021	.	0.077779	0.64402	D	0.000002	T	0.34861	0.0912	M	0.76170	2.325	0.49915	D	0.999833	P;P	0.52692	0.837;0.955	P;P	0.57468	0.71;0.821	T	0.18429	-1.0337	10	0.87932	D	0	.	11.6182	0.51102	0.8513:0.1487:0.0:0.0	.	517;517	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	G	517	ENSP00000374171:R517G;ENSP00000387593:R517G	ENSP00000374171:R517G	R	+	1	2	TANC2	58771389	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.892000	0.63193	1.927000	0.55829	0.460000	0.39030	AGG	TANC2	-	NULL	ENSG00000170921		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	210	0.00	0	A			61417657	61417657	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	missense	177	16.43	35	SNP	1.000	G
TANC2	26115	genome.wustl.edu	37	17	61498464	61498464	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:61498464T>G	ENST00000424789.2	+	25	5125	c.5121T>G	c.(5119-5121)ggT>ggG	p.G1707G	TANC2_ENST00000389520.4_Silent_p.G1717G|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1707					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATACCGAGGTGGCGTGAGAT	0.562																																						dbGAP											0													174.0	177.0	176.0					17																	61498464		2184	4263	6447	-	-	-	SO:0001819	synonymous_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5121T>G	17.37:g.61498464T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1707	ENST00000424789.2	37	c.5121	CCDS45754.1	17																																																																																			TANC2	-	NULL	ENSG00000170921		0.562	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	229	0.00	0	T			61498464	61498464	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	silent	213	13.01	32	SNP	0.994	G
TAOK2	9344	genome.wustl.edu	37	16	29989483	29989483	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:29989483T>G	ENST00000308893.4	+	3	1247		c.e3+2		TAOK2_ENST00000279394.3_Splice_Site|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Splice_Site	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCCAATGAGGTGGGCCAGGTG	0.562																																						dbGAP											0													130.0	109.0	116.0					16																	29989483		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.204+2T>G	16.37:g.29989483T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Splice_Site	SNP	-	e2+2	ENST00000308893.4	37	c.204+2	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113742	0.56398	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.547	0.68038	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAOK2	29896984	1.000000	0.71417	0.934000	0.37439	0.581000	0.36288	7.705000	0.84606	2.084000	0.62774	0.459000	0.35465	.	TAOK2	-	-	ENSG00000149930		0.562	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	244	0.81	2	T	NM_016151	Intron	29989483	29989483	+1	no_errors	ENST00000308893	ensembl	human	known	69_37n	splice_site	193	15.35	35	SNP	0.998	G
TAOK2	9344	genome.wustl.edu	37	16	29989630	29989630	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:29989630A>C	ENST00000308893.4	+	4	1305	c.262A>C	c.(262-264)Acc>Ccc	p.T88P	TAOK2_ENST00000279394.3_Missense_Mutation_p.T88P|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.T88P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCATCCCAACACCATTCAGTA	0.542																																						dbGAP											0													189.0	170.0	177.0					16																	29989630		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.262A>C	16.37:g.29989630A>C	ENSP00000310094:p.Thr88Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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,pfscan_Prot_kinase_cat_dom	p.T88P	ENST00000308893.4	37	c.262	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104680	0.77096	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.24908	1.83;1.83;1.83	5.85	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.31664	0.95	0.80722	D	1	D;P;P;D	0.69078	0.997;0.928;0.941;0.996	D;P;D;D	0.72075	0.962;0.882;0.928;0.976	T	0.04294	-1.0962	9	.	.	.	.	11.2009	0.48741	0.9271:0.0:0.0729:0.0	.	272;88;88;88	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	P	88	ENSP00000310094:T88P;ENSP00000440336:T88P;ENSP00000279394:T88P	.	T	+	1	0	TAOK2	29897131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.155000	0.94700	1.036000	0.39998	0.459000	0.35465	ACC	TAOK2	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000149930		0.542	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	306	0.00	0	A	NM_016151		29989630	29989630	+1	no_errors	ENST00000308893	ensembl	human	known	69_37n	missense	242	11.91	33	SNP	1.000	C
TAPBPL	55080	genome.wustl.edu	37	12	6570214	6570214	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6570214A>C	ENST00000266556.7	+	6	1456				VAMP1_ENST00000544432.1_5'Flank|TAPBPL_ENST00000545700.1_Intron	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like						negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCAGCCACCCACCCATCACAG	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1291+110A>C	12.37:g.6570214A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWB8	RNA	SNP	-	NULL	ENST00000266556.7	37	NULL	CCDS8546.1	12																																																																																			TAPBPL	-	-	ENSG00000139192		0.577	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	24	0.00	0	A	NM_018009		6570214	6570214	+1	no_errors	ENST00000544289	ensembl	human	putative	69_37n	rna	12	40.00	8	SNP	0.002	C
TARS	6897	genome.wustl.edu	37	5	33462213	33462213	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:33462213T>G	ENST00000265112.3	+	16	2051	c.1740T>G	c.(1738-1740)ggT>ggG	p.G580G	TARS_ENST00000509410.1_3'UTR|TARS_ENST00000541634.1_Silent_p.G476G|TARS_ENST00000455217.2_Silent_p.G613G|TARS_ENST00000502553.1_Silent_p.G580G|TARS_ENST00000414361.2_Silent_p.G459G	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	580					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCCATGATGGTGATGATAAGA	0.353																																						dbGAP											0													81.0	87.0	85.0					5																	33462213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1740T>G	5.37:g.33462213T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.G580	ENST00000265112.3	37	c.1740	CCDS3899.1	5																																																																																			TARS	-	pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.353	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	170	0.58	1	T	NM_152295		33462213	33462213	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	silent	112	20.42	29	SNP	0.998	G
TAS2R3	50831	genome.wustl.edu	37	7	141464259	141464259	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141464259A>C	ENST00000247879.2	+	1	363	c.301A>C	c.(301-303)Acc>Ccc	p.T101P	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	101					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TTGGCTTGCCACCTGTCTTGG	0.433																																						dbGAP											0													255.0	239.0	244.0					7																	141464259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.301A>C	7.37:g.141464259A>C	ENSP00000247879:p.Thr101Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T101P	ENST00000247879.2	37	c.301	CCDS5867.1	7	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395778	0.42512	.	.	ENSG00000127362	ENST00000247879	T	0.01464	4.86	6.17	2.51	0.30379	.	0.126095	0.50627	D	0.000102	T	0.11239	0.0274	H	0.94183	3.505	0.26858	N	0.968018	D	0.69078	0.997	D	0.70016	0.967	T	0.08680	-1.0710	10	0.87932	D	0	.	4.8089	0.13333	0.702:0.0:0.1536:0.1444	.	101	Q9NYW6	TA2R3_HUMAN	P	101	ENSP00000247879:T101P	ENSP00000247879:T101P	T	+	1	0	TAS2R3	141110728	0.294000	0.24380	0.709000	0.30452	0.107000	0.19398	0.842000	0.27627	0.530000	0.28619	0.533000	0.62120	ACC	TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.433	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	573	0.17	1	A			141464259	141464259	+1	no_errors	ENST00000247879	ensembl	human	known	69_37n	missense	517	16.29	102	SNP	0.627	C
TAS2R40	259286	genome.wustl.edu	37	7	142919916	142919916	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142919916A>C	ENST00000408947.3	+	1	787	c.745A>C	c.(745-747)Acc>Ccc	p.T249P	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	249					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CATCAAAGCCACCAGCTACTT	0.473																																						dbGAP											0													119.0	118.0	118.0					7																	142919916		1949	4140	6089	-	-	-	SO:0001583	missense	0			AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.745A>C	7.37:g.142919916A>C	ENSP00000386210:p.Thr249Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I2|Q645W6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T249P	ENST00000408947.3	37	c.745	CCDS43662.1	7	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328214	0.60743	.	.	ENSG00000221937	ENST00000408947	T	0.00737	5.76	5.74	3.36	0.38483	.	0.623994	0.14602	U	0.309587	T	0.02380	0.0073	L	0.57536	1.79	0.09310	N	1	D	0.67145	0.996	D	0.65573	0.936	T	0.46303	-0.9201	10	0.87932	D	0	.	5.2185	0.15356	0.6968:0.1698:0.1333:0.0	.	249	P59535	T2R40_HUMAN	P	249	ENSP00000386210:T249P	ENSP00000386210:T249P	T	+	1	0	TAS2R40	142630038	0.000000	0.05858	0.296000	0.24974	0.976000	0.68499	0.258000	0.18387	0.973000	0.38340	0.533000	0.62120	ACC	TAS2R40	-	pfam_TAS2_rcpt	ENSG00000221937		0.473	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R40	HGNC	protein_coding	OTTHUMT00000327097.1	344	0.00	0	A			142919916	142919916	+1	no_errors	ENST00000408947	ensembl	human	known	69_37n	missense	226	17.99	50	SNP	0.008	C
TAS2R50	259296	genome.wustl.edu	37	12	11139353	11139353	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11139353A>C	ENST00000506868.1	-	1	158	c.107T>G	c.(106-108)gTg>gGg	p.V36G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TTTTCTCTTCACCCAGTCAAT	0.353																																						dbGAP											0													62.0	69.0	67.0					12																	11139353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.107T>G	12.37:g.11139353A>C	ENSP00000424040:p.Val36Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V36G	ENST00000506868.1	37	c.107	CCDS8638.1	12	.	.	.	.	.	.	.	.	.	.	A	13.41	2.227819	0.39399	.	.	ENSG00000212126	ENST00000506868	T	0.00976	5.48	2.19	2.19	0.27852	.	1.543650	0.04869	U	0.445618	T	0.07143	0.0181	H	0.95712	3.71	0.09310	N	1	P	0.49783	0.928	P	0.55260	0.772	T	0.21008	-1.0258	10	0.87932	D	0	.	7.9369	0.29935	1.0:0.0:0.0:0.0	.	36	P59544	T2R50_HUMAN	G	36	ENSP00000424040:V36G	ENSP00000424040:V36G	V	-	2	0	TAS2R50	11030620	0.586000	0.26782	0.009000	0.14445	0.002000	0.02628	0.960000	0.29253	1.003000	0.39130	0.260000	0.18958	GTG	TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.353	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	293	0.00	0	A	NM_176890		11139353	11139353	-1	no_errors	ENST00000506868	ensembl	human	known	69_37n	missense	197	18.52	45	SNP	0.050	C
TAS2R46	259292	genome.wustl.edu	37	12	11214070	11214070	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:11214070T>G	ENST00000533467.1	-	1	823	c.824A>C	c.(823-825)cAc>cCc	p.H275P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	275					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GATGAATGGGTGGGTTGAAGG	0.423																																						dbGAP											0													197.0	205.0	202.0					12																	11214070		2148	4278	6426	-	-	-	SO:0001583	missense	0			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.824A>C	12.37:g.11214070T>G	ENSP00000436450:p.His275Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.H275P	ENST00000533467.1	37	c.824	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911558	0.33721	.	.	ENSG00000226761	ENST00000533467	T	0.04015	3.73	2.54	2.54	0.30619	.	.	.	.	.	T	0.29882	0.0747	H	0.96861	3.895	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.11108	-1.0601	9	0.87932	D	0	.	8.5848	0.33651	0.0:0.0:0.0:1.0	.	275	P59540	T2R46_HUMAN	P	275	ENSP00000436450:H275P	ENSP00000436450:H275P	H	-	2	0	TAS2R46	11105337	0.759000	0.28416	0.042000	0.18584	0.012000	0.07955	3.557000	0.53741	1.181000	0.42912	0.163000	0.16589	CAC	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.423	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	411	0.00	0	T	NM_176887		11214070	11214070	-1	no_errors	ENST00000533467	ensembl	human	known	69_37n	missense	353	14.32	59	SNP	0.033	G
TASP1	55617	genome.wustl.edu	37	20	13539704	13539704	+	Missense_Mutation	SNP	A	A	C	rs112168352		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:13539704A>C	ENST00000337743.4	-	8	746	c.626T>G	c.(625-627)gTg>gGg	p.V209G	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	209					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ATCTGTGTCCACCCTTTCTGC	0.294																																						dbGAP											0													174.0	170.0	172.0					20																	13539704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.626T>G	20.37:g.13539704A>C	ENSP00000338624:p.Val209Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	pfam_Peptidase_T2	p.V209G	ENST00000337743.4	37	c.626	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	A	15.26	2.782250	0.49891	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.91011	-2.77;-2.77	5.57	5.57	0.84162	.	0.052829	0.85682	D	0.000000	D	0.88618	0.6485	L	0.58354	1.805	0.80722	D	1	P;B	0.37038	0.579;0.07	B;B	0.39027	0.288;0.247	D	0.86279	0.1666	10	0.22109	T	0.4	-11.0854	13.6761	0.62454	1.0:0.0:0.0:0.0	.	209;186	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	G	186;209;186	ENSP00000338624:V209G;ENSP00000400580:V186G	ENSP00000338624:V209G	V	-	2	0	TASP1	13487704	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.114000	0.64651	0.482000	0.46254	GTG	TASP1	-	pfam_Peptidase_T2	ENSG00000089123		0.294	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	146	0.00	0	A	NM_017714		13539704	13539704	-1	no_errors	ENST00000337743	ensembl	human	known	69_37n	missense	129	20.73	34	SNP	1.000	C
TATDN2	9797	genome.wustl.edu	37	3	10312323	10312323	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:10312323A>C	ENST00000287652.4	+	4	2508	c.1457A>C	c.(1456-1458)cAc>cCc	p.H486P	TATDN2_ENST00000448281.2_Missense_Mutation_p.H486P|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	486					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCAAAGAGCCACCTGGAGCCA	0.507																																						dbGAP											0													65.0	63.0	63.0					3																	10312323		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1457A>C	3.37:g.10312323A>C	ENSP00000287652:p.His486Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_superfamily	p.H486P	ENST00000287652.4	37	c.1457	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	A	7.733	0.699606	0.15106	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.33654	1.4;1.4	5.0	1.33	0.21861	.	0.555900	0.15505	N	0.258808	T	0.26882	0.0658	L	0.47716	1.5	0.23126	N	0.998252	P	0.38642	0.641	B	0.35413	0.202	T	0.11155	-1.0599	10	0.56958	D	0.05	-2.0038	6.2764	0.20983	0.6309:0.0:0.3691:0.0	.	486	Q93075	TATD2_HUMAN	P	486	ENSP00000287652:H486P;ENSP00000408736:H486P	ENSP00000287652:H486P	H	+	2	0	TATDN2	10287323	0.009000	0.17119	0.362000	0.25862	0.117000	0.20001	0.383000	0.20651	0.053000	0.16036	0.524000	0.50904	CAC	TATDN2	-	NULL	ENSG00000157014		0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	116	0.00	0	A	XM_376203		10312323	10312323	+1	no_errors	ENST00000287652	ensembl	human	known	69_37n	missense	145	16.57	29	SNP	0.451	C
TAZ	6901	genome.wustl.edu	37	X	153648473	153648473	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:153648473T>G	ENST00000369776.4	+	5	564	c.479T>G	c.(478-480)gTg>gGg	p.V160G	TAZ_ENST00000350743.4_Intron|TAZ_ENST00000475699.1_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000351413.4_Intron			Q9GZV5	WWTR1_HUMAN	tafazzin	67					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATCTGGGGTGGGGGGCCTG	0.627																																						dbGAP											0													95.0	91.0	92.0					X																	153648473		2203	4300	6503	-	-	-	SO:0001583	missense	0			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000369776.4:c.479T>G	X.37:g.153648473T>G	ENSP00000358791:p.Val160Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	pfam_Acyltransferase,prints_Tafazzin	p.V160G	ENST00000369776.4	37	c.479		X	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315589	0.40996	.	.	ENSG00000102125	ENST00000369776	D	0.98550	-4.99	3.72	1.06	0.20224	.	.	.	.	.	D	0.93585	0.7952	.	.	.	0.09310	N	0.999995	B	0.19583	0.037	B	0.17098	0.017	D	0.86420	0.1754	7	.	.	.	.	3.1318	0.06425	0.0:0.252:0.2178:0.5302	.	160	Q96F92	.	G	160	ENSP00000358791:V160G	.	V	+	2	0	TAZ	153301667	.	.	0.351000	0.25721	0.642000	0.38348	.	.	0.405000	0.25532	0.427000	0.28365	GTG	TAZ	-	NULL	ENSG00000102125		0.627	TAZ-006	PUTATIVE	basic	protein_coding	TAZ	HGNC	protein_coding	OTTHUMT00000080943.2	135	0.73	1	T			153648473	153648473	+1	no_errors	ENST00000369776	ensembl	human	putative	69_37n	missense	184	15.98	35	SNP	0.109	G
TBATA	219793	genome.wustl.edu	37	10	72531120	72531120	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:72531120T>G	ENST00000299290.1	-	0	1457				TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CAGGTGCAAGTGTTAGGGCCC	0.527																																						dbGAP											0													159.0	148.0	152.0					10																	72531120		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.*12A>C	10.37:g.72531120T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	NULL	p.T77P	ENST00000299290.1	37	c.229	CCDS7308.1	10	.	.	.	.	.	.	.	.	.	.	t	7.354	0.623526	0.14193	.	.	ENSG00000166220	ENST00000394982	.	.	.	4.25	-1.43	0.08884	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44620	-0.9316	5	0.87932	D	0	.	7.6888	0.28557	0.0:0.1199:0.2389:0.6412	.	.	.	.	P	77	.	ENSP00000378433:T77P	T	-	1	0	C10orf27	72201126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	-0.308000	0.08792	0.456000	0.33151	ACT	TBATA	-	NULL	ENSG00000166220		0.527	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	186	0.53	1	T	NM_152710		72531120	72531120	-1	no_start_codon	ENST00000394982	ensembl	human	known	69_37n	missense	170	15.35	31	SNP	0.000	G
TBATA	219793	genome.wustl.edu	37	10	72538311	72538311	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:72538311A>C	ENST00000299290.1	-	6	897		c.e6+1		TBATA_ENST00000456372.2_Splice_Site|TBATA_ENST00000545575.1_Missense_Mutation_p.V159G	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											TTCCGCACCCACCTCTTTCTT	0.567																																						dbGAP											0													194.0	180.0	185.0					10																	72538311		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.507+1T>G	10.37:g.72538311A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA8|B2RPQ2|Q5T4G2	Splice_Site	SNP	-	e4+2	ENST00000299290.1	37	c.507+2	CCDS7308.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.658|9.658	1.143483|1.143483	0.21205|0.21205	.|.	.|.	ENSG00000166220|ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372|ENST00000545575	.|T	.|0.17054	.|2.3	5.64|5.64	4.5|4.5	0.54988|0.54988	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22360	.|0.0539	.|.	.|.	.|.	0.39636|0.39636	D|D	0.970243|0.970243	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.03619	.|-1.1019	.|6	.|0.30854	.|T	.|0.27	.|.	9.2107|9.2107	0.37318|0.37318	0.8385:0.0:0.0:0.1615|0.8385:0.0:0.0:0.1615	.|.	.|.	.|.	.|.	.|G	-1|159	.|ENSP00000444940:V159G	.|ENSP00000444940:V159G	.|V	-|-	.|2	.|0	C10orf27|C10orf27	72208317|72208317	1.000000|1.000000	0.71417|0.71417	0.832000|0.832000	0.32986|0.32986	0.131000|0.131000	0.20780|0.20780	2.501000|2.501000	0.45389|0.45389	1.058000|1.058000	0.40530|0.40530	0.459000|0.459000	0.35465|0.35465	.|GTG	TBATA	-	-	ENSG00000166220		0.567	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	156	0.00	0	A	NM_152710	Intron	72538311	72538311	-1	no_errors	ENST00000299290	ensembl	human	known	69_37n	splice_site	111	19.57	27	SNP	0.947	C
TBC1D1	23216	genome.wustl.edu	37	4	37903793	37903793	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:37903793T>G	ENST00000261439.4	+	2	432	c.77T>G	c.(76-78)gTg>gGg	p.V26G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.V26G|TBC1D1_ENST00000402522.1_Missense_Mutation_p.V26G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	26					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGCAGCTGGTGGGCTCCCTG	0.557																																						dbGAP											0													105.0	90.0	95.0					4																	37903793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.77T>G	4.37:g.37903793T>G	ENSP00000261439:p.Val26Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.V26G	ENST00000261439.4	37	c.77	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499811	0.64298	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	T;T;T	0.15139	2.45;2.45;2.45	5.96	5.96	0.96718	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.46442	D	0.000290	T	0.36166	0.0957	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.66196	0.794;0.942	T	0.04593	-1.0940	10	0.87932	D	0	-27.0056	16.0955	0.81117	0.0:0.0:0.0:1.0	.	26;26	E9PGH8;Q86TI0	.;TBCD1_HUMAN	G	26	ENSP00000423651:V26G;ENSP00000261439:V26G;ENSP00000383994:V26G	ENSP00000261439:V26G	V	+	2	0	TBC1D1	37580188	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	7.679000	0.84048	2.283000	0.76528	0.477000	0.44152	GTG	TBC1D1	-	smart_PTyr_interaction_dom	ENSG00000065882		0.557	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	167	0.00	0	T	NM_015173		37903793	37903793	+1	no_errors	ENST00000261439	ensembl	human	known	69_37n	missense	152	12.99	23	SNP	1.000	G
TBC1D1	23216	genome.wustl.edu	37	4	38104674	38104674	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:38104674A>C	ENST00000261439.4	+	15	2808	c.2453A>C	c.(2452-2454)cAc>cCc	p.H818P	TBC1D1_ENST00000508802.1_Missense_Mutation_p.H912P	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	818	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAGCAATTCCACCTTAAACAC	0.433																																						dbGAP											0													154.0	143.0	147.0					4																	38104674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2453A>C	4.37:g.38104674A>C	ENSP00000261439:p.His818Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.H818P	ENST00000261439.4	37	c.2453	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195386	0.38806	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.11277	2.79;2.79	5.0	3.81	0.43845	Rab-GAP/TBC domain (4);	0.192832	0.36628	N	0.002492	T	0.08846	0.0219	N	0.16266	0.395	0.80722	D	1	B;B;B	0.32893	0.389;0.062;0.025	B;B;B	0.40199	0.322;0.112;0.148	T	0.37103	-0.9720	10	0.30854	T	0.27	-17.5053	10.7614	0.46266	0.9254:0.0:0.0746:0.0	.	912;550;818	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	P	912;818;82	ENSP00000423651:H912P;ENSP00000261439:H818P	ENSP00000261439:H818P	H	+	2	0	TBC1D1	37781069	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.508000	0.45450	0.913000	0.36797	0.459000	0.35465	CAC	TBC1D1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000065882		0.433	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	321	0.00	0	A	NM_015173		38104674	38104674	+1	no_errors	ENST00000261439	ensembl	human	known	69_37n	missense	326	10.14	37	SNP	1.000	C
TBC1D15	64786	genome.wustl.edu	37	12	72316975	72316975	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:72316975A>C	ENST00000550746.1	+	18	2131	c.2067A>C	c.(2065-2067)acA>acC	p.T689T	TBC1D15_ENST00000485960.2_Silent_p.T672T|TBC1D15_ENST00000319106.8_Silent_p.T680T|TBC1D15_ENST00000393309.3_Silent_p.T443T	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	689					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGATTAACACCTGCATGAT	0.418																																						dbGAP											0													198.0	178.0	185.0					12																	72316975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.2067A>C	12.37:g.72316975A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T689	ENST00000550746.1	37	c.2067	CCDS31858.1	12																																																																																			TBC1D15	-	NULL	ENSG00000121749		0.418	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	225	0.00	0	A	NM_022771		72316975	72316975	+1	no_errors	ENST00000550746	ensembl	human	known	69_37n	silent	164	10.81	20	SNP	1.000	C
TBC1D2	55357	genome.wustl.edu	37	9	100971376	100971376	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:100971376T>G	ENST00000375064.1	-	9	1762	c.1724A>C	c.(1723-1725)gAc>gCc	p.D575A	TBC1D2_ENST00000375066.5_Missense_Mutation_p.D575A|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.D115A|TBC1D2_ENST00000342112.5_Missense_Mutation_p.D357A	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	575					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGCTTCAGGTCTTCCACCTC	0.597																																						dbGAP											0													224.0	232.0	229.0					9																	100971376		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1724A>C	9.37:g.100971376T>G	ENSP00000364205:p.Asp575Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.D575A	ENST00000375064.1	37	c.1724		9	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063659	0.76187	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.09073	3.32;3.02;3.43;3.1	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01367	-1.1373	10	0.27785	T	0.31	.	14.9602	0.71151	0.0:0.0:0.0:1.0	.	575;575	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	A	575;575;357;115	ENSP00000364205:D575A;ENSP00000364207:D575A;ENSP00000341567:D357A;ENSP00000364203:D115A	ENSP00000341567:D357A	D	-	2	0	TBC1D2	100011197	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.978000	0.88095	2.187000	0.69744	0.459000	0.35465	GAC	TBC1D2	-	NULL	ENSG00000095383		0.597	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	348	0.85	3	T	NM_018421		100971376	100971376	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	missense	212	11.98	29	SNP	1.000	G
TBC1D25	4943	genome.wustl.edu	37	X	48419090	48419090	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48419090A>C	ENST00000376771.4	+	6	2135	c.1794A>C	c.(1792-1794)ccA>ccC	p.P598P	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.P344P	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	598					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTCCCTGCCACCTGTACCAC	0.627																																						dbGAP											0													73.0	62.0	66.0					X																	48419090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1794A>C	X.37:g.48419090A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P598	ENST00000376771.4	37	c.1794	CCDS35242.1	X																																																																																			TBC1D25	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000068354		0.627	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	86	0.00	0	A	NM_002536		48419090	48419090	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	silent	67	20.24	17	SNP	0.006	C
TBC1D9	23158	genome.wustl.edu	37	4	141578947	141578947	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:141578947A>C	ENST00000442267.2	-	12	2015	c.1941T>G	c.(1939-1941)ggT>ggG	p.G647G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	647	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCTCAAAGACACCTTGGTCCA	0.502																																						dbGAP											0													185.0	181.0	182.0					4																	141578947		2123	4246	6369	-	-	-	SO:0001819	synonymous_variant	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1941T>G	4.37:g.141578947A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U8|D3DNZ1|O94958	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.G647	ENST00000442267.2	37	c.1941	CCDS47136.1	4																																																																																			TBC1D9	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109436		0.502	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	250	0.40	1	A	NM_015130		141578947	141578947	-1	no_errors	ENST00000442267	ensembl	human	known	69_37n	silent	278	15.24	50	SNP	0.509	C
TBX18	9096	genome.wustl.edu	37	6	85446981	85446981	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:85446981C>T	ENST00000369663.5	-	8	1583	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	416					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCAGAATAGTCAGCAGGGGCC	0.587																																						dbGAP											0													87.0	84.0	85.0					6																	85446981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1246G>A	6.37:g.85446981C>T	ENSP00000358677:p.Asp416Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D416N	ENST00000369663.5	37	c.1246	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804373	0.70682	.	.	ENSG00000112837	ENST00000369663	D	0.86956	-2.19	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.82792	-0.0282	10	0.22109	T	0.4	.	19.072	0.93143	0.0:1.0:0.0:0.0	.	416	O95935	TBX18_HUMAN	N	416	ENSP00000358677:D416N	ENSP00000358677:D416N	D	-	1	0	TBX18	85503700	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.153000	0.77428	2.511000	0.84671	0.585000	0.79938	GAC	TBX18	-	NULL	ENSG00000112837		0.587	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	88	0.00	0	C	NM_001080508		85446981	85446981	-1	no_errors	ENST00000369663	ensembl	human	known	69_37n	missense	51	28.17	20	SNP	1.000	T
TBX4	9496	genome.wustl.edu	37	17	59557597	59557597	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:59557597T>C	ENST00000240335.1	+	7	983	c.938T>C	c.(937-939)cTc>cCc	p.L313P	TBX4_ENST00000393853.4_Missense_Mutation_p.L313P|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	313					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACTCACAGCTCGCGGAGCCG	0.647																																						dbGAP											0													62.0	56.0	58.0					17																	59557597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.938T>C	17.37:g.59557597T>C	ENSP00000240335:p.Leu313Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L313P	ENST00000240335.1	37	c.938	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	T	9.757	1.169110	0.21621	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.78126	-1.15;-1.15	5.84	5.84	0.93424	.	0.488460	0.24247	N	0.040202	T	0.58119	0.2100	N	0.08118	0	0.47065	D	0.999305	B;B	0.32425	0.044;0.371	B;B	0.25987	0.023;0.065	T	0.59473	-0.7448	9	.	.	.	.	15.397	0.74805	0.0:0.0:0.0:1.0	.	313;313	A5PKU7;P57082	.;TBX4_HUMAN	P	313	ENSP00000377435:L313P;ENSP00000240335:L313P	.	L	+	2	0	TBX4	56912379	1.000000	0.71417	0.979000	0.43373	0.029000	0.11900	5.414000	0.66405	2.243000	0.73865	0.533000	0.62120	CTC	TBX4	-	NULL	ENSG00000121075		0.647	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	49	0.00	0	T	NM_018488		59557597	59557597	+1	no_errors	ENST00000393853	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	1.000	C
TC2N	123036	genome.wustl.edu	37	14	92251690	92251690	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:92251690A>C	ENST00000435962.2	-	11	1501	c.1178T>G	c.(1177-1179)gTg>gGg	p.V393G	TC2N_ENST00000556018.1_Missense_Mutation_p.V329G|TC2N_ENST00000340892.5_Missense_Mutation_p.V393G|TC2N_ENST00000360594.5_Missense_Mutation_p.V393G	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	393	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAACATTCCCACCTTCACGAA	0.333																																						dbGAP											0													121.0	135.0	130.0					14																	92251690		2203	4299	6502	-	-	-	SO:0001583	missense	0			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1178T>G	14.37:g.92251690A>C	ENSP00000387882:p.Val393Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V393G	ENST00000435962.2	37	c.1178	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907863	0.72868	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.16	5.16	0.70880	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.114692	0.64402	D	0.000019	T	0.79563	0.4467	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.82372	-0.0490	10	0.87932	D	0	-10.1298	14.9793	0.71301	1.0:0.0:0.0:0.0	.	329;393	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	G	393;393;393;329;145	ENSP00000387882:V393G;ENSP00000343199:V393G;ENSP00000353802:V393G;ENSP00000451317:V329G;ENSP00000450922:V145G	ENSP00000343199:V393G	V	-	2	0	TC2N	91321443	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.941000	0.70195	1.947000	0.56498	0.482000	0.46254	GTG	TC2N	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000165929		0.333	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	377	0.00	0	A	NM_152332		92251690	92251690	-1	no_errors	ENST00000340892	ensembl	human	known	69_37n	missense	258	10.96	32	SNP	1.000	C
TCEAL2	140597	genome.wustl.edu	37	X	101382108	101382108	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:101382108T>G	ENST00000372780.1	+	3	525	c.306T>G	c.(304-306)ggT>ggG	p.G102G	TCEAL2_ENST00000329035.2_Silent_p.G102G	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						gggcagagggtgaaggagagc	0.537																																						dbGAP											0													63.0	73.0	70.0					X																	101382108		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.306T>G	X.37:g.101382108T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5C7	Silent	SNP	pfam_TF_A-like/BEX-like	p.G102	ENST00000372780.1	37	c.306	CCDS14496.1	X																																																																																			TCEAL2	-	pfam_TF_A-like/BEX-like	ENSG00000184905		0.537	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	283	0.70	2	T	NM_080390		101382108	101382108	+1	no_errors	ENST00000329035	ensembl	human	known	69_37n	silent	152	22.50	45	SNP	0.000	G
TCEANC	170082	genome.wustl.edu	37	X	13680713	13680713	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:13680713A>C	ENST00000380600.1	+	2	173	c.86A>C	c.(85-87)cAc>cCc	p.H29P	TCEANC_ENST00000544987.1_Missense_Mutation_p.H29P|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Missense_Mutation_p.H29P|TCEANC_ENST00000314720.4_Missense_Mutation_p.H59P			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	29	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CTTGGCAACCACCTTACTGAG	0.448																																						dbGAP											0													117.0	111.0	113.0					X																	13680713		1908	4117	6025	-	-	-	SO:0001583	missense	0				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.86A>C	X.37:g.13680713A>C	ENSP00000369974:p.His29Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI06|B2RDM3	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel	p.H59P	ENST00000380600.1	37	c.176		X	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798765	0.50208	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.45668	0.89;0.89;0.91;0.89	5.13	3.95	0.45737	Transcription factor IIS, N-terminal (4);	0.192104	0.34268	N	0.004113	T	0.29882	0.0747	L	0.34521	1.04	0.31961	N	0.608413	P;B	0.37207	0.587;0.247	B;B	0.33620	0.146;0.167	T	0.29852	-0.9998	10	0.36615	T	0.2	.	11.3957	0.49841	0.8503:0.1497:0.0:0.0	.	59;29	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	P	29;29;59;29	ENSP00000438952:H29P;ENSP00000440038:H29P;ENSP00000313886:H59P;ENSP00000369974:H29P	ENSP00000313886:H59P	H	+	2	0	TCEANC	13590634	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	3.151000	0.50670	0.610000	0.30035	0.486000	0.48141	CAC	TCEANC	-	pfam_TFIIS_N,superfamily_TFIIS_N,pirsf_TF_IIS-rel	ENSG00000176896		0.448	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	146	0.00	0	A	NM_152634		13680713	13680713	+1	no_errors	ENST00000314720	ensembl	human	known	69_37n	missense	189	11.27	24	SNP	0.989	C
TCEAL6	158931	genome.wustl.edu	37	X	101396082	101396082	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:101396082A>C	ENST00000372774.3	-	3	471	c.222T>G	c.(220-222)ggT>ggG	p.G74G	TCEAL6_ENST00000372773.1_Silent_p.G74G	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	74	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GCTTGCCCTCACCTTCGGACT	0.622																																						dbGAP											0													113.0	102.0	106.0					X																	101396082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.222T>G	X.37:g.101396082A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9J8	Silent	SNP	pfam_TF_A-like/BEX-like	p.G74	ENST00000372774.3	37	c.222	CCDS43978.1	X																																																																																			TCEAL6	-	pfam_TF_A-like/BEX-like	ENSG00000204071		0.622	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	HGNC	protein_coding	OTTHUMT00000057609.1	254	0.77	2	A	NM_001006938		101396082	101396082	-1	no_errors	ENST00000372773	ensembl	human	known	69_37n	silent	137	19.77	34	SNP	0.000	C
TCEAL3	85012	genome.wustl.edu	37	X	102864206	102864206	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:102864206T>G	ENST00000372628.1	+	3	572	c.214T>G	c.(214-216)Tcc>Gcc	p.S72A	TCEAL3_ENST00000372627.5_Missense_Mutation_p.S72A|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.S72A			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	72	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GCAGGGCAGGTCCGAAGGTGA	0.617																																						dbGAP											0													141.0	112.0	122.0					X																	102864206		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.214T>G	X.37:g.102864206T>G	ENSP00000361711:p.Ser72Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA4	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.S72A	ENST00000372628.1	37	c.214	CCDS14511.1	X	.	.	.	.	.	.	.	.	.	.	T	5.301	0.240873	0.10077	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.23950	1.88;1.88;1.88	3.81	-0.138	0.13464	.	1.291480	0.05797	N	0.611493	T	0.24509	0.0594	L	0.58810	1.83	0.09310	N	1	B	0.18461	0.028	B	0.17098	0.017	T	0.30679	-0.9970	10	0.30078	T	0.28	.	6.1118	0.20104	0.0:0.343:0.0:0.657	.	72	Q969E4	TCAL3_HUMAN	A	72	ENSP00000361711:S72A;ENSP00000361710:S72A;ENSP00000243286:S72A	ENSP00000243286:S72A	S	+	1	0	TCEAL3	102750862	0.416000	0.25424	0.017000	0.16124	0.002000	0.02628	0.370000	0.20433	-0.115000	0.11915	-0.453000	0.05500	TCC	TCEAL3	-	pfam_TF_A-like/BEX-like	ENSG00000196507		0.617	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	335	0.88	3	T	NM_032926		102864206	102864206	+1	no_errors	ENST00000243286	ensembl	human	known	69_37n	missense	233	11.52	31	SNP	0.015	G
TCEB3CL2	100506888	genome.wustl.edu	37	18	44543264	44543264	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:44543264A>C	ENST00000591973.2	-	1	1343	c.1108T>G	c.(1108-1110)Tgg>Ggg	p.W370G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	370	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGGGCGTCCACCCTTCCAGA	0.602																																						dbGAP											0													39.0	32.0	34.0					18																	44543264		276	1095	1371	-	-	-	SO:0001583	missense	0				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1108T>G	18.37:g.44543264A>C	ENSP00000468046:p.Trp370Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.W370G	ENST00000591973.2	37	c.1108	CCDS59316.1	18																																																																																			TCEB3CL2	-	pfam_RNA_pol_II_trans_fac_SIII_A	ENSG00000266996		0.602	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	273	0.73	2	A	XM_929328		44543264	44543264	-1	no_errors	ENST00000591973	ensembl	human	known	69_37n	missense	152	14.04	25	SNP	0.000	C
TCEB3CL	728929	genome.wustl.edu	37	18	44549191	44549191	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:44549191A>C	ENST00000451265.1	-	1	1343	c.1108T>G	c.(1108-1110)Tgg>Ggg	p.W370G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	370	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TCGGGCGTCCACCCTTCCAGA	0.597																																						dbGAP											0													260.0	221.0	234.0					18																	44549191		1740	3470	5210	-	-	-	SO:0001583	missense	0					18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1108T>G	18.37:g.44549191A>C	ENSP00000409932:p.Trp370Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MI93	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.W370G	ENST00000451265.1	37	c.1108	CCDS42433.1	18	.	.	.	.	.	.	.	.	.	.	A	3.186	-0.166795	0.06461	.	.	ENSG00000234298	ENST00000451265	T	0.29397	1.57	1.5	-2.99	0.05497	.	0.904169	0.09309	N	0.819839	T	0.19525	0.0469	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20974	-1.0259	10	0.48119	T	0.1	0.1867	4.057	0.09821	0.3872:0.1922:0.4205:0.0	.	370	Q3SY89	EA3L1_HUMAN	G	370	ENSP00000409932:W370G	ENSP00000409932:W370G	W	-	1	0	TCEB3CL	42803189	0.908000	0.30866	0.000000	0.03702	0.000000	0.00434	1.538000	0.36094	-1.252000	0.02491	-1.269000	0.01422	TGG	TCEB3CL	-	pfam_RNA_pol_II_trans_fac_SIII_A	ENSG00000234298		0.597	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL	HGNC	protein_coding	OTTHUMT00000451071.1	317	0.62	2	A	XM_001132059		44549191	44549191	-1	no_errors	ENST00000451265	ensembl	human	known	69_37n	missense	160	11.11	20	SNP	0.000	C
TCERG1	10915	genome.wustl.edu	37	5	145843228	145843228	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:145843228A>C	ENST00000296702.5	+	5	1045	c.1007A>C	c.(1006-1008)cAc>cCc	p.H336P	TCERG1_ENST00000394421.2_Missense_Mutation_p.H336P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	336	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGCCGCACCCTCAGACG	0.527																																						dbGAP											0													264.0	223.0	237.0					5																	145843228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1007A>C	5.37:g.145843228A>C	ENSP00000296702:p.His336Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.H336P	ENST00000296702.5	37	c.1007	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887115	0.33348	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.22539	1.95;2.04	5.16	5.16	0.70880	.	0.268140	0.28908	N	0.013750	T	0.13329	0.0323	L	0.34521	1.04	0.28607	N	0.90885	P;B;B	0.36144	0.539;0.171;0.107	B;B;B	0.28709	0.062;0.093;0.043	T	0.13150	-1.0520	10	0.34782	T	0.22	-10.7589	8.8504	0.35196	0.7096:0.0:0.0:0.2904	.	336;336;336	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	P	336	ENSP00000296702:H336P;ENSP00000377943:H336P	ENSP00000296702:H336P	H	+	2	0	TCERG1	145823421	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.909000	0.56363	1.937000	0.56155	0.460000	0.39030	CAC	TCERG1	-	NULL	ENSG00000113649		0.527	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	253	0.39	1	A	NM_001040006		145843228	145843228	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	missense	195	18.67	45	SNP	0.998	C
TCERG1	10915	genome.wustl.edu	37	5	145843286	145843286	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:145843286A>C	ENST00000296702.5	+	5	1103	c.1065A>C	c.(1063-1065)atA>atC	p.I355I	TCERG1_ENST00000394421.2_Silent_p.I355I	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	355	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACAGCAATACCTGCTTTTC	0.512																																						dbGAP											0													269.0	225.0	240.0					5																	145843286		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1065A>C	5.37:g.145843286A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.I355	ENST00000296702.5	37	c.1065	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.512	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	286	0.35	1	A	NM_001040006		145843286	145843286	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	silent	198	10.81	24	SNP	1.000	C
TCF12	6938	genome.wustl.edu	37	15	57523418	57523418	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:57523418A>C	ENST00000267811.5	+	9	952	c.648A>C	c.(646-648)ccA>ccC	p.P216P	TCF12_ENST00000343827.3_Silent_p.P46P|TCF12_ENST00000333725.5_Silent_p.P216P|TCF12_ENST00000438423.2_Silent_p.P216P|TCF12_ENST00000557843.1_Silent_p.P216P|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Silent_p.P46P|TCF12_ENST00000537840.1_Missense_Mutation_p.H27P|TCF12_ENST00000452095.2_Silent_p.P212P	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	216					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTCCTAAGCCACCAACCAGTA	0.363			T	TEC	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0													168.0	151.0	157.0					15																	57523418		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.648A>C	15.37:g.57523418A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.H27P	ENST00000267811.5	37	c.80	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843910	0.32606	.	.	ENSG00000140262	ENST00000537840	T	0.26660	1.72	5.44	4.31	0.51392	.	.	.	.	.	T	0.15219	0.0367	.	.	.	0.80722	D	1	B	0.17465	0.022	B	0.06405	0.002	T	0.09143	-1.0688	7	.	.	.	-6.7334	6.6397	0.22903	0.7908:0.0:0.0727:0.1365	.	27	B4E1W1	.	P	27	ENSP00000444696:H27P	.	H	+	2	0	TCF12	55310710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.996000	0.40776	1.002000	0.39104	0.529000	0.55759	CAC	TCF12	-	NULL	ENSG00000140262		0.363	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	187	0.00	0	A	NM_003205		57523418	57523418	+1	no_errors	ENST00000537840	ensembl	human	novel	69_37n	missense	176	11.11	22	SNP	1.000	C
TCF20	6942	genome.wustl.edu	37	22	42605810	42605810	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42605810A>C	ENST00000359486.3	-	1	5638	c.5502T>G	c.(5500-5502)ggT>ggG	p.G1834G	TCF20_ENST00000404876.1_Silent_p.G135G|TCF20_ENST00000335626.4_Silent_p.G1834G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1834					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTCAGGGCCACCTTCTGAAG	0.527																																						dbGAP											0													130.0	133.0	132.0					22																	42605810		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5502T>G	22.37:g.42605810A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	smart_Znf_PHD	p.G1834	ENST00000359486.3	37	c.5502	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.527	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	444	0.67	3	A	NM_181492		42605810	42605810	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	silent	277	12.77	41	SNP	0.886	C
TCF20	6942	genome.wustl.edu	37	22	42607082	42607082	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42607082A>C	ENST00000359486.3	-	1	4366	c.4230T>G	c.(4228-4230)ggT>ggG	p.G1410G	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.G1410G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AAGCCACCTCACCTTTTCTCT	0.507																																						dbGAP											0													123.0	120.0	121.0					22																	42607082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4230T>G	22.37:g.42607082A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	smart_Znf_PHD	p.G1410	ENST00000359486.3	37	c.4230	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	301	0.33	1	A	NM_181492		42607082	42607082	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	silent	142	14.97	25	SNP	0.777	C
TCF20	6942	genome.wustl.edu	37	22	42609386	42609386	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42609386A>C	ENST00000359486.3	-	1	2062	c.1926T>G	c.(1924-1926)ggT>ggG	p.G642G	TCF20_ENST00000335626.4_Silent_p.G642G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTTGCCCCACCATTGCTAG	0.542																																						dbGAP											0													78.0	68.0	71.0					22																	42609386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1926T>G	22.37:g.42609386A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	smart_Znf_PHD	p.G642	ENST00000359486.3	37	c.1926	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	243	0.82	2	A	NM_181492		42609386	42609386	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	silent	116	16.55	23	SNP	0.033	C
TCF20	6942	genome.wustl.edu	37	22	42609449	42609449	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42609449A>C	ENST00000359486.3	-	1	1999	c.1863T>G	c.(1861-1863)ggT>ggG	p.G621G	TCF20_ENST00000335626.4_Silent_p.G621G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCTTGTCCACCAGGCTTTT	0.532																																						dbGAP											0													74.0	72.0	73.0					22																	42609449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1863T>G	22.37:g.42609449A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	smart_Znf_PHD	p.G621	ENST00000359486.3	37	c.1863	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.532	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	232	0.00	0	A	NM_181492		42609449	42609449	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	silent	115	17.27	24	SNP	1.000	C
TCF20	6942	genome.wustl.edu	37	22	42609495	42609495	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42609495A>C	ENST00000359486.3	-	1	1953	c.1817T>G	c.(1816-1818)gTg>gGg	p.V606G	TCF20_ENST00000335626.4_Missense_Mutation_p.V606G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGAGACAATCACCCCAACAGT	0.552																																						dbGAP											0													88.0	84.0	86.0					22																	42609495		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1817T>G	22.37:g.42609495A>C	ENSP00000352463:p.Val606Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.V606G	ENST00000359486.3	37	c.1817	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275645	0.59649	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.65364	-0.15;-0.15	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.69566	0.3125	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.73639	-0.3919	10	0.87932	D	0	-14.2404	16.8222	0.85835	1.0:0.0:0.0:0.0	.	606;606	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	G	606	ENSP00000352463:V606G;ENSP00000335561:V606G	ENSP00000335561:V606G	V	-	2	0	TCF20	40939439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.792000	0.75125	2.371000	0.80710	0.533000	0.62120	GTG	TCF20	-	NULL	ENSG00000100207		0.552	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	247	0.80	2	A	NM_181492		42609495	42609495	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	missense	123	16.78	25	SNP	1.000	C
TDP1	55775	genome.wustl.edu	37	14	90509477	90509477	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:90509477T>G	ENST00000335725.4	+	17	2067	c.1817T>G	c.(1816-1818)gTg>gGg	p.V606G	TDP1_ENST00000555880.1_Missense_Mutation_p.C570G|TDP1_ENST00000357382.3_Missense_Mutation_p.V367G|TDP1_ENST00000393454.2_Missense_Mutation_p.V606G|TDP1_ENST00000393452.3_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	606					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AACATGTGGGTGCCCTCCTGA	0.418								Repair of DNA-protein crosslinks																														dbGAP											0													102.0	90.0	94.0					14																	90509477		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1817T>G	14.37:g.90509477T>G	ENSP00000337353:p.Val606Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.V606G	ENST00000335725.4	37	c.1817	CCDS9888.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.79|16.79	3.220271|3.220271	0.58560|0.58560	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000555880|ENST00000393454;ENST00000335725;ENST00000357382	T|T;T;T	0.28255|0.64260	1.62|-0.09;-0.09;-0.09	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.228660	.|0.41294	.|D	.|0.000917	T|T	0.67896|0.67896	0.2942|0.2942	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	B|P;D	0.15473|0.58268	0.013|0.842;0.982	B|B;P	0.19391|0.50791	0.025|0.296;0.65	T|T	0.66897|0.66897	-0.5807|-0.5807	8|10	.|0.22706	.|T	.|0.39	-16.4346|-16.4346	12.1027|12.1027	0.53794|0.53794	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	570|367;606	G3V2F4|Q86TV8;Q9NUW8	.|.;TYDP1_HUMAN	G|G	570|606;606;367	ENSP00000450628:C570G|ENSP00000377099:V606G;ENSP00000337353:V606G;ENSP00000349952:V367G	.|ENSP00000337353:V606G	C|V	+|+	1|2	0|0	TDP1|TDP1	89579230|89579230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.922000|4.922000	0.63404|0.63404	2.115000|2.115000	0.64714|0.64714	0.528000|0.528000	0.53228|0.53228	TGC|GTG	TDP1	-	NULL	ENSG00000042088		0.418	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	47	0.00	0	T	NM_018319		90509477	90509477	+1	no_errors	ENST00000335725	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	G
TCL6	27004	genome.wustl.edu	37	14	96128936	96128936	+	RNA	SNP	A	A	C	rs8009792		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:96128936A>C	ENST00000467865.1	+	0	0				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GAGAATATTTACCAGCCATGG	0.403			T	TRA@	T-ALL																																	dbGAP		Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0													267.0	262.0	264.0					14																	96128936		2203	4300	6503	-	-	-			0			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96128936A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-	ENSG00000187621		0.403	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	424	0.47	2	A	NM_012468		96128936	96128936	+1	no_errors	ENST00000459662	ensembl	human	known	69_37n	rna	253	26.38	91	SNP	0.002	C
TDP2	51567	genome.wustl.edu	37	6	24653380	24653380	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:24653380A>C	ENST00000378198.4	-	6	808	c.638T>G	c.(637-639)gTg>gGg	p.V213G	TDP2_ENST00000341060.3_Splice_Site_p.V155G|TDP2_ENST00000478285.1_5'Flank|TDP2_ENST00000545995.1_Splice_Site_p.V243G			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	213					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGACACGTTCACCTGCAGCAG	0.378								Direct reversal of damage																														dbGAP											0													164.0	174.0	171.0					6																	24653380		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.637-1T>G	6.37:g.24653380A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like	p.V243G	ENST00000378198.4	37	c.728	CCDS4557.1	6	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772445	0.49680	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.26223	1.75;1.75;1.75	5.13	-1.64	0.08318	Endonuclease/exonuclease/phosphatase (2);	0.173352	0.50627	D	0.000105	T	0.12646	0.0307	L	0.59912	1.85	0.80722	D	1	B;B	0.24092	0.097;0.024	B;B	0.29267	0.053;0.1	T	0.16100	-1.0414	10	0.87932	D	0	-3.199	11.1803	0.48625	0.5393:0.0:0.4607:0.0	.	243;213	O95551-2;O95551	.;TYDP2_HUMAN	G	213;243;135;155	ENSP00000367440:V213G;ENSP00000437637:V243G;ENSP00000345345:V155G	ENSP00000345345:V155G	V	-	2	0	TDP2	24761359	0.998000	0.40836	0.150000	0.22450	0.364000	0.29643	1.131000	0.31406	-0.202000	0.10268	0.533000	0.62120	GTG	TDP2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000111802		0.378	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1	303	0.00	0	A		Missense_Mutation	24653380	24653380	-1	no_errors	ENST00000545995	ensembl	human	known	69_37n	missense	275	13.17	42	SNP	0.877	C
TDRD3	81550	genome.wustl.edu	37	13	61141757	61141757	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:61141757A>C	ENST00000196169.3	+	13	2726	c.1938A>C	c.(1936-1938)ccA>ccC	p.P646P	TDRD3_ENST00000377894.2_Silent_p.P646P|TDRD3_ENST00000535286.1_Silent_p.P739P|TDRD3_ENST00000377881.2_Silent_p.P646P	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	646	EBM motif; may mediate interaction with the EJC.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTTACCAACCACCCCGGGCTC	0.443																																					Colon(36;164 906 35820 50723)	dbGAP											0													84.0	76.0	79.0					13																	61141757		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1938A>C	13.37:g.61141757A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2MWP9|Q53XA6|Q6P992	Silent	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.P739	ENST00000196169.3	37	c.2217	CCDS9441.1	13																																																																																			TDRD3	-	NULL	ENSG00000083544		0.443	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	110	0.00	0	A	NM_030794		61141757	61141757	+1	no_errors	ENST00000535286	ensembl	human	known	69_37n	silent	115	14.81	20	SNP	1.000	C
TDRD7	23424	genome.wustl.edu	37	9	100234614	100234614	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:100234614T>G	ENST00000355295.4	+	10	2076	c.1781T>G	c.(1780-1782)gTg>gGg	p.V594G	TDRD7_ENST00000540902.1_5'UTR|TDRD7_ENST00000422139.2_Missense_Mutation_p.V520G	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	594					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CTAGTGAAGGTGGTTGAATCT	0.353																																						dbGAP											0													169.0	164.0	165.0					9																	100234614		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1781T>G	9.37:g.100234614T>G	ENSP00000347444:p.Val594Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.V594G	ENST00000355295.4	37	c.1781	CCDS6725.1	9	.	.	.	.	.	.	.	.	.	.	T	9.672	1.147092	0.21288	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.12569	2.67;2.67	5.03	2.6	0.31112	.	0.439875	0.25361	N	0.031229	T	0.07098	0.0180	N	0.14661	0.345	0.80722	D	1	B	0.20887	0.049	B	0.22386	0.039	T	0.33828	-0.9853	10	0.19590	T	0.45	-6.5944	7.5666	0.27883	0.0:0.331:0.0:0.669	.	594	Q8NHU6	TDRD7_HUMAN	G	594;520	ENSP00000347444:V594G;ENSP00000413608:V520G	ENSP00000347444:V594G	V	+	2	0	TDRD7	99274435	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	0.769000	0.26604	0.422000	0.26005	-0.250000	0.11733	GTG	TDRD7	-	NULL	ENSG00000196116		0.353	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	233	0.00	0	T	NM_014290		100234614	100234614	+1	no_errors	ENST00000355295	ensembl	human	known	69_37n	missense	139	16.67	28	SNP	0.998	G
TEAD4	7004	genome.wustl.edu	37	12	3147261	3147261	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:3147261T>G	ENST00000397122.2	+	9	923	c.638T>G	c.(637-639)gTg>gGg	p.V213G	TEAD4_ENST00000358409.2_Missense_Mutation_p.V299G|TEAD4_ENST00000359864.2_Missense_Mutation_p.V342G	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	342					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AAGCAGGTGGTGGAGAAAGTT	0.582																																						dbGAP											0													83.0	79.0	80.0					12																	3147261		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.638T>G	12.37:g.3147261T>G	ENSP00000380311:p.Val213Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.V342G	ENST00000397122.2	37	c.1025	CCDS41737.1	12	.	.	.	.	.	.	.	.	.	.	T	19.52	3.842876	0.71488	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.35421	1.31;1.31;1.31	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75365	-0.3343	10	0.72032	D	0.01	-17.9313	13.4969	0.61432	0.0:0.0:0.0:1.0	.	342	Q15561	TEAD4_HUMAN	G	299;342;213	ENSP00000351184:V299G;ENSP00000352926:V342G;ENSP00000380311:V213G	ENSP00000351184:V299G	V	+	2	0	TEAD4	3017522	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.930000	0.87610	1.773000	0.52216	0.533000	0.62120	GTG	TEAD4	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000197905		0.582	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1	53	0.00	0	T	NM_003213		3147261	3147261	+1	no_errors	ENST00000359864	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	1.000	G
TECTA	7007	genome.wustl.edu	37	11	121016771	121016771	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:121016771A>C	ENST00000392793.1	+	12	4322	c.4051A>C	c.(4051-4053)Acc>Ccc	p.T1351P	TECTA_ENST00000264037.2_Missense_Mutation_p.T1351P|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1351					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTACGCCAGCACCTGCCAGAC	0.552																																						dbGAP											0													82.0	75.0	78.0					11																	121016771		2196	4286	6482	-	-	-	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4051A>C	11.37:g.121016771A>C	ENSP00000376543:p.Thr1351Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.T1351P	ENST00000392793.1	37	c.4051	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559429	0.86335	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77098	-1.07;-1.07	5.84	4.73	0.59995	Uncharacterised domain, cysteine-rich (2);	0.055323	0.64402	D	0.000001	D	0.84215	0.5423	M	0.78637	2.42	0.46356	D	0.999005	D	0.58620	0.983	P	0.57057	0.812	D	0.86002	0.1495	10	0.66056	D	0.02	.	11.3257	0.49448	0.9294:0.0:0.0706:0.0	.	1351	O75443	TECTA_HUMAN	P	1351	ENSP00000376543:T1351P;ENSP00000264037:T1351P	ENSP00000264037:T1351P	T	+	1	0	TECTA	120521981	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.348000	0.73009	2.220000	0.72140	0.482000	0.46254	ACC	TECTA	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000109927		0.552	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	92	0.00	0	A	NM_005422		121016771	121016771	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	missense	73	24.74	24	SNP	1.000	C
TEK	7010	genome.wustl.edu	37	9	27157842	27157842	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:27157842T>G	ENST00000380036.4	+	2	508	c.66T>G	c.(64-66)ggT>ggG	p.G22G	TEK_ENST00000406359.4_Silent_p.G22G|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	22					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTGTGGAAGGTGCCATGGACT	0.458																																						dbGAP											0													186.0	160.0	169.0					9																	27157842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.66T>G	9.37:g.27157842T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G22	ENST00000380036.4	37	c.66	CCDS6519.1	9																																																																																			TEK	-	NULL	ENSG00000120156		0.458	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	210	0.47	1	T			27157842	27157842	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	silent	129	13.91	21	SNP	0.995	G
TEKT1	83659	genome.wustl.edu	37	17	6704180	6704180	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:6704180A>C	ENST00000338694.2	-	7	1064	c.935T>G	c.(934-936)gTg>gGg	p.V312G	TEKT1_ENST00000535086.1_Missense_Mutation_p.V166G	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	312						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CGTATGAGCCACCTTGGCTGG	0.493											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													194.0	185.0	188.0					17																	6704180		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.935T>G	17.37:g.6704180A>C	ENSP00000341346:p.Val312Gly	Somatic	636	WXS	Illumina GAIIx	Phase_IV	D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.V312G	ENST00000338694.2	37	c.935	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164399	0.78339	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.04156	3.69;3.69	5.85	5.85	0.93711	.	0.341399	0.31472	N	0.007588	T	0.29223	0.0727	M	0.92507	3.315	0.80722	D	1	D	0.59767	0.986	D	0.72075	0.976	T	0.17289	-1.0374	10	0.87932	D	0	.	14.4944	0.67674	1.0:0.0:0.0:0.0	.	312	Q969V4	TEKT1_HUMAN	G	312;166	ENSP00000341346:V312G;ENSP00000444142:V166G	ENSP00000341346:V312G	V	-	2	0	TEKT1	6644904	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	6.587000	0.74071	2.371000	0.80710	0.533000	0.62120	GTG	TEKT1	-	pfam_Tektin,prints_Tektin	ENSG00000167858		0.493	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	199	0.50	1	A	NM_053285		6704180	6704180	-1	no_errors	ENST00000338694	ensembl	human	known	69_37n	missense	124	16.22	24	SNP	1.000	C
TEKT5	146279	genome.wustl.edu	37	16	10788505	10788505	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:10788505T>G	ENST00000283025.2	-	1	297	c.226A>C	c.(226-228)Acc>Ccc	p.T76P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	76						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCAGGATGGTGGGCGGCCGC	0.647																																						dbGAP											0													86.0	99.0	95.0					16																	10788505		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.226A>C	16.37:g.10788505T>G	ENSP00000283025:p.Thr76Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.T76P	ENST00000283025.2	37	c.226	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785747	0.31593	.	.	ENSG00000153060	ENST00000283025	T	0.03301	3.98	5.31	2.91	0.33838	.	0.000000	0.64402	D	0.000005	T	0.10208	0.0250	M	0.64997	1.995	0.47214	D	0.999354	D	0.64830	0.994	P	0.58331	0.837	T	0.04976	-1.0914	10	0.35671	T	0.21	-36.2091	9.537	0.39229	0.2812:0.0:0.0:0.7188	.	76	Q96M29	TEKT5_HUMAN	P	76	ENSP00000283025:T76P	ENSP00000283025:T76P	T	-	1	0	TEKT5	10696006	0.998000	0.40836	0.618000	0.29105	0.011000	0.07611	0.400000	0.20932	0.336000	0.23639	0.533000	0.62120	ACC	TEKT5	-	NULL	ENSG00000153060		0.647	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	54	0.00	0	T	NM_144674		10788505	10788505	-1	no_errors	ENST00000283025	ensembl	human	known	69_37n	missense	29	16.67	6	SNP	0.991	G
TEP1	7011	genome.wustl.edu	37	14	20874451	20874451	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20874451T>G	ENST00000262715.5	-	3	716	c.676A>C	c.(676-678)Acc>Ccc	p.T226P	TEP1_ENST00000556935.1_Missense_Mutation_p.T226P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	226	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTCCAGAGGTGAGCTTCACG	0.478																																						dbGAP											0													134.0	115.0	121.0					14																	20874451		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.676A>C	14.37:g.20874451T>G	ENSP00000262715:p.Thr226Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T226P	ENST00000262715.5	37	c.676	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	T	5.107	0.205386	0.09704	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15372	2.43;2.43	5.05	1.39	0.22231	TROVE (2);	0.778373	0.11674	N	0.540595	T	0.23766	0.0575	L	0.54323	1.7	0.09310	N	1	P;D	0.53462	0.95;0.96	P;P	0.54815	0.648;0.761	T	0.12863	-1.0531	10	0.66056	D	0.02	-7.7796	3.0679	0.06220	0.1772:0.1888:0.0:0.634	.	226;226	G3V5X7;Q99973	.;TEP1_HUMAN	P	226	ENSP00000262715:T226P;ENSP00000452574:T226P	ENSP00000262715:T226P	T	-	1	0	TEP1	19944291	0.000000	0.05858	0.023000	0.16930	0.001000	0.01503	-0.201000	0.09464	0.457000	0.26962	-0.263000	0.10527	ACC	TEP1	-	pfam_TROVE,pfscan_TROVE	ENSG00000129566		0.478	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	271	0.00	0	T	NM_007110		20874451	20874451	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	223	10.44	26	SNP	0.004	G
TESK1	7016	genome.wustl.edu	37	9	35607581	35607581	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35607581A>G	ENST00000336395.5	+	6	873	c.623A>G	c.(622-624)gAg>gGg	p.E208G	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCAGGGAGGGGGCAAGG	0.592																																						dbGAP											0													99.0	98.0	98.0					9																	35607581		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.623A>G	9.37:g.35607581A>G	ENSP00000338127:p.Glu208Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ8	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E208G	ENST00000336395.5	37	c.623	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730462	0.48939	.	.	ENSG00000107140	ENST00000336395	T	0.66460	-0.21	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146929	0.31279	N	0.007925	T	0.51686	0.1689	L	0.33485	1.01	0.46499	D	0.999076	B;P	0.35944	0.182;0.529	B;B	0.28465	0.066;0.09	T	0.54463	-0.8290	10	0.38643	T	0.18	-2.0589	12.7425	0.57261	1.0:0.0:0.0:0.0	.	126;208	B4DQQ3;Q15569	.;TESK1_HUMAN	G	208	ENSP00000338127:E208G	ENSP00000338127:E208G	E	+	2	0	TESK1	35597581	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.212000	0.65225	2.007000	0.58848	0.459000	0.35465	GAG	TESK1	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000107140		0.592	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	82	0.00	0	A	NM_006285		35607581	35607581	+1	no_errors	ENST00000336395	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	G
TESPA1	9840	genome.wustl.edu	37	12	55357619	55357619	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:55357619T>G	ENST00000449076.1	-	8	694	c.562A>C	c.(562-564)Acc>Ccc	p.T188P	TESPA1_ENST00000531122.1_Missense_Mutation_p.T50P|TESPA1_ENST00000532804.1_Missense_Mutation_p.T50P|TESPA1_ENST00000316577.8_Missense_Mutation_p.T188P|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_Missense_Mutation_p.T50P	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	188					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TGAGAGGGGGTGGTGAAAAAT	0.537																																						dbGAP											0													106.0	110.0	109.0					12																	55357619		1893	4108	6001	-	-	-	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.562A>C	12.37:g.55357619T>G	ENSP00000400892:p.Thr188Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.T188P	ENST00000449076.1	37	c.562	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196836	0.38806	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532;ENST00000533446	T;T;T;T;T	0.46451	0.87;0.87;0.89;0.89;0.87	5.36	3.04	0.35103	.	0.524069	0.21911	N	0.067317	T	0.18923	0.0454	N	0.08118	0	0.26577	N	0.973452	P	0.36315	0.547	B	0.35470	0.203	T	0.06826	-1.0805	10	0.52906	T	0.07	-3.4652	3.3242	0.07061	0.1693:0.1777:0.0:0.653	.	188	A2RU30	K0748_HUMAN	P	50;50;188;188;50;50;50;50	ENSP00000435622:T50P;ENSP00000432030:T50P;ENSP00000400892:T188P;ENSP00000312679:T188P;ENSP00000433098:T50P	ENSP00000312679:T188P	T	-	1	0	KIAA0748	53643886	0.035000	0.19736	0.972000	0.41901	0.847000	0.48162	1.107000	0.31110	1.112000	0.41740	-0.290000	0.09829	ACC	TESPA1	-	NULL	ENSG00000135426		0.537	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	255	0.78	2	T	NM_001098815		55357619	55357619	-1	no_errors	ENST00000316577	ensembl	human	known	69_37n	missense	151	22.05	43	SNP	0.980	G
TESPA1	9840	genome.wustl.edu	37	12	55357622	55357622	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:55357622T>G	ENST00000449076.1	-	8	691	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	TESPA1_ENST00000531122.1_Missense_Mutation_p.T49P|TESPA1_ENST00000532804.1_Missense_Mutation_p.T49P|TESPA1_ENST00000316577.8_Missense_Mutation_p.T187P|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_Missense_Mutation_p.T49P	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	187					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GAGGGGGTGGTGAAAAATCGG	0.532																																						dbGAP											0													109.0	112.0	111.0					12																	55357622		1891	4110	6001	-	-	-	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.559A>C	12.37:g.55357622T>G	ENSP00000400892:p.Thr187Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.T187P	ENST00000449076.1	37	c.559	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806701	0.50421	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532;ENST00000533446	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.36	3.02	0.34903	.	0.326904	0.31461	N	0.007605	T	0.34571	0.0902	N	0.14661	0.345	0.27957	N	0.936932	D	0.57571	0.98	P	0.53649	0.731	T	0.16012	-1.0417	10	0.52906	T	0.07	-13.402	1.8526	0.03172	0.1683:0.0881:0.1761:0.5676	.	187	A2RU30	K0748_HUMAN	P	49;49;187;187;49;49;49;49	ENSP00000435622:T49P;ENSP00000432030:T49P;ENSP00000400892:T187P;ENSP00000312679:T187P;ENSP00000433098:T49P	ENSP00000312679:T187P	T	-	1	0	KIAA0748	53643889	0.891000	0.30450	1.000000	0.80357	0.884000	0.51177	1.272000	0.33109	1.096000	0.41439	-0.333000	0.08304	ACC	TESPA1	-	NULL	ENSG00000135426		0.532	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	254	0.78	2	T	NM_001098815		55357622	55357622	-1	no_errors	ENST00000316577	ensembl	human	known	69_37n	missense	160	19.60	39	SNP	0.999	G
TEX13B	56156	genome.wustl.edu	37	X	107224703	107224703	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:107224703A>C	ENST00000302917.1	-	3	638	c.546T>G	c.(544-546)ggT>ggG	p.G182G		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	182										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TTTCCTGCTCACCTGCTCCTT	0.637																																						dbGAP											0													96.0	108.0	104.0					X																	107224703		2195	4293	6488	-	-	-	SO:0001819	synonymous_variant	0			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.546T>G	X.37:g.107224703A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYF6	Silent	SNP	NULL	p.G182	ENST00000302917.1	37	c.546	CCDS14534.1	X																																																																																			TEX13B	-	NULL	ENSG00000170925		0.637	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	272	0.73	2	A			107224703	107224703	-1	no_errors	ENST00000302917	ensembl	human	known	69_37n	silent	239	14.89	42	SNP	0.000	C
TEX14	56155	genome.wustl.edu	37	17	56663437	56663437	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:56663437A>C	ENST00000240361.8	-	18	2898	c.2813T>G	c.(2812-2814)gTg>gGg	p.V938G	TEX14_ENST00000389934.3_Missense_Mutation_p.V932G|TEX14_ENST00000349033.5_Missense_Mutation_p.V932G			Q8IWB6	TEX14_HUMAN	testis expressed 14	938					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTTCTTTCACCTCCACTGT	0.413																																						dbGAP											0													106.0	106.0	106.0					17																	56663437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2813T>G	17.37:g.56663437A>C	ENSP00000240361:p.Val938Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.V938G	ENST00000240361.8	37	c.2813	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801062	0.70567	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.87809	-2.3;-2.29;-2.17	5.61	5.61	0.85477	.	0.096208	0.45361	D	0.000368	D	0.91774	0.7398	M	0.64997	1.995	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92398	0.5927	10	0.87932	D	0	-12.8755	12.1929	0.54280	1.0:0.0:0.0:0.0	.	938;932;932	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	G	938;932;932	ENSP00000240361:V938G;ENSP00000374584:V932G;ENSP00000268910:V932G	ENSP00000240361:V938G	V	-	2	0	TEX14	54018436	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	4.559000	0.60796	2.133000	0.65898	0.454000	0.30748	GTG	TEX14	-	NULL	ENSG00000121101		0.413	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	107	0.00	0	A			56663437	56663437	-1	no_errors	ENST00000240361	ensembl	human	known	69_37n	missense	82	23.85	26	SNP	0.999	C
TFAP2B	7021	genome.wustl.edu	37	6	50808006	50808006	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:50808006A>C	ENST00000393655.3	+	6	1247	c.1078A>C	c.(1078-1080)Acc>Ccc	p.T360P	TFAP2B_ENST00000263046.4_Missense_Mutation_p.T369P	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	360					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCTGTTGGCCACCAAGTGAGT	0.557																																					Pancreas(116;1373 2332 5475 10752)	dbGAP											0													81.0	80.0	81.0					6																	50808006		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1078A>C	6.37:g.50808006A>C	ENSP00000377265:p.Thr360Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.T369P	ENST00000393655.3	37	c.1105	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	A	30	5.055280	0.93793	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97138	-4.26;-4.26	5.49	5.49	0.81192	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99827	1.1051	10	0.87932	D	0	-18.0282	15.5925	0.76543	1.0:0.0:0.0:0.0	.	360	Q92481	AP2B_HUMAN	P	360;369	ENSP00000377265:T360P;ENSP00000263046:T369P	ENSP00000263046:T369P	T	+	1	0	TFAP2B	50915965	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.094000	0.63399	0.533000	0.62120	ACC	TFAP2B	-	pfam_TF_AP2_C	ENSG00000008196		0.557	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	145	0.00	0	A	NM_003221		50808006	50808006	+1	no_errors	ENST00000263046	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	1.000	C
TFE3	7030	genome.wustl.edu	37	X	48887886	48887886	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:48887886T>G	ENST00000315869.7	-	10	1770	c.1511A>C	c.(1510-1512)cAc>cCc	p.H504P	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	504					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GCTGGGAAAGTGCAGGTCCAG	0.662			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													67.0	67.0	67.0					X																	48887886		2203	4297	6500	-	-	-	SO:0001583	missense	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1511A>C	X.37:g.48887886T>G	ENSP00000314129:p.His504Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.H504P	ENST00000315869.7	37	c.1511	CCDS14315.3	X	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094358	0.56075	.	.	ENSG00000068323	ENST00000315869	T	0.63417	-0.04	5.51	5.51	0.81932	.	0.916504	0.09000	U	0.863087	T	0.49167	0.1541	N	0.24115	0.695	0.36070	D	0.842049	B	0.12630	0.006	B	0.12837	0.008	T	0.45249	-0.9274	10	0.27082	T	0.32	-8.9747	10.1721	0.42915	0.0:0.0:0.1648:0.8352	.	504	P19532	TFE3_HUMAN	P	504	ENSP00000314129:H504P	ENSP00000314129:H504P	H	-	2	0	TFE3	48774830	0.955000	0.32602	1.000000	0.80357	0.974000	0.67602	0.509000	0.22707	1.849000	0.53698	0.414000	0.27820	CAC	TFE3	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000068323		0.662	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	70	0.00	0	T	NM_006521		48887886	48887886	-1	no_errors	ENST00000315869	ensembl	human	known	69_37n	missense	73	19.78	18	SNP	1.000	G
TFIP11	24144	genome.wustl.edu	37	22	26890269	26890269	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:26890269A>C	ENST00000407690.1	-	14	2277	c.1994T>G	c.(1993-1995)gTg>gGg	p.V665G	SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407431.1_Splice_Site_p.V665G|TFIP11_ENST00000407148.1_Splice_Site_p.V665G|TFIP11_ENST00000405938.1_Splice_Site_p.V665G	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	665					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAGCACAGCACCTGCCAAAA	0.463																																						dbGAP											0													84.0	75.0	78.0					22																	26890269		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1993-1T>G	22.37:g.26890269A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.V665G	ENST00000407690.1	37	c.1994	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430413	0.83776	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.3	5.3	0.74995	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.87617	2.895	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.83275	0.996;0.88	T	0.76921	-0.2780	10	0.56958	D	0.05	-46.0009	14.5888	0.68347	1.0:0.0:0.0:0.0	.	665;24	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	G	665;665;665;350;665	ENSP00000384421:V665G;ENSP00000383892:V665G;ENSP00000385861:V665G;ENSP00000384297:V665G	ENSP00000384297:V665G	V	-	2	0	TFIP11	25220269	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.803000	0.91915	2.235000	0.73313	0.533000	0.62120	GTG	TFIP11	-	pfam_GCFC_dom	ENSG00000100109		0.463	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	118	0.84	1	A	NM_001008697	Missense_Mutation	26890269	26890269	-1	no_errors	ENST00000405938	ensembl	human	known	69_37n	missense	71	25.26	24	SNP	1.000	C
TGM1	7051	genome.wustl.edu	37	14	24729843	24729843	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24729843A>C	ENST00000206765.6	-	4	693	c.570T>G	c.(568-570)agT>agG	p.S190R	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	190					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S190S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCCAGCCTCCACTGCCCCCCT	0.592																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											138.0	119.0	125.0					14																	24729843		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.570T>G	14.37:g.24729843A>C	ENSP00000206765:p.Ser190Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S190R	ENST00000206765.6	37	c.570	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463616	0.63513	.	.	ENSG00000092295	ENST00000206765	D	0.84730	-1.89	5.93	-4.65	0.03339	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.194481	0.56097	D	0.000037	D	0.82728	0.5100	L	0.39467	1.215	0.53005	D	0.999968	D	0.59357	0.985	P	0.58013	0.831	T	0.80122	-0.1514	10	0.22706	T	0.39	-21.2135	13.347	0.60580	0.5029:0.0:0.4971:0.0	.	190	P22735	TGM1_HUMAN	R	190	ENSP00000206765:S190R	ENSP00000206765:S190R	S	-	3	2	TGM1	23799683	0.003000	0.15002	0.661000	0.29709	0.899000	0.52679	-0.026000	0.12392	-0.774000	0.04590	0.460000	0.39030	AGT	TGM1	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000092295		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	45	0.00	0	A	NM_000359		24729843	24729843	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.333	C
TGM1	7051	genome.wustl.edu	37	14	24730919	24730919	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24730919T>G	ENST00000206765.6	-	3	613	c.490A>C	c.(490-492)Acc>Ccc	p.T164P	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	164					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AACTCAAGGGTGATGCGATCA	0.562																																						dbGAP											0													129.0	112.0	117.0					14																	24730919		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.490A>C	14.37:g.24730919T>G	ENSP00000206765:p.Thr164Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T164P	ENST00000206765.6	37	c.490	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385215	0.25031	.	.	ENSG00000092295	ENST00000206765	D	0.85171	-1.95	4.95	0.44	0.16572	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.788539	0.12273	N	0.483664	T	0.78660	0.4318	L	0.56199	1.76	0.28306	N	0.92288	B	0.17465	0.022	B	0.23275	0.045	T	0.66148	-0.5996	10	0.36615	T	0.2	-2.0967	5.2116	0.15320	0.2291:0.5034:0.0:0.2675	.	164	P22735	TGM1_HUMAN	P	164	ENSP00000206765:T164P	ENSP00000206765:T164P	T	-	1	0	TGM1	23800759	0.004000	0.15560	0.362000	0.25862	0.904000	0.53231	-0.149000	0.10204	0.163000	0.19507	0.379000	0.24179	ACC	TGM1	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000092295		0.562	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	62	0.00	0	T	NM_000359		24730919	24730919	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	30	18.42	7	SNP	0.117	G
TGM5	9333	genome.wustl.edu	37	15	43525842	43525842	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:43525842A>C	ENST00000220420.5	-	12	1926	c.1919T>G	c.(1918-1920)gTg>gGg	p.V640G	TGM5_ENST00000349114.4_Missense_Mutation_p.V558G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	640					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGAAAATATCACCTGTATGGA	0.493																																						dbGAP											0													78.0	76.0	77.0					15																	43525842		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1919T>G	15.37:g.43525842A>C	ENSP00000220420:p.Val640Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V640G	ENST00000220420.5	37	c.1919	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438259	0.83885	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.74526	-0.85;-0.85	5.62	5.62	0.85841	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.212459	0.39407	N	0.001371	D	0.86518	0.5952	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.989	D	0.88489	0.3074	10	0.87932	D	0	-19.8563	13.7576	0.62946	1.0:0.0:0.0:0.0	.	558;640	O43548-2;O43548	.;TGM5_HUMAN	G	640;558;639	ENSP00000220420:V640G;ENSP00000220419:V558G	ENSP00000220420:V640G	V	-	2	0	TGM5	41313134	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.128000	0.65567	0.533000	0.62120	GTG	TGM5	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000104055		0.493	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	79	0.00	0	A	NM_004245		43525842	43525842	-1	no_errors	ENST00000220420	ensembl	human	known	69_37n	missense	104	16.00	20	SNP	1.000	C
TGM7	116179	genome.wustl.edu	37	15	43574194	43574194	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:43574194A>C	ENST00000452443.2	-	9	1203	c.1199T>G	c.(1198-1200)gTg>gGg	p.V400G		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	400					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ATCGGCGTTCACCTCGGCATA	0.582																																						dbGAP											0													85.0	65.0	72.0					15																	43574194		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1199T>G	15.37:g.43574194A>C	ENSP00000389466:p.Val400Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V400G	ENST00000452443.2	37	c.1199	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397061	0.83120	.	.	ENSG00000159495	ENST00000452443	D	0.84800	-1.9	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95294	0.8397	10	0.87932	D	0	-24.3869	13.2172	0.59867	1.0:0.0:0.0:0.0	.	400	Q96PF1	TGM7_HUMAN	G	400	ENSP00000389466:V400G	ENSP00000389466:V400G	V	-	2	0	TGM7	41361486	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.095000	0.94175	2.012000	0.59069	0.533000	0.62120	GTG	TGM7	-	NULL	ENSG00000159495		0.582	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	41	0.00	0	A	NM_052955		43574194	43574194	-1	no_errors	ENST00000452443	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	1.000	C
THAP9	79725	genome.wustl.edu	37	4	83838855	83838855	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:83838855A>C	ENST00000302236.5	+	5	1541	c.1490A>C	c.(1489-1491)gAc>gCc	p.D497A	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	497					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTATCCTTAGACCTGCCACCT	0.348																																						dbGAP											0													164.0	174.0	171.0					4																	83838855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1490A>C	4.37:g.83838855A>C	ENSP00000305533:p.Asp497Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.D497A	ENST00000302236.5	37	c.1490	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	A	0.055	-1.239242	0.01493	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90504	-2.68	3.87	1.06	0.20224	.	0.708276	0.12871	N	0.432309	T	0.77745	0.4176	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.64228	-0.6457	10	0.32370	T	0.25	-1.2902	7.1671	0.25698	0.2967:0.0:0.7033:0.0	.	497	Q9H5L6	THAP9_HUMAN	A	497	ENSP00000305533:D497A	ENSP00000305533:D497A	D	+	2	0	THAP9	84057879	0.943000	0.32029	0.036000	0.18154	0.030000	0.12068	1.265000	0.33027	0.223000	0.20920	-0.177000	0.13119	GAC	THAP9	-	NULL	ENSG00000168152		0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	280	0.00	0	A	NM_024672		83838855	83838855	+1	no_errors	ENST00000302236	ensembl	human	known	69_37n	missense	298	10.45	35	SNP	0.027	C
THBS4	7060	genome.wustl.edu	37	5	79368165	79368165	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:79368165T>G	ENST00000350881.2	+	14	1975	c.1785T>G	c.(1783-1785)ggT>ggG	p.G595G	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.G504G	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	595					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACAAGGATGGTGATGGTGTGG	0.468																																						dbGAP											0													314.0	313.0	314.0					5																	79368165		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1785T>G	5.37:g.79368165T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G595	ENST00000350881.2	37	c.1785	CCDS4049.1	5																																																																																			THBS4	-	pfam_Thrombospondin_3-like_rpt	ENSG00000113296		0.468	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	337	0.30	1	T			79368165	79368165	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	silent	286	13.29	44	SNP	0.560	G
THEMIS	387357	genome.wustl.edu	37	6	128134916	128134916	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:128134916T>G	ENST00000368248.2	-	4	1018	c.870A>C	c.(868-870)gcA>gcC	p.A290A	THEMIS_ENST00000537166.1_Silent_p.A255A|THEMIS_ENST00000543064.1_Silent_p.A290A|THEMIS_ENST00000368250.1_Silent_p.A211A	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	290	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTCCTTCAGGTGCTTCTATGA	0.398																																						dbGAP											0													121.0	128.0	126.0					6																	128134916		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.870A>C	6.37:g.128134916T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	NULL	p.A290	ENST00000368248.2	37	c.870	CCDS34534.1	6																																																																																			THEMIS	-	NULL	ENSG00000172673		0.398	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		186	0.00	0	T	NM_001010923		128134916	128134916	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	silent	174	12.56	25	SNP	0.000	G
THEMIS2	9473	genome.wustl.edu	37	1	28209488	28209488	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:28209488A>C	ENST00000373921.3	+	4	1657	c.1653A>C	c.(1651-1653)ccA>ccC	p.P551P	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Silent_p.P422P|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	551					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGCCCCCCCACCCAGGCCCC	0.577																																						dbGAP											0													55.0	57.0	56.0					1																	28209488		1883	4097	5980	-	-	-	SO:0001819	synonymous_variant	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1653A>C	1.37:g.28209488A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.H299P	ENST00000373921.3	37	c.896	CCDS41290.1	1	.	.	.	.	.	.	.	.	.	.	A	9.599	1.128120	0.20959	.	.	ENSG00000130775	ENST00000456990	.	.	.	5.07	-9.61	0.00550	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51888	-0.8648	4	.	.	.	-18.8251	6.4194	0.21736	0.7011:0.1135:0.1078:0.0777	.	.	.	.	P	299	.	.	H	+	2	0	C1orf38	28082075	0.000000	0.05858	0.431000	0.26735	0.229000	0.25112	-2.643000	0.00862	-1.388000	0.02092	-0.345000	0.07892	CAC	THEMIS2	-	NULL	ENSG00000130775		0.577	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	56	0.00	0	A	NM_004848		28209488	28209488	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456990	ensembl	human	known	69_37n	missense	61	12.68	9	SNP	0.300	C
THRA	7067	genome.wustl.edu	37	17	38240887	38240887	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:38240887T>G	ENST00000264637.4	+	6	975	c.395T>G	c.(394-396)gTg>gGg	p.V132G	THRA_ENST00000546243.1_Missense_Mutation_p.V132G|THRA_ENST00000450525.2_Missense_Mutation_p.V132G|THRA_ENST00000584985.1_Missense_Mutation_p.V132G|THRA_ENST00000394121.4_Missense_Mutation_p.V132G	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	132					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCGAAGCGGGTGGCCAAGCGT	0.572																																						dbGAP											0													164.0	144.0	151.0					17																	38240887		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.395T>G	17.37:g.38240887T>G	ENSP00000264637:p.Val132Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.V132G	ENST00000264637.4	37	c.395	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679773	0.88542	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.93604	-3.09;-3.09;-3.25;-3.25	4.67	4.67	0.58626	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.73962	2.25	0.80722	D	1	P;P;D	0.54601	0.864;0.786;0.967	P;P;D	0.67231	0.736;0.549;0.95	D	0.95974	0.8972	10	0.54805	T	0.06	.	13.9496	0.64109	0.0:0.0:0.0:1.0	.	132;132;132	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	G	132	ENSP00000377679:V132G;ENSP00000264637:V132G;ENSP00000395641:V132G;ENSP00000443972:V132G	ENSP00000264637:V132G	V	+	2	0	THRA	35494413	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.832000	0.86757	1.955000	0.56771	0.358000	0.22013	GTG	THRA	-	prints_ThyrH_rcpt	ENSG00000126351		0.572	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	144	0.00	0	T			38240887	38240887	+1	no_errors	ENST00000264637	ensembl	human	known	69_37n	missense	208	13.33	32	SNP	1.000	G
THSD4	79875	genome.wustl.edu	37	15	71952880	71952880	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:71952880T>G	ENST00000355327.3	+	8	1298	c.1164T>G	c.(1162-1164)tgT>tgG	p.C388W	THSD4_ENST00000357769.4_Missense_Mutation_p.C28W|THSD4_ENST00000261862.6_Missense_Mutation_p.C388W|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	388					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCATTGGCTGTGATGACTACT	0.493																																						dbGAP											0													176.0	175.0	176.0					15																	71952880		1958	4167	6125	-	-	-	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1164T>G	15.37:g.71952880T>G	ENSP00000347484:p.Cys388Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.C388W	ENST00000355327.3	37	c.1164	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097505	0.56075	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;D	0.86366	-0.71;-0.71;-2.11	4.77	2.45	0.29901	.	0.261160	0.37348	N	0.002122	D	0.94358	0.8186	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.996;0.99;0.998;0.99	D	0.92962	0.6390	10	0.87932	D	0	.	7.202	0.25887	0.0:0.1885:0.0:0.8115	.	28;28;388;388	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	W	388;388;28;28	ENSP00000347484:C388W;ENSP00000261862:C388W;ENSP00000350413:C28W	ENSP00000261862:C388W	C	+	3	2	THSD4	69739934	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.326000	0.33735	0.789000	0.33779	0.533000	0.62120	TGT	THSD4	-	NULL	ENSG00000187720		0.493	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	229	0.87	2	T	NM_024817		71952880	71952880	+1	no_errors	ENST00000261862	ensembl	human	known	69_37n	missense	224	13.51	35	SNP	1.000	G
THYN1	29087	genome.wustl.edu	37	11	134121159	134121159	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:134121159A>C	ENST00000341541.3	-	2	548	c.87T>G	c.(85-87)ggT>ggG	p.G29G	ACAD8_ENST00000374752.4_5'Flank|THYN1_ENST00000392594.3_Silent_p.G29G|THYN1_ENST00000525677.1_5'UTR|ACAD8_ENST00000543332.1_5'Flank|THYN1_ENST00000352327.5_Silent_p.G29G|ACAD8_ENST00000281182.4_5'Flank|ACAD8_ENST00000537423.1_5'Flank|THYN1_ENST00000392595.2_Silent_p.G29G	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	29				G -> V (in Ref. 5; AAH93074). {ECO:0000305}.		nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CTAATGCCTCACCTGAGTTCT	0.428																																						dbGAP											0													310.0	315.0	313.0					11																	134121159		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.87T>G	11.37:g.134121159A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q567Q2|Q9H3L4|Q9HC20	Silent	SNP	pfam_EVE_domain,superfamily_PUA-like_domain	p.G29	ENST00000341541.3	37	c.87	CCDS8496.1	11																																																																																			THYN1	-	NULL	ENSG00000151500		0.428	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	385	0.00	0	A	NM_014174		134121159	134121159	-1	no_errors	ENST00000341541	ensembl	human	known	69_37n	silent	207	10.78	25	SNP	0.000	C
TIA1	7072	genome.wustl.edu	37	2	70444097	70444097	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:70444097A>C	ENST00000433529.2	-	8	714	c.504T>G	c.(502-504)ggT>ggG	p.G168G	TIA1_ENST00000415783.2_Silent_p.G157G|TIA1_ENST00000282574.4_Silent_p.G168G|TIA1_ENST00000482876.1_5'UTR|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Silent_p.G168G|TIA1_ENST00000445587.1_Silent_p.G157G	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	168	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.G168G(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GCCACTGGCCACCCATCTGTT	0.428																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											176.0	176.0	176.0					2																	70444097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.504T>G	2.37:g.70444097A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SS9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G168	ENST00000433529.2	37	c.504	CCDS1901.1	2																																																																																			TIA1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116001		0.428	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	149	0.67	1	A	NM_022037		70444097	70444097	-1	no_errors	ENST00000433529	ensembl	human	known	69_37n	silent	99	18.18	22	SNP	0.999	C
TIAL1	7073	genome.wustl.edu	37	10	121336184	121336184	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:121336184A>C	ENST00000436547.2	-	11	984	c.940T>G	c.(940-942)Tgg>Ggg	p.W314G	TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369092.4_Missense_Mutation_p.W191G|TIAL1_ENST00000369093.2_Missense_Mutation_p.W331G	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	314					apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGTACTTGCCACCCATTTGCC	0.428																																						dbGAP											0													197.0	174.0	182.0					10																	121336184		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.940T>G	10.37:g.121336184A>C	ENSP00000394902:p.Trp314Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3T0|A8K4L9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.W331G	ENST00000436547.2	37	c.991	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879424	0.72294	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.24908	2.92;1.83;3.1	5.5	5.5	0.81552	.	0.114186	0.64402	D	0.000005	T	0.46347	0.1388	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.995;0.998;0.998	T	0.25950	-1.0117	10	0.24483	T	0.36	-10.5087	15.5874	0.76495	1.0:0.0:0.0:0.0	.	191;331;314	Q49AS9;A8K4L9;Q01085	.;.;TIAR_HUMAN	G	331;191;314	ENSP00000358089:W331G;ENSP00000358088:W191G;ENSP00000394902:W314G	ENSP00000358088:W191G	W	-	1	0	TIAL1	121326174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.073000	0.62155	0.482000	0.46254	TGG	TIAL1	-	NULL	ENSG00000151923		0.428	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	223	0.00	0	A	NM_022333, NM_003252		121336184	121336184	-1	no_errors	ENST00000369093	ensembl	human	known	69_37n	missense	143	13.25	22	SNP	1.000	C
TIAM1	7074	genome.wustl.edu	37	21	32639149	32639149	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:32639149A>C	ENST00000286827.3	-	5	611	c.140T>G	c.(139-141)gTg>gGg	p.V47G	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.V47G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	47					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGTGGATCACCTTCCCCGA	0.627																																						dbGAP											0													46.0	48.0	47.0					21																	32639149		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.140T>G	21.37:g.32639149A>C	ENSP00000286827:p.Val47Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.V47G	ENST00000286827.3	37	c.140	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391931	0.42410	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.40476	1.03;1.03	5.15	-4.81	0.03180	.	0.581811	0.18480	N	0.139960	T	0.28499	0.0705	L	0.29908	0.895	0.37217	D	0.905059	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.18561	0.022;0.01;0.01	T	0.02004	-1.1231	10	0.87932	D	0	.	14.0025	0.64442	0.4367:0.0:0.5633:0.0	.	47;47;47	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	G	47	ENSP00000286827:V47G;ENSP00000441570:V47G	ENSP00000286827:V47G	V	-	2	0	TIAM1	31561020	0.100000	0.21855	0.795000	0.32087	0.979000	0.70002	0.803000	0.27083	-1.322000	0.02278	-0.627000	0.03993	GTG	TIAM1	-	NULL	ENSG00000156299		0.627	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	47	0.00	0	A	NM_003253		32639149	32639149	-1	no_errors	ENST00000286827	ensembl	human	known	69_37n	missense	55	17.65	12	SNP	0.875	C
TICRR	90381	genome.wustl.edu	37	15	90167669	90167669	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:90167669A>C	ENST00000268138.7	+	20	4233	c.4128A>C	c.(4126-4128)ccA>ccC	p.P1376P	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.P1375P			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1376	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCCTCCTCCACCCCCTTCTA	0.572																																						dbGAP											0													133.0	132.0	132.0					15																	90167669		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4128A>C	15.37:g.90167669A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.P1376	ENST00000268138.7	37	c.4128	CCDS10352.2	15																																																																																			TICRR	-	NULL	ENSG00000140534		0.572	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	198	0.50	1	A	NM_152259		90167669	90167669	+1	no_errors	ENST00000268138	ensembl	human	known	69_37n	silent	167	17.65	36	SNP	0.000	C
TIE1	7075	genome.wustl.edu	37	1	43783526	43783526	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:43783526A>C	ENST00000372476.3	+	17	2810				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCTAAATCACCACTGTCTG	0.532																																						dbGAP											0													284.0	299.0	294.0					1																	43783526		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2732-27A>C	1.37:g.43783526A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-	ENSG00000066056		0.532	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	217	0.46	1	A	NM_005424		43783526	43783526	+1	no_errors	ENST00000473014	ensembl	human	known	69_37n	rna	155	14.84	27	SNP	0.000	C
TIGD7	91151	genome.wustl.edu	37	16	3350381	3350381	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:3350381A>C	ENST00000396862.1	-	2	2062	c.234T>G	c.(232-234)ggT>ggG	p.G78G	TIGD7_ENST00000268674.2_Silent_p.G78G|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	78	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CATCTACATCACCATATTTGG	0.468																																						dbGAP											0													164.0	159.0	161.0					16																	3350381		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.234T>G	16.37:g.3350381A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXZ0	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G78	ENST00000396862.1	37	c.234	CCDS10500.1	16																																																																																			TIGD7	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000140993		0.468	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	116	0.85	1	A	NM_033208		3350381	3350381	-1	no_errors	ENST00000268674	ensembl	human	known	69_37n	silent	103	17.60	22	SNP	0.859	C
TJP2	9414	genome.wustl.edu	37	9	71866089	71866089	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:71866089A>C	ENST00000377245.4	+	21	3338	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	TJP2_ENST00000535702.1_Missense_Mutation_p.T1011P|TJP2_ENST00000539225.1_Missense_Mutation_p.T1075P|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000453658.2_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1044					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGCAAAACCTACCTTTGGGCG	0.507																																						dbGAP											0													96.0	92.0	93.0					9																	71866089		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3130A>C	9.37:g.71866089A>C	ENSP00000366453:p.Thr1044Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.T1075P	ENST00000377245.4	37	c.3223	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165197	0.38217	.	.	ENSG00000119139	ENST00000377245;ENST00000535702;ENST00000539225	T;T;T	0.09255	3.02;3.0;3.07	6.17	-4.43	0.03568	.	1.519390	0.03423	N	0.206638	T	0.07908	0.0198	N	0.22421	0.69	0.20074	N	0.999934	B;P;B	0.35208	0.256;0.49;0.215	B;B;B	0.37422	0.099;0.249;0.126	T	0.26258	-1.0108	10	0.28530	T	0.3	.	7.0872	0.25264	0.2079:0.0:0.3382:0.4539	.	1075;1011;1044	F5H301;F5H886;Q9UDY2	.;.;ZO2_HUMAN	P	1044;1011;1075	ENSP00000366453:T1044P;ENSP00000442090:T1011P;ENSP00000438262:T1075P	ENSP00000366453:T1044P	T	+	1	0	TJP2	71055909	0.000000	0.05858	0.003000	0.11579	0.970000	0.65996	-0.785000	0.04628	-1.111000	0.02988	-0.132000	0.14878	ACC	TJP2	-	prints_ZonOcculS2	ENSG00000119139		0.507	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	271	0.73	2	A	NM_201629		71866089	71866089	+1	no_errors	ENST00000539225	ensembl	human	known	69_37n	missense	184	13.55	29	SNP	0.260	C
TLE4	7091	genome.wustl.edu	37	9	82320815	82320815	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:82320815T>G	ENST00000376552.2	+	10	1759	c.741T>G	c.(739-741)ggT>ggG	p.G247G	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376520.4_Silent_p.G247G|TLE4_ENST00000376537.4_Silent_p.G247G|TLE4_ENST00000265284.6_Silent_p.G222G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	247	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAGCGATGGTGAGAAAAGTG	0.408																																						dbGAP											0													329.0	323.0	325.0					9																	82320815		1968	4171	6139	-	-	-	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.741T>G	9.37:g.82320815T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonstop_Mutation	SNP	superfamily_WD40_repeat_dom	p.*38G	ENST00000376552.2	37	c.112	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	T	9.807	1.182208	0.21787	.	.	ENSG00000106829	ENST00000496114	.	.	.	5.97	-7.4	0.01397	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0904	0.2849	0.00250	0.2801:0.1721:0.1756:0.3722	.	.	.	.	G	38	.	.	X	+	1	0	TLE4	81510635	0.831000	0.29352	0.891000	0.34965	0.880000	0.50808	-0.164000	0.09983	-0.743000	0.04784	-0.438000	0.05819	TGA	TLE4	-	NULL	ENSG00000106829		0.408	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	354	0.00	0	T	XM_212237		82320815	82320815	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000496114	ensembl	human	novel	69_37n	nonstop	264	10.81	32	SNP	0.604	G
TLE1	7088	genome.wustl.edu	37	9	84235381	84235381	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:84235381A>C	ENST00000376499.3	-	9	1750	c.686T>G	c.(685-687)gTg>gGg	p.V229G	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	229	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTTATCATCCACCTTCCTTTT	0.398																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	dbGAP											0													181.0	157.0	165.0					9																	84235381		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.686T>G	9.37:g.84235381A>C	ENSP00000365682:p.Val229Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.V229G	ENST00000376499.3	37	c.686	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427706	0.43122	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319	T;T	0.42513	0.97;1.38	5.91	5.91	0.95273	.	0.063358	0.64402	D	0.000005	T	0.57548	0.2061	L	0.50333	1.59	0.80722	D	1	P;B;B;D;B	0.54601	0.932;0.009;0.097;0.967;0.015	P;B;B;D;B	0.64595	0.773;0.028;0.044;0.927;0.028	T	0.53337	-0.8453	10	0.36615	T	0.2	-18.1145	16.3513	0.83213	1.0:0.0:0.0:0.0	.	155;229;256;239;229	B4E345;B4DEF9;Q59EF7;Q5T3G3;Q04724	.;.;.;.;TLE1_HUMAN	G	229;239;239	ENSP00000365682:V229G;ENSP00000391347:V239G	ENSP00000347102:V239G	V	-	2	0	TLE1	83425201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.252000	0.74401	0.533000	0.62120	GTG	TLE1	-	NULL	ENSG00000196781		0.398	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	145	0.00	0	A	NM_005077		84235381	84235381	-1	no_errors	ENST00000376499	ensembl	human	known	69_37n	missense	111	14.39	19	SNP	1.000	C
TLN2	83660	genome.wustl.edu	37	15	63054582	63054582	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:63054582A>C	ENST00000561311.1	+	38	5121	c.4891A>C	c.(4891-4893)Acc>Ccc	p.T1631P	TLN2_ENST00000306829.6_Missense_Mutation_p.T1631P|TLN2_ENST00000472902.1_Missense_Mutation_p.T24P			Q9Y4G6	TLN2_HUMAN	talin 2	1631					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGACCCACCCACCTGGTCTGT	0.542																																						dbGAP											0													227.0	198.0	208.0					15																	63054582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4891A>C	15.37:g.63054582A>C	ENSP00000453508:p.Thr1631Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.T1631P	ENST00000561311.1	37	c.4891	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802508	0.70682	.	.	ENSG00000171914	ENST00000306829	T	0.14516	2.5	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.24084	0.0583	M	0.67397	2.05	0.58432	D	0.999995	P;P	0.49090	0.823;0.919	P;P	0.52109	0.69;0.616	T	0.01363	-1.1374	10	0.32370	T	0.25	-30.5585	10.3221	0.43773	0.9233:0.0:0.0767:0.0	.	675;1631	G1UI21;Q9Y4G6	.;TLN2_HUMAN	P	1631	ENSP00000303476:T1631P	ENSP00000303476:T1631P	T	+	1	0	TLN2	60841874	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	5.144000	0.64832	1.966000	0.57179	0.533000	0.62120	ACC	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	415	0.95	4	A			63054582	63054582	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	354	10.83	43	SNP	1.000	C
TLR8	51311	genome.wustl.edu	37	X	12939336	12939336	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:12939336A>C	ENST00000218032.6	+	2	2264	c.2177A>C	c.(2176-2178)cAc>cCc	p.H726P	TLR8_ENST00000311912.5_Missense_Mutation_p.H744P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	726					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGGATTTCCCACCTACCCTCT	0.413																																						dbGAP											0													140.0	133.0	135.0					X																	12939336		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2177A>C	X.37:g.12939336A>C	ENSP00000218032:p.His726Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H726P	ENST00000218032.6	37	c.2177	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943602	0.18281	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.57595	0.39;0.39	5.82	5.82	0.92795	.	0.353057	0.20550	N	0.090139	T	0.56277	0.1974	L	0.49350	1.555	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.58172	0.773;0.834	T	0.56932	-0.7897	10	0.48119	T	0.1	.	3.7035	0.08391	0.6585:0.0:0.1628:0.1786	.	726;744	Q9NR97;D1CS70	TLR8_HUMAN;.	P	726;744	ENSP00000218032:H726P;ENSP00000312082:H744P	ENSP00000218032:H726P	H	+	2	0	TLR8	12849257	0.000000	0.05858	0.950000	0.38849	0.016000	0.09150	1.338000	0.33873	1.970000	0.57323	0.486000	0.48141	CAC	TLR8	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000101916		0.413	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	245	0.00	0	A	NM_016610		12939336	12939336	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	226	12.40	32	SNP	0.104	C
TLR8	51311	genome.wustl.edu	37	X	12939870	12939870	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:12939870A>C	ENST00000218032.6	+	2	2798	c.2711A>C	c.(2710-2712)cAc>cCc	p.H904P	TLR8_ENST00000311912.5_Missense_Mutation_p.H922P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	904	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTGCGCTACCACCTTGAAGAG	0.468																																						dbGAP											0													119.0	116.0	117.0					X																	12939870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2711A>C	X.37:g.12939870A>C	ENSP00000218032:p.His904Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H904P	ENST00000218032.6	37	c.2711	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019151	0.35606	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.08008	3.14;3.14	5.97	4.77	0.60923	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.177369	0.27306	N	0.019966	T	0.07052	0.0179	L	0.31926	0.97	0.44162	D	0.996965	B;B	0.31611	0.331;0.331	B;B	0.31191	0.125;0.125	T	0.31779	-0.9931	10	0.49607	T	0.09	.	7.5161	0.27602	0.7993:0.0:0.0714:0.1293	.	904;922	Q9NR97;D1CS70	TLR8_HUMAN;.	P	904;922	ENSP00000218032:H904P;ENSP00000312082:H922P	ENSP00000218032:H904P	H	+	2	0	TLR8	12849791	0.992000	0.36948	1.000000	0.80357	0.947000	0.59692	7.391000	0.79828	0.819000	0.34492	0.486000	0.48141	CAC	TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000101916		0.468	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	202	0.00	0	A	NM_016610		12939870	12939870	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	198	11.61	26	SNP	1.000	C
TM9SF1	10548	genome.wustl.edu	37	14	24663986	24663986	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:24663986A>C	ENST00000261789.4	-	2	598	c.240T>G	c.(238-240)ggT>ggG	p.G80G	TM9SF1_ENST00000556387.1_Silent_p.G289G|TM9SF1_ENST00000530611.1_Silent_p.G289G|TM9SF1_ENST00000396854.4_Silent_p.G80G|TM9SF1_ENST00000528669.1_Silent_p.G80G|TM9SF1_ENST00000524835.1_5'UTR	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	80					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCAGCACTTCACCCAGGCTAA	0.502																																						dbGAP											0													380.0	379.0	379.0					14																	24663986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.240T>G	14.37:g.24663986A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS65|Q86SZ6|Q96FI8	Silent	SNP	pfam_EMP70,pfam_Snf7	p.G289	ENST00000261789.4	37	c.867	CCDS9617.1	14																																																																																			TM9SF1	-	pfam_EMP70	ENSG00000100926		0.502	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	455	0.44	2	A	NM_006405		24663986	24663986	-1	no_errors	ENST00000556387	ensembl	human	known	69_37n	silent	362	10.98	45	SNP	0.902	C
TM9SF3	56889	genome.wustl.edu	37	10	98311131	98311131	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:98311131A>C	ENST00000371142.4	-	7	1046	c.830T>G	c.(829-831)gTg>gGg	p.V277G	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	277						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATCTCCATGCACCTGTTTCCA	0.348																																						dbGAP											0													173.0	163.0	166.0					10																	98311131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.830T>G	10.37:g.98311131A>C	ENSP00000360184:p.Val277Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	pfam_EMP70	p.V277G	ENST00000371142.4	37	c.830	CCDS7450.1	10	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507505	0.85282	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.54866	0.55;0.55	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	H	0.96720	3.87	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74674	0.984;0.979	D	0.87448	0.2399	10	0.87932	D	0	-12.2066	14.1265	0.65225	1.0:0.0:0.0:0.0	.	209;277	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	G	277;233	ENSP00000360184:V277G;ENSP00000401152:V233G	ENSP00000360184:V277G	V	-	2	0	TM9SF3	98301121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.069000	0.93967	1.950000	0.56595	0.528000	0.53228	GTG	TM9SF3	-	pfam_EMP70	ENSG00000077147		0.348	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF3	HGNC	protein_coding	OTTHUMT00000049610.2	388	0.00	0	A	NM_020123		98311131	98311131	-1	no_errors	ENST00000371142	ensembl	human	known	69_37n	missense	280	20.95	75	SNP	1.000	C
TMC1	117531	genome.wustl.edu	37	9	75435971	75435971	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:75435971A>C	ENST00000297784.5	+	20	2517	c.1977A>C	c.(1975-1977)ccA>ccC	p.P659P	TMC1_ENST00000396237.3_Silent_p.P659P|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.P659P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	659					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTCCCTCCCACCATCTTTTG	0.463																																					Pancreas(75;173 1345 14232 34245 43413)	dbGAP											0													265.0	232.0	243.0					9																	75435971		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1977A>C	9.37:g.75435971A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVZ2|B1AM91	Silent	SNP	pfam_TMC	p.P659	ENST00000297784.5	37	c.1977	CCDS6643.1	9																																																																																			TMC1	-	NULL	ENSG00000165091		0.463	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	206	0.00	0	A			75435971	75435971	+1	no_errors	ENST00000297784	ensembl	human	known	69_37n	silent	176	14.90	31	SNP	0.102	C
TMC7	79905	genome.wustl.edu	37	16	19058514	19058514	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:19058514A>C	ENST00000304381.5	+	12	1813	c.1683A>C	c.(1681-1683)tcA>tcC	p.S561S	TMC7_ENST00000569532.1_Silent_p.S561S|TMC7_ENST00000421369.3_Silent_p.S451S	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	561					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTTTTTCTCACCCCTTCTCC	0.502																																						dbGAP											0													286.0	296.0	293.0					16																	19058514		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1683A>C	16.37:g.19058514A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	pfam_TMC	p.S561	ENST00000304381.5	37	c.1683	CCDS10573.1	16																																																																																			TMC7	-	pfam_TMC	ENSG00000170537		0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	330	0.60	2	A	NM_024847		19058514	19058514	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	silent	276	20.17	70	SNP	0.027	C
TMCC1	23023	genome.wustl.edu	37	3	129389677	129389677	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:129389677A>C	ENST00000393238.3	-	4	1347	c.1007T>G	c.(1006-1008)gTg>gGg	p.V336G	TMCC1_ENST00000426664.2_Missense_Mutation_p.V222G|TMCC1_ENST00000432054.2_Missense_Mutation_p.V12G|TMCC1_ENST00000329333.5_Missense_Mutation_p.V157G	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	336						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GAAGCCAGTCACCTTTGCTCC	0.557																																						dbGAP											0													123.0	116.0	119.0					3																	129389677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1007T>G	3.37:g.129389677A>C	ENSP00000376930:p.Val336Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.V336G	ENST00000393238.3	37	c.1007	CCDS33855.1	3	.	.	.	.	.	.	.	.	.	.	A	18.37	3.610067	0.66558	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.54279	0.58;1.31;1.34;0.77	5.56	5.56	0.83823	.	0.056071	0.64402	N	0.000001	T	0.63616	0.2526	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.961;0.998	P;D	0.65874	0.906;0.939	T	0.58387	-0.7645	10	0.22706	T	0.39	-12.4148	15.999	0.80275	1.0:0.0:0.0:0.0	.	157;336	B4DE04;O94876	.;TMCC1_HUMAN	G	12;336;222;157	ENSP00000404711:V12G;ENSP00000376930:V336G;ENSP00000389892:V222G;ENSP00000327349:V157G	ENSP00000327349:V157G	V	-	2	0	TMCC1	130872367	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.106000	0.94253	2.241000	0.73720	0.482000	0.46254	GTG	TMCC1	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000172765		0.557	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	122	0.00	0	A	NM_015008		129389677	129389677	-1	no_errors	ENST00000393238	ensembl	human	known	69_37n	missense	121	14.18	20	SNP	1.000	C
TMED8	283578	genome.wustl.edu	37	14	77809778	77809778	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:77809778A>C	ENST00000216468.7	-	5	558	c.503T>G	c.(502-504)gTg>gGg	p.V168G		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	168	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAATTCCTTCACCTTGGCAAA	0.532																																						dbGAP											0													67.0	46.0	53.0					14																	77809778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.503T>G	14.37:g.77809778A>C	ENSP00000216468:p.Val168Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	superfamily_GOLD,pfscan_GOLD	p.V168G	ENST00000216468.7	37	c.503	CCDS32125.1	14	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498949	0.85069	.	.	ENSG00000100580	ENST00000216468	T	0.26957	1.7	5.98	5.98	0.97165	GOLD (1);	0.263685	0.46442	N	0.000295	T	0.24005	0.0581	L	0.52573	1.65	0.80722	D	1	P	0.43169	0.8	B	0.32289	0.143	T	0.05500	-1.0881	10	0.87932	D	0	0.4278	16.4496	0.83976	1.0:0.0:0.0:0.0	.	168	Q6PL24	TMED8_HUMAN	G	168	ENSP00000216468:V168G	ENSP00000216468:V168G	V	-	2	0	TMED8	76879531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.806000	0.62569	2.284000	0.76573	0.533000	0.62120	GTG	TMED8	-	pfscan_GOLD	ENSG00000100580		0.532	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	149	0.00	0	A	NM_213601		77809778	77809778	-1	no_errors	ENST00000216468	ensembl	human	known	69_37n	missense	138	15.24	25	SNP	1.000	C
TMEM106A	113277	genome.wustl.edu	37	17	41368538	41368538	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:41368538A>C	ENST00000331615.3	+	6	737	c.500A>C	c.(499-501)cAc>cCc	p.H167P	TMEM106A_ENST00000588659.1_Missense_Mutation_p.H167P|LINC00854_ENST00000593624.1_RNA|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000541594.1_Missense_Mutation_p.H119P|TMEM106A_ENST00000536052.1_Intron|LINC00854_ENST00000595400.1_RNA	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	167						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GAGGTTCTGCACCTGTCCCTC	0.552																																						dbGAP											0													221.0	210.0	214.0					17																	41368538		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.500A>C	17.37:g.41368538A>C	ENSP00000330774:p.His167Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2X2|B7Z698	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.H167P	ENST00000331615.3	37	c.500	CCDS11462.1	17	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186591	0.57909	.	.	ENSG00000184988	ENST00000331615;ENST00000541594	T;T	0.23147	1.92;1.92	5.52	5.52	0.82312	.	0.253920	0.39834	N	0.001243	T	0.48960	0.1529	M	0.68317	2.08	0.42674	D	0.993521	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	T	0.50866	-0.8777	10	0.66056	D	0.02	-9.4444	13.4603	0.61223	1.0:0.0:0.0:0.0	.	119;167	B7Z698;Q96A25	.;T106A_HUMAN	P	167;119	ENSP00000330774:H167P;ENSP00000439844:H119P	ENSP00000330774:H167P	H	+	2	0	TMEM106A	38724064	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	5.575000	0.67430	2.225000	0.72522	0.533000	0.62120	CAC	TMEM106A	-	pfam_DUF1356_TMEM106	ENSG00000184988		0.552	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106A	HGNC	protein_coding	OTTHUMT00000453470.2	334	0.89	3	A	NM_145041		41368538	41368538	+1	no_errors	ENST00000331615	ensembl	human	known	69_37n	missense	282	13.98	46	SNP	1.000	C
TMEM108	66000	genome.wustl.edu	37	3	133098934	133098934	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:133098934T>C	ENST00000321871.6	+	4	589	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	TMEM108_ENST00000515826.1_Missense_Mutation_p.S127P|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.S127P	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	127	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AACCACATCCTCCAAGCCAGA	0.687																																						dbGAP											0													38.0	37.0	37.0					3																	133098934		2195	4284	6479	-	-	-	SO:0001583	missense	0			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.379T>C	3.37:g.133098934T>C	ENSP00000324651:p.Ser127Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.S127P	ENST00000321871.6	37	c.379	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	T	9.611	1.131239	0.21041	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	3.32	-1.93	0.07594	.	0.465701	0.16128	N	0.228338	T	0.62612	0.2442	L	0.57536	1.79	0.09310	N	1	D;B	0.76494	0.999;0.002	D;B	0.83275	0.996;0.004	T	0.52381	-0.8583	10	0.38643	T	0.18	-6.4937	3.8229	0.08843	0.0:0.3567:0.2056:0.4376	.	127;127	E9PB58;Q6UXF1	.;TM108_HUMAN	P	127;127;78;78;127;127;127	ENSP00000324651:S127P;ENSP00000376838:S127P;ENSP00000422072:S78P;ENSP00000427447:S78P;ENSP00000426301:S127P;ENSP00000423338:S127P;ENSP00000421486:S127P	ENSP00000324651:S127P	S	+	1	0	TMEM108	134581624	0.005000	0.15991	0.016000	0.15963	0.127000	0.20565	0.129000	0.15830	-0.383000	0.07858	0.379000	0.24179	TCC	TMEM108	-	NULL	ENSG00000144868		0.687	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	95	0.00	0	T	NM_023943		133098934	133098934	+1	no_errors	ENST00000321871	ensembl	human	known	69_37n	missense	57	18.57	13	SNP	0.022	C
TMEM132B	114795	genome.wustl.edu	37	12	125834837	125834837	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:125834837A>C	ENST00000299308.3	+	2	900	c.892A>C	c.(892-894)Acc>Ccc	p.T298P		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	298						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGACACGGCCACCTTTTTGGT	0.522																																						dbGAP											0													188.0	179.0	182.0					12																	125834837		1958	4130	6088	-	-	-	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.892A>C	12.37:g.125834837A>C	ENSP00000299308:p.Thr298Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.T298P	ENST00000299308.3	37	c.892	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071276	0.76301	.	.	ENSG00000139364	ENST00000299308	T	0.12672	2.66	5.34	5.34	0.76211	.	.	.	.	.	T	0.31327	0.0793	M	0.69523	2.12	0.80722	D	1	D	0.59767	0.986	P	0.56563	0.801	T	0.03483	-1.1032	9	0.52906	T	0.07	.	15.3357	0.74250	1.0:0.0:0.0:0.0	.	298	Q14DG7	T132B_HUMAN	P	298	ENSP00000299308:T298P	ENSP00000299308:T298P	T	+	1	0	TMEM132B	124400790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.367000	0.59498	2.014000	0.59158	0.533000	0.62120	ACC	TMEM132B	-	NULL	ENSG00000139364		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	226	0.44	1	A	NM_052907		125834837	125834837	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	missense	198	14.29	33	SNP	1.000	C
TMEM168	64418	genome.wustl.edu	37	7	112407761	112407761	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:112407761A>C	ENST00000312814.6	-	5	2145	c.1585T>G	c.(1585-1587)Tgg>Ggg	p.W529G	TMEM168_ENST00000454074.1_Missense_Mutation_p.W529G	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	529						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TTTTCTCTCCACCATTCTATA	0.398																																						dbGAP											0													56.0	56.0	56.0					7																	112407761		2202	4296	6498	-	-	-	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1585T>G	7.37:g.112407761A>C	ENSP00000323068:p.Trp529Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl	p.W529G	ENST00000312814.6	37	c.1585	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766428	0.69878	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79657	-0.1712	9	0.87932	D	0	-13.0453	16.1506	0.81618	1.0:0.0:0.0:0.0	.	529	Q9H0V1	TM168_HUMAN	G	529;529;145;90	.	ENSP00000323068:W529G	W	-	1	0	TMEM168	112194997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.282000	0.95840	2.206000	0.71126	0.528000	0.53228	TGG	TMEM168	-	NULL	ENSG00000146802		0.398	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	184	0.00	0	A	NM_022484		112407761	112407761	-1	no_errors	ENST00000312814	ensembl	human	known	69_37n	missense	127	14.67	22	SNP	1.000	C
TMEM139	135932	genome.wustl.edu	37	7	142983954	142983954	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142983954A>C	ENST00000359333.3	+	0	1196				AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_3'UTR|TMEM139_ENST00000410004.1_3'UTR|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409102.1_3'UTR|CASP2_ENST00000392925.2_5'Flank|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409541.1_3'UTR|TMEM139_ENST00000471161.1_3'UTR	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139							integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TTCTCTCCACACCAGACCtcg	0.453																																						dbGAP											0													90.0	90.0	90.0					7																	142983954		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.*32A>C	7.37:g.142983954A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	RNA	SNP	-	NULL	ENST00000359333.3	37	NULL	CCDS5878.1	7																																																																																			TMEM139	-	-	ENSG00000178826		0.453	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM139	HGNC	protein_coding	OTTHUMT00000327145.1	119	0.00	0	A	NM_153345		142983954	142983954	+1	no_errors	ENST00000471161	ensembl	human	known	69_37n	rna	73	20.65	19	SNP	0.001	C
TMEM177	80775	genome.wustl.edu	37	2	120438632	120438632	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:120438632T>G	ENST00000424086.1	+	2	676	c.203T>G	c.(202-204)gTg>gGg	p.V68G	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V68G|TMEM177_ENST00000409951.1_Missense_Mutation_p.V68G|TMEM177_ENST00000401466.1_Missense_Mutation_p.V68G	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	68						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TTCCAAGAGGTGCTACAGGAC	0.597																																						dbGAP											0													154.0	152.0	153.0					2																	120438632		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.203T>G	2.37:g.120438632T>G	ENSP00000402661:p.Val68Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BT20	Missense_Mutation	SNP	NULL	p.V68G	ENST00000424086.1	37	c.203	CCDS2128.1	2	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795637	0.70452	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.51553	-0.8691	10	0.72032	D	0.01	-22.6173	12.0514	0.53509	0.0:0.0:0.0:1.0	.	68;68	B8ZZT5;Q53S58	.;TM177_HUMAN	G	68	ENSP00000385966:V68G;ENSP00000402661:V68G;ENSP00000272521:V68G;ENSP00000405898:V68G;ENSP00000386430:V68G	ENSP00000272521:V68G	V	+	2	0	TMEM177	120155102	1.000000	0.71417	0.992000	0.48379	0.866000	0.49608	7.149000	0.77396	2.029000	0.59856	0.448000	0.29417	GTG	TMEM177	-	NULL	ENSG00000144120		0.597	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM177	HGNC	protein_coding	OTTHUMT00000330673.1	252	0.39	1	T	NM_030577		120438632	120438632	+1	no_errors	ENST00000272521	ensembl	human	known	69_37n	missense	199	13.48	31	SNP	0.998	G
TMEM184C	55751	genome.wustl.edu	37	4	148555441	148555441	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:148555441A>C	ENST00000296582.3	+	10	1747	c.1173A>C	c.(1171-1173)ccA>ccC	p.P391P	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	391						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTTCTATGCCACCTTCACCCA	0.408																																						dbGAP											0													110.0	100.0	103.0					4																	148555441		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1173A>C	4.37:g.148555441A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	pfam_Ost-alpha	p.P391	ENST00000296582.3	37	c.1173	CCDS3770.1	4																																																																																			TMEM184C	-	NULL	ENSG00000164168		0.408	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	258	0.39	1	A	NM_018241		148555441	148555441	+1	no_errors	ENST00000296582	ensembl	human	known	69_37n	silent	222	10.84	27	SNP	0.922	C
TMEM217	221468	genome.wustl.edu	37	6	37186584	37186584	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:37186584T>G	ENST00000336655.2	-	2	262	c.223A>C	c.(223-225)Acc>Ccc	p.T75P	TMEM217_ENST00000356757.2_Missense_Mutation_p.T75P|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	75						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ATGAGGATGGTGATGAAAGAC	0.428																																						dbGAP											0													213.0	214.0	213.0					6																	37186584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.223A>C	6.37:g.37186584T>G	ENSP00000338164:p.Thr75Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC54	Missense_Mutation	SNP	NULL	p.T75P	ENST00000336655.2	37	c.223	CCDS4831.1	6	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724498	0.68959	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	T	0.62527	0.2435	L	0.54323	1.7	0.39020	D	0.95972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68138	-0.5488	8	0.87932	D	0	-57.5104	10.9138	0.47124	0.0:0.0:0.0:1.0	.	75;75	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	P	75	.	ENSP00000338164:T75P	T	-	1	0	TMEM217	37294562	1.000000	0.71417	0.753000	0.31225	0.057000	0.15508	3.494000	0.53273	2.143000	0.66587	0.496000	0.49642	ACC	TMEM217	-	NULL	ENSG00000172738		0.428	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	HGNC	protein_coding	OTTHUMT00000357542.1	394	0.00	0	T	NM_145316		37186584	37186584	-1	no_errors	ENST00000336655	ensembl	human	known	69_37n	missense	307	14.84	54	SNP	0.944	G
TMEM217	221468	genome.wustl.edu	37	6	37186654	37186654	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:37186654A>C	ENST00000336655.2	-	2	192	c.153T>G	c.(151-153)ggT>ggG	p.G51G	TMEM217_ENST00000356757.2_Silent_p.G51G|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	51						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TGTTACTTGCACCCCTGTACT	0.453																																						dbGAP											0													298.0	271.0	280.0					6																	37186654		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.153T>G	6.37:g.37186654A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC54	Silent	SNP	NULL	p.G51	ENST00000336655.2	37	c.153	CCDS4831.1	6																																																																																			TMEM217	-	NULL	ENSG00000172738		0.453	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	HGNC	protein_coding	OTTHUMT00000357542.1	424	0.93	4	A	NM_145316		37186654	37186654	-1	no_errors	ENST00000336655	ensembl	human	known	69_37n	silent	389	13.75	62	SNP	0.000	C
TMEM200A	114801	genome.wustl.edu	37	6	130762567	130762567	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:130762567A>C	ENST00000296978.3	+	3	1871	c.1000A>C	c.(1000-1002)Acc>Ccc	p.T334P	TMEM200A_ENST00000392429.1_Missense_Mutation_p.T334P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.T334P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	334						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTGCCCAACACCAGTGAATC	0.473																																						dbGAP											0													98.0	90.0	93.0					6																	130762567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1000A>C	6.37:g.130762567A>C	ENSP00000296978:p.Thr334Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.T334P	ENST00000296978.3	37	c.1000	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	A	3.327	-0.137484	0.06711	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	-2.51	0.06365	.	0.598907	0.17921	N	0.157493	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28554	-1.0040	9	0.45353	T	0.12	.	2.7802	0.05359	0.4445:0.1118:0.3301:0.1135	.	334	Q86VY9	T200A_HUMAN	P	334	.	ENSP00000296978:T334P	T	+	1	0	TMEM200A	130804260	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.598000	0.24074	-0.682000	0.05197	0.533000	0.62120	ACC	TMEM200A	-	NULL	ENSG00000164484		0.473	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	201	0.00	0	A	NM_052913		130762567	130762567	+1	no_errors	ENST00000296978	ensembl	human	known	69_37n	missense	198	12.00	27	SNP	0.000	C
TMEM35	59353	genome.wustl.edu	37	X	100349755	100349755	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100349755A>C	ENST00000372930.4	+	2	597	c.314A>C	c.(313-315)cAc>cCc	p.H105P	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	105						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CTCTTCTTCCACCAGCTGGTC	0.577																																						dbGAP											0													256.0	187.0	210.0					X																	100349755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.314A>C	X.37:g.100349755A>C	ENSP00000362021:p.His105Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7Y3	Missense_Mutation	SNP	NULL	p.H105P	ENST00000372930.4	37	c.314	CCDS14478.1	X	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109431	0.77096	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	.	0.044430	0.85682	D	0.000000	T	0.76205	0.3955	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	D	0.73380	0.98	T	0.78334	-0.2244	9	0.62326	D	0.03	-26.9872	14.5955	0.68403	1.0:0.0:0.0:0.0	.	105	Q53FP2	TMM35_HUMAN	P	105;64	.	ENSP00000362021:H105P	H	+	2	0	TMEM35	100236411	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.696000	0.91302	1.827000	0.53221	0.481000	0.45027	CAC	TMEM35	-	NULL	ENSG00000126950		0.577	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM35	HGNC	protein_coding	OTTHUMT00000057508.1	148	0.67	1	A	NM_021637		100349755	100349755	+1	no_errors	ENST00000372930	ensembl	human	known	69_37n	missense	192	21.86	54	SNP	1.000	C
TMEM50B	757	genome.wustl.edu	37	21	34837690	34837690	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:34837690A>C	ENST00000542230.2	-	4	453	c.239T>G	c.(238-240)gTg>gGg	p.V80G	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	80						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ATCACCTCTCACCTGAGCATT	0.348																																						dbGAP											0													126.0	113.0	117.0					21																	34837690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.239T>G	21.37:g.34837690A>C	ENSP00000439768:p.Val80Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	pfam_UPF0220	p.V80G	ENST00000542230.2	37	c.239	CCDS13625.1	21	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713796	0.89112	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504	T;T	0.34667	1.35;1.35	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.69367	-0.5164	10	0.87932	D	0	-26.9461	14.6877	0.69062	1.0:0.0:0.0:0.0	.	80	P56557	TM50B_HUMAN	G	80	ENSP00000439768:V80G;ENSP00000387622:V80G	ENSP00000371390:V80G	V	-	2	0	TMEM50B	33759560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.529000	0.90602	2.106000	0.64143	0.460000	0.39030	GTG	TMEM50B	-	pfam_UPF0220	ENSG00000142188		0.348	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50B	HGNC	protein_coding	OTTHUMT00000140080.5	89	0.00	0	A			34837690	34837690	-1	no_errors	ENST00000420455	ensembl	human	known	69_37n	missense	56	21.92	16	SNP	1.000	C
TMEM55B	90809	genome.wustl.edu	37	14	20926740	20926740	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20926740T>G	ENST00000250489.4	-	7	1098	c.812A>C	c.(811-813)cAc>cCc	p.H271P	TMEM55B_ENST00000398020.4_Missense_Mutation_p.H278P|TMEM55B_ENST00000554028.1_Missense_Mutation_p.H104P			Q86T03	TM55B_HUMAN	transmembrane protein 55B	271						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CTGGACAGGGTGGCTGACCTT	0.572																																						dbGAP											0													67.0	61.0	63.0					14																	20926740		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.812A>C	14.37:g.20926740T>G	ENSP00000250489:p.His271Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.H278P	ENST00000250489.4	37	c.833	CCDS9551.1	14	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426751	0.43020	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	4.8	4.8	0.61643	.	0.120349	0.56097	D	0.000029	T	0.48259	0.1490	L	0.29908	0.895	0.46096	D	0.998863	B;P	0.35982	0.396;0.531	B;B	0.37888	0.133;0.26	T	0.54801	-0.8239	9	0.66056	D	0.02	-5.5296	13.45	0.61165	0.0:0.0:0.0:1.0	.	271;278	Q86T03;Q86T03-2	TM55B_HUMAN;.	P	271;278;104	.	ENSP00000250489:H271P	H	-	2	0	TMEM55B	19996580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.976000	0.76135	2.017000	0.59298	0.460000	0.39030	CAC	TMEM55B	-	NULL	ENSG00000165782		0.572	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3	56	0.00	0	T	NM_144568		20926740	20926740	-1	no_errors	ENST00000398020	ensembl	human	known	69_37n	missense	19	47.22	17	SNP	1.000	G
TMEM55B	90809	genome.wustl.edu	37	14	20927382	20927382	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:20927382T>G	ENST00000250489.4	-	6	959	c.673A>C	c.(673-675)Act>Cct	p.T225P	TMEM55B_ENST00000398020.4_Missense_Mutation_p.T232P|TMEM55B_ENST00000554028.1_Missense_Mutation_p.T58P			Q86T03	TM55B_HUMAN	transmembrane protein 55B	225						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CCAGTGGCAGTGACTGCCAAA	0.493																																						dbGAP											0													137.0	128.0	131.0					14																	20927382		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.673A>C	14.37:g.20927382T>G	ENSP00000250489:p.Thr225Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.T232P	ENST00000250489.4	37	c.694	CCDS9551.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.12|15.12	2.737728|2.737728	0.49045|0.49045	.|.	.|.	ENSG00000165782|ENSG00000165782	ENST00000553460|ENST00000250489;ENST00000398020;ENST00000554028	.|T	.|0.69435	.|-0.4	5.06|5.06	3.91|3.91	0.45181|0.45181	.|.	.|0.115220	.|0.64402	.|D	.|0.000012	T|T	0.52041|0.52041	0.1710|0.1710	L|L	0.34521|0.34521	1.04|1.04	0.41950|0.41950	D|D	0.990656|0.990656	.|P;P	.|0.41748	.|0.761;0.718	.|B;B	.|0.39119	.|0.291;0.26	T|T	0.51560|0.51560	-0.8690|-0.8690	5|10	.|0.52906	.|T	.|0.07	-4.6131|-4.6131	7.3776|7.3776	0.26837|0.26837	0.0:0.1733:0.0:0.8267|0.0:0.1733:0.0:0.8267	.|.	.|225;232	.|Q86T03;Q86T03-2	.|TM55B_HUMAN;.	P|P	64|225;232;58	.|ENSP00000451350:T58P	.|ENSP00000250489:T225P	H|T	-|-	2|1	0|0	TMEM55B|TMEM55B	19997222|19997222	0.978000|0.978000	0.34361|0.34361	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.399000|1.399000	0.34566|0.34566	0.784000|0.784000	0.33661|0.33661	-0.250000|-0.250000	0.11733|0.11733	CAC|ACT	TMEM55B	-	pfam_Transmembrane_protein_55A/B	ENSG00000165782		0.493	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3	128	0.00	0	T	NM_144568		20927382	20927382	-1	no_errors	ENST00000398020	ensembl	human	known	69_37n	missense	77	13.19	12	SNP	1.000	G
TMEM63A	9725	genome.wustl.edu	37	1	226034979	226034979	+	Intron	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:226034979T>C	ENST00000366835.3	-	24	2521				RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ATCCCTCCCCTCCTGCCCTTC	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2251-65A>G	1.37:g.226034979T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI7|Q5TE96|Q8N2U2	RNA	SNP	-	NULL	ENST00000366835.3	37	NULL	CCDS31042.1	1																																																																																			TMEM63A	-	-	ENSG00000196187		0.522	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	26	0.00	0	T	NM_014698		226034979	226034979	-1	no_errors	ENST00000496025	ensembl	human	known	69_37n	rna	19	25.00	7	SNP	0.001	C
TMEM63A	9725	genome.wustl.edu	37	1	226047009	226047009	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:226047009A>C	ENST00000366835.3	-	15	1534	c.1264T>G	c.(1264-1266)Tgg>Ggg	p.W422G	TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	422					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ATGCCCAGCCACTGTAGCCAC	0.557																																						dbGAP											0													85.0	81.0	83.0					1																	226047009		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1264T>G	1.37:g.226047009A>C	ENSP00000355800:p.Trp422Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.W422G	ENST00000366835.3	37	c.1264	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127982	0.37533	.	.	ENSG00000196187	ENST00000366835	T	0.28666	1.6	5.07	5.07	0.68467	Domain of unknown function DUF221 (1);	0.280434	0.43110	D	0.000606	T	0.29882	0.0747	L	0.40543	1.245	0.80722	D	1	B	0.27264	0.173	B	0.34346	0.18	T	0.06499	-1.0823	10	0.26408	T	0.33	-4.1251	14.8201	0.70065	1.0:0.0:0.0:0.0	.	422	O94886	TM63A_HUMAN	G	422	ENSP00000355800:W422G	ENSP00000355800:W422G	W	-	1	0	TMEM63A	224113632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.092000	0.76930	1.921000	0.55644	0.459000	0.35465	TGG	TMEM63A	-	pfam_DUF221	ENSG00000196187		0.557	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	46	0.00	0	A	NM_014698		226047009	226047009	-1	no_errors	ENST00000366835	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	C
TMEM79	84283	genome.wustl.edu	37	1	156255128	156255128	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:156255128T>G	ENST00000405535.2	+	2	282	c.111T>G	c.(109-111)ggT>ggG	p.G37G	TMEM79_ENST00000357501.2_Intron|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000295694.5_Silent_p.G37G|SMG5_ENST00000368267.5_5'Flank|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	37					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					AAGGGGAAGGTGGGGCCGAAT	0.607																																						dbGAP											0													34.0	40.0	38.0					1																	156255128		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.111T>G	1.37:g.156255128T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE22|D3DVB8	Silent	SNP	NULL	p.G37	ENST00000405535.2	37	c.111	CCDS1138.1	1																																																																																			TMEM79	-	NULL	ENSG00000163472		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	HGNC	protein_coding	OTTHUMT00000052101.1	29	0.00	0	T	NM_032323		156255128	156255128	+1	no_errors	ENST00000295694	ensembl	human	known	69_37n	silent	42	17.65	9	SNP	0.001	G
TMEM81	388730	genome.wustl.edu	37	1	205052791	205052791	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:205052791A>C	ENST00000367167.3	-	1	854	c.658T>G	c.(658-660)Tgg>Ggg	p.W220G		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	220						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCTTTTTCCACTTTGGGTGG	0.493																																						dbGAP											0													117.0	108.0	111.0					1																	205052791		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.658T>G	1.37:g.205052791A>C	ENSP00000356135:p.Trp220Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UVZ4	Missense_Mutation	SNP	pfscan_Ig-like	p.W220G	ENST00000367167.3	37	c.658	CCDS1450.1	1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311480	0.60414	.	.	ENSG00000174529	ENST00000367167	T	0.38077	1.16	5.79	4.66	0.58398	.	0.338132	0.28665	N	0.014554	T	0.53465	0.1798	M	0.67953	2.075	0.35500	D	0.799694	D	0.76494	0.999	D	0.65443	0.935	T	0.65861	-0.6065	10	0.66056	D	0.02	-29.8423	10.4286	0.44393	0.9244:0.0:0.0756:0.0	.	220	Q6P7N7	TMM81_HUMAN	G	220	ENSP00000356135:W220G	ENSP00000356135:W220G	W	-	1	0	TMEM81	203319414	0.983000	0.35010	0.991000	0.47740	0.597000	0.36814	2.730000	0.47335	2.212000	0.71576	0.533000	0.62120	TGG	TMEM81	-	NULL	ENSG00000174529		0.493	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM81	HGNC	protein_coding	OTTHUMT00000090076.1	170	0.00	0	A	NM_203376		205052791	205052791	-1	no_errors	ENST00000367167	ensembl	human	known	69_37n	missense	257	10.45	30	SNP	0.991	C
TMEM63A	9725	genome.wustl.edu	37	1	226048591	226048591	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:226048591T>G	ENST00000366835.3	-	14	1462	c.1192A>C	c.(1192-1194)Acc>Ccc	p.T398P	TMEM63A_ENST00000537914.1_Missense_Mutation_p.T72P|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	398					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCAAAGGTGACTGTCCAC	0.572																																						dbGAP											0													136.0	115.0	122.0					1																	226048591		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1192A>C	1.37:g.226048591T>G	ENSP00000355800:p.Thr398Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.T398P	ENST00000366835.3	37	c.1192	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749993	0.30955	.	.	ENSG00000196187	ENST00000366835;ENST00000537914	T	0.32515	1.45	5.77	-6.04	0.02178	Domain of unknown function DUF221 (1);	0.514494	0.24287	N	0.039854	T	0.22589	0.0545	L	0.46157	1.445	0.09310	N	1	P	0.38565	0.637	B	0.43783	0.431	T	0.15350	-1.0440	10	0.35671	T	0.21	-14.3349	6.234	0.20752	0.1877:0.3482:0.0:0.4641	.	398	O94886	TM63A_HUMAN	P	398;72	ENSP00000355800:T398P	ENSP00000355800:T398P	T	-	1	0	TMEM63A	224115214	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.060000	0.11712	-0.706000	0.05028	0.459000	0.35465	ACC	TMEM63A	-	pfam_DUF221	ENSG00000196187		0.572	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	135	0.72	1	T	NM_014698		226048591	226048591	-1	no_errors	ENST00000366835	ensembl	human	known	69_37n	missense	174	13.66	28	SNP	0.000	G
TMEM95	339168	genome.wustl.edu	37	17	7259966	7259966	+	3'UTR	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7259966T>C	ENST00000576060.1	+	0	573				TMEM95_ENST00000389982.4_Missense_Mutation_p.S180P|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_3'UTR			Q3KNT9	TMM95_HUMAN	transmembrane protein 95							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GCTGAAAACCTCCCAGCCTCC	0.582																																						dbGAP											0													63.0	61.0	62.0					17																	7259966		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.*15T>C	17.37:g.7259966T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	NULL	p.S180P	ENST00000576060.1	37	c.538		17	.	.	.	.	.	.	.	.	.	.	T	16.54	3.153080	0.57259	.	.	ENSG00000182896	ENST00000389982	.	.	.	4.03	-3.06	0.05379	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.31447	-0.9943	7	0.87932	D	0	.	0.8853	0.01243	0.1618:0.1763:0.3291:0.3328	.	180	Q3KNT9-3	.	P	180	.	ENSP00000374632:S180P	S	+	1	0	TMEM95	7200690	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-0.103000	0.10940	-0.384000	0.07845	0.379000	0.24179	TCC	TMEM95	-	NULL	ENSG00000182896		0.582	TMEM95-003	KNOWN	basic	protein_coding	TMEM95	HGNC	protein_coding	OTTHUMT00000440555.2	100	0.99	1	T	NM_198154		7259966	7259966	+1	no_errors	ENST00000389982	ensembl	human	known	69_37n	missense	60	25.00	20	SNP	0.000	C
TMF1	7110	genome.wustl.edu	37	3	69084265	69084265	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:69084265A>C	ENST00000398559.2	-	9	2369	c.2153T>G	c.(2152-2154)gTg>gGg	p.V718G	CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000543976.1_Splice_Site_p.V721G|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	718					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AAGGTCCCCCACCTGTAGGAG	0.428																																						dbGAP											0													153.0	149.0	150.0					3																	69084265		1947	4150	6097	-	-	-	SO:0001630	splice_region_variant	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2152-1T>G	3.37:g.69084265A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.V721G	ENST00000398559.2	37	c.2162	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453722	0.63290	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.23147	1.92;1.92	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.57124	-0.7865	10	0.87932	D	0	-10.8158	15.0578	0.71927	1.0:0.0:0.0:0.0	.	721;718	P82094-2;P82094	.;TMF1_HUMAN	G	718;721;634	ENSP00000381567:V718G;ENSP00000438706:V721G	ENSP00000348582:V634G	V	-	2	0	TMF1	69166955	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	9.287000	0.95975	2.012000	0.59069	0.533000	0.62120	GTG	TMF1	-	NULL	ENSG00000144747		0.428	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	117	0.00	0	A	NM_007114	Missense_Mutation	69084265	69084265	-1	no_errors	ENST00000543976	ensembl	human	known	69_37n	missense	129	19.75	32	SNP	1.000	C
TMIGD2	126259	genome.wustl.edu	37	19	4292609	4292609	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:4292609A>C	ENST00000301272.2	-	5	881	c.836T>G	c.(835-837)gTg>gGg	p.V279G	TMIGD2_ENST00000595645.1_Missense_Mutation_p.V275G|TMIGD2_ENST00000600114.1_Missense_Mutation_p.V159G|TMIGD2_ENST00000600349.1_Missense_Mutation_p.V107G	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	279					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCTCCCACTTTGGGGAA	0.637																																						dbGAP											0													95.0	107.0	103.0					19																	4292609		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.836T>G	19.37:g.4292609A>C	ENSP00000301272:p.Val279Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW59	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.V279G	ENST00000301272.2	37	c.836	CCDS12126.1	19	.	.	.	.	.	.	.	.	.	.	A	4.476	0.088292	0.08583	.	.	ENSG00000167664	ENST00000301272	T	0.33438	1.41	2.14	-4.28	0.03732	.	.	.	.	.	T	0.19967	0.0480	N	0.24115	0.695	0.09310	N	1	P;P	0.44659	0.84;0.753	P;B	0.44394	0.448;0.262	T	0.16867	-1.0388	9	0.87932	D	0	.	6.0619	0.19842	0.2539:0.1899:0.5562:0.0	.	275;279	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	G	279	ENSP00000301272:V279G	ENSP00000301272:V279G	V	-	2	0	TMIGD2	4243609	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.152000	0.10159	-1.455000	0.01923	-1.419000	0.01111	GTG	TMIGD2	-	NULL	ENSG00000167664		0.637	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMIGD2	HGNC	protein_coding	OTTHUMT00000458088.1	26	0.00	0	A	NM_144615		4292609	4292609	-1	no_errors	ENST00000301272	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.000	C
SCNM1	79005	genome.wustl.edu	37	1	151143933	151143933	+	IGR	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:151143933C>T	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Silent_p.T165T	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACCACTCCTCGTGGCTACCA	0.512																																						dbGAP											0													203.0	163.0	177.0					1																	151143933		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143933C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR1|Q5JR74	Silent	SNP	pfam_Tropomodulin	p.T234	ENST00000368905.4	37	c.702	CCDS987.1	1																																																																																			TMOD4	-	NULL	ENSG00000163157		0.512	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	TMOD4	HGNC	protein_coding	OTTHUMT00000034064.2	156	0.00	0	C	NM_024041		151143933	151143933	-1	no_errors	ENST00000295314	ensembl	human	known	69_37n	silent	316	12.91	47	SNP	0.534	T
TMPO	7112	genome.wustl.edu	37	12	98927870	98927870	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:98927870A>C	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.H612P|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTCGTACCCACCAAGCGCTT	0.458																																						dbGAP											0													91.0	76.0	81.0					12																	98927870		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2254A>C	12.37:g.98927870A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2T926|Q14861	Missense_Mutation	SNP	pfam_LAP2alpha,pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.H612P	ENST00000556029.1	37	c.1835	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.458155	0.01071	.	.	ENSG00000120802	ENST00000266732	T	0.56103	0.48	5.96	-1.11	0.09840	.	2.493450	0.00919	N	0.002567	T	0.30135	0.0755	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10086	-1.0645	10	0.26408	T	0.33	.	4.0164	0.09646	0.3096:0.4849:0.0828:0.1228	.	612	P42166	LAP2A_HUMAN	P	612	ENSP00000266732:H612P	ENSP00000266732:H612P	H	+	2	0	TMPO	97452001	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.071000	0.11505	-0.132000	0.11557	0.533000	0.62120	CAC	TMPO	-	pfam_LAP2alpha	ENSG00000120802		0.458	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	80	0.00	0	A	NM_003276		98927870	98927870	+1	no_errors	ENST00000266732	ensembl	human	known	69_37n	missense	76	13.64	12	SNP	0.000	C
TNC	3371	genome.wustl.edu	37	9	117826954	117826954	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:117826954T>G	ENST00000350763.4	-	11	3870	c.3459A>C	c.(3457-3459)acA>acC	p.T1153T	TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Silent_p.T1153T|TNC_ENST00000341037.4_Silent_p.T1153T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1153	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGAGCACTGGTGTTCTATAGC	0.517																																						dbGAP											0													170.0	177.0	175.0					9																	117826954		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3459A>C	9.37:g.117826954T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.T80P	ENST00000350763.4	37	c.238	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	9.909	1.208938	0.22205	.	.	ENSG00000041982	ENST00000544972	T	0.04603	3.59	5.4	2.89	0.33648	.	0.074545	0.53938	D	0.000043	T	0.10981	0.0268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01480	-1.1344	7	0.62326	D	0.03	.	8.5042	0.33177	0.1228:0.0:0.3817:0.4955	.	.	.	.	P	80	ENSP00000445380:T80P	ENSP00000445380:T80P	T	-	1	0	TNC	116866775	0.635000	0.27199	1.000000	0.80357	0.989000	0.77384	0.092000	0.15066	0.867000	0.35654	0.455000	0.32223	ACC	TNC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	327	0.30	1	T	NM_002160		117826954	117826954	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000544972	ensembl	human	novel	69_37n	missense	265	11.07	33	SNP	0.977	G
TNFSF4	7292	genome.wustl.edu	37	1	173174624	173174624	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:173174624A>C	ENST00000281834.3	-	1	290				TNFSF4_ENST00000367718.1_5'UTR|TNFSF4_ENST00000488053.1_5'UTR	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4						acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						ACTGTGGTTCACCTTTTGCTC	0.458																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.153+1538T>G	1.37:g.173174624A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZA5|Q8IV74|Q9HCN9	RNA	SNP	-	NULL	ENST00000281834.3	37	NULL	CCDS1306.1	1																																																																																			TNFSF4	-	-	ENSG00000117586		0.458	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF4	HGNC	protein_coding	OTTHUMT00000084271.1	69	0.00	0	A			173174624	173174624	-1	no_errors	ENST00000488053	ensembl	human	known	69_37n	rna	85	24.56	28	SNP	0.013	C
TNIP2	79155	genome.wustl.edu	37	4	2749581	2749581	+	Missense_Mutation	SNP	A	A	C	rs200663327		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:2749581A>C	ENST00000315423.7	-	2	454	c.368T>G	c.(367-369)gTc>gGc	p.V123G	TNIP2_ENST00000503235.1_Missense_Mutation_p.V123G|TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000510267.1_Missense_Mutation_p.V16G	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGCAGGACGACTTCCTTCTC	0.612																																						dbGAP											0													68.0	66.0	67.0					4																	2749581		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.368T>G	4.37:g.2749581A>C	ENSP00000321203:p.Val123Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_EABR	p.V123G	ENST00000315423.7	37	c.368	CCDS3362.1	4	.	.	.	.	.	.	.	.	.	.	a	16.55	3.155427	0.57259	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.54071	0.59;0.59;0.59	3.81	1.1	0.20463	.	0.216636	0.36628	N	0.002493	T	0.61800	0.2376	M	0.67953	2.075	0.21473	N	0.999679	D;P	0.76494	0.999;0.718	D;B	0.64776	0.929;0.12	T	0.52094	-0.8621	10	0.62326	D	0.03	-10.5687	6.2731	0.20965	0.6754:0.1657:0.0:0.1588	.	123;123	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	16;123;123	ENSP00000427613:V16G;ENSP00000321203:V123G;ENSP00000426314:V123G	ENSP00000321203:V123G	V	-	2	0	TNIP2	2719379	0.826000	0.29277	0.000000	0.03702	0.018000	0.09664	4.276000	0.58933	0.136000	0.18733	0.449000	0.29647	GTC	TNIP2	-	NULL	ENSG00000168884		0.612	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP2	HGNC	protein_coding	OTTHUMT00000206589.5	53	0.00	0	A	NM_024309		2749581	2749581	-1	no_errors	ENST00000315423	ensembl	human	known	69_37n	missense	33	10.53	4	SNP	0.021	C
TNKS	8658	genome.wustl.edu	37	8	9590797	9590797	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:9590797T>G	ENST00000310430.6	+	15	2182	c.2156T>G	c.(2155-2157)gTg>gGg	p.V719G	TNKS_ENST00000518281.1_Missense_Mutation_p.V482G	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	719					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGTGGCTTGGTGCCCCTTCAT	0.373																																						dbGAP											0													115.0	105.0	109.0					8																	9590797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2156T>G	8.37:g.9590797T>G	ENSP00000311579:p.Val719Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom	p.V719G	ENST00000310430.6	37	c.2156	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611050	0.87258	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.64085	-0.08;-0.08	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73100	-0.4089	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	719	O95271	TNKS1_HUMAN	G	719;482	ENSP00000311579:V719G;ENSP00000429890:V482G	ENSP00000311579:V719G	V	+	2	0	TNKS	9628207	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	GTG	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000173273		0.373	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	110	0.00	0	T	NM_003747		9590797	9590797	+1	no_errors	ENST00000310430	ensembl	human	known	69_37n	missense	72	22.34	21	SNP	1.000	G
TNNI3	7137	genome.wustl.edu	37	19	55665420	55665420	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:55665420A>C	ENST00000344887.5	-	7	669	c.527T>G	c.(526-528)gTg>gGg	p.V176G	TNNI3_ENST00000588882.1_Missense_Mutation_p.V151G|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	176					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCCTTCTTCACCTGCTTGAG	0.632																																						dbGAP											0													61.0	65.0	63.0					19																	55665420		2038	4209	6247	-	-	-	SO:0001583	missense	0			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.527T>G	19.37:g.55665420A>C	ENSP00000341838:p.Val176Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Troponin,pfam_Troponin-I_N	p.V176G	ENST00000344887.5	37	c.527	CCDS42628.1	19	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845204	0.71603	.	.	ENSG00000129991	ENST00000344887	D	0.94966	-3.57	4.72	3.66	0.41972	.	0.108647	0.38326	N	0.001737	D	0.96694	0.8921	M	0.92555	3.32	0.80722	D	1	D	0.54207	0.965	P	0.55345	0.774	D	0.96001	0.8993	10	0.87932	D	0	-0.5418	9.7391	0.40406	0.8444:0.0:0.0:0.1556	.	176	P19429	TNNI3_HUMAN	G	176	ENSP00000341838:V176G	ENSP00000341838:V176G	V	-	2	0	TNNI3	60357232	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.074000	0.93998	0.707000	0.31934	0.477000	0.44152	GTG	TNNI3	-	pfam_Troponin	ENSG00000129991		0.632	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	51	0.00	0	A			55665420	55665420	-1	no_errors	ENST00000344887	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	1.000	C
TNRC6A	27327	genome.wustl.edu	37	16	24788593	24788593	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:24788593T>G	ENST00000395799.3	+	5	632	c.503T>G	c.(502-504)gTg>gGg	p.V168G	TNRC6A_ENST00000315183.7_Missense_Mutation_p.V168G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	168	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCTGTTAAGGTGTTAAACAGC	0.453																																						dbGAP											0													151.0	158.0	156.0					16																	24788593		2109	4268	6377	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.503T>G	16.37:g.24788593T>G	ENSP00000379144:p.Val168Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.V168G	ENST00000395799.3	37	c.503	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	T	8.303	0.820450	0.16678	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11712	2.75;2.77	5.93	2.5	0.30297	.	0.153629	0.42821	D	0.000654	T	0.08802	0.0218	L	0.42245	1.32	0.80722	D	1	B	0.20052	0.041	B	0.19391	0.025	T	0.24621	-1.0155	10	0.14252	T	0.57	-0.1364	9.2985	0.37831	0.0:0.2678:0.0:0.7322	.	168	Q8NDV7	TNR6A_HUMAN	G	168	ENSP00000326900:V168G;ENSP00000379144:V168G	ENSP00000326900:V168G	V	+	2	0	TNRC6A	24696094	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.004000	0.40854	0.162000	0.19483	-0.353000	0.07706	GTG	TNRC6A	-	NULL	ENSG00000090905		0.453	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	339	0.00	0	T	NM_020847		24788593	24788593	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	260	12.46	37	SNP	0.999	G
TNRC6A	27327	genome.wustl.edu	37	16	24802373	24802373	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:24802373T>G	ENST00000395799.3	+	6	2539	c.2410T>G	c.(2410-2412)Tgg>Ggg	p.W804G	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W804G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	804	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCAGGGGGGGTGGGAAGATGA	0.502																																						dbGAP											0													32.0	33.0	33.0					16																	24802373		2195	4298	6493	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2410T>G	16.37:g.24802373T>G	ENSP00000379144:p.Trp804Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.W804G	ENST00000395799.3	37	c.2410	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423311	0.43020	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.25085	1.82;1.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.997;0.965;0.999	D;P;D	0.83275	0.996;0.786;0.994	T	0.51036	-0.8756	10	0.62326	D	0.03	-3.5562	12.7167	0.57119	0.0:0.0:0.1371:0.8629	.	551;804;804	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	G	804	ENSP00000326900:W804G;ENSP00000379144:W804G	ENSP00000326900:W804G	W	+	1	0	TNRC6A	24709874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.409000	0.59768	2.234000	0.73211	0.533000	0.62120	TGG	TNRC6A	-	NULL	ENSG00000090905		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	76	0.00	0	T	NM_020847		24802373	24802373	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	90	15.89	17	SNP	1.000	G
TNRC6A	27327	genome.wustl.edu	37	16	24831605	24831605	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:24831605A>C	ENST00000395799.3	+	22	5355	c.5226A>C	c.(5224-5226)ccA>ccC	p.P1742P	TNRC6A_ENST00000315183.7_Silent_p.P1693P|TNRC6A_ENST00000432286.2_Silent_p.P220P|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1742	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTCAGAAGCCACCCTTGTCTA	0.542																																						dbGAP											0													119.0	114.0	116.0					16																	24831605		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5226A>C	16.37:g.24831605A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P1742	ENST00000395799.3	37	c.5226	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	A	11.06	1.527529	0.27299	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.79	-1.39	0.08997	.	.	.	.	.	T	0.41743	0.1172	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29088	-1.0023	4	.	.	.	-7.4384	2.3705	0.04330	0.567:0.1122:0.1254:0.1953	.	.	.	.	P	633	.	.	T	+	1	0	TNRC6A	24739106	0.923000	0.31300	0.997000	0.53966	0.997000	0.91878	0.038000	0.13862	-0.133000	0.11537	0.533000	0.62120	ACC	TNRC6A	-	NULL	ENSG00000090905		0.542	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	135	0.00	0	A	NM_020847		24831605	24831605	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	silent	113	24.34	37	SNP	0.979	C
TNRC6B	23112	genome.wustl.edu	37	22	40662548	40662548	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:40662548T>G	ENST00000454349.2	+	5	2525	c.2314T>G	c.(2314-2316)Tgg>Ggg	p.W772G	TNRC6B_ENST00000335727.9_Missense_Mutation_p.W772G|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	772	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGTGTCTGGGTGGGGTGAAGG	0.498																																						dbGAP											0													63.0	71.0	68.0					22																	40662548		1939	4138	6077	-	-	-	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2314T>G	22.37:g.40662548T>G	ENSP00000401946:p.Trp772Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.W772G	ENST00000454349.2	37	c.2314	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	t	12.48	1.950920	0.34471	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.23348	2.19;1.91	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.55213	1.73	0.47511	D	0.999444	D;B;B	0.60160	0.987;0.008;0.013	D;B;B	0.67725	0.953;0.005;0.01	T	0.37150	-0.9718	10	0.54805	T	0.06	-2.7983	15.516	0.75826	0.0:0.0:0.0:1.0	.	772;772;772	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	G	772	ENSP00000401946:W772G;ENSP00000338371:W772G	ENSP00000338371:W772G	W	+	1	0	TNRC6B	38992494	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.055000	0.71103	2.078000	0.62432	0.454000	0.30748	TGG	TNRC6B	-	NULL	ENSG00000100354		0.498	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		154	0.64	1	T			40662548	40662548	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	99	27.21	37	SNP	1.000	G
TNRC6B	23112	genome.wustl.edu	37	22	40681696	40681696	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:40681696T>G	ENST00000454349.2	+	12	3841	c.3630T>G	c.(3628-3630)ggT>ggG	p.G1210G	TNRC6B_ENST00000335727.9_Silent_p.G1100G|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Silent_p.G406G|TNRC6B_ENST00000301923.9_Silent_p.G406G	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1210	Gln-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AATCGAGAGGTCTGCACACAC	0.478																																						dbGAP											0													98.0	97.0	97.0					22																	40681696		1915	4119	6034	-	-	-	SO:0001819	synonymous_variant	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3630T>G	22.37:g.40681696T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.V896G	ENST00000454349.2	37	c.2687	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528277	0.27299	.	.	ENSG00000100354	ENST00000446273	.	.	.	5.54	-5.5	0.02576	.	.	.	.	.	T	0.51143	0.1657	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	T	0.52533	-0.8563	4	.	.	.	-7.984	9.6035	0.39619	0.1984:0.5573:0.0:0.2443	.	.	.	.	G	896	.	.	V	+	2	0	TNRC6B	39011642	0.117000	0.22190	0.829000	0.32907	0.998000	0.95712	-0.968000	0.03817	-1.140000	0.02877	0.533000	0.62120	GTC	TNRC6B	-	NULL	ENSG00000100354		0.478	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		249	0.80	2	T			40681696	40681696	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446273	ensembl	human	putative	69_37n	missense	197	11.26	25	SNP	0.545	G
TNS4	84951	genome.wustl.edu	37	17	38634869	38634869	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:38634869T>G	ENST00000254051.6	-	11	2100	c.1942A>C	c.(1942-1944)Acc>Ccc	p.T648P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	648	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGCGGAGGGTGGTGAGTGGG	0.602																																						dbGAP											0													118.0	90.0	100.0					17																	38634869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1942A>C	17.37:g.38634869T>G	ENSP00000254051:p.Thr648Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.T648P	ENST00000254051.6	37	c.1942	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598287	0.46318	.	.	ENSG00000131746	ENST00000377816;ENST00000394072;ENST00000254051	T	0.45668	0.89	5.0	3.92	0.45320	Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.128651	0.35262	N	0.003332	T	0.59238	0.2179	M	0.73962	2.25	0.18873	N	0.999981	D;D	0.61080	0.988;0.989	D;P	0.69142	0.962;0.767	T	0.52426	-0.8577	10	0.72032	D	0.01	-22.1003	8.1927	0.31379	0.0:0.1723:0.0:0.8277	.	648;61	Q8IZW8;F2Z318	TENS4_HUMAN;.	P	648;61;648	ENSP00000254051:T648P	ENSP00000254051:T648P	T	-	1	0	TNS4	35888395	0.989000	0.36119	0.848000	0.33437	0.542000	0.35054	0.932000	0.28884	0.774000	0.33427	0.379000	0.24179	ACC	TNS4	-	pfam_PTB,smart_PTyr_interaction_dom	ENSG00000131746		0.602	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	71	0.00	0	T	NM_032865		38634869	38634869	-1	no_errors	ENST00000254051	ensembl	human	known	69_37n	missense	72	17.24	15	SNP	0.194	G
TNRC6C	57690	genome.wustl.edu	37	17	76063872	76063872	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:76063872T>G	ENST00000588061.1	+	7	3373	c.2646T>G	c.(2644-2646)ggT>ggG	p.G882G	TNRC6C_ENST00000335749.4_Silent_p.G879G|TNRC6C_ENST00000301624.4_Silent_p.G882G|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.G879G|TNRC6C_ENST00000544502.1_Silent_p.G879G|TNRC6C_ENST00000541771.1_Silent_p.G882G			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	882	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGCAGTGGTGGGGATGAAA	0.483																																						dbGAP											0													129.0	132.0	131.0					17																	76063872		1952	4151	6103	-	-	-	SO:0001819	synonymous_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2646T>G	17.37:g.76063872T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.G879	ENST00000588061.1	37	c.2637	CCDS45798.1	17																																																																																			TNRC6C	-	pfam_Argonaute_hook_dom	ENSG00000078687		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	93	0.00	0	T	NM_018996		76063872	76063872	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	silent	95	16.67	19	SNP	1.000	G
TNXB	7148	genome.wustl.edu	37	6	32050067	32050067	+	Missense_Mutation	SNP	T	T	G	rs185819	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:32050067T>G	ENST00000375244.3	-	9	3683	c.3482A>C	c.(3481-3483)cAc>cCc	p.H1161P	TNXB_ENST00000375247.2_Missense_Mutation_p.H1161P			P22105	TENX_HUMAN	tenascin XB	1248	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTTCCCAGGTGGGGTGGAGT	0.567																																						dbGAP											0													139.0	110.0	119.0					6																	32050067		1237	2544	3781	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3482A>C	6.37:g.32050067T>G	ENSP00000364393:p.His1161Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.H1161P	ENST00000375244.3	37	c.3482		6	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068684	0.20147	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.44881	0.91;0.91	4.83	3.96	0.45880	.	0.000000	0.47852	D	0.000212	T	0.10380	0.0254	N	0.12182	0.205	0.43172	P	0.005021000000000053	B	0.25105	0.118	B	0.28849	0.095	T	0.13176	-1.0519	9	0.27785	T	0.31	.	8.7396	0.34550	0.0:0.8216:0.0:0.1784	.	1161	P22105-3	.	P	1161	ENSP00000364393:H1161P;ENSP00000364396:H1161P	ENSP00000364393:H1161P	H	-	2	0	TNXB	32158045	0.999000	0.42202	0.882000	0.34594	0.081000	0.17604	1.334000	0.33827	0.658000	0.30925	-0.479000	0.04858	CAC	TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.567	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	258	0.38	1	T	NM_019105		32050067	32050067	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	230	16.67	46	SNP	0.990	G
TP53	7157	genome.wustl.edu	37	17	7579429	7579429	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:7579429T>G	ENST00000269305.4	-	4	447	c.258A>C	c.(256-258)gcA>gcC	p.A86A	TP53_ENST00000455263.2_Silent_p.A86A|TP53_ENST00000420246.2_Silent_p.A86A|TP53_ENST00000445888.2_Silent_p.A86A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Silent_p.A86A|TP53_ENST00000359597.4_Silent_p.A86A	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	86	Interaction with WWOX.		A -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.A86fs*34(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.P87fs*54(1)|p.A83fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGGGCTGGTGCAGGGGCCG	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	27	Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(4)	upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|bone(4)|ovary(3)|central_nervous_system(2)|stomach(1)|urinary_tract(1)|breast(1)|prostate(1)											47.0	54.0	52.0					17																	7579429		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.258A>C	17.37:g.7579429T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.A86	ENST00000269305.4	37	c.258	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	143	0.00	0	T	NM_000546		7579429	7579429	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	silent	136	18.45	31	SNP	0.586	G
TP53BP1	7158	genome.wustl.edu	37	15	43708608	43708608	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:43708608A>C	ENST00000263801.3	-	22	4925	c.4673T>G	c.(4672-4674)gTg>gGg	p.V1558G	TP53BP1_ENST00000382044.4_Missense_Mutation_p.V1563G|TP53BP1_ENST00000450115.2_Missense_Mutation_p.V1563G|TP53BP1_ENST00000382039.3_Missense_Mutation_p.V1513G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1558	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGTCCTTTCACCACTCCTGG	0.493								Other conserved DNA damage response genes																														dbGAP											0													96.0	86.0	89.0					15																	43708608		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4673T>G	15.37:g.43708608A>C	ENSP00000263801:p.Val1558Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.V1563G	ENST00000263801.3	37	c.4688	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791941	0.90453	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.87	5.87	0.94306	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.66114	-0.6004	10	0.87932	D	0	-11.7994	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1563;1558;1563;1563	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	G	1558;1563;1513;1563	ENSP00000263801:V1558G;ENSP00000371475:V1563G;ENSP00000371470:V1513G;ENSP00000393497:V1563G	ENSP00000263801:V1558G	V	-	2	0	TP53BP1	41495900	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.851000	0.92205	2.371000	0.80710	0.533000	0.62120	GTG	TP53BP1	-	pfam_53-BP1_Tudor	ENSG00000067369		0.493	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	128	0.00	0	A			43708608	43708608	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	161	14.74	28	SNP	1.000	C
TP53I3	9540	genome.wustl.edu	37	2	24302509	24302509	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:24302509A>C	ENST00000238721.4	-	4	1475	c.621T>G	c.(619-621)ggT>ggG	p.G207G	TP53I3_ENST00000313482.4_Intron|TP53I3_ENST00000335934.4_Splice_Site_p.G207G|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Intron|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	207					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACTCCAGCACCTTCCATAG	0.433																																						dbGAP											0													78.0	76.0	77.0					2																	24302509		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.620-1T>G	2.37:g.24302509A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	p.G207	ENST00000238721.4	37	c.621	CCDS1708.1	2																																																																																			TP53I3	-	pfam_ADH_C,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	ENSG00000115129		0.433	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I3	HGNC	protein_coding	OTTHUMT00000207618.2	149	0.67	1	A	NM_004881	Silent	24302509	24302509	-1	no_errors	ENST00000238721	ensembl	human	known	69_37n	silent	108	18.80	25	SNP	0.999	C
TPGS2	25941	genome.wustl.edu	37	18	34378441	34378441	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:34378441T>G	ENST00000334295.4	-	6	1055	c.628A>C	c.(628-630)Acc>Ccc	p.T210P	TPGS2_ENST00000590842.1_Missense_Mutation_p.T210P|TPGS2_ENST00000589049.1_Missense_Mutation_p.T210P|TPGS2_ENST00000593035.1_Missense_Mutation_p.T175P|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Missense_Mutation_p.T167P|TPGS2_ENST00000587129.1_Missense_Mutation_p.T210P	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	210						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCATAGCTGGTGAAGGCATAT	0.493																																						dbGAP											0													126.0	125.0	125.0					18																	34378441		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.628A>C	18.37:g.34378441T>G	ENSP00000335144:p.Thr210Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	smart_Cell_wall_assmbl_KNR4-like	p.T210P	ENST00000334295.4	37	c.628	CCDS32817.1	18	.	.	.	.	.	.	.	.	.	.	T	29.5	5.011276	0.93346	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	T;T	0.53206	0.65;0.63	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.997;0.994;0.999	T	0.74241	-0.3729	10	0.87932	D	0	-22.1631	16.8222	0.85835	0.0:0.0:0.0:1.0	.	175;210;167;210	B4DIX2;Q68CL5-3;Q68CL5-1;Q68CL5	.;.;.;TPGS2_HUMAN	P	210;167	ENSP00000335144:T210P;ENSP00000372530:T167P	ENSP00000335144:T210P	T	-	1	0	C18orf10	32632439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.371000	0.80710	0.533000	0.62120	ACC	TPGS2	-	NULL	ENSG00000134779		0.493	TPGS2-001	KNOWN	basic|CCDS	protein_coding	TPGS2	HGNC	protein_coding	OTTHUMT00000440410.2	225	0.88	2	T	NM_015476		34378441	34378441	-1	no_errors	ENST00000334295	ensembl	human	known	69_37n	missense	166	12.04	23	SNP	1.000	G
TPK1	27010	genome.wustl.edu	37	7	144150700	144150700	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:144150700A>C	ENST00000360057.3	-	9	772	c.670T>G	c.(670-672)Tct>Gct	p.S224A	TPK1_ENST00000378099.3_Missense_Mutation_p.S175A|RNU6ATAC40P_ENST00000408580.1_RNA|TPK1_ENST00000549981.1_3'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.S170A|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	224					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACAACACCAGACCCGTCGTAG	0.423																																					Ovarian(45;88 1034 2073 5829 28455)	dbGAP											0													180.0	159.0	166.0					7																	144150700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.670T>G	7.37:g.144150700A>C	ENSP00000353165:p.Ser224Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase	p.S224A	ENST00000360057.3	37	c.670	CCDS5888.1	7	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124427	0.56613	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099	T;T;T	0.75704	-0.96;-0.96;-0.96	5.79	5.79	0.91817	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.368409	0.31936	N	0.006840	T	0.74846	0.3770	L	0.48362	1.52	0.80722	D	1	P;B;D	0.53885	0.644;0.016;0.963	B;B;P	0.55615	0.307;0.073;0.78	T	0.71337	-0.4623	10	0.21014	T	0.42	-24.0473	9.3896	0.38365	0.8411:0.0:0.0:0.1589	.	175;224;170	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	A	224;170;175	ENSP00000353165:S224A;ENSP00000438813:S170A;ENSP00000367339:S175A	ENSP00000353165:S224A	S	-	1	0	TPK1	143781633	0.994000	0.37717	0.995000	0.50966	0.958000	0.62258	3.558000	0.53749	2.218000	0.71995	0.533000	0.62120	TCT	TPK1	-	pfam_Thiamin_PyroPKinase_B1-bd,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase	ENSG00000196511		0.423	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	HGNC	protein_coding	OTTHUMT00000327777.1	224	0.44	1	A	NM_022445		144150700	144150700	-1	no_errors	ENST00000360057	ensembl	human	known	69_37n	missense	118	14.39	20	SNP	0.994	C
TPM3	7170	genome.wustl.edu	37	1	154144709	154144709	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154144709A>C	ENST00000368530.2	-	5	759				TPM3_ENST00000368533.3_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000328159.4_Intron|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000341372.3_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					AGAGAACACCACCATGGTCAT	0.418			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0																																										-	-	-	SO:0001627	intron_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.566+674T>G	1.37:g.154144709A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	SNP	-	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			TPM3	-	-	ENSG00000143549		0.418	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	174	0.57	1	A	NM_152263		154144709	154144709	-1	no_errors	ENST00000469717	ensembl	human	known	69_37n	rna	309	10.06	35	SNP	0.966	C
TPMT	7172	genome.wustl.edu	37	6	18148104	18148104	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:18148104A>C	ENST00000309983.4	-	3	268	c.183T>G	c.(181-183)agT>agG	p.S61R		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	61					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	CCCTCAGTCCACTCTTGCCTT	0.348																																					Colon(190;1381 2791 16728 32493)	dbGAP											0													91.0	96.0	95.0					6																	18148104		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.183T>G	6.37:g.18148104A>C	ENSP00000312304:p.Ser61Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.S61R	ENST00000309983.4	37	c.183	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	A	4.575	0.106878	0.08780	.	.	ENSG00000137364	ENST00000309983	T	0.62788	-0.0	5.68	1.82	0.25136	.	0.607040	0.19277	N	0.118254	T	0.20455	0.0492	L	0.28608	0.87	0.27365	N	0.955844	B;B	0.21452	0.015;0.056	B;B	0.22152	0.019;0.038	T	0.24621	-1.0155	10	0.15499	T	0.54	-8.0906	5.4718	0.16674	0.515:0.0:0.0724:0.4126	.	61;61	Q9BS45;P51580	.;TPMT_HUMAN	R	61	ENSP00000312304:S61R	ENSP00000312304:S61R	S	-	3	2	TPMT	18256083	0.000000	0.05858	0.050000	0.19076	0.115000	0.19883	0.026000	0.13599	0.058000	0.16222	-1.157000	0.01802	AGT	TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	ENSG00000137364		0.348	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1	158	0.63	1	A			18148104	18148104	-1	no_errors	ENST00000309983	ensembl	human	known	69_37n	missense	133	10.74	16	SNP	0.800	C
TPTE	7179	genome.wustl.edu	37	21	11029685	11029685	+	5'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr21:11029685T>G	ENST00000415664.2	-	0	34				BAGE2_ENST00000470054.1_RNA			P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCACGAGGGTGGGCTCACTG	0.448																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-3302A>C	21.37:g.11029685T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	-	NULL	ENST00000415664.2	37	NULL		21																																																																																			TPTE	-	-	ENSG00000166157		0.448	TPTE-006	KNOWN	basic	processed_transcript	TPTE	HGNC	protein_coding	OTTHUMT00000340030.1	555	0.89	5	T			11029685	11029685	-1	no_errors	ENST00000415664	ensembl	human	known	69_37n	rna	449	12.65	65	SNP	1.000	G
TRAF3IP2	10758	genome.wustl.edu	37	6	111913188	111913188	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:111913188T>G	ENST00000340026.6	-	3	723	c.129A>C	c.(127-129)ccA>ccC	p.P43P	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000368761.5_Silent_p.P34P|TRAF3IP2_ENST00000359831.4_Silent_p.P34P			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	43	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TTGGAGCAGGTGGTTCTGATT	0.478																																						dbGAP											0													124.0	128.0	127.0					6																	111913188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.129A>C	6.37:g.111913188T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	pfam_SEFIR	p.P43	ENST00000340026.6	37	c.129		6																																																																																			TRAF3IP2	-	NULL	ENSG00000056972		0.478	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	121	0.00	0	T			111913188	111913188	-1	no_errors	ENST00000340026	ensembl	human	known	69_37n	silent	100	13.79	16	SNP	0.362	G
TRAF3IP3	80342	genome.wustl.edu	37	1	209954588	209954588	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:209954588T>G	ENST00000367024.1	+	16	1965				TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000467830.1_3'UTR|TRAF3IP3_ENST00000010338.4_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000367025.3_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGATGGTGGTAAAAATTCCA	0.433																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1450-102T>G	1.37:g.209954588T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	RNA	SNP	-	NULL	ENST00000367024.1	37	NULL	CCDS1490.2	1																																																																																			TRAF3IP3	-	-	ENSG00000009790		0.433	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	97	0.00	0	T			209954588	209954588	+1	no_errors	ENST00000467830	ensembl	human	known	69_37n	rna	97	21.60	27	SNP	0.009	G
TRAFD1	10906	genome.wustl.edu	37	12	112589751	112589751	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:112589751T>G	ENST00000257604.5	+	10	2043	c.1426T>G	c.(1426-1428)Tgc>Ggc	p.C476G	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Missense_Mutation_p.C476G	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	476					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CAGACCTGGGTGCCAGCCCAG	0.582																																						dbGAP											0													140.0	150.0	147.0					12																	112589751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1426T>G	12.37:g.112589751T>G	ENSP00000257604:p.Cys476Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.C476G	ENST00000257604.5	37	c.1426	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815318	0.32053	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.29397	1.57;1.57	6.16	3.84	0.44239	.	0.802575	0.11429	N	0.564973	T	0.32194	0.0821	M	0.68317	2.08	0.09310	N	0.999999	B	0.28933	0.228	B	0.21917	0.037	T	0.23511	-1.0186	10	0.66056	D	0.02	-1.8359	10.1146	0.42583	0.0:0.0:0.4149:0.5851	.	476	O14545	TRAD1_HUMAN	G	476	ENSP00000396526:C476G;ENSP00000257604:C476G	ENSP00000257604:C476G	C	+	1	0	TRAFD1	111074134	0.453000	0.25721	0.676000	0.29932	0.577000	0.36160	0.547000	0.23299	1.116000	0.41820	0.528000	0.53228	TGC	TRAFD1	-	NULL	ENSG00000135148		0.582	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	114	0.00	0	T	NM_006700		112589751	112589751	+1	no_errors	ENST00000257604	ensembl	human	known	69_37n	missense	148	13.45	23	SNP	0.152	G
TRAK2	66008	genome.wustl.edu	37	2	202265799	202265799	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:202265799A>C	ENST00000332624.3	-	4	733	c.305T>G	c.(304-306)gTg>gGg	p.V102G	TRAK2_ENST00000430254.1_Missense_Mutation_p.V102G	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	102	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATCTGCTCCACCCTGTCTGT	0.323																																						dbGAP											0													154.0	138.0	143.0					2																	202265799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.305T>G	2.37:g.202265799A>C	ENSP00000328875:p.Val102Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.V102G	ENST00000332624.3	37	c.305	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021009	0.75275	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.21191	2.02;2.02	5.62	5.62	0.85841	.	0.069581	0.64402	D	0.000013	T	0.40067	0.1102	M	0.79805	2.47	0.80722	D	1	P;D	0.58970	0.92;0.984	P;P	0.56960	0.598;0.81	T	0.39542	-0.9609	10	0.87932	D	0	.	8.4843	0.33063	0.7984:0.132:0.0696:0.0	.	102;102	E7EV21;O60296	.;TRAK2_HUMAN	G	102;8;102	ENSP00000328875:V102G;ENSP00000409333:V102G	ENSP00000328875:V102G	V	-	2	0	TRAK2	201974044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.582000	0.46085	2.277000	0.76020	0.528000	0.53228	GTG	TRAK2	-	pfam_HAP1_N	ENSG00000115993		0.323	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	184	0.00	0	A	NM_015049		202265799	202265799	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	105	15.87	20	SNP	1.000	C
TRAM1L1	133022	genome.wustl.edu	37	4	118005583	118005583	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:118005583A>C	ENST00000310754.4	-	1	1153	c.967T>G	c.(967-969)Tgg>Ggg	p.W323G		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	323	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCTTCTACCCACCTCTGAAGC	0.403																																						dbGAP											0													146.0	147.0	147.0					4																	118005583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.967T>G	4.37:g.118005583A>C	ENSP00000309402:p.Trp323Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.W323G	ENST00000310754.4	37	c.967	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607451	0.28623	.	.	ENSG00000174599	ENST00000310754	T	0.47869	0.83	3.59	3.59	0.41128	TRAM/LAG1/CLN8 homology domain (2);	0.058648	0.64402	N	0.000001	T	0.64940	0.2644	M	0.82517	2.595	0.58432	D	0.999995	D	0.71674	0.998	D	0.66196	0.942	T	0.67067	-0.5764	10	0.48119	T	0.1	-20.3459	8.8725	0.35325	1.0:0.0:0.0:0.0	.	323	Q8N609	TR1L1_HUMAN	G	323	ENSP00000309402:W323G	ENSP00000309402:W323G	W	-	1	0	TRAM1L1	118225031	0.983000	0.35010	0.933000	0.37362	0.106000	0.19336	3.429000	0.52800	1.859000	0.53934	0.528000	0.53228	TGG	TRAM1L1	-	smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.403	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	242	0.00	0	A	NM_152402		118005583	118005583	-1	no_errors	ENST00000310754	ensembl	human	known	69_37n	missense	164	13.68	26	SNP	0.998	C
TRANK1	9881	genome.wustl.edu	37	3	36872510	36872510	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:36872510A>C	ENST00000429976.2	-	21	8679	c.8432T>G	c.(8431-8433)gTg>gGg	p.V2811G	TRANK1_ENST00000301807.6_Missense_Mutation_p.V2261G|TRANK1_ENST00000428977.2_Missense_Mutation_p.V2261G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2811							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTCCTGCACCACCAGCTTGCC	0.532																																						dbGAP											0													262.0	257.0	258.0					3																	36872510		2111	4224	6335	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8432T>G	3.37:g.36872510A>C	ENSP00000416168:p.Val2811Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.V2811G	ENST00000429976.2	37	c.8432	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255667	0.59321	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.40225	1.04;1.45;1.04	4.96	4.96	0.65561	.	0.127670	0.34531	N	0.003896	T	0.52092	0.1713	L	0.32530	0.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.66196	0.942	T	0.55768	-0.8089	10	0.72032	D	0.01	.	15.0933	0.72215	1.0:0.0:0.0:0.0	.	2811	O15050	TRNK1_HUMAN	G	2261;2811;2261	ENSP00000416826:V2261G;ENSP00000416168:V2811G;ENSP00000301807:V2261G	ENSP00000301807:V2261G	V	-	2	0	TRANK1	36847514	0.991000	0.36638	1.000000	0.80357	0.564000	0.35744	6.145000	0.71769	2.221000	0.72209	0.454000	0.30748	GTG	TRANK1	-	NULL	ENSG00000168016		0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		435	0.68	3	A	NM_014831		36872510	36872510	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	265	12.79	39	SNP	0.998	C
TRANK1	9881	genome.wustl.edu	37	3	36898835	36898835	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:36898835A>C	ENST00000429976.2	-	12	2493	c.2246T>G	c.(2245-2247)gTg>gGg	p.V749G	TRANK1_ENST00000301807.6_Missense_Mutation_p.V199G|TRANK1_ENST00000428977.2_Missense_Mutation_p.V199G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	749							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCAAGGCCCACCTGAGCATG	0.587																																						dbGAP											0													142.0	139.0	140.0					3																	36898835		1988	4174	6162	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2246T>G	3.37:g.36898835A>C	ENSP00000416168:p.Val749Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.V749G	ENST00000429976.2	37	c.2246	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	A	6.509	0.462209	0.12342	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30182	1.54;1.97;1.54	5.75	-3.43	0.04810	.	0.556772	0.16057	N	0.231690	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23332	-1.0191	10	0.17369	T	0.5	.	1.6243	0.02719	0.2405:0.3069:0.2854:0.1671	.	749	O15050	TRNK1_HUMAN	G	199;749;199	ENSP00000416826:V199G;ENSP00000416168:V749G;ENSP00000301807:V199G	ENSP00000301807:V199G	V	-	2	0	TRANK1	36873839	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.004000	0.12878	-0.538000	0.06281	-0.908000	0.02827	GTG	TRANK1	-	NULL	ENSG00000168016		0.587	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		317	0.93	3	A	NM_014831		36898835	36898835	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	293	19.45	71	SNP	0.000	C
TRBC2	28638	genome.wustl.edu	37	7	142499639	142499639	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142499639A>C	ENST00000466254.1	+	0	399							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CTGTGGCTTCACCTCCGGTAA	0.498																																						dbGAP											0													483.0	465.0	470.0					7																	142499639		1981	4171	6152	-	-	-			0			M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499639A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.S133	ENST00000466254.1	37	c.399		7																																																																																			TRBC2	-	NULL	ENSG00000211772		0.498	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TRBC2	HGNC	TR_C_gene	OTTHUMT00000352524.2	626	0.95	6	A	NG_001333		142499639	142499639	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000466254	ensembl	human	known	69_37n	silent	572	14.69	99	SNP	0.947	C
TRDMT1	1787	genome.wustl.edu	37	10	17201166	17201166	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:17201166T>G	ENST00000377799.3	-	7	569	c.522A>C	c.(520-522)ttA>ttC	p.L174F	TRDMT1_ENST00000377766.5_Missense_Mutation_p.T103P|TRDMT1_ENST00000351358.4_Missense_Mutation_p.L128F|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.L93F|TRDMT1_ENST00000412821.3_Missense_Mutation_p.L150F|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000358282.7_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	174	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	CTTGAAAGGGTAATGGCTCTG	0.303																																						dbGAP											0													65.0	69.0	68.0					10																	17201166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.522A>C	10.37:g.17201166T>G	ENSP00000367030:p.Leu174Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase	p.L174F	ENST00000377799.3	37	c.522	CCDS7114.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	5.447|5.447|5.447	0.267668|0.267668|0.267668	0.10294|0.10294|0.10294	.|.|.	.|.|.	ENSG00000107614|ENSG00000107614|ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000525762|ENST00000377766;ENST00000313936|ENST00000436968	D;D;D;D;D|.|.	0.85171|.|.	-1.95;-1.95;-1.95;-1.95;-1.95|.|.	5.7|5.7|5.7	-9.86|-9.86|-9.86	0.00473|0.00473|0.00473	.|.|.	1.075030|.|.	0.07111|.|.	N|.|.	0.842188|.|.	T|T|T	0.06234|0.06234|0.06234	0.0161|0.0161|0.0161	N|N|N	0.01091|0.01091|0.01091	-1.02|-1.02|-1.02	0.18873|0.18873|0.18873	N|N|N	0.999989|0.999989|0.999989	B;B;B;B;B;B|.|.	0.09022|.|.	0.0;0.002;0.0;0.001;0.0;0.0|.|.	B;B;B;B;B;B|.|.	0.14023|.|.	0.004;0.01;0.001;0.002;0.001;0.001|.|.	T|T|T	0.21930|0.21930|0.21930	-1.0231|-1.0231|-1.0231	10|5|5	0.02654|.|.	T|.|.	1|.|.	1.3262|1.3262|1.3262	3.5741|3.5741|3.5741	0.07927|0.07927|0.07927	0.3339:0.13:0.4167:0.1194|0.3339:0.13:0.4167:0.1194|0.3339:0.13:0.4167:0.1194	.|.|.	103;93;174;128;150;174|.|.	B7Z1Y7;E7EMI8;Q6ICS7;O14717-3;O14717-2;O14717|.|.	.;.;.;.;.;TRDMT_HUMAN|.|.	F|P|S	174;150;128;93;132|103;108|82	ENSP00000367030:L174F;ENSP00000409354:L150F;ENSP00000324328:L128F;ENSP00000412256:L93F;ENSP00000431476:L132F|.|.	ENSP00000324328:L128F|.|.	L|T|Y	-|-|-	3|1|2	2|0|0	TRDMT1|TRDMT1|TRDMT1	17241172|17241172|17241172	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.003000|0.003000|0.003000	0.11579|0.11579|0.11579	0.333000|0.333000|0.333000	0.28666|0.28666|0.28666	-0.596000|-0.596000|-0.596000	0.05720|0.05720|0.05720	-1.674000|-1.674000|-1.674000	0.01461|0.01461|0.01461	-0.333000|-0.333000|-0.333000	0.08304|0.08304|0.08304	TTA|ACC|TAC	TRDMT1	-	pfam_C5_MeTfrase,tigrfam_C5_MeTfrase	ENSG00000107614		0.303	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRDMT1	HGNC	protein_coding	OTTHUMT00000047024.3	130	0.00	0	T	NM_004412		17201166	17201166	-1	no_errors	ENST00000377799	ensembl	human	known	69_37n	missense	73	17.98	16	SNP	0.006	G
TRERF1	55809	genome.wustl.edu	37	6	42196270	42196270	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:42196270A>C	ENST00000372922.4	-	18	3978	c.3416T>G	c.(3415-3417)gTg>gGg	p.V1139G	TRERF1_ENST00000340840.2_Missense_Mutation_p.V1068G|TRERF1_ENST00000354325.2_Missense_Mutation_p.V1056G|TRERF1_ENST00000372917.4_Missense_Mutation_p.V1068G|TRERF1_ENST00000541110.1_Missense_Mutation_p.V1159G	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1139	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGCGCCCCCACGGGCCCCGT	0.602																																						dbGAP											0													139.0	163.0	155.0					6																	42196270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3416T>G	6.37:g.42196270A>C	ENSP00000362013:p.Val1139Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.V1159G	ENST00000372922.4	37	c.3476	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596266	0.46318	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13089	2.71;2.62;2.75;2.62;2.62	5.69	-0.926	0.10455	.	0.408346	0.20366	N	0.093757	T	0.03434	0.0099	N	0.19112	0.55	0.22754	N	0.998779	B;B;B;B;P	0.34615	0.161;0.1;0.1;0.161;0.459	B;B;B;B;B	0.36464	0.073;0.033;0.033;0.073;0.225	T	0.29549	-1.0008	10	0.87932	D	0	-4.038	12.5651	0.56306	0.463:0.0:0.537:0.0	.	1056;1159;1139;895;907	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	G	1159;1068;1139;1068;1056	ENSP00000439689:V1159G;ENSP00000362008:V1068G;ENSP00000362013:V1139G;ENSP00000339438:V1068G;ENSP00000346285:V1056G	ENSP00000339438:V1068G	V	-	2	0	TRERF1	42304248	0.164000	0.22935	0.243000	0.24186	0.966000	0.64601	0.321000	0.19558	-0.374000	0.07967	0.460000	0.39030	GTG	TRERF1	-	NULL	ENSG00000124496		0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	222	0.89	2	A	NM_033502		42196270	42196270	-1	no_errors	ENST00000541110	ensembl	human	known	69_37n	missense	237	11.24	30	SNP	0.134	C
TRIB1	10221	genome.wustl.edu	37	8	126445560	126445560	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:126445560T>G	ENST00000311922.3	+	2	944	c.362T>G	c.(361-363)gTg>gGg	p.V121G	TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000519576.1_5'Flank	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1			tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCTCTACAGGTGTTTCCCATT	0.522																																						dbGAP											0													166.0	180.0	175.0					8																	126445560		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000311922.3:c.361-1T>G	8.37:g.126445560T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		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,pfscan_Prot_kinase_cat_dom	p.V121G	ENST00000311922.3	37	c.362	CCDS6357.1	8	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182275	0.78677	.	.	ENSG00000173334	ENST00000311922	T	0.75938	-0.98	5.03	3.85	0.44370	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.300709	0.17866	U	0.159373	D	0.88680	0.6502	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89040	0.3448	10	0.87932	D	0	-9.4261	11.3018	0.49311	0.1362:0.0:0.0:0.8638	.	121	Q96RU8	TRIB1_HUMAN	G	121	ENSP00000312150:V121G	ENSP00000312150:V121G	V	+	2	0	TRIB1	126514742	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.242000	0.72376	0.734000	0.32515	0.418000	0.28097	GTG	TRIB1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000173334		0.522	TRIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB1	HGNC	protein_coding	OTTHUMT00000381430.1	161	0.61	1	T	NM_025195	Missense_Mutation	126445560	126445560	+1	no_errors	ENST00000311922	ensembl	human	known	69_37n	missense	92	17.86	20	SNP	1.000	G
TRIB2	28951	genome.wustl.edu	37	2	12864848	12864848	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:12864848T>C	ENST00000405331.3	+	3	727	c.657T>C	c.(655-657)ccT>ccC	p.P219P	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Intron					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTCCACCCTCCCCCTACCA	0.468																																						dbGAP											0													515.0	479.0	490.0					2																	12864848		876	1991	2867	-	-	-	SO:0001819	synonymous_variant	0			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.657T>C	2.37:g.12864848T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.P219	ENST00000405331.3	37	c.657		2																																																																																			TRIB2	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000071575		0.468	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000323585.1	346	0.57	2	T	NM_021643		12864848	12864848	+1	no_errors	ENST00000405331	ensembl	human	putative	69_37n	silent	285	15.88	54	SNP	0.001	C
TRIM10	10107	genome.wustl.edu	37	6	30126399	30126399	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30126399A>C	ENST00000449742.2	-	3	608	c.533T>G	c.(532-534)gTg>gGg	p.V178G	TRIM10_ENST00000376704.3_Missense_Mutation_p.V178G	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	178					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CTTGGTGGACACCTGAGTCTG	0.532																																						dbGAP											0													159.0	171.0	167.0					6																	30126399		1511	2709	4220	-	-	-	SO:0001583	missense	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.533T>G	6.37:g.30126399A>C	ENSP00000397073:p.Val178Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V178G	ENST00000449742.2	37	c.533	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755200	0.69648	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	D;D	0.82526	-1.62;-1.62	5.68	4.53	0.55603	.	0.000000	0.48767	D	0.000175	D	0.88340	0.6410	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.89507	0.3768	10	0.87932	D	0	.	7.5888	0.28008	0.907:0.0:0.093:0.0	.	178;178	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	G	178	ENSP00000397073:V178G;ENSP00000365894:V178G	ENSP00000365894:V178G	V	-	2	0	TRIM10	30234378	0.934000	0.31675	1.000000	0.80357	0.991000	0.79684	0.778000	0.26732	2.163000	0.67991	0.523000	0.50628	GTG	TRIM10	-	NULL	ENSG00000204613		0.532	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	385	0.26	1	A			30126399	30126399	-1	no_errors	ENST00000449742	ensembl	human	known	69_37n	missense	301	17.03	62	SNP	1.000	C
TRIM21	6737	genome.wustl.edu	37	11	4411502	4411502	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:4411502A>C	ENST00000254436.7	-	2	250	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TRIM21_ENST00000543625.1_Silent_p.G46G	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	46					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CGCTGCCCCCACCTTTCCCAA	0.562																																						dbGAP											0													88.0	93.0	91.0					11																	4411502		2141	4256	6397	-	-	-	SO:0001819	synonymous_variant	0			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.138T>G	11.37:g.4411502A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XPV5|Q96RF8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.G46	ENST00000254436.7	37	c.138	CCDS44525.1	11																																																																																			TRIM21	-	pfam_Znf_C3HC4_RING-type,smart_Ubox_domain,smart_Znf_RING,pfscan_Znf_RING	ENSG00000132109		0.562	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	143	0.69	1	A	NM_003141		4411502	4411502	-1	no_errors	ENST00000254436	ensembl	human	known	69_37n	silent	141	18.64	33	SNP	0.000	C
TRIM25	7706	genome.wustl.edu	37	17	54981830	54981830	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:54981830A>C	ENST00000316881.4	-	3	762	c.713T>G	c.(712-714)gTg>gGg	p.V238G	TRIM25_ENST00000537230.1_Missense_Mutation_p.V238G	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	238	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TAGCTGCTCCACCTTTCTGTT	0.522																																						dbGAP											0													137.0	125.0	129.0					17																	54981830		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.713T>G	17.37:g.54981830A>C	ENSP00000323889:p.Val238Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.V238G	ENST00000316881.4	37	c.713	CCDS11591.1	17	.	.	.	.	.	.	.	.	.	.	A	8.019	0.759272	0.15846	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.39229	1.09;1.09	5.76	4.68	0.58851	.	1.372470	0.04171	N	0.324729	T	0.37348	0.1000	L	0.49778	1.585	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.26710	-1.0095	10	0.26408	T	0.33	.	3.1548	0.06500	0.5908:0.1194:0.0677:0.2221	.	238	Q14258	TRI25_HUMAN	G	238	ENSP00000323889:V238G;ENSP00000445961:V238G	ENSP00000323889:V238G	V	-	2	0	TRIM25	52336829	0.000000	0.05858	0.004000	0.12327	0.082000	0.17680	0.064000	0.14437	1.107000	0.41642	0.533000	0.62120	GTG	TRIM25	-	NULL	ENSG00000121060		0.522	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	189	0.00	0	A	NM_005082		54981830	54981830	-1	no_errors	ENST00000316881	ensembl	human	known	69_37n	missense	244	18.57	57	SNP	0.006	C
TRIM27	5987	genome.wustl.edu	37	6	28872023	28872023	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:28872023A>C	ENST00000377199.3	-	8	1722	c.1366T>G	c.(1366-1368)Tgt>Ggt	p.C456G	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	456	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AAGGTGTGACACCTCTCTGTC	0.552			T	RET	papillary thyroid																																	dbGAP		Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													133.0	144.0	140.0					6																	28872023		1511	2709	4220	-	-	-	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1366T>G	6.37:g.28872023A>C	ENSP00000366404:p.Cys456Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.C456G	ENST00000377199.3	37	c.1366	CCDS4654.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.54|14.54	2.565497|2.565497	0.45694|0.45694	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000377199|ENST00000414543	T|.	0.68479|.	-0.33|.	4.79|4.79	3.52|3.52	0.40303|0.40303	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.23014|0.23014	0.0556|0.0556	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	P|.	0.42337|.	0.776|.	B|.	0.41271|.	0.352|.	T|T	0.09357|0.09357	-1.0678|-1.0678	10|5	0.16420|.	T|.	0.52|.	.|.	4.4665|4.4665	0.11691|0.11691	0.6979:0.2008:0.1013:0.0|0.6979:0.2008:0.1013:0.0	.|.	456|.	P14373|.	TRI27_HUMAN|.	G|G	456|190	ENSP00000366404:C456G|.	ENSP00000366404:C456G|.	C|V	-|-	1|2	0|0	TRIM27|TRIM27	28980002|28980002	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.193000|-0.193000	0.09573|0.09573	2.089000|2.089000	0.63090|0.63090	0.533000|0.533000	0.62120|0.62120	TGT|GTG	TRIM27	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000204713		0.552	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	199	0.00	0	A	NM_030950		28872023	28872023	-1	no_errors	ENST00000377199	ensembl	human	known	69_37n	missense	182	15.28	33	SNP	0.998	C
TRIM6	117854	genome.wustl.edu	37	11	5626721	5626721	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:5626721A>C	ENST00000278302.5	+	4	814	c.674A>C	c.(673-675)cAc>cCc	p.H225P	AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Missense_Mutation_p.H50P|TRIM6_ENST00000380107.1_Missense_Mutation_p.H199P|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.H253P|TRIM6_ENST00000507320.1_Missense_Mutation_p.H50P|TRIM6_ENST00000445329.1_Missense_Mutation_p.H50P|TRIM6_ENST00000380097.3_Missense_Mutation_p.H253P|TRIM6_ENST00000506134.1_Missense_Mutation_p.H50P|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	225					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GATCTGGTCCACCAGACCCAG	0.527											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													80.0	77.0	78.0					11																	5626721		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.674A>C	11.37:g.5626721A>C	ENSP00000278302:p.His225Pro	Somatic	627	WXS	Illumina GAIIx	Phase_IV	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.H253P	ENST00000278302.5	37	c.758	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	A	7.307	0.614274	0.14129	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58	4.85	0.972	0.19704	.	.	.	.	.	T	0.04861	0.0131	L	0.50333	1.59	0.09310	N	1	B;B;B;P;B	0.34757	0.167;0.035;0.004;0.467;0.167	B;B;B;B;B	0.34138	0.053;0.044;0.004;0.176;0.053	T	0.39251	-0.9623	9	0.72032	D	0.01	.	1.8166	0.03102	0.5685:0.1718:0.0942:0.1655	.	50;199;253;253;225	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	P	225;50;50;199;253;50;132;50;50;253;253	ENSP00000278302:H225P;ENSP00000414108:H50P;ENSP00000427704:H50P;ENSP00000369450:H199P;ENSP00000369440:H253P;ENSP00000399215:H50P;ENSP00000421802:H50P;ENSP00000421079:H50P;ENSP00000346916:H253P	ENSP00000278302:H225P	H	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5583297	0.002000	0.14202	0.024000	0.17045	0.154000	0.21943	0.951000	0.29135	0.049000	0.15920	0.533000	0.62120	CAC	TRIM34	-	NULL	ENSG00000258659		0.527	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	138	0.72	1	A	NM_001003818		5626721	5626721	+1	no_errors	ENST00000337072	ensembl	human	known	69_37n	missense	216	11.11	27	SNP	0.033	C
TRIM39	56658	genome.wustl.edu	37	6	30297549	30297549	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:30297549T>G	ENST00000396547.1	+	2	613		c.e2+2		TRIM39_ENST00000376656.4_Splice_Site|HCG18_ENST00000413358.2_RNA|HCG18_ENST00000426882.1_RNA|TRIM39-RPP21_ENST00000513556.1_Splice_Site|TRIM39_ENST00000396548.1_Splice_Site|TRIM39_ENST00000376659.5_Splice_Site|TRIM39_ENST00000396551.3_Splice_Site|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000540416.1_Splice_Site			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39						apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GAGTACAAGGTGGGGAAGCAG	0.522																																						dbGAP											0													49.0	53.0	51.0					6																	30297549		1508	2707	4215	-	-	-	SO:0001630	splice_region_variant	0			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.453+2T>G	6.37:g.30297549T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Splice_Site	SNP	-	e1+2	ENST00000396547.1	37	c.453+2	CCDS34377.1	6	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707126	0.48412	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000420746;ENST00000513556	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5933	0.56454	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM39-RPP21;TRIM39	30405528	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.990000	0.56965	2.137000	0.66172	0.454000	0.30748	.	TRIM39	-	-	ENSG00000204599		0.522	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	63	0.00	0	T	NM_172016	Intron	30297549	30297549	+1	no_errors	ENST00000376656	ensembl	human	known	69_37n	splice_site	43	18.87	10	SNP	1.000	G
TRIM4	89122	genome.wustl.edu	37	7	99489881	99489881	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99489881T>G	ENST00000355947.2	-	7	1537	c.1408A>C	c.(1408-1410)Acc>Ccc	p.T470P	TRIM4_ENST00000349062.2_Missense_Mutation_p.T444P	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	470	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAAGAAAAGGTGTGCAGGTGC	0.522																																						dbGAP											0													126.0	121.0	123.0					7																	99489881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1408A>C	7.37:g.99489881T>G	ENSP00000348216:p.Thr470Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T470P	ENST00000355947.2	37	c.1408	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527358	0.27299	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.66099	-0.19;-0.19	2.64	1.41	0.22369	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.79707	0.4492	M	0.93898	3.47	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69824	0.943;0.966	T	0.77699	-0.2490	9	0.66056	D	0.02	.	6.2853	0.21029	0.2225:0.0:0.0:0.7775	.	444;470	Q9C037-2;Q9C037	.;TRIM4_HUMAN	P	470;444;300	ENSP00000348216:T470P;ENSP00000275736:T444P	ENSP00000275736:T444P	T	-	1	0	TRIM4	99327817	1.000000	0.71417	0.056000	0.19401	0.186000	0.23388	2.144000	0.42197	0.405000	0.25532	0.533000	0.62120	ACC	TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146833		0.522	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	579	0.68	4	T	NM_033017		99489881	99489881	-1	no_errors	ENST00000355947	ensembl	human	known	69_37n	missense	459	11.15	58	SNP	0.958	G
TRIM4	89122	genome.wustl.edu	37	7	99489980	99489980	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99489980T>G	ENST00000355947.2	-	7	1438	c.1309A>C	c.(1309-1311)Acc>Ccc	p.T437P	TRIM4_ENST00000349062.2_Missense_Mutation_p.T411P	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	437	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TCTTGCTGGGTGGGAGTTCCA	0.552																																						dbGAP											0													136.0	138.0	137.0					7																	99489980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1309A>C	7.37:g.99489980T>G	ENSP00000348216:p.Thr437Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T437P	ENST00000355947.2	37	c.1309	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	T	7.134	0.580410	0.13686	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.60920	0.15;0.15	2.42	-1.74	0.08056	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.38348	0.1037	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32877	-0.9890	9	0.72032	D	0.01	.	1.2604	0.02000	0.1822:0.1526:0.4223:0.2429	.	411;437	Q9C037-2;Q9C037	.;TRIM4_HUMAN	P	437;411;267	ENSP00000348216:T437P;ENSP00000275736:T411P	ENSP00000275736:T411P	T	-	1	0	TRIM4	99327916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.026000	0.12392	-0.376000	0.07943	-0.331000	0.08364	ACC	TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146833		0.552	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	701	0.98	7	T	NM_033017		99489980	99489980	-1	no_errors	ENST00000355947	ensembl	human	known	69_37n	missense	614	11.22	78	SNP	0.000	G
TRIM4	89122	genome.wustl.edu	37	7	99490102	99490102	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99490102A>C	ENST00000355947.2	-	7	1316	c.1187T>G	c.(1186-1188)gTg>gGg	p.V396G	TRIM4_ENST00000349062.2_Missense_Mutation_p.V370G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	396	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTCCCGACACACCCCAACAGC	0.488																																						dbGAP											0													162.0	164.0	163.0					7																	99490102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1187T>G	7.37:g.99490102A>C	ENSP00000348216:p.Val396Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V396G	ENST00000355947.2	37	c.1187	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549697	0.45383	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.74632	-0.86;-0.86	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.86879	0.6039	H	0.94542	3.55	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62740	0.848;0.906	D	0.88314	0.2958	9	0.87932	D	0	.	9.1062	0.36698	1.0:0.0:0.0:0.0	.	370;396	Q9C037-2;Q9C037	.;TRIM4_HUMAN	G	396;370;226	ENSP00000348216:V396G;ENSP00000275736:V370G	ENSP00000275736:V370G	V	-	2	0	TRIM4	99328038	0.984000	0.35163	0.664000	0.29753	0.408000	0.30992	5.503000	0.66962	1.474000	0.48178	0.533000	0.62120	GTG	TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146833		0.488	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	847	0.35	3	A	NM_033017		99490102	99490102	-1	no_errors	ENST00000355947	ensembl	human	known	69_37n	missense	694	16.18	134	SNP	0.997	C
TRIM4	89122	genome.wustl.edu	37	7	99506245	99506245	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99506245A>C	ENST00000355947.2	-	4	887	c.758T>G	c.(757-759)gTg>gGg	p.V253G	TRIM4_ENST00000354241.5_Missense_Mutation_p.V227G|TRIM4_ENST00000349062.2_Missense_Mutation_p.V227G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	253					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTCCCCCACCTCTAAGAT	0.453																																						dbGAP											0													154.0	138.0	143.0					7																	99506245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.758T>G	7.37:g.99506245A>C	ENSP00000348216:p.Val253Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V253G	ENST00000355947.2	37	c.758	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514720	0.44763	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	T;T;T	0.05199	3.48;3.48;3.48	2.79	2.79	0.32731	.	.	.	.	.	T	0.12433	0.0302	L	0.58101	1.795	0.09310	N	1	P;D;D	0.61697	0.713;0.99;0.984	P;P;P	0.52343	0.513;0.696;0.597	T	0.10154	-1.0642	9	0.87932	D	0	.	7.4385	0.27169	1.0:0.0:0.0:0.0	.	227;227;253	Q9C037-3;Q9C037-2;Q9C037	.;.;TRIM4_HUMAN	G	253;227;83;227	ENSP00000348216:V253G;ENSP00000275736:V227G;ENSP00000346186:V227G	ENSP00000275736:V227G	V	-	2	0	TRIM4	99344181	0.046000	0.20272	0.001000	0.08648	0.001000	0.01503	3.118000	0.50414	1.544000	0.49359	0.528000	0.53228	GTG	TRIM4	-	NULL	ENSG00000146833		0.453	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	316	0.00	0	A	NM_033017		99506245	99506245	-1	no_errors	ENST00000355947	ensembl	human	known	69_37n	missense	456	11.56	60	SNP	0.001	C
TRIM44	54765	genome.wustl.edu	37	11	35706850	35706850	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:35706850T>G	ENST00000299413.5	+	2	1020	c.713T>G	c.(712-714)gTg>gGg	p.V238G		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	238						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				ATCGAATTGGTGGAAAGGTTG	0.428																																						dbGAP											0													158.0	151.0	153.0					11																	35706850		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.713T>G	11.37:g.35706850T>G	ENSP00000299413:p.Val238Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.V238G	ENST00000299413.5	37	c.713	CCDS31461.1	11	.	.	.	.	.	.	.	.	.	.	T	14.38	2.517127	0.44763	.	.	ENSG00000166326	ENST00000299413	T	0.32272	1.46	5.56	5.56	0.83823	.	0.000000	0.34338	N	0.004054	T	0.40815	0.1132	L	0.27053	0.805	0.58432	D	0.999995	D	0.71674	0.998	D	0.77557	0.99	T	0.35025	-0.9805	10	0.87932	D	0	-31.4302	11.0381	0.47814	0.138:0.0:0.0:0.862	.	238	Q96DX7	TRI44_HUMAN	G	238	ENSP00000299413:V238G	ENSP00000299413:V238G	V	+	2	0	TRIM44	35663426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.538000	0.53597	2.239000	0.73571	0.528000	0.53228	GTG	TRIM44	-	NULL	ENSG00000166326		0.428	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM44	HGNC	protein_coding	OTTHUMT00000389081.1	145	0.00	0	T	NM_017583		35706850	35706850	+1	no_errors	ENST00000299413	ensembl	human	known	69_37n	missense	150	11.24	19	SNP	1.000	G
TRIM46	80128	genome.wustl.edu	37	1	155152140	155152140	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:155152140A>C	ENST00000334634.4	+	8	1318	c.1318A>C	c.(1318-1320)Acc>Ccc	p.T440P	TRIM46_ENST00000368382.1_Missense_Mutation_p.T417P|TRIM46_ENST00000368385.4_Missense_Mutation_p.T440P|TRIM46_ENST00000545012.1_Missense_Mutation_p.T314P|TRIM46_ENST00000368383.3_Missense_Mutation_p.T440P|TRIM46_ENST00000392451.2_Silent_p.A452A|TRIM46_ENST00000543729.1_Silent_p.A459A|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	440	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCCAGCGCACCTTTGCCTA	0.642																																						dbGAP											0													55.0	57.0	57.0					1																	155152140		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1318A>C	1.37:g.155152140A>C	ENSP00000334657:p.Thr440Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.T440P	ENST00000334634.4	37	c.1318	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731781	0.69189	.	.	ENSG00000163462	ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.88	3.88	0.44766	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.143965	0.44483	D	0.000450	T	0.44685	0.1305	L	0.47716	1.5	0.48632	D	0.999685	D;D;P;D	0.71674	0.964;0.998;0.935;0.99	P;D;P;P	0.73708	0.737;0.981;0.737;0.801	T	0.47471	-0.9115	10	0.66056	D	0.02	.	11.0023	0.47614	1.0:0.0:0.0:0.0	.	440;417;440;440	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	P	398;440;314;440;417;440	ENSP00000357369:T440P;ENSP00000440254:T314P;ENSP00000357367:T440P;ENSP00000357366:T417P;ENSP00000334657:T440P	ENSP00000334657:T440P	T	+	1	0	TRIM46	153418764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.734000	0.62043	1.778000	0.52293	0.459000	0.35465	ACC	TRIM46	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163462		0.642	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	26	0.00	0	A	NM_025058		155152140	155152140	+1	no_errors	ENST00000334634	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	1.000	C
TRIM52	84851	genome.wustl.edu	37	5	180687096	180687096	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:180687096A>C	ENST00000327767.4	-	1	1023	c.719T>G	c.(718-720)gTg>gGg	p.V240G	CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000506340.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	240					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CTCTTTGTCCACCTCACAGAA	0.537																																						dbGAP											0													129.0	125.0	126.0					5																	180687096		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.719T>G	5.37:g.180687096A>C	ENSP00000332152:p.Val240Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V240G	ENST00000327767.4	37	c.719	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	a	15.29	2.790455	0.50102	.	.	ENSG00000183718	ENST00000327767	T	0.42513	0.97	3.29	2.11	0.27256	Zinc finger, B-box (3);	.	.	.	.	T	0.52741	0.1753	L	0.56199	1.76	0.50467	D	0.999876	D	0.76494	0.999	D	0.77004	0.989	T	0.47394	-0.9121	9	0.51188	T	0.08	.	6.716	0.23304	0.8746:0.0:0.1254:0.0	.	240	Q96A61	TRI52_HUMAN	G	240	ENSP00000332152:V240G	ENSP00000332152:V240G	V	-	2	0	TRIM52	180619702	0.707000	0.27866	0.766000	0.31476	0.906000	0.53458	0.031000	0.13710	0.451000	0.26802	0.418000	0.28097	GTG	TRIM52	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000183718		0.537	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	218	0.00	0	A	NM_032765		180687096	180687096	-1	no_errors	ENST00000327767	ensembl	human	known	69_37n	missense	171	14.50	29	SNP	1.000	C
TRIM52	84851	genome.wustl.edu	37	5	180687271	180687271	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:180687271T>G	ENST00000327767.4	-	1	848	c.544A>C	c.(544-546)Acc>Ccc	p.T182P	CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000417281.2_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	182					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TGGGGGCAGGTGAACTGCCCT	0.552																																						dbGAP											0													122.0	106.0	111.0					5																	180687271		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.544A>C	5.37:g.180687271T>G	ENSP00000332152:p.Thr182Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.T182P	ENST00000327767.4	37	c.544	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	t	12.73	2.024494	0.35701	.	.	ENSG00000183718	ENST00000327767	T	0.20463	2.07	3.5	3.5	0.40072	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	.	.	.	.	T	0.32255	0.0823	L	0.31926	0.97	0.28146	N	0.929599	D	0.76494	0.999	D	0.77557	0.99	T	0.06006	-1.0851	8	.	.	.	.	10.6011	0.45367	0.0:0.0:0.0:1.0	.	182	Q96A61	TRI52_HUMAN	P	182	ENSP00000332152:T182P	.	T	-	1	0	TRIM52	180619877	1.000000	0.71417	0.980000	0.43619	0.524000	0.34500	0.935000	0.28924	1.564000	0.49628	0.418000	0.28097	ACC	TRIM52	-	smart_Znf_RING	ENSG00000183718		0.552	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	138	0.00	0	T	NM_032765		180687271	180687271	-1	no_errors	ENST00000327767	ensembl	human	known	69_37n	missense	120	14.29	20	SNP	1.000	G
TRIM58	25893	genome.wustl.edu	37	1	248039402	248039402	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:248039402T>G	ENST00000366481.3	+	6	1120	c.1072T>G	c.(1072-1074)Tgg>Ggg	p.W358G	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	358	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGAGCAGAGTGGGGTTTAGG	0.562																																						dbGAP											0													110.0	101.0	104.0					1																	248039402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1072T>G	1.37:g.248039402T>G	ENSP00000355437:p.Trp358Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.W358G	ENST00000366481.3	37	c.1072	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.830711	0.32329	.	.	ENSG00000162722	ENST00000366481	T	0.67698	-0.28	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000056	D	0.85146	0.5630	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88499	0.3081	10	0.87932	D	0	.	11.636	0.51204	0.0:0.0:0.0:1.0	.	358	Q8NG06	TRI58_HUMAN	G	358	ENSP00000355437:W358G	ENSP00000355437:W358G	W	+	1	0	TRIM58	246106025	1.000000	0.71417	0.921000	0.36526	0.043000	0.13939	5.401000	0.66326	2.071000	0.62044	0.528000	0.53228	TGG	TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.562	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	287	0.35	1	T	NM_015431		248039402	248039402	+1	no_errors	ENST00000366481	ensembl	human	known	69_37n	missense	521	15.10	93	SNP	0.981	G
TRIM69	140691	genome.wustl.edu	37	15	45047165	45047165	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:45047165A>C	ENST00000559390.1	+	3	1002	c.74A>C	c.(73-75)cAc>cCc	p.H25P	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.H25P|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	25	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCAATCACCCACCTACCCTCT	0.448																																					Pancreas(84;519 1450 1802 20427 34706)	dbGAP											0													135.0	122.0	126.0					15																	45047165		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.74A>C	15.37:g.45047165A>C	ENSP00000453177:p.His25Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.H25P	ENST00000559390.1	37	c.74	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	A	9.677	1.148269	0.21288	.	.	ENSG00000185880	ENST00000329464	T	0.37584	1.19	4.2	0.247	0.15521	.	1.325200	0.05069	N	0.481266	T	0.22666	0.0547	N	0.24115	0.695	0.09310	N	1	B	0.24675	0.109	B	0.19666	0.026	T	0.24297	-1.0164	10	0.44086	T	0.13	.	2.9442	0.05840	0.5015:0.0:0.1099:0.3886	.	25	Q86WT6	TRI69_HUMAN	P	25	ENSP00000332284:H25P	ENSP00000332284:H25P	H	+	2	0	TRIM69	42834457	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.262000	0.18460	0.258000	0.21686	0.460000	0.39030	CAC	TRIM69	-	NULL	ENSG00000185880		0.448	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	194	0.00	0	A			45047165	45047165	+1	no_errors	ENST00000329464	ensembl	human	known	69_37n	missense	171	16.99	35	SNP	0.000	C
TRIM69	140691	genome.wustl.edu	37	15	45059866	45059866	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:45059866A>C	ENST00000559390.1	+	8	2327	c.1399A>C	c.(1399-1401)Acc>Ccc	p.T467P	TRIM69_ENST00000561043.1_Missense_Mutation_p.T230P|TRIM69_ENST00000558173.1_Missense_Mutation_p.T263P|TRIM69_ENST00000338264.4_Missense_Mutation_p.T308P|TRIM69_ENST00000560442.1_Missense_Mutation_p.T263P|TRIM69_ENST00000329464.4_Missense_Mutation_p.T467P|TRIM69_ENST00000558329.1_Missense_Mutation_p.T246P			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	467	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCACATTTACACCTTCAGTAA	0.423																																					Pancreas(84;519 1450 1802 20427 34706)	dbGAP											0													97.0	91.0	93.0					15																	45059866		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1399A>C	15.37:g.45059866A>C	ENSP00000453177:p.Thr467Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.T467P	ENST00000559390.1	37	c.1399	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245395	0.59103	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.66099	-0.19;-0.19	5.41	3.04	0.35103	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000003	D	0.83427	0.5252	H	0.97707	4.06	0.39751	D	0.971895	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.82995	-0.0180	10	0.87932	D	0	.	6.8051	0.23772	0.7662:0.1527:0.0811:0.0	.	246;308;467	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	P	467;308	ENSP00000332284:T467P;ENSP00000342922:T308P	ENSP00000332284:T467P	T	+	1	0	TRIM69	42847158	1.000000	0.71417	0.948000	0.38648	0.917000	0.54804	3.940000	0.56599	0.418000	0.25898	0.533000	0.62120	ACC	TRIM69	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000185880		0.423	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	274	0.72	2	A			45059866	45059866	+1	no_errors	ENST00000329464	ensembl	human	known	69_37n	missense	266	14.15	44	SNP	1.000	C
TRIO	7204	genome.wustl.edu	37	5	14504677	14504677	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:14504677A>C	ENST00000344204.4	+	55	8611	c.8587A>C	c.(8587-8589)Acc>Ccc	p.T2863P	TRIO_ENST00000344135.5_Missense_Mutation_p.T362P|TRIO_ENST00000537187.1_Missense_Mutation_p.T2687P	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGAGACCCCCACCAGCTACAT	0.582																																						dbGAP											0													150.0	152.0	151.0					5																	14504677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8587A>C	5.37:g.14504677A>C	ENSP00000339299:p.Thr2863Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T2863P	ENST00000344204.4	37	c.8587	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986883	0.74589	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.39592	1.07;1.07;1.07	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.105387	0.64402	D	0.000004	T	0.55273	0.1910	L	0.55103	1.725	0.24058	N	0.996024	D	0.61697	0.99	D	0.66979	0.948	T	0.51148	-0.8742	10	0.45353	T	0.12	.	10.1873	0.43006	0.9258:0.0:0.0742:0.0	.	2863	O75962	TRIO_HUMAN	P	2863;2687;362	ENSP00000339299:T2863P;ENSP00000446348:T2687P;ENSP00000339291:T362P	ENSP00000339291:T362P	T	+	1	0	TRIO	14557677	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.966000	0.40481	2.127000	0.65507	0.533000	0.62120	ACC	TRIO	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000038382		0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	168	0.00	0	A	NM_007118		14504677	14504677	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	missense	82	30.51	36	SNP	1.000	C
TRIM7	81786	genome.wustl.edu	37	5	180627053	180627053	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:180627053A>C	ENST00000274773.7	-	3	708	c.647T>G	c.(646-648)gTg>gGg	p.V216G	CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'Flank|TRIM7_ENST00000393315.1_Missense_Mutation_p.V8G|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.V8G|TRIM7_ENST00000361809.3_Missense_Mutation_p.V8G|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.V34G	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	216						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTCTGCCCCCACCTTCTCCTG	0.597																																					Esophageal Squamous(128;2258 2308 35507 48647)	dbGAP											0													69.0	68.0	68.0					5																	180627053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.647T>G	5.37:g.180627053A>C	ENSP00000274773:p.Val216Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,prints_Znf_B-box_chordata,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.V216G	ENST00000274773.7	37	c.647	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305306	0.60305	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.63417	3.32;-0.04;-0.04;3.32;-0.04	5.24	4.07	0.47477	.	0.256807	0.27340	N	0.019802	T	0.63105	0.2483	M	0.79258	2.445	0.54753	D	0.999985	P;P	0.37500	0.597;0.51	B;B	0.39258	0.186;0.295	T	0.64952	-0.6286	10	0.87932	D	0	.	9.2786	0.37714	0.9135:0.0:0.0865:0.0	.	216;34	Q9C029;Q9C029-4	TRIM7_HUMAN;.	G	216;8;8;34;8	ENSP00000274773:V216G;ENSP00000376991:V8G;ENSP00000355059:V8G;ENSP00000376994:V34G;ENSP00000391458:V8G	ENSP00000274773:V216G	V	-	2	0	TRIM7	180559659	0.723000	0.28027	0.885000	0.34714	0.993000	0.82548	4.848000	0.62874	0.822000	0.34565	0.379000	0.24179	GTG	TRIM7	-	NULL	ENSG00000146054		0.597	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	77	0.00	0	A	NM_203296		180627053	180627053	-1	no_errors	ENST00000274773	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	0.984	C
TRIOBP	11078	genome.wustl.edu	37	22	38121492	38121492	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:38121492A>C	ENST00000406386.3	+	7	3184	c.2929A>C	c.(2929-2931)Acc>Ccc	p.T977P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	977					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCCCGGGCCACCTCTTCCTC	0.642																																						dbGAP											0													127.0	148.0	141.0					22																	38121492		2059	4182	6241	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2929A>C	22.37:g.38121492A>C	ENSP00000384312:p.Thr977Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T977P	ENST00000406386.3	37	c.2929	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	A	9.139	1.013402	0.19277	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	5.24	-5.18	0.02840	.	.	.	.	.	T	0.13286	0.0322	L	0.46157	1.445	0.09310	N	0.999997	P	0.44578	0.838	B	0.38562	0.276	T	0.11494	-1.0585	9	0.33141	T	0.24	.	4.8463	0.13516	0.2215:0.0:0.3405:0.438	.	977	Q9H2D6	TARA_HUMAN	P	977	ENSP00000384312:T977P	ENSP00000384312:T977P	T	+	1	0	TRIOBP	36451438	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.029000	0.12329	-0.926000	0.03770	-0.379000	0.06801	ACC	TRIOBP	-	NULL	ENSG00000100106		0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	117	0.84	1	A			38121492	38121492	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	0.000	C
TRIT1	54802	genome.wustl.edu	37	1	40307387	40307387	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:40307387A>C	ENST00000316891.5	-	0	1447				TRIT1_ENST00000545233.1_3'UTR|TRIT1_ENST00000537440.1_3'UTR|TRIT1_ENST00000537223.1_3'UTR|TRIT1_ENST00000541099.1_3'UTR|TRIT1_ENST00000441669.2_3'UTR|TRIT1_ENST00000372818.1_3'UTR|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATCCCCACCACCTTTCCAAA	0.502																																						dbGAP											0													249.0	244.0	245.0					1																	40307387		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.*29T>G	1.37:g.40307387A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	RNA	SNP	-	NULL	ENST00000316891.5	37	NULL	CCDS30681.1	1																																																																																			TRIT1	-	-	ENSG00000043514		0.502	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	275	0.36	1	A	NM_017646		40307387	40307387	-1	no_errors	ENST00000462797	ensembl	human	known	69_37n	rna	257	11.34	33	SNP	0.000	C
TROAP	10024	genome.wustl.edu	37	12	49722997	49722997	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:49722997A>C	ENST00000257909.3	+	10	1150	c.1074A>C	c.(1072-1074)acA>acC	p.T358T	TROAP_ENST00000551245.1_Silent_p.T358T|TROAP_ENST00000547923.1_Silent_p.T66T	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	358					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCGGTTCACACCCATGCCAT	0.547																																						dbGAP											0													198.0	189.0	192.0					12																	49722997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1074A>C	12.37:g.49722997A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	NULL	p.T358	ENST00000257909.3	37	c.1074	CCDS8784.1	12																																																																																			TROAP	-	NULL	ENSG00000135451		0.547	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	303	0.33	1	A	NM_005480		49722997	49722997	+1	no_errors	ENST00000257909	ensembl	human	known	69_37n	silent	280	11.29	36	SNP	0.194	C
TROAP	10024	genome.wustl.edu	37	12	49724097	49724097	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:49724097A>C	ENST00000257909.3	+	13	1545	c.1469A>C	c.(1468-1470)cAc>cCc	p.H490P	TROAP_ENST00000551245.1_Missense_Mutation_p.H490P|TROAP_ENST00000547923.1_Missense_Mutation_p.H198P	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	490					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGGACTTCCCACCTTCCTGGA	0.557																																						dbGAP											0													116.0	126.0	122.0					12																	49724097		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1469A>C	12.37:g.49724097A>C	ENSP00000257909:p.His490Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.H490P	ENST00000257909.3	37	c.1469	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229471	0.58777	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	4.33	-2.45	0.06481	.	0.724871	0.12695	N	0.446853	T	0.25005	0.0607	L	0.29908	0.895	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.002	B;B;B	0.10450	0.005;0.005;0.002	T	0.16512	-1.0400	9	0.49607	T	0.09	0.0839	5.1966	0.15241	0.4354:0.1674:0.3972:0.0	.	490;198;490	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	P	490;490;198	.	ENSP00000257909:H490P	H	+	2	0	TROAP	48010364	0.000000	0.05858	0.009000	0.14445	0.544000	0.35116	0.105000	0.15333	-0.329000	0.08527	0.459000	0.35465	CAC	TROAP	-	NULL	ENSG00000135451		0.557	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	213	0.92	2	A	NM_005480		49724097	49724097	+1	no_errors	ENST00000257909	ensembl	human	known	69_37n	missense	155	13.41	24	SNP	0.014	C
TROAP	10024	genome.wustl.edu	37	12	49724636	49724636	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:49724636A>C	ENST00000257909.3	+	13	2084	c.2008A>C	c.(2008-2010)Acc>Ccc	p.T670P	TROAP_ENST00000551245.1_Missense_Mutation_p.T670P|TROAP_ENST00000547923.1_Missense_Mutation_p.T349P	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	670	Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCCAGCAACCACCAGCCTGAT	0.592																																						dbGAP											0													147.0	142.0	143.0					12																	49724636		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2008A>C	12.37:g.49724636A>C	ENSP00000257909:p.Thr670Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.T670P	ENST00000257909.3	37	c.2008	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701730	0.68501	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.67	1.73	0.24493	.	0.617332	0.15071	N	0.282183	T	0.42404	0.1201	L	0.46157	1.445	0.24457	N	0.994457	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.65573	0.936;0.936;0.936	T	0.22941	-1.0202	9	0.24483	T	0.36	-7.4253	4.4882	0.11801	0.6177:0.0:0.0829:0.2994	.	670;349;670	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	P	670;670;349	.	ENSP00000257909:T670P	T	+	1	0	TROAP	48010903	0.974000	0.33945	0.964000	0.40570	0.995000	0.86356	0.987000	0.29603	0.038000	0.15604	0.459000	0.35465	ACC	TROAP	-	NULL	ENSG00000135451		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	218	0.00	0	A	NM_005480		49724636	49724636	+1	no_errors	ENST00000257909	ensembl	human	known	69_37n	missense	183	12.74	27	SNP	0.986	C
TRPC5	7224	genome.wustl.edu	37	X	111078256	111078256	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:111078256T>G	ENST00000262839.2	-	7	2707	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	597					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACAAACTCGGTGAATTCGTGT	0.423																																						dbGAP											0													332.0	300.0	311.0					X																	111078256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1789A>C	X.37:g.111078256T>G	ENSP00000262839:p.Thr597Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.T597P	ENST00000262839.2	37	c.1789	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658659	0.88154	.	.	ENSG00000072315	ENST00000262839	D	0.98550	-4.99	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99564	1.0969	10	0.51188	T	0.08	-1.5416	14.7019	0.69162	0.0:0.0:0.0:1.0	.	598;597	Q59G51;Q9UL62	.;TRPC5_HUMAN	P	597	ENSP00000262839:T597P	ENSP00000262839:T597P	T	-	1	0	TRPC5	110964912	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.993000	0.88291	1.853000	0.53794	0.441000	0.28932	ACC	TRPC5	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000072315		0.423	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	495	0.00	0	T	NM_012471		111078256	111078256	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	missense	475	11.87	64	SNP	1.000	G
TRPM6	140803	genome.wustl.edu	37	9	77377964	77377964	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:77377964A>C	ENST00000360774.1	-	26	3860	c.3623T>G	c.(3622-3624)gTg>gGg	p.V1208G	TRPM6_ENST00000451710.3_Missense_Mutation_p.V1208G|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1203G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1208G|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1203G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1208					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGTGTCCCACCTGGCTGTC	0.478																																						dbGAP											0													74.0	77.0	76.0					9																	77377964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3623T>G	9.37:g.77377964A>C	ENSP00000354006:p.Val1208Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.V1208G	ENST00000360774.1	37	c.3623	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731043	0.89390	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.94	5.94	0.96194	.	0.125338	0.53938	D	0.000044	T	0.29945	0.0749	L	0.50333	1.59	0.80722	D	1	P;P;P	0.48640	0.858;0.82;0.913	P;P;P	0.52109	0.493;0.69;0.69	T	0.00998	-1.1486	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1208;1203;1203	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	G	1208;1208;1203;1203;1208;871;871	ENSP00000354006:V1208G;ENSP00000407341:V1208G;ENSP00000396672:V1203G;ENSP00000354962:V1203G;ENSP00000366060:V1208G	ENSP00000309693:V871G	V	-	2	0	TRPM6	76567784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.275000	0.75901	0.528000	0.53228	GTG	TRPM6	-	NULL	ENSG00000119121		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	215	0.46	1	A	NM_017662		77377964	77377964	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	136	12.18	19	SNP	1.000	C
TRPM6	140803	genome.wustl.edu	37	9	77427300	77427300	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:77427300A>C	ENST00000360774.1	-	12	1595	c.1358T>G	c.(1357-1359)gTg>gGg	p.V453G	TRPM6_ENST00000451710.3_Missense_Mutation_p.V453G|TRPM6_ENST00000376872.3_Missense_Mutation_p.V453G|TRPM6_ENST00000449912.2_Missense_Mutation_p.V448G|TRPM6_ENST00000376871.3_Missense_Mutation_p.V453G|TRPM6_ENST00000376864.4_Missense_Mutation_p.V453G|TRPM6_ENST00000361255.3_Missense_Mutation_p.V448G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	453					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACAAAATCCACCCGATCCAT	0.393																																						dbGAP											0													104.0	96.0	99.0					9																	77427300		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1358T>G	9.37:g.77427300A>C	ENSP00000354006:p.Val453Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.V453G	ENST00000360774.1	37	c.1358	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421994	0.83559	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.74355	-0.3692	10	0.87932	D	0	.	15.9731	0.80036	1.0:0.0:0.0:0.0	.	453;453;453;448	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	G	453;453;453;453;448;448;453;116;116	ENSP00000354006:V453G;ENSP00000407341:V453G;ENSP00000366068:V453G;ENSP00000366067:V453G;ENSP00000396672:V448G;ENSP00000354962:V448G;ENSP00000366060:V453G	ENSP00000309693:V116G	V	-	2	0	TRPM6	76617120	1.000000	0.71417	0.510000	0.27712	0.913000	0.54294	9.339000	0.96797	2.176000	0.68965	0.528000	0.53228	GTG	TRPM6	-	NULL	ENSG00000119121		0.393	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	136	0.00	0	A	NM_017662		77427300	77427300	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	127	20.13	32	SNP	1.000	C
TRPV2	51393	genome.wustl.edu	37	17	16336927	16336927	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:16336927T>G	ENST00000338560.7	+	13	2428	c.2029T>G	c.(2029-2031)Tgg>Ggg	p.W677G	TRPV2_ENST00000577397.1_Missense_Mutation_p.W247G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	677					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGCTATTGGTGGTGCAGGAA	0.587																																						dbGAP											0													147.0	129.0	135.0					17																	16336927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2029T>G	17.37:g.16336927T>G	ENSP00000342222:p.Trp677Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.W677G	ENST00000338560.7	37	c.2029	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	T	7.838	0.721245	0.15372	.	.	ENSG00000187688	ENST00000338560	D	0.90844	-2.74	5.79	5.79	0.91817	.	0.340629	0.37809	N	0.001937	D	0.87313	0.6146	L	0.36672	1.1	0.45607	D	0.998548	P	0.41710	0.76	B	0.43331	0.416	D	0.85480	0.1178	10	0.25106	T	0.35	-33.2836	14.0861	0.64957	0.0:0.0:0.0:1.0	.	677	Q9Y5S1	TRPV2_HUMAN	G	677	ENSP00000342222:W677G	ENSP00000342222:W677G	W	+	1	0	TRPV2	16277652	0.729000	0.28090	1.000000	0.80357	0.380000	0.30137	0.280000	0.18790	2.220000	0.72140	0.528000	0.53228	TGG	TRPV2	-	tigrfam_TRP_channel	ENSG00000187688		0.587	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	60	0.00	0	T	NM_016113		16336927	16336927	+1	no_errors	ENST00000338560	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	1.000	G
TRRAP	8295	genome.wustl.edu	37	7	98554139	98554139	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:98554139A>C	ENST00000359863.4	+	42	6402	c.6193A>C	c.(6193-6195)Acc>Ccc	p.T2065P	TRRAP_ENST00000446306.3_Missense_Mutation_p.T2046P|TRRAP_ENST00000355540.3_Missense_Mutation_p.T2047P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2065	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGACGGCCACCGGAGCCAT	0.502																																						dbGAP											0													102.0	94.0	97.0					7																	98554139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6193A>C	7.37:g.98554139A>C	ENSP00000352925:p.Thr2065Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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.T2065P	ENST00000359863.4	37	c.6193	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696827	0.48202	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02863	4.14;4.13	5.69	3.15	0.36227	.	0.164757	0.53938	D	0.000050	T	0.01870	0.0059	N	0.14661	0.345	0.58432	D	0.99999	B;B;B	0.31931	0.263;0.01;0.347	B;B;B	0.26614	0.071;0.004;0.047	T	0.63014	-0.6731	10	0.23891	T	0.37	.	10.7061	0.45956	0.7458:0.0:0.0:0.2542	.	2047;1786;2065	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	P	2065;2047;2045	ENSP00000352925:T2065P;ENSP00000347733:T2047P	ENSP00000347733:T2047P	T	+	1	0	TRRAP	98392075	1.000000	0.71417	0.910000	0.35882	0.923000	0.55619	4.172000	0.58243	0.967000	0.38186	0.533000	0.62120	ACC	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.502	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	106	0.00	0	A	NM_003496		98554139	98554139	+1	no_errors	ENST00000359863	ensembl	human	known	69_37n	missense	144	13.45	23	SNP	1.000	C
TRRAP	8295	genome.wustl.edu	37	7	98588155	98588155	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:98588155A>C	ENST00000359863.4	+	63	9890	c.9681A>C	c.(9679-9681)ccA>ccC	p.P3227P	TRRAP_ENST00000446306.3_Silent_p.P3198P|TRRAP_ENST00000355540.3_Silent_p.P3198P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3227	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGGTGTGCCACCCATCCAGT	0.527																																						dbGAP											0													101.0	85.0	91.0					7																	98588155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9681A>C	7.37:g.98588155A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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.H2938P	ENST00000359863.4	37	c.8813	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	A	8.215	0.801144	0.16397	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52852	-0.8520	4	.	.	.	.	1.7705	0.03010	0.2124:0.1246:0.2809:0.3822	.	.	.	.	P	2938	.	.	H	+	2	0	TRRAP	98426091	0.000000	0.05858	0.048000	0.18961	0.971000	0.66376	-6.120000	0.00080	-4.431000	0.00049	-1.100000	0.02121	CAC	TRRAP	-	pfscan_PIK_FAT	ENSG00000196367		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	78	0.00	0	A	NM_003496		98588155	98588155	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456197	ensembl	human	novel	69_37n	missense	41	26.79	15	SNP	0.001	C
TRPV6	55503	genome.wustl.edu	37	7	142575693	142575693	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:142575693A>C	ENST00000359396.3	-	2	460	c.215T>G	c.(214-216)gTg>gGg	p.V72G	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	72					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTCTGGTGCACCTTGCAATC	0.542																																						dbGAP											0													212.0	160.0	178.0					7																	142575693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.215T>G	7.37:g.142575693A>C	ENSP00000352358:p.Val72Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.V72G	ENST00000359396.3	37	c.215	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770653	0.49680	.	.	ENSG00000165125	ENST00000359396	T	0.69685	-0.42	4.24	4.24	0.50183	Ankyrin repeat-containing domain (4);	0.487723	0.20603	N	0.089102	T	0.77903	0.4200	M	0.93638	3.44	0.54753	D	0.999986	P	0.36974	0.576	B	0.42386	0.386	T	0.82989	-0.0183	10	0.87932	D	0	-19.7033	12.311	0.54927	1.0:0.0:0.0:0.0	.	72	Q9H1D0	TRPV6_HUMAN	G	72	ENSP00000352358:V72G	ENSP00000352358:V72G	V	-	2	0	TRPV6	142285815	0.598000	0.26882	0.957000	0.39632	0.746000	0.42486	5.263000	0.65507	1.772000	0.52199	0.533000	0.62120	GTG	TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000165125		0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	121	0.00	0	A	NM_014274		142575693	142575693	-1	no_errors	ENST00000359396	ensembl	human	known	69_37n	missense	127	12.93	19	SNP	0.999	C
TSC22D3	1831	genome.wustl.edu	37	X	106957903	106957903	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:106957903A>C	ENST00000372397.2	-	3	574	c.251T>G	c.(250-252)gTg>gGg	p.V84G	TSC22D3_ENST00000372384.2_Missense_Mutation_p.V150G|TSC22D3_ENST00000372390.4_Missense_Mutation_p.V27G|TSC22D3_ENST00000315660.4_Missense_Mutation_p.V150G|TSC22D3_ENST00000514426.1_Missense_Mutation_p.V82G|TSC22D3_ENST00000372382.4_Missense_Mutation_p.V60G|TSC22D3_ENST00000372383.4_Missense_Mutation_p.V150G|TSC22D3_ENST00000506081.1_Missense_Mutation_p.V150G	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	84	Leucine-zipper.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						GTTCTTCTCCACCAGCTCTCG	0.527																																						dbGAP											0													179.0	161.0	167.0					X																	106957903		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.251T>G	X.37:g.106957903A>C	ENSP00000361474:p.Val84Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.V150G	ENST00000372397.2	37	c.449	CCDS14531.1	X	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542067	0.45280	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426	.	.	.	5.52	5.52	0.82312	.	0.246377	0.40640	N	0.001056	T	0.45994	0.1370	L	0.36672	1.1	0.58432	D	0.999999	P;B	0.34724	0.465;0.045	B;B	0.28011	0.085;0.079	T	0.51364	-0.8715	9	0.72032	D	0.01	-13.0489	12.659	0.56803	1.0:0.0:0.0:0.0	.	150;84	Q99576-3;Q99576	.;T22D3_HUMAN	G	27;84;150;150;150;129;60;150;82	.	ENSP00000314655:V150G	V	-	2	0	TSC22D3	106844559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.913000	0.69957	1.965000	0.57142	0.486000	0.48141	GTG	TSC22D3	-	pfam_TSC-22_Dip_Bun	ENSG00000157514		0.527	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057843.2	249	0.40	1	A	NM_198057		106957903	106957903	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	missense	155	11.36	20	SNP	1.000	C
TSC22D3	1831	genome.wustl.edu	37	X	106957972	106957972	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:106957972A>C	ENST00000372397.2	-	3	505	c.182T>G	c.(181-183)gTg>gGg	p.V61G	TSC22D3_ENST00000372384.2_Missense_Mutation_p.V127G|TSC22D3_ENST00000372390.4_Missense_Mutation_p.V4G|TSC22D3_ENST00000315660.4_Missense_Mutation_p.V127G|TSC22D3_ENST00000514426.1_Missense_Mutation_p.V59G|TSC22D3_ENST00000372382.4_Missense_Mutation_p.V37G|TSC22D3_ENST00000372383.4_Missense_Mutation_p.V127G|TSC22D3_ENST00000506081.1_Missense_Mutation_p.V127G	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	61					body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						ATGATTCTTCACCAGATCCTG	0.527																																						dbGAP											0													112.0	94.0	100.0					X																	106957972		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.182T>G	X.37:g.106957972A>C	ENSP00000361474:p.Val61Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.V127G	ENST00000372397.2	37	c.380	CCDS14531.1	X	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569556	0.65765	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000486554	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.86953	2.85	0.80722	D	1	D;B	0.89917	1.0;0.307	D;B	0.83275	0.996;0.398	D	0.84211	0.0456	9	0.87932	D	0	-13.0489	12.4495	0.55669	1.0:0.0:0.0:0.0	.	127;61	Q99576-3;Q99576	.;T22D3_HUMAN	G	4;61;127;127;127;106;37;127;59;4	.	ENSP00000314655:V127G	V	-	2	0	TSC22D3	106844628	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.281000	0.95811	1.915000	0.55452	0.486000	0.48141	GTG	TSC22D3	-	pfam_TSC-22_Dip_Bun	ENSG00000157514		0.527	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057843.2	197	0.00	0	A	NM_198057		106957972	106957972	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	missense	83	18.63	19	SNP	1.000	C
TSHR	7253	genome.wustl.edu	37	14	81609799	81609799	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:81609799A>C	ENST00000541158.2	+	11	1719	c.1397A>C	c.(1396-1398)tAc>tCc	p.Y466S	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.Y466S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	466					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATGGGGATGTACCTGCTCCTC	0.542			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													727.0	563.0	619.0					14																	81609799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1397A>C	14.37:g.81609799A>C	ENSP00000441235:p.Tyr466Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.Y466S	ENST00000541158.2	37	c.1397	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965730	0.74131	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.81739	-1.53;-1.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94127	0.7385	10	0.87932	D	0	.	16.0365	0.80635	1.0:0.0:0.0:0.0	.	466	F5GYU5	.	S	466;113;466	ENSP00000441235:Y466S;ENSP00000298171:Y466S	ENSP00000298171:Y466S	Y	+	2	0	TSHR	80679552	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TAC	TSHR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000165409		0.542	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	230	0.00	0	A	NM_000369		81609799	81609799	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	missense	160	14.29	27	SNP	1.000	C
TSHZ3	57616	genome.wustl.edu	37	19	31770007	31770007	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:31770007A>C	ENST00000240587.4	-	2	1019	c.692T>G	c.(691-693)gTg>gGg	p.V231G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	231					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTTCATGTGCACCGTCAACTC	0.592																																						dbGAP											0													197.0	177.0	184.0					19																	31770007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.692T>G	19.37:g.31770007A>C	ENSP00000240587:p.Val231Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.V231G	ENST00000240587.4	37	c.692	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808789	0.70797	.	.	ENSG00000121297	ENST00000240587	T	0.15487	2.42	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.41734	-0.9492	10	0.72032	D	0.01	-27.4117	15.4586	0.75336	1.0:0.0:0.0:0.0	.	231	Q63HK5	TSH3_HUMAN	G	231	ENSP00000240587:V231G	ENSP00000240587:V231G	V	-	2	0	TSHZ3	36461847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.030000	0.59900	0.533000	0.62120	GTG	TSHZ3	-	smart_Znf_C2H2-like	ENSG00000121297		0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	231	0.85	2	A	NM_020856		31770007	31770007	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	missense	234	13.87	38	SNP	1.000	C
TSN	7247	genome.wustl.edu	37	2	122522770	122522770	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:122522770A>C	ENST00000389682.3	+	6	761	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Missense_Mutation_p.H145P|TSN_ENST00000409193.1_Missense_Mutation_p.T167P	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	172					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				CCACATCTCCACCTTCATCAA	0.498																																						dbGAP											0													243.0	243.0	243.0					2																	122522770		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.514A>C	2.37:g.122522770A>C	ENSP00000374332:p.Thr172Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3X8|Q5U0K7	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.T172P	ENST00000389682.3	37	c.514	CCDS33284.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.21|12.21	1.871006|1.871006	0.33069|0.33069	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000536142|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	4.51|4.51	0.55191|0.55191	.|Translin, C-terminal (1);	.|0.096756	.|0.64402	.|D	.|0.000001	T|T	0.34077|0.34077	0.0885|0.0885	L|L	0.46157|0.46157	1.445|1.445	0.26575|0.26575	N|N	0.973486|0.973486	B|B;B	0.02656|0.28998	0.0|0.23;0.017	B|B;B	0.01281|0.30572	0.0|0.117;0.074	T|T	0.22277|0.22277	-1.0221|-1.0221	7|9	.|0.32370	.|T	.|0.25	-14.4771|-14.4771	7.8654|7.8654	0.29535|0.29535	0.72:0.1432:0.0:0.1368|0.72:0.1432:0.0:0.1368	.|.	145|125;172	B7Z3X8|B3KRM8;Q15631	.|.;TSN_HUMAN	P|P	145|172;138;167	.|.	.|ENSP00000374332:T172P	H|T	+|+	2|1	0|0	TSN|TSN	122239240|122239240	0.734000|0.734000	0.28142|0.28142	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.837000|1.837000	0.39201|0.39201	1.068000|1.068000	0.40764|0.40764	0.533000|0.533000	0.62120|0.62120	CAC|ACC	TSN	-	pfam_Translin,superfamily_Translin	ENSG00000211460		0.498	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSN	HGNC	protein_coding	OTTHUMT00000330767.1	301	0.66	2	A	NM_004622		122522770	122522770	+1	no_errors	ENST00000389682	ensembl	human	known	69_37n	missense	343	12.28	48	SNP	1.000	C
TSPAN14	81619	genome.wustl.edu	37	10	82267071	82267071	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:82267071A>C	ENST00000429989.3	+	4	443	c.220A>C	c.(220-222)Acc>Ccc	p.T74P	TSPAN14_ENST00000372156.1_Missense_Mutation_p.T74P|TSPAN14_ENST00000372164.3_Missense_Mutation_p.T57P|TSPAN14_ENST00000341863.6_Missense_Mutation_p.T74P|TSPAN14_ENST00000372158.1_Missense_Mutation_p.T74P|TSPAN14_ENST00000481124.1_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	74					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGTGATGTTCACCCTGGGGTT	0.582																																						dbGAP											0													128.0	118.0	121.0					10																	82267071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.220A>C	10.37:g.82267071A>C	ENSP00000396270:p.Thr74Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T74P	ENST00000429989.3	37	c.220	CCDS7369.1	10	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829101	0.90955	.	.	ENSG00000108219	ENST00000429989;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.86	4.86	0.63082	Tetraspanin, conserved site (1);	0.097389	0.64402	D	0.000001	D	0.83769	0.5326	M	0.64404	1.975	0.52501	D	0.99995	P;D	0.54047	0.941;0.964	P;P	0.53266	0.722;0.709	D	0.85695	0.1309	10	0.72032	D	0.01	-17.4499	12.6842	0.56938	1.0:0.0:0.0:0.0	.	74;57	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	P	74;44;57;74;74;74	ENSP00000396270:T74P;ENSP00000361230:T44P;ENSP00000361237:T57P;ENSP00000361231:T74P;ENSP00000344076:T74P;ENSP00000361229:T74P	ENSP00000344076:T74P	T	+	1	0	TSPAN14	82257051	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	5.046000	0.64226	1.939000	0.56221	0.454000	0.30748	ACC	TSPAN14	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000108219		0.582	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	89	0.00	0	A	NM_030927		82267071	82267071	+1	no_errors	ENST00000372156	ensembl	human	known	69_37n	missense	86	18.87	20	SNP	1.000	C
TSPAN14	81619	genome.wustl.edu	37	10	82280511	82280511	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:82280511A>C	ENST00000429989.3	+	0	3815				TSPAN14_ENST00000372164.3_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCTTTGCACCACCCACCATGC	0.537																																						dbGAP											0													257.0	248.0	251.0					10																	82280511		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*2779A>C	10.37:g.82280511A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	NULL	p.P119	ENST00000429989.3	37	c.357	CCDS7369.1	10																																																																																			TSPAN14	-	NULL	ENSG00000108219		0.537	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	332	0.89	3	A	NM_030927		82280511	82280511	+1	no_errors	ENST00000372160	ensembl	human	known	69_37n	silent	236	25.24	80	SNP	0.000	C
TSPAN14	81619	genome.wustl.edu	37	10	82280515	82280515	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:82280515A>C	ENST00000429989.3	+	0	3819				TSPAN14_ENST00000372164.3_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGCACCACCCACCATGCCCCA	0.542																																						dbGAP											0													257.0	248.0	251.0					10																	82280515		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*2783A>C	10.37:g.82280515A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	NULL	p.T121P	ENST00000429989.3	37	c.361	CCDS7369.1	10	.	.	.	.	.	.	.	.	.	.	A	6.121	0.390643	0.11581	.	.	ENSG00000108219	ENST00000372160	.	.	.	3.03	-6.05	0.02172	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29792	-1.0000	5	0.87932	D	0	.	0.6049	0.00751	0.2057:0.2393:0.2962:0.2588	.	.	.	.	P	121	.	ENSP00000361233:T121P	T	+	1	0	TSPAN14	82270495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.711000	0.01886	-2.411000	0.00571	-1.260000	0.01463	ACC	TSPAN14	-	NULL	ENSG00000108219		0.542	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	332	0.59	2	A	NM_030927		82280515	82280515	+1	no_errors	ENST00000372160	ensembl	human	known	69_37n	missense	258	17.46	55	SNP	0.000	C
TSPAN14	81619	genome.wustl.edu	37	10	82280584	82280584	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:82280584A>C	ENST00000429989.3	+	0	3888				TSPAN14_ENST00000372164.3_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCTCTGTAGCACCAGACACTG	0.552																																						dbGAP											0													174.0	162.0	166.0					10																	82280584		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*2852A>C	10.37:g.82280584A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	NULL	p.T144P	ENST00000429989.3	37	c.430	CCDS7369.1	10	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157353	0.38119	.	.	ENSG00000108219	ENST00000372160	.	.	.	2.72	-5.44	0.02624	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35773	-0.9775	5	0.87932	D	0	.	0.755	0.00997	0.2531:0.3164:0.1142:0.3163	.	.	.	.	P	144	.	ENSP00000361233:T144P	T	+	1	0	TSPAN14	82270564	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.518000	0.00953	-1.410000	0.02035	-0.290000	0.09829	ACC	TSPAN14	-	NULL	ENSG00000108219		0.552	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	225	0.88	2	A	NM_030927		82280584	82280584	+1	no_errors	ENST00000372160	ensembl	human	known	69_37n	missense	145	19.23	35	SNP	0.000	C
TSPAN8	7103	genome.wustl.edu	37	12	71533563	71533563	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:71533563A>C	ENST00000393330.2	-	7	741	c.189T>G	c.(187-189)ggT>ggG	p.G63G	TSPAN8_ENST00000247829.3_Silent_p.G63G|TSPAN8_ENST00000552128.1_5'Flank|TSPAN8_ENST00000552786.1_5'Flank|TSPAN8_ENST00000546561.1_Silent_p.G63G			P19075	TSN8_HUMAN	tetraspanin 8	63					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGATGATGGCACCTACAGCAA	0.428																																						dbGAP											0													158.0	152.0	154.0					12																	71533563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.189T>G	12.37:g.71533563A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T7|Q9BS78	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G63	ENST00000393330.2	37	c.189	CCDS8999.1	12																																																																																			TSPAN8	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000127324		0.428	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	364	0.00	0	A	NM_004616		71533563	71533563	-1	no_errors	ENST00000247829	ensembl	human	known	69_37n	silent	229	12.17	32	SNP	0.056	C
TSPYL5	85453	genome.wustl.edu	37	8	98289111	98289111	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:98289111A>C	ENST00000322128.3	-	1	1065	c.962T>G	c.(961-963)gTg>gGg	p.V321G		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	321					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACGAGACACCACCTGGCCAGA	0.493																																						dbGAP											0													94.0	84.0	87.0					8																	98289111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.962T>G	8.37:g.98289111A>C	ENSP00000322802:p.Val321Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.V321G	ENST00000322128.3	37	c.962	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429013	0.62844	.	.	ENSG00000180543	ENST00000322128	T	0.32515	1.45	4.3	4.3	0.51218	.	0.000000	0.34245	N	0.004127	T	0.47655	0.1457	M	0.73319	2.225	0.54753	D	0.999987	P	0.49307	0.922	P	0.58577	0.841	T	0.50074	-0.8870	10	0.87932	D	0	-24.7976	10.1347	0.42699	1.0:0.0:0.0:0.0	.	321	Q86VY4	TSYL5_HUMAN	G	321	ENSP00000322802:V321G	ENSP00000322802:V321G	V	-	2	0	TSPYL5	98358287	0.966000	0.33281	1.000000	0.80357	0.782000	0.44232	4.542000	0.60677	2.174000	0.68829	0.460000	0.39030	GTG	TSPYL5	-	pfam_NAP_family	ENSG00000180543		0.493	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	159	0.62	1	A	NM_033512		98289111	98289111	-1	no_errors	ENST00000322128	ensembl	human	known	69_37n	missense	138	14.29	23	SNP	1.000	C
TTBK1	84630	genome.wustl.edu	37	6	43250493	43250493	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43250493T>G	ENST00000259750.4	+	14	2098	c.2015T>G	c.(2014-2016)gTg>gGg	p.V672G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	672					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCATTTGAGGTGAATGGCCTC	0.612																																						dbGAP											0													89.0	97.0	94.0					6																	43250493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2015T>G	6.37:g.43250493T>G	ENSP00000259750:p.Val672Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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,pfscan_Prot_kinase_cat_dom	p.V672G	ENST00000259750.4	37	c.2015	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	T	11.09	1.537030	0.27475	.	.	ENSG00000146216	ENST00000259750	T	0.54279	0.58	4.27	4.27	0.50696	.	1.190040	0.06288	N	0.698699	T	0.19127	0.0459	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04565	-1.0942	10	0.15066	T	0.55	.	12.3563	0.55178	0.0:0.0:0.0:1.0	.	672	Q5TCY1	TTBK1_HUMAN	G	672	ENSP00000259750:V672G	ENSP00000259750:V672G	V	+	2	0	TTBK1	43358471	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	3.523000	0.53488	1.562000	0.49601	0.454000	0.30748	GTG	TTBK1	-	NULL	ENSG00000146216		0.612	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	188	0.00	0	T			43250493	43250493	+1	no_errors	ENST00000259750	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	1.000	G
TTBK2	146057	genome.wustl.edu	37	15	43164939	43164939	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:43164939A>C	ENST00000267890.6	-	3	195	c.87T>G	c.(85-87)ggT>ggG	p.G29G	TTBK2_ENST00000567485.1_Intron|TTBK2_ENST00000567274.1_Silent_p.G29G|TTBK2_ENST00000567840.1_Silent_p.G29G	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAAAGCCCCCACCCCCAATCT	0.383																																						dbGAP											0													93.0	84.0	87.0					15																	43164939		1853	4084	5937	-	-	-	SO:0001819	synonymous_variant	0			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.87T>G	15.37:g.43164939A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94932|Q6ZN52|Q8IVV1	Silent	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,pfscan_Prot_kinase_cat_dom	p.G29	ENST00000267890.6	37	c.87	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	A	9.541	1.113353	0.20795	.	.	ENSG00000128881	ENST00000263802	.	.	.	5.66	4.54	0.55810	.	1.423130	0.04075	N	0.308618	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19289	-1.0310	6	0.02654	T	1	.	11.4656	0.50237	0.9296:0.0:0.0704:0.0	.	.	.	.	G	10	.	ENSP00000263802:W10G	W	-	1	0	TTBK2	40952231	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.753000	0.26376	0.979000	0.38497	0.533000	0.62120	TGG	TTBK2	-	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,pfscan_Prot_kinase_cat_dom	ENSG00000128881		0.383	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	352	0.56	2	A	NM_173500		43164939	43164939	-1	no_errors	ENST00000267890	ensembl	human	known	69_37n	silent	218	15.50	40	SNP	1.000	C
TTC17	55761	genome.wustl.edu	37	11	43427132	43427132	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:43427132T>G	ENST00000039989.4	+	12	1562	c.1548T>G	c.(1546-1548)ggT>ggG	p.G516G	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.G516G	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	516					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCCCTGTTGGTGGGGAATTGC	0.418																																						dbGAP											0													141.0	150.0	147.0					11																	43427132		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1548T>G	11.37:g.43427132T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB3|Q8NEC0	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G516	ENST00000039989.4	37	c.1548	CCDS31466.1	11																																																																																			TTC17	-	NULL	ENSG00000052841		0.418	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	263	0.38	1	T	NM_018259		43427132	43427132	+1	no_errors	ENST00000039989	ensembl	human	known	69_37n	silent	251	10.92	31	SNP	0.897	G
TTC12	54970	genome.wustl.edu	37	11	113230091	113230091	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:113230091T>G	ENST00000529221.1	+	17	1558	c.1453T>G	c.(1453-1455)Tgt>Ggt	p.C485G	TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.C485G|TTC12_ENST00000483239.2_Missense_Mutation_p.C491G|TTC12_ENST00000393020.1_Missense_Mutation_p.C485G	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	485										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAAGGCCAGGTGTGAGGAGGA	0.483																																						dbGAP											0													258.0	219.0	232.0					11																	113230091		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1453T>G	11.37:g.113230091T>G	ENSP00000433757:p.Cys485Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C485G	ENST00000529221.1	37	c.1453	CCDS8360.2	11	.	.	.	.	.	.	.	.	.	.	T	15.67	2.900902	0.52227	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	1.215300	0.05372	N	0.535642	T	0.67439	0.2893	M	0.73598	2.24	0.36954	D	0.893024	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.51834	-0.8655	10	0.51188	T	0.08	-9.9058	12.7371	0.57232	0.0:0.0:0.0:1.0	.	485;485	A8K8G6;Q9H892	.;TTC12_HUMAN	G	485;485;485;491	ENSP00000433757:C485G;ENSP00000315160:C485G;ENSP00000376743:C485G;ENSP00000419652:C491G	ENSP00000315160:C485G	C	+	1	0	TTC12	112735301	0.997000	0.39634	0.991000	0.47740	0.654000	0.38779	3.909000	0.56363	2.261000	0.74972	0.533000	0.62120	TGT	TTC12	-	superfamily_ARM-type_fold	ENSG00000149292		0.483	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	HGNC	protein_coding	OTTHUMT00000286455.2	179	0.55	1	T	NM_017868		113230091	113230091	+1	no_errors	ENST00000314756	ensembl	human	known	69_37n	missense	142	20.22	36	SNP	0.985	G
TTC39B	158219	genome.wustl.edu	37	9	15211274	15211274	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:15211274T>G	ENST00000512701.2	-	5	640	c.604A>C	c.(604-606)Acc>Ccc	p.T202P	TTC39B_ENST00000541445.1_Missense_Mutation_p.T136P|TTC39B_ENST00000507285.1_Missense_Mutation_p.T37P|TTC39B_ENST00000380850.4_Missense_Mutation_p.T202P|TTC39B_ENST00000297615.5_Missense_Mutation_p.T133P|TTC39B_ENST00000355694.2_Missense_Mutation_p.T136P|TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000507993.1_Missense_Mutation_p.T37P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	202										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTTTGGCAGGTTTGTAAAGCG	0.443																																						dbGAP											0													150.0	138.0	142.0					9																	15211274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.604A>C	9.37:g.15211274T>G	ENSP00000422496:p.Thr202Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.T202P	ENST00000512701.2	37	c.604	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745406	0.69418	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993;ENST00000541445	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.77103	2.36	0.52099	D	0.999943	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.994;0.994	D;D;D;D;D	0.79784	0.947;0.968;0.993;0.953;0.953	T	0.71337	-0.4623	10	0.48119	T	0.1	-15.6564	15.7756	0.78214	0.0:0.0:0.0:1.0	.	133;202;202;136;136	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	P	202;133;136;202;37;37;136	ENSP00000370231:T202P;ENSP00000297615:T133P;ENSP00000347920:T136P;ENSP00000422496:T202P;ENSP00000426539:T37P;ENSP00000423392:T37P;ENSP00000442880:T136P	ENSP00000297615:T133P	T	-	1	0	TTC39B	15201274	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.958000	0.56737	2.214000	0.71695	0.528000	0.53228	ACC	TTC39B	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000155158		0.443	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	122	0.81	1	T	NM_152574		15211274	15211274	-1	no_errors	ENST00000512701	ensembl	human	known	69_37n	missense	64	21.69	18	SNP	1.000	G
TTC8	123016	genome.wustl.edu	37	14	89319366	89319366	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:89319366T>G	ENST00000345383.5	+	7	730	c.646T>G	c.(646-648)Tgg>Ggg	p.W216G	TTC8_ENST00000338104.6_Missense_Mutation_p.W242G|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Missense_Mutation_p.W226G|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000346301.4_Missense_Mutation_p.W186G|TTC8_ENST00000358622.5_Missense_Mutation_p.W28G	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	252					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAAGGACTGGTGGTGGAAAGT	0.368																																						dbGAP											0													89.0	78.0	82.0					14																	89319366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.646T>G	14.37:g.89319366T>G	ENSP00000339486:p.Trp216Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W242G	ENST00000345383.5	37	c.724	CCDS9885.1	14	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235100	0.79800	.	.	ENSG00000165533	ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000358622	T;T;T;T;T	0.80824	-1.42;1.22;1.22;1.22;-1.23	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	D	0.92376	0.5909	10	0.87932	D	0	-8.9798	15.2544	0.73573	0.0:0.0:0.0:1.0	.	252;196;226	Q8TAM2;Q8TAM2-3;Q8TAM2-4	TTC8_HUMAN;.;.	G	216;186;242;226;28	ENSP00000339486:W216G;ENSP00000298324:W186G;ENSP00000337653:W242G;ENSP00000370031:W226G;ENSP00000351439:W28G	ENSP00000337653:W242G	W	+	1	0	TTC8	88389119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.156000	0.77453	2.150000	0.67090	0.533000	0.62120	TGG	TTC8	-	smart_TPR_repeat	ENSG00000165533		0.368	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	163	0.00	0	T	NM_144596		89319366	89319366	+1	no_errors	ENST00000338104	ensembl	human	known	69_37n	missense	101	17.21	21	SNP	1.000	G
TTF1	7270	genome.wustl.edu	37	9	135266116	135266116	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:135266116A>C	ENST00000334270.2	-	7	2129	c.2090T>G	c.(2089-2091)gTg>gGg	p.V697G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	697	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTGGAATCCACCTCTTTTAA	0.423																																						dbGAP											0													170.0	174.0	172.0					9																	135266116		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2090T>G	9.37:g.135266116A>C	ENSP00000333920:p.Val697Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.V697G	ENST00000334270.2	37	c.2090	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	A	12.10	1.837869	0.32513	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11277	2.79	5.76	5.76	0.90799	SANT domain, DNA binding (1);MYB-like (1);	1.114660	0.06835	N	0.794622	T	0.11965	0.0291	N	0.14661	0.345	0.09310	N	0.999997	D	0.59357	0.985	P	0.49799	0.622	T	0.28554	-1.0040	10	0.19590	T	0.45	.	12.4761	0.55814	1.0:0.0:0.0:0.0	.	697	Q15361	TTF1_HUMAN	G	697	ENSP00000333920:V697G	ENSP00000245588:V697G	V	-	2	0	TTF1	134255937	0.114000	0.22134	0.030000	0.17652	0.008000	0.06430	3.327000	0.52045	2.191000	0.70037	0.533000	0.62120	GTG	TTF1	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000125482		0.423	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	221	0.00	0	A	NM_007344		135266116	135266116	-1	no_errors	ENST00000334270	ensembl	human	known	69_37n	missense	126	16.45	25	SNP	0.030	C
TTF1	7270	genome.wustl.edu	37	9	135277313	135277313	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:135277313A>C	ENST00000334270.2	-	2	935	c.896T>G	c.(895-897)gTg>gGg	p.V299G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	299					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCACTGCCCACTTGTGATCC	0.463																																						dbGAP											0													153.0	148.0	150.0					9																	135277313		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.896T>G	9.37:g.135277313A>C	ENSP00000333920:p.Val299Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.V299G	ENST00000334270.2	37	c.896	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	A	4.651	0.121021	0.08881	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.13307	2.6	2.25	-4.49	0.03504	.	.	.	.	.	T	0.06826	0.0174	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.40040	-0.9584	9	0.19590	T	0.45	.	2.5018	0.04635	0.3176:0.0:0.302:0.3804	.	299	Q15361	TTF1_HUMAN	G	299	ENSP00000333920:V299G	ENSP00000245588:V299G	V	-	2	0	TTF1	134267134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.430000	0.00235	-1.515000	0.01784	-0.605000	0.04089	GTG	TTF1	-	NULL	ENSG00000125482		0.463	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	404	0.49	2	A	NM_007344		135277313	135277313	-1	no_errors	ENST00000334270	ensembl	human	known	69_37n	missense	421	10.57	50	SNP	0.000	C
TTI2	80185	genome.wustl.edu	37	8	33360981	33360981	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:33360981T>G	ENST00000431156.2	-	6	1843	c.1225A>C	c.(1225-1227)Acc>Ccc	p.T409P	TTI2_ENST00000360742.5_Missense_Mutation_p.T409P|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.T378P	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	409																	AGTTTTAGGGTTTCCAATATC	0.438																																						dbGAP											0													151.0	150.0	150.0					8																	33360981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1225A>C	8.37:g.33360981T>G	ENSP00000411169:p.Thr409Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	pfam_DUF2454,superfamily_ARM-type_fold	p.T409P	ENST00000431156.2	37	c.1225	CCDS6090.1	8	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943749	0.73672	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.68331	-0.26;-0.26;-0.32	6.07	4.9	0.64082	.	0.134465	0.51477	D	0.000096	T	0.77136	0.4086	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.61940	0.896;0.806	T	0.78602	-0.2140	10	0.66056	D	0.02	-15.8318	12.1849	0.54231	0.0:0.0674:0.0:0.9326	.	409;378	Q6NXR4;E5RIH5	TTI2_HUMAN;.	P	409;409;398;378	ENSP00000353971:T409P;ENSP00000411169:T409P;ENSP00000428401:T378P	ENSP00000353971:T409P	T	-	1	0	C8orf41	33480523	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.054000	0.49908	1.093000	0.41377	0.533000	0.62120	ACC	TTI2	-	superfamily_ARM-type_fold	ENSG00000129696		0.438	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI2	HGNC	protein_coding	OTTHUMT00000376555.1	103	0.96	1	T	NM_025115		33360981	33360981	-1	no_errors	ENST00000360742	ensembl	human	known	69_37n	missense	102	14.17	17	SNP	1.000	G
TTLL1	25809	genome.wustl.edu	37	22	43435887	43435887	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:43435887A>C	ENST00000266254.7	-	11	1407	c.1167T>G	c.(1165-1167)ggT>ggG	p.G389G	TTLL1_ENST00000331018.7_Silent_p.G360G|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	389					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CAGCCCCGTCACCCTGGGCCA	0.622																																						dbGAP											0													68.0	72.0	71.0					22																	43435887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1167T>G	22.37:g.43435887A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	pfam_Tub_tyr_ligase	p.G389	ENST00000266254.7	37	c.1167	CCDS14043.1	22																																																																																			TTLL1	-	NULL	ENSG00000100271		0.622	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	106	0.00	0	A	NM_012263		43435887	43435887	-1	no_errors	ENST00000266254	ensembl	human	known	69_37n	silent	72	21.28	20	SNP	0.072	C
TTLL11	158135	genome.wustl.edu	37	9	124752039	124752039	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:124752039A>C	ENST00000373776.3	-	4	1161	c.974T>G	c.(973-975)gTg>gGg	p.V325G	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.V325G	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	325	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						ATCGTCTTTCACCATTTGAAC	0.473																																						dbGAP											0													91.0	100.0	97.0					9																	124752039		2193	4291	6484	-	-	-	SO:0001583	missense	0			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.974T>G	9.37:g.124752039A>C	ENSP00000362881:p.Val325Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.V325G	ENST00000373776.3	37	c.974	CCDS6834.2	9	.	.	.	.	.	.	.	.	.	.	A	6.854	0.526946	0.13066	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05139	3.49;3.49	4.93	4.93	0.64822	.	0.950240	0.08656	N	0.913190	T	0.03915	0.0110	N	0.05031	-0.125	0.54753	D	0.999986	B;B	0.22276	0.067;0.002	B;B	0.17433	0.017;0.018	T	0.44877	-0.9299	10	0.21540	T	0.41	.	10.0356	0.42127	0.8308:0.1692:0.0:0.0	.	325;325	F8W6M1;Q8NHH1	.;TTL11_HUMAN	G	325	ENSP00000321346:V325G;ENSP00000362881:V325G	ENSP00000321346:V325G	V	-	2	0	TTLL11	123791860	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	4.804000	0.62554	1.856000	0.53863	0.454000	0.30748	GTG	TTLL11	-	pfam_Tub_tyr_ligase	ENSG00000175764		0.473	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1	202	0.49	1	A	XM_088486		124752039	124752039	-1	no_errors	ENST00000321582	ensembl	human	known	69_37n	missense	126	15.33	23	SNP	1.000	C
TTLL2	83887	genome.wustl.edu	37	6	167754656	167754656	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:167754656A>G	ENST00000239587.5	+	3	1356	c.1268A>G	c.(1267-1269)gAg>gGg	p.E423G		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	423	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTAAGAAATGAGGGGAGAGAA	0.433																																						dbGAP											0													77.0	81.0	79.0					6																	167754656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1268A>G	6.37:g.167754656A>G	ENSP00000239587:p.Glu423Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E423G	ENST00000239587.5	37	c.1268	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991527	0.35131	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02787	4.16	3.5	0.795	0.18643	.	0.988290	0.08214	N	0.980304	T	0.01189	0.0039	L	0.50333	1.59	0.09310	N	1	P	0.48589	0.912	B	0.41135	0.348	T	0.49000	-0.8984	10	0.38643	T	0.18	.	5.2798	0.15668	0.602:0.2905:0.1075:0.0	.	423	Q9BWV7	TTLL2_HUMAN	G	423;350	ENSP00000239587:E423G	ENSP00000239587:E423G	E	+	2	0	TTLL2	167674646	0.001000	0.12720	0.004000	0.12327	0.023000	0.10783	1.466000	0.35310	0.525000	0.28522	0.402000	0.26972	GAG	TTLL2	-	NULL	ENSG00000120440		0.433	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	175	0.00	0	A	NM_031949		167754656	167754656	+1	no_errors	ENST00000239587	ensembl	human	known	69_37n	missense	238	10.19	27	SNP	0.000	G
TTLL4	9654	genome.wustl.edu	37	2	219619068	219619068	+	Missense_Mutation	SNP	A	A	C	rs554702609		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:219619068A>C	ENST00000392102.1	+	20	3896	c.3556A>C	c.(3556-3558)Act>Cct	p.T1186P	TTLL4_ENST00000442769.1_Missense_Mutation_p.T1122P|TTLL4_ENST00000457313.1_3'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.T1186P	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1186					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGCTTCCTCCACTTTCCAGTC	0.547																																					GBM(172;1818 2053 15407 20943 49753)	dbGAP											0													112.0	110.0	111.0					2																	219619068		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3556A>C	2.37:g.219619068A>C	ENSP00000375951:p.Thr1186Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.T1186P	ENST00000392102.1	37	c.3556	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	A	2.386	-0.341054	0.05243	.	.	ENSG00000135912	ENST00000392102;ENST00000442769;ENST00000258398	T;T;T	0.04551	4.03;3.6;4.03	4.6	0.753	0.18404	.	1.043340	0.07527	N	0.911609	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	P;P	0.37864	0.61;0.61	B;B	0.33042	0.157;0.157	T	0.41998	-0.9477	10	0.45353	T	0.12	.	2.7938	0.05394	0.5941:0.0:0.2168:0.1891	.	1122;1186	E7EX20;Q14679	.;TTLL4_HUMAN	P	1186;1122;1186	ENSP00000375951:T1186P;ENSP00000396555:T1122P;ENSP00000258398:T1186P	ENSP00000258398:T1186P	T	+	1	0	TTLL4	219327312	0.000000	0.05858	0.017000	0.16124	0.081000	0.17604	-0.694000	0.05115	0.319000	0.23209	0.533000	0.62120	ACT	TTLL4	-	NULL	ENSG00000135912		0.547	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	123	0.81	1	A	NM_014640		219619068	219619068	+1	no_errors	ENST00000258398	ensembl	human	known	69_37n	missense	110	13.74	18	SNP	0.001	C
TTLL5	23093	genome.wustl.edu	37	14	76201591	76201591	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:76201591A>C	ENST00000298832.9	+	15	1445	c.1240A>C	c.(1240-1242)Acc>Ccc	p.T414P	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.T414P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	414					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATTTATCCCACCTTTGAGTC	0.507																																						dbGAP											0													101.0	99.0	100.0					14																	76201591		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1240A>C	14.37:g.76201591A>C	ENSP00000298832:p.Thr414Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.T414P	ENST00000298832.9	37	c.1240	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595249	0.46318	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832	T;T	0.03441	3.93;4.0	5.17	5.17	0.71159	.	0.386274	0.25807	N	0.028163	T	0.04318	0.0119	L	0.43152	1.355	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.16722	0.016;0.007	T	0.40040	-0.9584	10	0.37606	T	0.19	.	8.4967	0.33132	0.8273:0.0:0.0:0.1727	.	414;414	G3V2J9;Q6EMB2	.;TTLL5_HUMAN	P	101;414;414	ENSP00000450713:T414P;ENSP00000298832:T414P	ENSP00000298832:T414P	T	+	1	0	TTLL5	75271344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.422000	0.44696	1.955000	0.56771	0.482000	0.46254	ACC	TTLL5	-	NULL	ENSG00000119685		0.507	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	275	0.36	1	A	NM_015072		76201591	76201591	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	missense	154	14.92	27	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179411885	179411885	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179411885A>C	ENST00000591111.1	-	290	89668	c.89444T>G	c.(89443-89445)gTg>gGg	p.V29815G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22583G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28888G|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22391G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V31456G|TTN_ENST00000359218.5_Missense_Mutation_p.V22516G|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29815	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCTTTCACCCAAAGAAT	0.408																																						dbGAP											0													317.0	310.0	312.0					2																	179411885		1913	4133	6046	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89444T>G	2.37:g.179411885A>C	ENSP00000465570:p.Val29815Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V28888G	ENST00000591111.1	37	c.86663		2	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257834	0.39896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.03	3.68	0.42216	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58864	0.2152	M	0.72479	2.2	0.80722	D	1	P;P;P;P	0.36683	0.565;0.565;0.565;0.565	P;P;P;P	0.45276	0.475;0.475;0.475;0.475	T	0.59920	-0.7363	9	0.87932	D	0	.	10.6558	0.45673	0.8712:0.0:0.1288:0.0	.	22391;22516;22583;29815	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	28888;22391;22583;22516;22388	ENSP00000343764:V28888G;ENSP00000434586:V22391G;ENSP00000340554:V22583G;ENSP00000352154:V22516G	ENSP00000340554:V22583G	V	-	2	0	TTN	179120131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.877000	0.56123	0.525000	0.28522	-0.264000	0.10439	GTG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	359	0.83	3	A	NM_133378		179411885	179411885	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	223	12.20	31	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179431755	179431755	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179431755A>C	ENST00000591111.1	-	276	74405	c.74181T>G	c.(74179-74181)ggT>ggG	p.G24727G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G17495G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G23800G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.G17303G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.G26368G|TTN_ENST00000359218.5_Silent_p.G17428G|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24727	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTCCAACACCATATTTGT	0.388																																						dbGAP											0													156.0	154.0	155.0					2																	179431755		1865	4088	5953	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74181T>G	2.37:g.179431755A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G23800	ENST00000591111.1	37	c.71400		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	226	0.00	0	A	NM_133378		179431755	179431755	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	163	14.14	27	SNP	0.855	C
TTN	7273	genome.wustl.edu	37	2	179440254	179440254	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179440254T>G	ENST00000591111.1	-	276	65906	c.65682A>C	c.(65680-65682)ccA>ccC	p.P21894P	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.P14662P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Silent_p.P20967P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P14470P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.P23535P|TTN_ENST00000359218.5_Silent_p.P14595P|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21894	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGTCTGGTGGAGATGGTG	0.483																																						dbGAP											0													266.0	265.0	265.0					2																	179440254		2035	4189	6224	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65682A>C	2.37:g.179440254T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P20967	ENST00000591111.1	37	c.62901		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	174	0.57	1	T	NM_133378		179440254	179440254	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	173	11.28	22	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179466035	179466035	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179466035T>G	ENST00000591111.1	-	237	50990	c.50766A>C	c.(50764-50766)ccA>ccC	p.P16922P	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.P9690P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P15995P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.P9498P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.P18563P|TTN_ENST00000359218.5_Silent_p.P9623P			Q8WZ42	TITIN_HUMAN	titin	16922	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCACAGGTGGGCCAATAC	0.393																																						dbGAP											0													94.0	88.0	90.0					2																	179466035		1874	4102	5976	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50766A>C	2.37:g.179466035T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P15995	ENST00000591111.1	37	c.47985		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	138	0.00	0	T	NM_133378		179466035	179466035	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	114	13.53	18	SNP	0.246	G
TTN	7273	genome.wustl.edu	37	2	179474570	179474570	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179474570A>C	ENST00000591111.1	-	222	46881	c.46657T>G	c.(46657-46659)Tgg>Ggg	p.W15553G	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8321G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W14626G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W8129G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W17194G|TTN_ENST00000359218.5_Missense_Mutation_p.W8254G			Q8WZ42	TITIN_HUMAN	titin	15553	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTCTTCCACCTTTCTTCA	0.468																																						dbGAP											0													449.0	426.0	433.0					2																	179474570		1934	4142	6076	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46657T>G	2.37:g.179474570A>C	ENSP00000465570:p.Trp15553Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.W14626G	ENST00000591111.1	37	c.43876		2	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101391	0.37048	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81950	0.4931	H	0.97240	3.965	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	D;D;D;D	0.68483	0.939;0.939;0.939;0.958	D	0.88643	0.3177	9	0.87932	D	0	.	15.9735	0.80040	1.0:0.0:0.0:0.0	.	8129;8254;8321;15553	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	14626;8129;8321;8254;8129	ENSP00000343764:W14626G;ENSP00000434586:W8129G;ENSP00000340554:W8321G;ENSP00000352154:W8254G	ENSP00000340554:W8321G	W	-	1	0	TTN	179182815	1.000000	0.71417	0.924000	0.36721	0.944000	0.59088	9.339000	0.96797	2.159000	0.67721	0.533000	0.62120	TGG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	635	0.31	2	A	NM_133378		179474570	179474570	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	460	14.02	75	SNP	0.999	C
TTN	7273	genome.wustl.edu	37	2	179474580	179474580	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179474580A>C	ENST00000591111.1	-	222	46871	c.46647T>G	c.(46645-46647)ggT>ggG	p.G15549G	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G8317G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.G14622G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.G8125G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.G17190G|TTN_ENST00000359218.5_Silent_p.G8250G			Q8WZ42	TITIN_HUMAN	titin	15549	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCTTCACCCTTAGCAA	0.453																																						dbGAP											0													430.0	408.0	415.0					2																	179474580		1934	4144	6078	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46647T>G	2.37:g.179474580A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G14622	ENST00000591111.1	37	c.43866		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	610	0.16	1	A	NM_133378		179474580	179474580	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	431	13.97	70	SNP	0.998	C
TTN	7273	genome.wustl.edu	37	2	179489290	179489290	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179489290A>C	ENST00000591111.1	-	192	40018	c.39794T>G	c.(39793-39795)gTc>gGc	p.V13265G	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6033G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12338G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V5841G|TTN_ENST00000589042.1_Missense_Mutation_p.V14906G|TTN_ENST00000359218.5_Missense_Mutation_p.V5966G			Q8WZ42	TITIN_HUMAN	titin	13265	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTTTTCTGACCCTGCCATC	0.393																																						dbGAP											0													121.0	119.0	120.0					2																	179489290		1896	4097	5993	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39794T>G	2.37:g.179489290A>C	ENSP00000465570:p.Val13265Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V12338G	ENST00000591111.1	37	c.37013		2	.	.	.	.	.	.	.	.	.	.	A	12.69	2.015002	0.35511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72061	0.3414	L	0.55213	1.73	0.58432	D	0.999998	P;P;P;D	0.53312	0.92;0.92;0.92;0.959	P;P;P;P	0.50860	0.652;0.652;0.652;0.652	T	0.75328	-0.3356	9	0.87932	D	0	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	5841;5966;6033;13265	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12338;5841;6033;5966;5841	ENSP00000343764:V12338G;ENSP00000434586:V5841G;ENSP00000340554:V6033G;ENSP00000352154:V5966G	ENSP00000340554:V6033G	V	-	2	0	TTN	179197535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.809000	0.69172	2.323000	0.78572	0.528000	0.53228	GTC	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	124	0.00	0	A	NM_133378		179489290	179489290	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179489359	179489359	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179489359A>C	ENST00000591111.1	-	192	39949	c.39725T>G	c.(39724-39726)gTg>gGg	p.V13242G	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6010G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12315G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V5818G|TTN_ENST00000589042.1_Missense_Mutation_p.V14883G|TTN_ENST00000359218.5_Missense_Mutation_p.V5943G			Q8WZ42	TITIN_HUMAN	titin	13242	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACCATTTCACCTTAGCATT	0.458																																						dbGAP											0													85.0	83.0	83.0					2																	179489359		1875	4099	5974	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39725T>G	2.37:g.179489359A>C	ENSP00000465570:p.Val13242Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V12315G	ENST00000591111.1	37	c.36944		2	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987726	0.53934	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89111	0.6622	M	0.83852	2.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90446	0.4435	9	0.87932	D	0	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	5818;5943;6010;13242	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12315;5818;6010;5943;5818	ENSP00000343764:V12315G;ENSP00000434586:V5818G;ENSP00000340554:V6010G;ENSP00000352154:V5943G	ENSP00000340554:V6010G	V	-	2	0	TTN	179197604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.323000	0.78572	0.528000	0.53228	GTG	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	111	0.00	0	A	NM_133378		179489359	179489359	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	76	17.39	16	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179526496	179526496	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179526496T>G	ENST00000591111.1	-	154	34489				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P12425P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAACAGGTGGGACTTCAG	0.343																																						dbGAP											0													115.0	117.0	117.0					2																	179526496		870	1988	2858	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-2975A>C	2.37:g.179526496T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P12425	ENST00000591111.1	37	c.37275		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	105	0.00	0	T	NM_133378		179526496	179526496	-1	no_errors	ENST00000589042	ensembl	human	putative	69_37n	silent	124	13.19	19	SNP	0.049	G
TTN	7273	genome.wustl.edu	37	2	179528556	179528556	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179528556T>G	ENST00000591111.1	-	154	34489				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P12146P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAACAGGTGGGACTTCAG	0.408																																						dbGAP											0													305.0	283.0	290.0					2																	179528556		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5035A>C	2.37:g.179528556T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_PPAK_motif	p.H210P	ENST00000591111.1	37	c.629		2	.	.	.	.	.	.	.	.	.	.	T	6.811	0.518649	0.13005	.	.	ENSG00000155657	ENST00000425332	.	.	.	4.2	1.63	0.23807	.	.	.	.	.	T	0.46444	0.1393	.	.	.	0.37424	D	0.913753	.	.	.	.	.	.	T	0.40175	-0.9577	4	.	.	.	.	4.6517	0.12598	0.4208:0.0821:0.0:0.497	.	.	.	.	P	210	.	.	H	-	2	0	TTN	179236801	0.001000	0.12720	0.949000	0.38748	0.216000	0.24613	0.238000	0.18004	0.218000	0.20820	0.456000	0.33151	CAC	TTN	-	NULL	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	579	0.17	1	T	NM_133378		179528556	179528556	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000425332	ensembl	human	novel	69_37n	missense	421	11.13	53	SNP	0.654	G
TTN	7273	genome.wustl.edu	37	2	179575595	179575595	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179575595A>C	ENST00000591111.1	-	96	27502	c.27278T>G	c.(27277-27279)gTg>gGg	p.V9093G	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8166G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V9410G|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13225	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTCTCCCACCACAGCATC	0.512																																						dbGAP											0													93.0	90.0	91.0					2																	179575595		2005	4169	6174	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27278T>G	2.37:g.179575595A>C	ENSP00000465570:p.Val9093Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V8166G	ENST00000591111.1	37	c.24497		2	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189452	0.38707	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	6.06	4.9	0.64082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56016	0.1957	M	0.84082	2.675	0.80722	D	1	B	0.25351	0.124	B	0.35655	0.207	T	0.58261	-0.7667	9	0.87932	D	0	.	10.2057	0.43112	0.8666:0.0:0.1334:0.0	.	9093	Q8WZ42	TITIN_HUMAN	G	8166	ENSP00000343764:V8166G	ENSP00000343764:V8166G	V	-	2	0	TTN	179283840	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.683000	0.54663	1.103000	0.41568	0.533000	0.62120	GTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	121	0.82	1	A	NM_133378		179575595	179575595	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179594285	179594285	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179594285T>G	ENST00000591111.1	-	62	17871	c.17647A>C	c.(17647-17649)Acc>Ccc	p.T5883P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T4956P|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T6200P|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12683	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGATAAAGGTGGGGGGTTCT	0.458																																						dbGAP											0													79.0	75.0	76.0					2																	179594285		1846	4100	5946	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17647A>C	2.37:g.179594285T>G	ENSP00000465570:p.Thr5883Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T4956P	ENST00000591111.1	37	c.14866		2	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646098	0.29246	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	6.06	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66046	0.2750	L	0.48935	1.535	0.80722	D	1	B	0.27192	0.171	B	0.38842	0.283	T	0.66048	-0.6020	9	0.87932	D	0	.	12.0092	0.53278	0.0:0.067:0.0:0.933	.	5883	Q8WZ42	TITIN_HUMAN	P	4956	ENSP00000343764:T4956P	ENSP00000343764:T4956P	T	-	1	0	TTN	179302530	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.556000	0.36288	1.121000	0.41925	0.533000	0.62120	ACC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	217	0.91	2	T	NM_133378		179594285	179594285	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	158	12.64	23	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179604686	179604686	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179604686A>C	ENST00000591111.1	-	46	12547	c.12323T>G	c.(12322-12324)gTg>gGg	p.V4108G	TTN_ENST00000342175.6_Missense_Mutation_p.V4254G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.V4062G|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4425G|TTN_ENST00000359218.5_Missense_Mutation_p.V4187G			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCGACCTCCACCTTTTCAAT	0.463																																						dbGAP											0													105.0	107.0	106.0					2																	179604686		1975	4140	6115	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12323T>G	2.37:g.179604686A>C	ENSP00000465570:p.Val4108Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V4254G	ENST00000591111.1	37	c.12761		2	.	.	.	.	.	.	.	.	.	.	A	10.57	1.388382	0.25118	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.71461	-0.47;-0.56;-0.57	5.56	5.56	0.83823	.	.	.	.	.	T	0.62109	0.2401	L	0.34521	1.04	0.45056	D	0.998077	P;P;P	0.35077	0.483;0.483;0.483	B;B;B	0.33392	0.163;0.163;0.163	T	0.66654	-0.5869	9	0.87932	D	0	.	15.7153	0.77663	1.0:0.0:0.0:0.0	.	4062;4187;4254	D3DPF9;E7EQE6;E7ET18	.;.;.	G	4062;4254;4187;4062	ENSP00000434586:V4062G;ENSP00000340554:V4254G;ENSP00000352154:V4187G	ENSP00000340554:V4254G	V	-	2	0	TTN	179312931	0.815000	0.29118	1.000000	0.80357	0.446000	0.32137	5.196000	0.65136	2.127000	0.65507	0.533000	0.62120	GTG	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	210	0.47	1	A	NM_133378		179604686	179604686	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	119	25.31	41	SNP	0.998	C
TTN	7273	genome.wustl.edu	37	2	179612157	179612157	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179612157T>G	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.P4990P|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATGATGGTGGGGTATAAA	0.378																																						dbGAP											0													80.0	85.0	84.0					2																	179612157		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5509A>C	2.37:g.179612157T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P4990	ENST00000591111.1	37	c.14970		2																																																																																			TTN	-	NULL	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	248	0.00	0	T	NM_133378		179612157	179612157	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	silent	153	11.93	21	SNP	0.994	G
TTN	7273	genome.wustl.edu	37	2	179640834	179640834	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179640834A>C	ENST00000591111.1	-	28	5981	c.5757T>G	c.(5755-5757)ggT>ggG	p.G1919G	TTN_ENST00000342175.6_Silent_p.G1873G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G1919G|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.G1873G|TTN_ENST00000360870.5_Silent_p.G1919G|TTN_ENST00000589042.1_Silent_p.G1919G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.G1873G|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12756	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTATCACACCTTCAGGAT	0.463																																						dbGAP											0													206.0	208.0	207.0					2																	179640834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5757T>G	2.37:g.179640834A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1919	ENST00000591111.1	37	c.5757		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	335	0.30	1	A	NM_133378		179640834	179640834	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	266	11.92	36	SNP	0.978	C
TTN	7273	genome.wustl.edu	37	2	179641000	179641000	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179641000A>C	ENST00000591111.1	-	28	5815	c.5591T>G	c.(5590-5592)gTa>gGa	p.V1864G	TTN_ENST00000342175.6_Missense_Mutation_p.V1818G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V1864G|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V1818G|TTN_ENST00000360870.5_Missense_Mutation_p.V1864G|TTN_ENST00000589042.1_Missense_Mutation_p.V1864G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V1818G|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12701	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGCCTGTTACCCTGCAGCG	0.478																																						dbGAP											0													229.0	213.0	218.0					2																	179641000		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5591T>G	2.37:g.179641000A>C	ENSP00000465570:p.Val1864Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V1864G	ENST00000591111.1	37	c.5591		2	.	.	.	.	.	.	.	.	.	.	a	10.18	1.279947	0.23392	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.16	5.16	0.70880	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86847	0.6031	M	0.83603	2.65	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.89020	0.3434	9	0.87932	D	0	.	14.995	0.71425	1.0:0.0:0.0:0.0	.	1818;1818;1818;1864;1864	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	1864;1818;1818;1818;1818;1864	ENSP00000343764:V1864G;ENSP00000434586:V1818G;ENSP00000340554:V1818G;ENSP00000352154:V1818G;ENSP00000354117:V1864G	ENSP00000340554:V1818G	V	-	2	0	TTN	179349245	1.000000	0.71417	0.890000	0.34922	0.810000	0.45777	9.307000	0.96226	1.957000	0.56846	0.529000	0.55759	GTA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	301	0.33	1	A	NM_133378		179641000	179641000	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	206	13.08	31	SNP	0.998	C
TTN	7273	genome.wustl.edu	37	2	179641101	179641101	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179641101A>C	ENST00000591111.1	-	28	5714	c.5490T>G	c.(5488-5490)ggT>ggG	p.G1830G	TTN_ENST00000342175.6_Silent_p.G1784G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G1830G|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.G1784G|TTN_ENST00000360870.5_Silent_p.G1830G|TTN_ENST00000589042.1_Silent_p.G1830G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.G1784G|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12658					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTGTTACACCTGTAAGTG	0.458																																						dbGAP											0													152.0	155.0	154.0					2																	179641101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5490T>G	2.37:g.179641101A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1830	ENST00000591111.1	37	c.5490		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	249	0.40	1	A	NM_133378		179641101	179641101	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	181	12.08	25	SNP	0.985	C
TTN	7273	genome.wustl.edu	37	2	179641113	179641113	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:179641113A>C	ENST00000591111.1	-	28	5702	c.5478T>G	c.(5476-5478)ggT>ggG	p.G1826G	TTN_ENST00000342175.6_Silent_p.G1780G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G1826G|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.G1780G|TTN_ENST00000360870.5_Silent_p.G1826G|TTN_ENST00000589042.1_Silent_p.G1826G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.G1780G|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12654					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTAAGTGCACCTTCATGAG	0.428																																						dbGAP											0													144.0	147.0	146.0					2																	179641113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5478T>G	2.37:g.179641113A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1826	ENST00000591111.1	37	c.5478		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	251	0.40	1	A	NM_133378		179641113	179641113	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	191	12.79	28	SNP	0.993	C
TUBB1	81027	genome.wustl.edu	37	20	57598838	57598838	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:57598838T>G	ENST00000217133.1	+	4	625	c.356T>G	c.(355-357)gTg>gGg	p.V119G		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	119					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GTCCTAGAGGTGGTGAGGCAC	0.607																																						dbGAP											0													92.0	100.0	97.0					20																	57598838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.356T>G	20.37:g.57598838T>G	ENSP00000217133:p.Val119Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.V119G	ENST00000217133.1	37	c.356	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690156	0.29962	.	.	ENSG00000101162	ENST00000217133	T	0.69685	-0.42	5.39	0.521	0.17046	Tubulin/FtsZ, GTPase domain (4);	0.303746	0.35235	N	0.003359	T	0.74291	0.3697	H	0.95982	3.75	0.80722	D	1	P	0.41214	0.742	B	0.40636	0.335	T	0.74993	-0.3474	10	0.87932	D	0	.	8.7764	0.34765	0.0:0.308:0.0:0.692	.	119	Q9H4B7	TBB1_HUMAN	G	119	ENSP00000217133:V119G	ENSP00000217133:V119G	V	+	2	0	TUBB1	57032233	1.000000	0.71417	0.042000	0.18584	0.042000	0.13812	1.897000	0.39799	-0.171000	0.10797	-0.256000	0.11100	GTG	TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin	ENSG00000101162		0.607	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	147	0.00	0	T	NM_030773		57598838	57598838	+1	no_errors	ENST00000217133	ensembl	human	known	69_37n	missense	122	18.67	28	SNP	1.000	G
TUBB1	81027	genome.wustl.edu	37	20	57599139	57599139	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:57599139A>C	ENST00000217133.1	+	4	926	c.657A>C	c.(655-657)acA>acC	p.T219T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	219					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGCTGACGACACCCACCTATG	0.547																																						dbGAP											0													142.0	123.0	130.0					20																	57599139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.657A>C	20.37:g.57599139A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.T219	ENST00000217133.1	37	c.657	CCDS13475.1	20																																																																																			TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	ENSG00000101162		0.547	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	156	0.64	1	A	NM_030773		57599139	57599139	+1	no_errors	ENST00000217133	ensembl	human	known	69_37n	silent	151	16.57	30	SNP	0.940	C
TUFT1	7286	genome.wustl.edu	37	1	151534602	151534602	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:151534602T>G	ENST00000368849.3	+	2	158	c.96T>G	c.(94-96)ggT>ggG	p.G32G	TUFT1_ENST00000538902.1_Silent_p.G51G|RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000368848.2_Intron|TUFT1_ENST00000392712.3_Intron	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	32					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTCCAGGGTGAACTGACAG	0.517																																						dbGAP											0													199.0	164.0	176.0					1																	151534602		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.96T>G	1.37:g.151534602T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Silent	SNP	superfamily_Prefoldin	p.G51	ENST00000368849.3	37	c.153	CCDS1000.1	1																																																																																			TUFT1	-	NULL	ENSG00000143367		0.517	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	107	0.00	0	T	NM_020127		151534602	151534602	+1	no_errors	ENST00000538902	ensembl	human	known	69_37n	silent	213	13.41	33	SNP	0.970	G
TULP4	56995	genome.wustl.edu	37	6	158850769	158850769	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:158850769T>G	ENST00000367097.3	+	3	1740	c.383T>G	c.(382-384)gTg>gGg	p.V128G	TULP4_ENST00000367094.2_Splice_Site_p.V128G	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	128					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTCCCCAAGGTGAGTGATTTC	0.408																																						dbGAP											0													256.0	219.0	232.0					6																	158850769		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.382-1T>G	6.37:g.158850769T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V128G	ENST00000367097.3	37	c.383	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530872	0.85706	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.21734	1.99;1.99	5.48	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.89785	3.06	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.78314	0.991;0.985;0.991	T	0.53500	-0.8430	10	0.87932	D	0	-23.5739	11.6175	0.51098	0.0:0.0714:0.0:0.9286	.	128;128;128	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	G	128	ENSP00000356064:V128G;ENSP00000356061:V128G	ENSP00000356061:V128G	V	+	2	0	TULP4	158770757	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.946000	0.87746	2.086000	0.62901	0.533000	0.62120	GTG	TULP4	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000130338		0.408	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	220	0.45	1	T	NM_020245	Missense_Mutation	158850769	158850769	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	183	14.02	30	SNP	1.000	G
TULP4	56995	genome.wustl.edu	37	6	158922909	158922909	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:158922909T>G	ENST00000367097.3	+	13	3571	c.2214T>G	c.(2212-2214)ggT>ggG	p.G738G	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	738					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACATGCAGGTGACAGTGCCA	0.557																																						dbGAP											0													196.0	176.0	183.0					6																	158922909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2214T>G	6.37:g.158922909T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G738	ENST00000367097.3	37	c.2214	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.557	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	166	0.00	0	T	NM_020245		158922909	158922909	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	silent	83	19.42	20	SNP	0.979	G
TXN2	25828	genome.wustl.edu	37	22	36872820	36872820	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:36872820A>C	ENST00000216185.2	-	3	813	c.347T>G	c.(346-348)gTg>gGg	p.V116G	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_Missense_Mutation_p.V14G|TXN2_ENST00000403313.1_Missense_Mutation_p.V116G			Q99757	THIOM_HUMAN	thioredoxin 2	116	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						ATCAATATCCACCTTGGCCAT	0.557																																						dbGAP											0													308.0	235.0	260.0					22																	36872820		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.347T>G	22.37:g.36872820A>C	ENSP00000216185:p.Val116Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin	p.V116G	ENST00000216185.2	37	c.347	CCDS13928.1	22	.	.	.	.	.	.	.	.	.	.	a	25.1	4.598712	0.87055	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.34275	1.37;1.37	5.19	5.19	0.71726	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.062074	0.64402	D	0.000004	T	0.71953	0.3401	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82224	-0.0563	10	0.87932	D	0	.	15.0566	0.71917	1.0:0.0:0.0:0.0	.	116	Q99757	THIOM_HUMAN	G	116	ENSP00000216185:V116G;ENSP00000385393:V116G	ENSP00000216185:V116G	V	-	2	0	TXN2	35202766	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.098000	0.94202	1.968000	0.57251	0.375000	0.23000	GTG	TXN2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Thioredoxin	ENSG00000100348		0.557	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN2	HGNC	protein_coding	OTTHUMT00000319016.1	171	0.00	0	A	NM_012473		36872820	36872820	-1	no_errors	ENST00000216185	ensembl	human	known	69_37n	missense	94	24.80	31	SNP	1.000	C
TXNDC11	51061	genome.wustl.edu	37	16	11824565	11824565	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:11824565A>C	ENST00000356957.3	-	4	742	c.635T>G	c.(634-636)gTg>gGg	p.V212G	TXNDC11_ENST00000283033.5_Missense_Mutation_p.V212G			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	212	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGTTTCATCACCCGGCGGAC	0.368																																						dbGAP											0													113.0	112.0	112.0					16																	11824565		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.635T>G	16.37:g.11824565A>C	ENSP00000349439:p.Val212Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.V212G	ENST00000356957.3	37	c.635		16	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929482	0.73327	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.36878	1.23;1.23	4.89	3.77	0.43336	Thioredoxin-like fold (3);	0.214824	0.39544	N	0.001336	T	0.46483	0.1395	L	0.55481	1.735	0.80722	D	1	P;D	0.60160	0.858;0.987	P;P	0.56960	0.642;0.81	T	0.43343	-0.9397	10	0.72032	D	0.01	-11.6862	10.1296	0.42672	0.9198:0.0:0.0802:0.0	.	212;212	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	G	212;212;155	ENSP00000349439:V212G;ENSP00000283033:V212G	ENSP00000283033:V212G	V	-	2	0	TXNDC11	11732066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	0.839000	0.34971	0.482000	0.46254	GTG	TXNDC11	-	superfamily_Thioredoxin-like_fold	ENSG00000153066		0.368	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	108	0.00	0	A	NM_015914		11824565	11824565	-1	no_errors	ENST00000356957	ensembl	human	known	69_37n	missense	114	25.49	39	SNP	1.000	C
TXNDC2	84203	genome.wustl.edu	37	18	9887412	9887412	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:9887412T>G	ENST00000306084.6	+	2	1135	c.936T>G	c.(934-936)ggT>ggG	p.G312G	TXNDC2_ENST00000357775.5_Silent_p.G245G|TXNDC2_ENST00000536353.2_Nonstop_Mutation_p.*111G	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	312	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAAGGAGGGTGACATCCCCA	0.597																																						dbGAP											0													122.0	119.0	120.0					18																	9887412		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.936T>G	18.37:g.9887412T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Nonstop_Mutation	SNP	NULL	p.*111G	ENST00000306084.6	37	c.331	CCDS42414.1	18																																																																																			TXNDC2	-	NULL	ENSG00000168454		0.597	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	452	0.44	2	T			9887412	9887412	+1	no_errors	ENST00000536353	ensembl	human	putative	69_37n	nonstop	484	10.81	59	SNP	0.000	G
TYRP1	7306	genome.wustl.edu	37	9	12695809	12695809	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:12695809A>C	ENST00000388918.5	+	3	809	c.680A>C	c.(679-681)cAc>cCc	p.H227P	TYRP1_ENST00000381136.2_Silent_p.P5P|TYRP1_ENST00000381137.2_Silent_p.P5P	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	227					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CACAGGTACCACCTCCTGCGT	0.433									Oculocutaneous Albinism																													dbGAP											0													73.0	76.0	75.0					9																	12695809		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.680A>C	9.37:g.12695809A>C	ENSP00000373570:p.His227Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.H227P	ENST00000388918.5	37	c.680	CCDS34990.1	9	.	.	.	.	.	.	.	.	.	.	A	18.09	3.547372	0.65311	.	.	ENSG00000107165	ENST00000388918	D	0.98296	-4.85	5.38	5.38	0.77491	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99663	1.0994	9	.	.	.	-22.5652	15.6856	0.77409	1.0:0.0:0.0:0.0	.	227	P17643	TYRP1_HUMAN	P	227	ENSP00000373570:H227P	.	H	+	2	0	TYRP1	12685809	1.000000	0.71417	0.948000	0.38648	0.541000	0.35023	8.880000	0.92407	2.176000	0.68965	0.383000	0.25322	CAC	TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	ENSG00000107165		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	206	0.00	0	A	NM_000550		12695809	12695809	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	missense	138	19.77	34	SNP	1.000	C
UBA1	7317	genome.wustl.edu	37	X	47065731	47065731	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:47065731T>G	ENST00000335972.6	+	16	2009	c.1826T>G	c.(1825-1827)gTg>gGg	p.V609G	UBA1_ENST00000377269.3_5'Flank|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Missense_Mutation_p.V609G|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	609	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATGTGCAGGTGGTGATCCCC	0.567																																						dbGAP											0													96.0	61.0	73.0					X																	47065731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1826T>G	X.37:g.47065731T>G	ENSP00000338413:p.Val609Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.V609G	ENST00000335972.6	37	c.1826	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329354	0.81690	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.53857	0.6;0.6	4.92	4.92	0.64577	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.059190	0.64402	D	0.000003	T	0.80363	0.4609	H	0.97415	4	0.80722	D	1	D	0.59357	0.985	D	0.68483	0.958	D	0.86007	0.1498	10	0.87932	D	0	-17.9926	11.3934	0.49827	0.0:0.0:0.0:1.0	.	609	P22314	UBA1_HUMAN	G	609	ENSP00000366568:V609G;ENSP00000338413:V609G	ENSP00000338413:V609G	V	+	2	0	UBA1	46950675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.080000	0.50112	1.741000	0.51731	0.483000	0.47432	GTG	UBA1	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.567	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	56	0.00	0	T	NM_003334		47065731	47065731	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	G
UBA1	7317	genome.wustl.edu	37	X	47070558	47070558	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:47070558A>C	ENST00000335972.6	+	20	2581	c.2398A>C	c.(2398-2400)Acc>Ccc	p.T800P	UBA1_ENST00000377269.3_Missense_Mutation_p.T248P|UBA1_ENST00000377351.4_Missense_Mutation_p.T800P	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	800					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCCGAATTCACCCCCAAGTC	0.602																																						dbGAP											0													119.0	88.0	98.0					X																	47070558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2398A>C	X.37:g.47070558A>C	ENSP00000338413:p.Thr800Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.T800P	ENST00000335972.6	37	c.2398	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843799	0.51164	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.44881	0.91;0.91;0.91	4.66	4.66	0.58398	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.091866	0.85682	D	0.000000	T	0.61236	0.2331	M	0.86268	2.805	0.48040	D	0.999574	P;P	0.45428	0.858;0.494	P;B	0.55112	0.769;0.396	T	0.65611	-0.6126	10	0.48119	T	0.1	-16.7873	12.3807	0.55305	1.0:0.0:0.0:0.0	.	248;800	Q5JRR6;P22314	.;UBA1_HUMAN	P	800;800;248	ENSP00000366568:T800P;ENSP00000338413:T800P;ENSP00000366481:T248P	ENSP00000338413:T800P	T	+	1	0	UBA1	46955502	0.987000	0.35691	1.000000	0.80357	0.982000	0.71751	2.880000	0.48530	1.837000	0.53436	0.430000	0.28490	ACC	UBA1	-	pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	118	0.00	0	A	NM_003334		47070558	47070558	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	missense	168	18.05	37	SNP	1.000	C
UBA7	7318	genome.wustl.edu	37	3	49849909	49849909	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:49849909A>C	ENST00000333486.3	-	6	784	c.626T>G	c.(625-627)gTg>gGg	p.V209G	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	209	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGAGAAAGTCACCAAGTCTCC	0.562																																						dbGAP											0													86.0	81.0	83.0					3																	49849909		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.626T>G	3.37:g.49849909A>C	ENSP00000333266:p.Val209Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.V209G	ENST00000333486.3	37	c.626	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794821	0.70452	.	.	ENSG00000182179	ENST00000333486	T	0.48836	0.8	5.46	4.28	0.50868	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.060846	0.64402	D	0.000004	T	0.74114	0.3674	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.80892	-0.1179	10	0.87932	D	0	-16.5273	11.2238	0.48871	0.9243:0.0:0.0757:0.0	.	209	P41226	UBA7_HUMAN	G	209	ENSP00000333266:V209G	ENSP00000333266:V209G	V	-	2	0	UBA7	49824913	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.126000	0.77201	2.202000	0.70862	0.379000	0.24179	GTG	UBA7	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.562	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	43	0.00	0	A	NM_003335		49849909	49849909	-1	no_errors	ENST00000333486	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	C
UBAP2	55833	genome.wustl.edu	37	9	33948440	33948440	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:33948440T>G	ENST00000379238.1	-	13	1319	c.1202A>C	c.(1201-1203)cAc>cCc	p.H401P	UBAP2_ENST00000379239.4_Missense_Mutation_p.H134P|UBAP2_ENST00000418786.2_Missense_Mutation_p.H348P|UBAP2_ENST00000360802.1_Missense_Mutation_p.H401P|UBAP2_ENST00000449054.1_Missense_Mutation_p.H401P|UBAP2_ENST00000539807.1_Missense_Mutation_p.H156P|UBAP2_ENST00000379225.1_Missense_Mutation_p.H34P					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AGTTGTAGGGTGACTTGTACT	0.493																																						dbGAP											0													367.0	325.0	339.0					9																	33948440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1202A>C	9.37:g.33948440T>G	ENSP00000368540:p.His401Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.H401P	ENST00000379238.1	37	c.1202	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278891	0.23307	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T;T	0.27104	2.92;2.92;2.92;2.69;2.69;2.48;2.12;1.69	6.17	4.33	0.51752	.	0.751436	0.13749	N	0.365435	T	0.07503	0.0189	N	0.00538	-1.39	0.09310	N	0.999997	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B;B	0.06405	0.0;0.002;0.0;0.0;0.0;0.0;0.001;0.001	T	0.32613	-0.9900	10	0.15952	T	0.53	-0.3948	10.0642	0.42292	0.0688:0.0:0.7896:0.1416	.	348;326;156;134;310;34;326;401	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	P	401;401;401;310;319;134;156;348;34;348;255	ENSP00000368540:H401P;ENSP00000416932:H401P;ENSP00000354039:H401P;ENSP00000368541:H134P;ENSP00000439329:H156P;ENSP00000404436:H348P;ENSP00000368527:H34P;ENSP00000414800:H348P	ENSP00000354039:H401P	H	-	2	0	UBAP2	33938440	0.970000	0.33590	0.340000	0.25575	0.696000	0.40369	3.505000	0.53356	0.924000	0.37069	-0.213000	0.12676	CAC	UBAP2	-	NULL	ENSG00000137073		0.493	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	202	0.49	1	T	NM_018449		33948440	33948440	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	missense	141	17.54	30	SNP	0.467	G
UBAP2L	9898	genome.wustl.edu	37	1	154227786	154227786	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154227786A>C	ENST00000361546.2	+	16	2110	c.2068A>C	c.(2068-2070)Acc>Ccc	p.T690P	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.T701P|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T690P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.T690P			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	690					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAATACTACCACCACACAACA	0.493																																						dbGAP											0													142.0	131.0	135.0					1																	154227786		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2068A>C	1.37:g.154227786A>C	ENSP00000355343:p.Thr690Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T690P	ENST00000361546.2	37	c.2068	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.03|13.03	2.116463|2.116463	0.37339|0.37339	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.11821	.|2.74;2.74;2.78;2.74	5.72|5.72	3.43|3.43	0.39272|0.39272	.|.	.|0.285556	.|0.37219	.|N	.|0.002195	T|T	0.01976|0.01976	0.0062|0.0062	N|N	0.08118|0.08118	0|0	0.32624|0.32624	N|N	0.522999|0.522999	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001;0.001	T|T	0.38564|0.38564	-0.9655|-0.9655	5|10	.|0.41790	.|T	.|0.15	-7.4326|-7.4326	5.188|5.188	0.15195|0.15195	0.6393:0.145:0.2157:0.0|0.6393:0.145:0.2157:0.0	.|.	.|604;701;683;690;690	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.|.;.;.;.;UBP2L_HUMAN	P|P	20|690;690;186;186;701;690	.|ENSP00000345308:T690P;ENSP00000389445:T690P;ENSP00000271877:T701P;ENSP00000355343:T690P	.|ENSP00000271877:T701P	H|T	+|+	2|1	0|0	UBAP2L|UBAP2L	152494410|152494410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.438000|1.438000	0.35002|0.35002	0.981000|0.981000	0.38548|0.38548	-0.274000|-0.274000	0.10170|0.10170	CAC|ACC	UBAP2L	-	NULL	ENSG00000143569		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	161	0.62	1	A	NM_014847		154227786	154227786	+1	no_errors	ENST00000361546	ensembl	human	known	69_37n	missense	196	13.27	30	SNP	1.000	C
UBASH3B	84959	genome.wustl.edu	37	11	122653835	122653835	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:122653835A>C	ENST00000284273.5	+	5	1051	c.676A>C	c.(676-678)Acc>Ccc	p.T226P		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	226					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCACCTACCCACCCTAGAGAA	0.483																																						dbGAP											0													233.0	213.0	220.0					11																	122653835		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.676A>C	11.37:g.122653835A>C	ENSP00000284273:p.Thr226Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.T226P	ENST00000284273.5	37	c.676	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501540	0.44455	.	.	ENSG00000154127	ENST00000284273	T	0.06371	3.31	5.16	5.16	0.70880	.	0.147981	0.64402	D	0.000009	T	0.06600	0.0169	N	0.19112	0.55	0.40937	D	0.984435	B	0.23854	0.092	B	0.30105	0.111	T	0.35748	-0.9776	10	0.52906	T	0.07	-10.3409	15.024	0.71653	1.0:0.0:0.0:0.0	.	226	Q8TF42	UBS3B_HUMAN	P	226	ENSP00000284273:T226P	ENSP00000284273:T226P	T	+	1	0	UBASH3B	122159045	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	2.143000	0.42187	1.956000	0.56807	0.528000	0.53228	ACC	UBASH3B	-	NULL	ENSG00000154127		0.483	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	149	0.00	0	A	NM_032873		122653835	122653835	+1	no_errors	ENST00000284273	ensembl	human	known	69_37n	missense	80	21.90	23	SNP	1.000	C
UBD	10537	genome.wustl.edu	37	6	29523867	29523867	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29523867A>C	ENST00000377050.4	-	2	511	c.288T>G	c.(286-288)ggT>ggG	p.G96G	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	96	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTGCCTCATCACCTGACTCCA	0.512																																						dbGAP											0													87.0	88.0	88.0					6																	29523867		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.288T>G	6.37:g.29523867A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup	p.G96	ENST00000377050.4	37	c.288	CCDS4662.1	6																																																																																			UBD	-	smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000213886		0.512	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBD	HGNC	protein_coding	OTTHUMT00000076628.3	173	0.57	1	A			29523867	29523867	-1	no_errors	ENST00000377050	ensembl	human	known	69_37n	silent	104	14.75	18	SNP	0.000	C
UBE2Q1	55585	genome.wustl.edu	37	1	154524698	154524698	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:154524698A>C	ENST00000292211.4	-	8	955				UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1						embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCTGGTTCCACCTCAGGAGC	0.572																																						dbGAP											0													46.0	51.0	49.0					1																	154524698		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.876-39T>G	1.37:g.154524698A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	RNA	SNP	-	NULL	ENST00000292211.4	37	NULL	CCDS1069.1	1																																																																																			UBE2Q1	-	-	ENSG00000160714		0.572	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	117	0.00	0	A	NM_017582		154524698	154524698	-1	no_errors	ENST00000474181	ensembl	human	known	69_37n	rna	143	14.37	24	SNP	0.000	C
UBE3B	89910	genome.wustl.edu	37	12	109926431	109926431	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:109926431A>C	ENST00000342494.3	+	7	1097	c.502A>C	c.(502-504)Acc>Ccc	p.T168P	UBE3B_ENST00000280774.5_Missense_Mutation_p.T168P|UBE3B_ENST00000537063.1_Missense_Mutation_p.T168P|UBE3B_ENST00000536398.1_Missense_Mutation_p.T168P|UBE3B_ENST00000340074.5_Missense_Mutation_p.T168P|UBE3B_ENST00000540230.1_Missense_Mutation_p.T168P|UBE3B_ENST00000434735.2_Missense_Mutation_p.T168P	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GATGCTTGTCACCTTCACAGA	0.458																																						dbGAP											0													317.0	302.0	307.0					12																	109926431		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.502A>C	12.37:g.109926431A>C	ENSP00000340596:p.Thr168Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.T168P	ENST00000342494.3	37	c.502	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	A	29.5	5.011451	0.93346	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	T;T;T;T;T;T;T;T	0.66995	1.9;1.9;-0.24;1.9;1.9;-0.24;-0.24;1.9	5.31	5.31	0.75309	.	0.134936	0.64402	D	0.000002	T	0.75481	0.3855	L	0.55481	1.735	0.80722	D	1	P;D;D	0.71674	0.863;0.998;0.998	P;P;P	0.60541	0.451;0.801;0.876	T	0.77728	-0.2479	10	0.62326	D	0.03	-3.4589	14.5852	0.68320	1.0:0.0:0.0:0.0	.	168;168;168	Q7Z3V4;Q7Z3V4-3;F5H6D6	UBE3B_HUMAN;.;.	P	168	ENSP00000391529:T168P;ENSP00000280774:T168P;ENSP00000440585:T168P;ENSP00000443131:T168P;ENSP00000340596:T168P;ENSP00000342614:T168P;ENSP00000443565:T168P;ENSP00000437694:T168P	ENSP00000280774:T168P	T	+	1	0	UBE3B	108410814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.245000	0.89825	2.222000	0.72286	0.533000	0.62120	ACC	UBE3B	-	NULL	ENSG00000151148		0.458	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	339	0.29	1	A	NM_183415		109926431	109926431	+1	no_errors	ENST00000342494	ensembl	human	known	69_37n	missense	227	12.02	31	SNP	1.000	C
UBE4B	10277	genome.wustl.edu	37	1	10132172	10132172	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:10132172T>C	ENST00000253251.8	+	2	950	c.111T>C	c.(109-111)ccT>ccC	p.P37P	UBE4B_ENST00000343090.6_Silent_p.P37P|UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Silent_p.P37P					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGGAGAACCCTCCGGGGCCTC	0.602																																						dbGAP											0													63.0	63.0	63.0					1																	10132172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.111T>C	1.37:g.10132172T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S15P	ENST00000253251.8	37	c.43	CCDS110.1	1																																																																																			UBE4B	-	NULL	ENSG00000130939		0.602	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	85	0.00	0	T	NM_006048		10132172	10132172	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495077	ensembl	human	putative	69_37n	missense	116	13.97	19	SNP	0.955	C
UBN2	254048	genome.wustl.edu	37	7	138968831	138968831	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:138968831A>C	ENST00000473989.3	+	15	3180	c.3180A>C	c.(3178-3180)tcA>tcC	p.S1060S	UBN2_ENST00000288561.8_Silent_p.S977S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1060	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTTCTGCCTCACCCAAGCCCT	0.517																																						dbGAP											0													96.0	104.0	102.0					7																	138968831		2017	4169	6186	-	-	-	SO:0001819	synonymous_variant	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3180A>C	7.37:g.138968831A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	NULL	p.S1060	ENST00000473989.3	37	c.3180	CCDS43655.2	7																																																																																			UBN2	-	NULL	ENSG00000157741		0.517	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	236	0.00	0	A	NM_173569		138968831	138968831	+1	no_errors	ENST00000473989	ensembl	human	known	69_37n	silent	310	13.30	48	SNP	1.000	C
UBN2	254048	genome.wustl.edu	37	7	138969024	138969024	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:138969024A>C	ENST00000473989.3	+	15	3373	c.3373A>C	c.(3373-3375)Acc>Ccc	p.T1125P	UBN2_ENST00000288561.8_Missense_Mutation_p.T1042P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1125	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACAGTCTCCCACCTTGAATTT	0.493																																						dbGAP											0													76.0	78.0	77.0					7																	138969024		1995	4173	6168	-	-	-	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3373A>C	7.37:g.138969024A>C	ENSP00000418648:p.Thr1125Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.T1125P	ENST00000473989.3	37	c.3373	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747714	0.49257	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35048	1.34;1.33	5.51	5.51	0.81932	.	0.069654	0.64402	D	0.000012	T	0.49406	0.1555	L	0.36672	1.1	0.42761	D	0.993809	D	0.71674	0.998	D	0.75484	0.986	T	0.38457	-0.9660	10	0.28530	T	0.3	-1.9826	15.928	0.79635	1.0:0.0:0.0:0.0	.	1125	Q6ZU65	UBN2_HUMAN	P	1125;1042	ENSP00000418648:T1125P;ENSP00000288561:T1042P	ENSP00000288561:T1042P	T	+	1	0	UBN2	138619564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.361000	0.73070	2.221000	0.72209	0.455000	0.32223	ACC	UBN2	-	NULL	ENSG00000157741		0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	140	0.00	0	A	NM_173569		138969024	138969024	+1	no_errors	ENST00000473989	ensembl	human	known	69_37n	missense	166	15.23	30	SNP	1.000	C
UBR2	23304	genome.wustl.edu	37	6	42626013	42626013	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:42626013A>C	ENST00000372899.1	+	28	3276	c.3018A>C	c.(3016-3018)tcA>tcC	p.S1006S	UBR2_ENST00000372883.3_Silent_p.S510S|UBR2_ENST00000372901.1_Silent_p.S1006S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1006					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGGAGAGTTCACCTACCAGTC	0.328																																						dbGAP											0													56.0	64.0	62.0					6																	42626013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3018A>C	6.37:g.42626013A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1006	ENST00000372899.1	37	c.3018	CCDS4870.1	6																																																																																			UBR2	-	NULL	ENSG00000024048		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	162	0.61	1	A	NM_015255		42626013	42626013	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	silent	102	26.62	37	SNP	0.995	C
UBR4	23352	genome.wustl.edu	37	1	19439145	19439145	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19439145T>G	ENST00000375254.3	-	78	11701	c.11674A>C	c.(11674-11676)Acc>Ccc	p.T3892P	UBR4_ENST00000375267.2_Missense_Mutation_p.T3892P|UBR4_ENST00000375217.2_Missense_Mutation_p.T3885P|UBR4_ENST00000375226.2_Missense_Mutation_p.T3868P|UBR4_ENST00000375218.3_3'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3892					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGGGTTGGTGGCCAGGGCC	0.592																																						dbGAP											0													101.0	107.0	105.0					1																	19439145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11674A>C	1.37:g.19439145T>G	ENSP00000364403:p.Thr3892Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T3892P	ENST00000375254.3	37	c.11674	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004621	0.74932	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.24538	1.85;1.85;1.87;1.87	5.85	4.7	0.59300	.	0.048598	0.85682	D	0.000000	T	0.22781	0.0550	L	0.46157	1.445	0.80722	D	1	B	0.32968	0.392	B	0.31191	0.125	T	0.02464	-1.1155	10	0.48119	T	0.1	.	10.99	0.47543	0.1527:0.0:0.0:0.8472	.	3892	Q5T4S7	UBR4_HUMAN	P	3892;3892;3885;3868	ENSP00000364403:T3892P;ENSP00000364416:T3892P;ENSP00000364365:T3885P;ENSP00000364374:T3868P	ENSP00000364365:T3885P	T	-	1	0	UBR4	19311732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.769000	0.68865	0.982000	0.38575	0.533000	0.62120	ACC	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.592	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	121	0.81	1	T	NM_020765		19439145	19439145	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	100	18.70	23	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19472303	19472303	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19472303T>G	ENST00000375254.3	-	53	7956	c.7929A>C	c.(7927-7929)gcA>gcC	p.A2643A	UBR4_ENST00000375267.2_Silent_p.A2643A|UBR4_ENST00000375217.2_Silent_p.A2671A|UBR4_ENST00000375226.2_Silent_p.A2654A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2643					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGGCAGGTGCCAAGAAGG	0.453																																						dbGAP											0													147.0	130.0	136.0					1																	19472303		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7929A>C	1.37:g.19472303T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.A2643	ENST00000375254.3	37	c.7929	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.453	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	119	0.83	1	T	NM_020765		19472303	19472303	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	65	18.75	15	SNP	0.817	G
UBR4	23352	genome.wustl.edu	37	1	19478891	19478891	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19478891A>C	ENST00000375254.3	-	47	6939	c.6912T>G	c.(6910-6912)ggT>ggG	p.G2304G	UBR4_ENST00000375267.2_Silent_p.G2304G|UBR4_ENST00000375217.2_Silent_p.G2304G|UBR4_ENST00000375226.2_Silent_p.G2304G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2304					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTCGTTACCACCAAACTCCA	0.493																																						dbGAP											0													206.0	197.0	200.0					1																	19478891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6912T>G	1.37:g.19478891A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G2304	ENST00000375254.3	37	c.6912	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	271	0.00	0	A	NM_020765		19478891	19478891	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	198	11.21	25	SNP	0.954	C
UBR4	23352	genome.wustl.edu	37	1	19480424	19480424	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19480424A>C	ENST00000375254.3	-	45	6495	c.6468T>G	c.(6466-6468)ggT>ggG	p.G2156G	UBR4_ENST00000375267.2_Silent_p.G2156G|UBR4_ENST00000375217.2_Silent_p.G2156G|UBR4_ENST00000375226.2_Silent_p.G2156G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2156					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTACTGCCACCATTGGAAC	0.493																																						dbGAP											0													74.0	69.0	71.0					1																	19480424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6468T>G	1.37:g.19480424A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G2156	ENST00000375254.3	37	c.6468	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	200	0.00	0	A	NM_020765		19480424	19480424	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	141	19.21	34	SNP	1.000	C
UBR4	23352	genome.wustl.edu	37	1	19484465	19484465	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19484465A>C	ENST00000375254.3	-	40	5631	c.5604T>G	c.(5602-5604)ggT>ggG	p.G1868G	UBR4_ENST00000375267.2_Silent_p.G1868G|UBR4_ENST00000375217.2_Silent_p.G1868G|UBR4_ENST00000375226.2_Silent_p.G1868G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1868					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCAAAGGCACCTTCCTGGG	0.517																																						dbGAP											0													165.0	147.0	153.0					1																	19484465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5604T>G	1.37:g.19484465A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G1868	ENST00000375254.3	37	c.5604	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	230	0.00	0	A	NM_020765		19484465	19484465	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	145	10.91	18	SNP	1.000	C
UBR4	23352	genome.wustl.edu	37	1	19499512	19499512	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:19499512T>G	ENST00000375254.3	-	25	3394	c.3367A>C	c.(3367-3369)Acc>Ccc	p.T1123P	UBR4_ENST00000375267.2_Missense_Mutation_p.T1123P|UBR4_ENST00000375217.2_Missense_Mutation_p.T1123P|UBR4_ENST00000375226.2_Missense_Mutation_p.T1123P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCATCAAGGGTGTAGATGGAC	0.423																																						dbGAP											0													88.0	81.0	83.0					1																	19499512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3367A>C	1.37:g.19499512T>G	ENSP00000364403:p.Thr1123Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T1123P	ENST00000375254.3	37	c.3367	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416204	0.83449	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	N	0.22421	0.69	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.59461	-0.7450	10	0.56958	D	0.05	.	15.7237	0.77736	0.0:0.0:0.0:1.0	.	1123	Q5T4S7	UBR4_HUMAN	P	1123;1123;1123;1123;339	ENSP00000364403:T1123P;ENSP00000364416:T1123P;ENSP00000364365:T1123P;ENSP00000364374:T1123P	ENSP00000364365:T1123P	T	-	1	0	UBR4	19372099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.533000	0.62120	ACC	UBR4	-	NULL	ENSG00000127481		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	180	0.55	1	T	NM_020765		19499512	19499512	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	158	11.24	20	SNP	1.000	G
UBR5	51366	genome.wustl.edu	37	8	103307710	103307710	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:103307710A>C	ENST00000520539.1	-	30	4469	c.3863T>G	c.(3862-3864)gTg>gGg	p.V1288G	UBR5_ENST00000220959.4_Missense_Mutation_p.V1288G|UBR5_ENST00000521922.1_Missense_Mutation_p.V1282G|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1288					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACAATGCTCCACCGTCTGCCT	0.478																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													116.0	106.0	109.0					8																	103307710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3863T>G	8.37:g.103307710A>C	ENSP00000429084:p.Val1288Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.V1288G	ENST00000520539.1	37	c.3863	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406964	0.83230	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49432	0.78;0.78;0.78	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	L	0.54323	1.7	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.64595	0.927;0.927	T	0.66337	-0.5949	10	0.87932	D	0	.	15.8483	0.78907	1.0:0.0:0.0:0.0	.	1282;1288	E7EMW7;O95071	.;UBR5_HUMAN	G	1288;1288;1282	ENSP00000429084:V1288G;ENSP00000220959:V1288G;ENSP00000427819:V1282G	ENSP00000220959:V1288G	V	-	2	0	UBR5	103376886	1.000000	0.71417	0.960000	0.40013	0.918000	0.54935	9.229000	0.95273	2.203000	0.70933	0.477000	0.44152	GTG	UBR5	-	NULL	ENSG00000104517		0.478	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	149	0.66	1	A	NM_015902		103307710	103307710	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	115	12.21	16	SNP	1.000	C
UGT1A10	54575	genome.wustl.edu	37	2	234545957	234545957	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:234545957A>C	ENST00000344644.5	+	1	858	c.789A>C	c.(787-789)aaA>aaC	p.K263N	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.K263N	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	263					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	ACTATCCCAAACCCGTGATGC	0.438																																						dbGAP											0													230.0	225.0	227.0					2																	234545957		2203	4298	6501	-	-	-	SO:0001583	missense	0			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.789A>C	2.37:g.234545957A>C	ENSP00000343838:p.Lys263Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K263N	ENST00000344644.5	37	c.789	CCDS33403.1	2	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783137	0.49891	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.60797	0.16;0.16	3.32	-0.469	0.12142	.	.	.	.	.	T	0.64170	0.2574	M	0.73217	2.22	0.24328	N	0.995017	P;P	0.50528	0.851;0.936	P;P	0.54174	0.744;0.744	T	0.56492	-0.7970	9	0.87932	D	0	.	8.0793	0.30735	0.7219:0.0:0.2781:0.0	.	263;263	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	N	263	ENSP00000343838:K263N;ENSP00000362544:K263N	ENSP00000343838:K263N	K	+	3	2	UGT1A10	234210696	0.000000	0.05858	0.942000	0.38095	0.848000	0.48234	-0.634000	0.05477	0.061000	0.16311	0.333000	0.21579	AAA	UGT1A10	-	pfam_UDP_glucos_trans	ENSG00000242515		0.438	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	HGNC	protein_coding	OTTHUMT00000130986.1	612	0.00	0	A	NM_019075		234545957	234545957	+1	no_errors	ENST00000344644	ensembl	human	known	69_37n	missense	425	11.04	53	SNP	0.664	C
UGT1A4	54657	genome.wustl.edu	37	2	234627957	234627957	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:234627957A>C	ENST00000373409.3	+	1	534	c.491A>C	c.(490-492)tAc>tCc	p.Y164S	UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	164					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTGGCTAAGTACCTGTCGATT	0.463																																					Melanoma(99;1011 1962 13201 26492)	dbGAP											0													180.0	177.0	178.0					2																	234627957		2203	4300	6503	-	-	-	SO:0001583	missense	0			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.491A>C	2.37:g.234627957A>C	ENSP00000362508:p.Tyr164Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Y164S	ENST00000373409.3	37	c.491	CCDS33405.1	2	.	.	.	.	.	.	.	.	.	.	A	9.920	1.212031	0.22289	.	.	ENSG00000244474	ENST00000373409	T	0.61859	0.07	4.16	1.46	0.22682	.	.	.	.	.	T	0.74351	0.3705	M	0.83692	2.655	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61955	-0.6956	9	0.44086	T	0.13	.	10.2413	0.43314	0.6816:0.3184:0.0:0.0	.	164;164	B8K288;P22310	.;UD14_HUMAN	S	164	ENSP00000362508:Y164S	ENSP00000362508:Y164S	Y	+	2	0	UGT1A4	234292696	0.002000	0.14202	0.015000	0.15790	0.016000	0.09150	1.645000	0.37238	0.441000	0.26529	-0.619000	0.04042	TAC	UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.463	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130984.1	266	0.00	0	A	NM_007120		234627957	234627957	+1	no_errors	ENST00000373409	ensembl	human	known	69_37n	missense	232	10.00	26	SNP	0.001	C
UGT1A1	54658	genome.wustl.edu	37	2	234669546	234669546	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:234669546A>C	ENST00000608383.1	+	1	613	c.613A>C	c.(613-615)Acc>Ccc	p.T205P	UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.T205P|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.T205P|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	205					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AGATCACATGACCTTCCTGCA	0.527																																						dbGAP											0													179.0	172.0	174.0					2																	234669546		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.613A>C	2.37:g.234669546A>C	ENSP00000476741:p.Thr205Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T205P	ENST00000608383.1	37	c.613	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345223	0.82022	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.63744	-0.06;-0.06	6.03	6.03	0.97812	.	.	.	.	.	D	0.82995	0.5158	H	0.95539	3.685	0.32819	D	0.502503	D;D	0.67145	0.996;0.99	D;D	0.79784	0.993;0.932	D	0.89015	0.3431	9	0.87932	D	0	.	7.8253	0.29311	0.8078:0.0:0.0674:0.1248	.	205;205	A6NJC3;P22309	.;UD11_HUMAN	P	205	ENSP00000304845:T205P;ENSP00000353593:T205P	ENSP00000304845:T205P	T	+	1	0	UGT1A1	234334285	0.918000	0.31147	1.000000	0.80357	0.973000	0.67179	2.170000	0.42443	2.308000	0.77769	0.533000	0.62120	ACC	UGT1A1	-	pfam_UDP_glucos_trans	ENSG00000241635		0.527	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		215	0.00	0	A			234669546	234669546	+1	no_errors	ENST00000305208	ensembl	human	known	69_37n	missense	143	14.20	24	SNP	0.993	C
UGT2B15	7366	genome.wustl.edu	37	4	69533779	69533779	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:69533779T>G	ENST00000338206.5	-	2	861	c.852A>C	c.(850-852)aaA>aaC	p.K284N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	284					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GTTTGGCTGGTTTACAGTGAA	0.393																																						dbGAP											0													156.0	170.0	166.0					4																	69533779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.852A>C	4.37:g.69533779T>G	ENSP00000341045:p.Lys284Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K284N	ENST00000338206.5	37	c.852	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	t	11.91	1.781097	0.31502	.	.	ENSG00000196620	ENST00000338206	T	0.61742	0.08	2.44	2.44	0.29823	.	0.344851	0.26804	U	0.022411	T	0.56441	0.1985	M	0.83384	2.64	0.27672	N	0.946727	B	0.20459	0.045	B	0.27076	0.076	T	0.57283	-0.7838	10	0.62326	D	0.03	.	4.7488	0.13050	0.2793:0.0:0.0:0.7207	.	284	P54855	UDB15_HUMAN	N	284	ENSP00000341045:K284N	ENSP00000341045:K284N	K	-	3	2	UGT2B15	69216374	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	1.466000	0.35310	1.111000	0.41721	0.254000	0.18369	AAA	UGT2B15	-	pfam_UDP_glucos_trans	ENSG00000196620		0.393	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	528	0.00	0	T	NM_001076		69533779	69533779	-1	no_errors	ENST00000338206	ensembl	human	known	69_37n	missense	354	11.47	46	SNP	1.000	G
UGT2B11	10720	genome.wustl.edu	37	4	70078319	70078319	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:70078319T>G	ENST00000446444.1	-	2	850	c.842A>C	c.(841-843)cAc>cCc	p.H281P	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	281					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGTTTGCAGTGGAATCCTCC	0.383																																						dbGAP											0													151.0	160.0	157.0					4																	70078319		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.842A>C	4.37:g.70078319T>G	ENSP00000387683:p.His281Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H281P	ENST00000446444.1	37	c.842	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	9.021	0.984970	0.18889	.	.	ENSG00000213759	ENST00000446444	T	0.61742	0.08	1.96	0.623	0.17654	.	0.137939	0.48286	U	0.000187	T	0.78039	0.4221	H	0.96833	3.89	0.27097	N	0.962713	P	0.50066	0.931	P	0.62885	0.908	T	0.69228	-0.5200	10	0.87932	D	0	.	5.7492	0.18138	0.2346:0.0:0.0:0.7653	.	281	O75310	UDB11_HUMAN	P	281	ENSP00000387683:H281P	ENSP00000387683:H281P	H	-	2	0	UGT2B11	70112908	1.000000	0.71417	0.947000	0.38551	0.081000	0.17604	4.081000	0.57627	-0.008000	0.14320	-1.496000	0.00964	CAC	UGT2B11	-	pfam_UDP_glucos_trans	ENSG00000213759		0.383	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	310	0.00	0	T	NM_001073		70078319	70078319	-1	no_errors	ENST00000446444	ensembl	human	known	69_37n	missense	228	11.63	30	SNP	1.000	G
UGT2B28	54490	genome.wustl.edu	37	4	70146295	70146295	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:70146295T>G	ENST00000335568.5	+	1	79	c.77T>G	c.(76-78)gTg>gGg	p.V26G	UGT2B28_ENST00000511240.1_Missense_Mutation_p.V26G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	26					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTGGAAAGGTGCTGGTGTGG	0.458																																						dbGAP											0													181.0	202.0	195.0					4																	70146295		2052	4237	6289	-	-	-	SO:0001583	missense	0			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.77T>G	4.37:g.70146295T>G	ENSP00000334276:p.Val26Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V26G	ENST00000335568.5	37	c.77	CCDS3528.1	4	.	.	.	.	.	.	.	.	.	.	-	12.38	1.921764	0.33908	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.66995	-0.24;-0.24	2.18	2.18	0.27775	.	0.109182	0.38492	U	0.001680	D	0.83562	0.5281	H	0.95004	3.61	0.42872	D	0.994144	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.97	D	0.84479	0.0604	10	0.87932	D	0	.	7.9497	0.30008	0.0:0.0:0.0:1.0	.	26;26	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	G	26	ENSP00000334276:V26G;ENSP00000427399:V26G	ENSP00000334276:V26G	V	+	2	0	UGT2B28	70180884	1.000000	0.71417	0.990000	0.47175	0.155000	0.21991	6.779000	0.75057	1.012000	0.39366	0.155000	0.16302	GTG	UGT2B28	-	pfam_UDP_glucos_trans	ENSG00000135226		0.458	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	HGNC	protein_coding	OTTHUMT00000251557.2	461	0.43	2	T	NM_053039		70146295	70146295	+1	no_errors	ENST00000335568	ensembl	human	known	69_37n	missense	369	10.84	45	SNP	0.999	G
UGT2B7	7364	genome.wustl.edu	37	4	69973902	69973902	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:69973902T>G	ENST00000305231.7	+	5	1218	c.1172T>G	c.(1171-1173)gTg>gGg	p.V391G	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	391					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATCCCTATGGTGGGGATTCCA	0.468																																						dbGAP											0													161.0	153.0	155.0					4																	69973902		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1172T>G	4.37:g.69973902T>G	ENSP00000304811:p.Val391Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R810|Q6GTW0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V391G	ENST00000305231.7	37	c.1172	CCDS3526.1	4	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233216	0.39498	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.70516	-0.27;-0.49	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000009	D	0.88085	0.6342	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89031	0.3442	9	.	.	.	.	8.8886	0.35418	0.0:0.0:0.0:1.0	.	391	P16662	UD2B7_HUMAN	G	142;391	ENSP00000426206:V142G;ENSP00000304811:V391G	.	V	+	2	0	UGT2B7	70008491	1.000000	0.71417	0.909000	0.35828	0.100000	0.18952	6.998000	0.76277	1.242000	0.43836	0.402000	0.26972	GTG	UGT2B7	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000171234		0.468	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B7	HGNC	protein_coding	OTTHUMT00000251560.1	215	0.00	0	T	NM_001074		69973902	69973902	+1	no_errors	ENST00000305231	ensembl	human	known	69_37n	missense	214	15.08	38	SNP	1.000	G
UGT2B4	7363	genome.wustl.edu	37	4	70346230	70346230	+	3'UTR	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:70346230T>G	ENST00000305107.6	-	0	1755				UGT2B4_ENST00000381096.3_3'UTR|UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CTTGACAAGGTAAGTTTTGAA	0.313																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.*122A>C	4.37:g.70346230T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	RNA	SNP	-	NULL	ENST00000305107.6	37	NULL	CCDS43234.1	4																																																																																			UGT2B4	-	-	ENSG00000156096		0.313	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	85	0.00	0	T	NM_021139		70346230	70346230	-1	no_errors	ENST00000506580	ensembl	human	known	69_37n	rna	57	16.18	11	SNP	0.000	G
UGT3A1	133688	genome.wustl.edu	37	5	35955885	35955885	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:35955885A>C	ENST00000274278.3	-	6	1514	c.1157T>G	c.(1156-1158)gTg>gGg	p.V386G	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V352G|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V386G	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	386						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTAATCCCACCATGGGCAC	0.502																																						dbGAP											0													183.0	164.0	170.0					5																	35955885		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1157T>G	5.37:g.35955885A>C	ENSP00000274278:p.Val386Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V386G	ENST00000274278.3	37	c.1157	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	.	19.55	3.849271	0.71603	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.70516	-0.49;-0.49;-0.49	4.12	4.12	0.48240	.	0.106318	0.38436	U	0.001698	D	0.87752	0.6256	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.996	D;D;D	0.83275	0.996;0.991;0.984	D	0.90755	0.4660	10	0.87932	D	0	.	12.4079	0.55451	1.0:0.0:0.0:0.0	.	352;386;386	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	G	386;386;352	ENSP00000274278:V386G;ENSP00000427079:V386G;ENSP00000426100:V352G	ENSP00000274278:V386G	V	-	2	0	UGT3A1	35991642	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	7.731000	0.84895	1.625000	0.50366	0.383000	0.25322	GTG	UGT3A1	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000145626		0.502	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2	206	0.00	0	A	NM_152404		35955885	35955885	-1	no_errors	ENST00000274278	ensembl	human	known	69_37n	missense	217	13.55	34	SNP	1.000	C
UHRF2	115426	genome.wustl.edu	37	9	6477776	6477776	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:6477776A>C	ENST00000276893.5	+	6	1296	c.1128A>C	c.(1126-1128)ccA>ccC	p.P376P		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	376					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GTCTGAATCCACCTTTGGATA	0.388																																						dbGAP											0													170.0	154.0	160.0					9																	6477776		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1128A>C	9.37:g.6477776A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.P376	ENST00000276893.5	37	c.1128	CCDS6469.1	9																																																																																			UHRF2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000147854		0.388	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	228	0.00	0	A	NM_152306		6477776	6477776	+1	no_errors	ENST00000276893	ensembl	human	known	69_37n	silent	236	10.27	27	SNP	0.976	C
ULBP2	80328	genome.wustl.edu	37	6	150266701	150266701	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:150266701A>C	ENST00000367351.3	+	2	415	c.342A>C	c.(340-342)acA>acC	p.T114T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	114	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGAATTACACACCCAAGGGTA	0.458																																						dbGAP											0													232.0	247.0	242.0					6																	150266701		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.342A>C	6.37:g.150266701A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUN4	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.T114	ENST00000367351.3	37	c.342	CCDS5222.1	6																																																																																			ULBP2	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000131015		0.458	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP2	HGNC	protein_coding	OTTHUMT00000042669.1	143	0.00	0	A			150266701	150266701	+1	no_errors	ENST00000367351	ensembl	human	known	69_37n	silent	64	16.88	13	SNP	0.000	C
ULBP3	79465	genome.wustl.edu	37	6	150386621	150386621	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:150386621T>G	ENST00000367339.2	-	3	569	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	ULBP3_ENST00000438272.2_Missense_Mutation_p.T181P			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	181	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TTGAAGAAGGTGGTCAGTCCG	0.517																																						dbGAP											0													159.0	151.0	154.0					6																	150386621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.541A>C	6.37:g.150386621T>G	ENSP00000356308:p.Thr181Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.T181P	ENST00000367339.2	37	c.541	CCDS5225.1	6	.	.	.	.	.	.	.	.	.	.	T	6.111	0.388684	0.11581	.	.	ENSG00000131019	ENST00000367339;ENST00000438272	T;T	0.06528	3.29;3.29	3.29	-6.58	0.01836	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.50759	-0.8790	9	0.72032	D	0.01	0.1333	6.2639	0.20915	0.0:0.2602:0.1438:0.596	.	181;181	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	P	181	ENSP00000356308:T181P;ENSP00000403562:T181P	ENSP00000356308:T181P	T	-	1	0	ULBP3	150428314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.029000	0.00084	-1.347000	0.02208	-0.665000	0.03846	ACC	ULBP3	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000131019		0.517	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP3	HGNC	protein_coding	OTTHUMT00000042678.2	102	0.97	1	T			150386621	150386621	-1	no_errors	ENST00000367339	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	0.000	G
UMOD	7369	genome.wustl.edu	37	16	20362022	20362022	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:20362022A>C	ENST00000570689.1	-	2	184	c.38T>G	c.(37-39)gTg>gGg	p.V13G	UMOD_ENST00000396134.2_Missense_Mutation_p.V13G|UMOD_ENST00000396142.2_Missense_Mutation_p.V13G|UMOD_ENST00000424589.1_Missense_Mutation_p.V13G|UMOD_ENST00000302509.4_Missense_Mutation_p.V13G|UMOD_ENST00000396138.4_Missense_Mutation_p.V62G			P07911	UROM_HUMAN	uromodulin	13					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAGGCCACCACCACCATCAG	0.507																																						dbGAP											0													194.0	147.0	163.0					16																	20362022		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.38T>G	16.37:g.20362022A>C	ENSP00000460548:p.Val13Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.V13G	ENST00000570689.1	37	c.38	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	a	12.96	2.095683	0.36952	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.83163	-1.69;-1.69;-1.5;-1.5	3.84	-4.2	0.03823	.	0.887653	0.09348	N	0.814609	T	0.74839	0.3769	L	0.54323	1.7	0.09310	N	1	B;B	0.20671	0.047;0.019	B;B	0.19391	0.024;0.025	T	0.62590	-0.6822	10	0.72032	D	0.01	-1.6944	5.8695	0.18795	0.3658:0.0:0.4796:0.1546	.	13;13	E9PEA4;P07911	.;UROM_HUMAN	G	13	ENSP00000379438:V13G;ENSP00000416346:V13G;ENSP00000306279:V13G;ENSP00000379446:V13G	ENSP00000306279:V13G	V	-	2	0	UMOD	20269523	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.013000	0.12678	-0.977000	0.03537	-0.379000	0.06801	GTG	UMOD	-	NULL	ENSG00000169344		0.507	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	38	0.00	0	A			20362022	20362022	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.000	C
UNC5D	137970	genome.wustl.edu	37	8	35579811	35579811	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:35579811A>C	ENST00000404895.2	+	9	1529	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	UNC5D_ENST00000420357.1_Missense_Mutation_p.T334P|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000453357.2_Missense_Mutation_p.T396P|UNC5D_ENST00000287272.2_Missense_Mutation_p.T345P|UNC5D_ENST00000416672.1_Missense_Mutation_p.T406P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	401					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTGGTGTCACCCTTTACAG	0.527																																						dbGAP											0													290.0	249.0	263.0					8																	35579811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1201A>C	8.37:g.35579811A>C	ENSP00000385143:p.Thr401Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.T401P	ENST00000404895.2	37	c.1201	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643267	0.67244	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.55052	0.57;1.0;0.98;0.54;0.54	5.71	4.55	0.56014	.	0.134719	0.64402	D	0.000002	T	0.65015	0.2651	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	P;D;P	0.63877	0.873;0.919;0.832	T	0.66968	-0.5789	10	0.87932	D	0	-26.7356	11.3445	0.49552	0.9284:0.0:0.0716:0.0	.	406;396;401	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	P	401;334;345;406;396	ENSP00000385143:T401P;ENSP00000392739:T334P;ENSP00000287272:T345P;ENSP00000412652:T406P;ENSP00000394303:T396P	ENSP00000287272:T345P	T	+	1	0	UNC5D	35699353	0.991000	0.36638	0.999000	0.59377	0.777000	0.43975	4.167000	0.58209	0.995000	0.38917	-0.263000	0.10527	ACC	UNC5D	-	NULL	ENSG00000156687		0.527	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	223	0.45	1	A			35579811	35579811	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	154	18.09	34	SNP	1.000	C
UNC79	57578	genome.wustl.edu	37	14	94039122	94039122	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94039122A>C	ENST00000393151.2	+	16	2030	c.2030A>C	c.(2029-2031)tAc>tCc	p.Y677S	UNC79_ENST00000555664.1_Missense_Mutation_p.Y677S|UNC79_ENST00000553484.1_Missense_Mutation_p.Y677S|UNC79_ENST00000256339.4_Missense_Mutation_p.Y500S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	677					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTACAGGATACCCCTCCTCT	0.393																																						dbGAP											0													234.0	221.0	225.0					14																	94039122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2030A>C	14.37:g.94039122A>C	ENSP00000376858:p.Tyr677Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y677S	ENST00000393151.2	37	c.2030		14	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123001	0.37436	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000004	T	0.22936	0.0554	N	0.14661	0.345	0.51767	D	0.999934	D	0.76494	0.999	D	0.80764	0.994	T	0.11641	-1.0579	10	0.11794	T	0.64	-19.3816	15.5431	0.76070	1.0:0.0:0.0:0.0	.	677	C9JQL1	.	S	500;677;677;677;677	ENSP00000256339:Y500S;ENSP00000450868:Y677S;ENSP00000451360:Y677S;ENSP00000376858:Y677S	ENSP00000256339:Y500S	Y	+	2	0	KIAA1409	93108875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.997000	0.93544	2.073000	0.62155	0.455000	0.32223	TAC	UNC79	-	NULL	ENSG00000133958		0.393	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	243	0.00	0	A	XM_028395		94039122	94039122	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	146	15.91	28	SNP	1.000	C
UNC79	57578	genome.wustl.edu	37	14	94046603	94046603	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94046603A>C	ENST00000393151.2	+	19	2542	c.2542A>C	c.(2542-2544)Acc>Ccc	p.T848P	UNC79_ENST00000555664.1_Missense_Mutation_p.T848P|UNC79_ENST00000553484.1_Missense_Mutation_p.T848P|UNC79_ENST00000256339.4_Missense_Mutation_p.T671P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	848					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGGATCCCACACCTGCCAGAA	0.453																																						dbGAP											0													88.0	100.0	96.0					14																	94046603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2542A>C	14.37:g.94046603A>C	ENSP00000376858:p.Thr848Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T848P	ENST00000393151.2	37	c.2542		14	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176474	0.57692	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18960	2.19;2.19;2.18;2.19	5.11	5.11	0.69529	.	0.050241	0.85682	D	0.000000	T	0.22859	0.0552	L	0.33485	1.01	0.41111	D	0.985747	B	0.34200	0.441	B	0.40329	0.326	T	0.05903	-1.0857	10	0.59425	D	0.04	-10.4204	14.9032	0.70696	1.0:0.0:0.0:0.0	.	848	C9JQL1	.	P	671;848;848;848;848	ENSP00000256339:T671P;ENSP00000450868:T848P;ENSP00000451360:T848P;ENSP00000376858:T848P	ENSP00000256339:T671P	T	+	1	0	KIAA1409	93116356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.938000	0.56188	0.459000	0.35465	ACC	UNC79	-	NULL	ENSG00000133958		0.453	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	141	0.70	1	A	XM_028395		94046603	94046603	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	66	20.48	17	SNP	1.000	C
UNC79	57578	genome.wustl.edu	37	14	94088870	94088870	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94088870A>C	ENST00000393151.2	+	30	5291	c.5291A>C	c.(5290-5292)cAc>cCc	p.H1764P	UNC79_ENST00000555664.1_Missense_Mutation_p.H1764P|UNC79_ENST00000553484.1_Missense_Mutation_p.H1786P|UNC79_ENST00000256339.4_Missense_Mutation_p.H1587P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1764					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGGATGATCACCCTGACCCG	0.582																																						dbGAP											0													64.0	64.0	64.0					14																	94088870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5291A>C	14.37:g.94088870A>C	ENSP00000376858:p.His1764Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H1786P	ENST00000393151.2	37	c.5357		14	.	.	.	.	.	.	.	.	.	.	A	0.899	-0.723051	0.03158	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.57	-0.0441	0.13856	.	0.480577	0.25478	N	0.030399	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	10	0.24483	T	0.36	-7.2616	6.135	0.20227	0.4775:0.2313:0.2912:0.0	.	1786	C9JQL1	.	P	1587;1764;1786;1764;1786	ENSP00000256339:H1587P;ENSP00000450868:H1764P;ENSP00000451360:H1786P;ENSP00000376858:H1764P	ENSP00000256339:H1587P	H	+	2	0	KIAA1409	93158623	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.480000	0.06559	-0.138000	0.11434	0.397000	0.26171	CAC	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.582	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	202	0.98	2	A	XM_028395		94088870	94088870	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	140	19.54	34	SNP	0.002	C
UNC79	57578	genome.wustl.edu	37	14	94156523	94156523	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:94156523T>G	ENST00000393151.2	+	46	7263	c.7263T>G	c.(7261-7263)ggT>ggG	p.G2421G	UNC79_ENST00000555664.1_Silent_p.G2382G|UNC79_ENST00000553484.1_Silent_p.G2443G|UNC79_ENST00000256339.4_Silent_p.G2244G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2421					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCTGCTGGGTTCCCTCACTC	0.478																																						dbGAP											0													198.0	167.0	177.0					14																	94156523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7263T>G	14.37:g.94156523T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.G2443	ENST00000393151.2	37	c.7329		14																																																																																			UNC79	-	NULL	ENSG00000133958		0.478	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	139	0.70	1	T	XM_028395		94156523	94156523	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	silent	88	16.19	17	SNP	0.198	G
UPF2	26019	genome.wustl.edu	37	10	12077331	12077331	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:12077331A>C	ENST00000356352.2	-	1	565	c.92T>G	c.(91-93)gTg>gGg	p.V31G	UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000397053.2_Missense_Mutation_p.V31G|UPF2_ENST00000357604.5_Missense_Mutation_p.V31G			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	31	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTGCTGCTCACTGTCCGCCT	0.468																																						dbGAP											0													209.0	179.0	189.0					10																	12077331		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.92T>G	10.37:g.12077331A>C	ENSP00000348708:p.Val31Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.V31G	ENST00000356352.2	37	c.92	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678330	0.29783	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.17854	2.25;2.25;2.25	5.78	5.78	0.91487	.	0.126333	0.53938	D	0.000051	T	0.11153	0.0272	N	0.19112	0.55	0.52501	D	0.999957	B	0.24186	0.099	B	0.19946	0.027	T	0.19257	-1.0311	10	0.27785	T	0.31	.	10.7122	0.45990	0.9289:0.0:0.0711:0.0	.	31	Q9HAU5	RENT2_HUMAN	G	31	ENSP00000348708:V31G;ENSP00000350221:V31G;ENSP00000380244:V31G	ENSP00000313617:V31G	V	-	2	0	UPF2	12117337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.241000	0.72369	2.333000	0.79357	0.482000	0.46254	GTG	UPF2	-	NULL	ENSG00000151461		0.468	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	317	0.31	1	A			12077331	12077331	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	missense	289	10.22	33	SNP	1.000	C
UQCC1	55245	genome.wustl.edu	37	20	33935039	33935039	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:33935039A>C	ENST00000374385.5	-	7	678	c.501T>G	c.(499-501)agT>agG	p.S167R	UQCC1_ENST00000542501.1_Missense_Mutation_p.W124G|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.S167R|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000374380.2_Missense_Mutation_p.S99R|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000397556.3_Missense_Mutation_p.S68R|UQCC1_ENST00000540457.1_Missense_Mutation_p.S12R|UQCC1_ENST00000374377.5_Missense_Mutation_p.S55R|UQCC1_ENST00000349714.5_Missense_Mutation_p.S140R|UQCC1_ENST00000374384.2_Missense_Mutation_p.S167R	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	167						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TGTACTTCCCACTCCGGCCTT	0.478																																						dbGAP											0													240.0	208.0	219.0					20																	33935039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.501T>G	20.37:g.33935039A>C	ENSP00000363506:p.Ser167Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	pfam_Ubiq_cyt_c_chap/UPF0174	p.S167R	ENST00000374385.5	37	c.501	CCDS13252.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.41|10.41	1.342375|1.342375	0.24339|0.24339	.|.	.|.	ENSG00000101019|ENSG00000101019	ENST00000349714;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000540457;ENST00000424405;ENST00000438533;ENST00000397554|ENST00000542501	T;T;T;T;T;T|T	0.44482|0.35048	1.51;1.53;1.49;0.92;1.53;1.5|1.33	4.32|4.32	0.349|0.349	0.16032|0.16032	.|.	0.443608|.	0.22652|.	N|.	0.057304|.	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.22421|0.22421	0.69|0.69	0.26376|0.26376	N|N	0.976819|0.976819	B;B;P;P;B;P;B;B|.	0.42518|.	0.25;0.452;0.782;0.605;0.178;0.469;0.154;0.032|.	B;P;P;P;B;B;B;B|.	0.51742|.	0.1;0.588;0.583;0.678;0.128;0.234;0.251;0.062|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|7	0.59425|0.87932	D|D	0.04|0	-0.0838|-0.0838	2.1133|2.1133	0.03708|0.03708	0.4619:0.1106:0.0821:0.3454|0.4619:0.1106:0.0821:0.3454	.|.	99;159;167;167;52;68;140;167|.	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1|.	.;.;.;.;.;.;.;UQCC_HUMAN|.	R|G	140;167;99;167;55;68;12;135;181;167|124	ENSP00000335364:S140R;ENSP00000363505:S167R;ENSP00000363506:S167R;ENSP00000399713:S135R;ENSP00000398531:S181R;ENSP00000380686:S167R|ENSP00000445059:W124G	ENSP00000335364:S140R|ENSP00000445059:W124G	S|W	-|-	3|1	2|0	UQCC|UQCC	33398453|33398453	0.587000|0.587000	0.26791|0.26791	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	-0.171000|-0.171000	0.09883|0.09883	0.258000|0.258000	0.21686|0.21686	0.402000|0.402000	0.26972|0.26972	AGT|TGG	UQCC	-	pfam_Ubiq_cyt_c_chap/UPF0174	ENSG00000101019		0.478	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC	HGNC	protein_coding	OTTHUMT00000078866.1	215	0.00	0	A	NM_018244		33935039	33935039	-1	no_errors	ENST00000374385	ensembl	human	known	69_37n	missense	210	15.32	38	SNP	0.874	C
UQCRC2	7385	genome.wustl.edu	37	16	21968763	21968763	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:21968763T>G	ENST00000268379.4	+	3	907	c.143T>G	c.(142-144)gTg>gGg	p.V48G	UQCRC2_ENST00000561553.1_Missense_Mutation_p.V48G	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	48					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATGGCTTGGTGATTGCTTCT	0.358																																					Colon(123;450 1645 12841 25393 45623)	dbGAP											0													113.0	109.0	110.0					16																	21968763		2198	4300	6498	-	-	-	SO:0001583	missense	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.143T>G	16.37:g.21968763T>G	ENSP00000268379:p.Val48Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.V48G	ENST00000268379.4	37	c.143	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546772	0.86022	.	.	ENSG00000140740	ENST00000268379	T	0.30182	1.54	5.5	5.5	0.81552	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.051813	0.85682	D	0.000000	T	0.58061	0.2096	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62609	-0.6818	10	0.59425	D	0.04	-7.6788	14.7428	0.69469	0.0:0.0:0.0:1.0	.	48	P22695	QCR2_HUMAN	G	48	ENSP00000268379:V48G	ENSP00000268379:V48G	V	+	2	0	UQCRC2	21876264	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.578000	0.82498	2.209000	0.71365	0.533000	0.62120	GTG	UQCRC2	-	superfamily_Metalloenz_metal-bd	ENSG00000140740		0.358	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	282	0.00	0	T	NM_003366		21968763	21968763	+1	no_errors	ENST00000268379	ensembl	human	known	69_37n	missense	190	11.21	24	SNP	1.000	G
USP2	9099	genome.wustl.edu	37	11	119228515	119228515	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:119228515A>C	ENST00000260187.2	-	10	1747	c.1453T>G	c.(1453-1455)Tgt>Ggt	p.C485G	USP2_ENST00000525735.1_Missense_Mutation_p.C276G|USP2_ENST00000455332.2_Missense_Mutation_p.C242G	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	485	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TTCTTTATACACCGTTTTCTG	0.498																																						dbGAP											0													282.0	302.0	295.0					11																	119228515		2199	4295	6494	-	-	-	SO:0001583	missense	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1453T>G	11.37:g.119228515A>C	ENSP00000260187:p.Cys485Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.C485G	ENST00000260187.2	37	c.1453	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707037	0.89018	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.02682	4.2;4.2;4.2	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.095107	0.85682	D	0.000000	T	0.09113	0.0225	L	0.31664	0.95	0.80722	D	1	D;P;D	0.71674	0.998;0.605;0.964	D;P;D	0.87578	0.998;0.826;0.965	T	0.16129	-1.0413	10	0.66056	D	0.02	-4.3494	15.2475	0.73517	1.0:0.0:0.0:0.0	.	242;485;276	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	G	242;485;232;276	ENSP00000407842:C242G;ENSP00000260187:C485G;ENSP00000436952:C276G	ENSP00000260187:C485G	C	-	1	0	USP2	118733725	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	8.839000	0.92120	2.201000	0.70794	0.533000	0.62120	TGT	USP2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000036672		0.498	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	HGNC	protein_coding	OTTHUMT00000388361.2	139	0.00	0	A	NM_171997		119228515	119228515	-1	no_errors	ENST00000260187	ensembl	human	known	69_37n	missense	141	16.96	29	SNP	1.000	C
USP26	83844	genome.wustl.edu	37	X	132161352	132161352	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:132161352A>T	ENST00000511190.1	-	6	1366	c.897T>A	c.(895-897)aaT>aaA	p.N299K	USP26_ENST00000406273.1_Missense_Mutation_p.N299K|USP26_ENST00000370832.1_Missense_Mutation_p.N299K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	299	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGTTTCCCAAATTGGGGAGGC	0.368																																					NSCLC(104;342 1621 36940 47097 52632)	dbGAP											0													35.0	36.0	36.0					X																	132161352		2195	4283	6478	-	-	-	SO:0001583	missense	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.897T>A	X.37:g.132161352A>T	ENSP00000423390:p.Asn299Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.N299K	ENST00000511190.1	37	c.897	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239641	0.39598	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	D;D;D	0.94184	-3.37;-3.37;-3.37	3.95	2.78	0.32641	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.205878	0.24301	N	0.039729	D	0.96537	0.8870	M	0.91090	3.175	0.30968	N	0.72286	D	0.89917	1.0	D	0.97110	1.0	D	0.93561	0.6895	10	0.72032	D	0.01	-24.0196	7.0878	0.25267	0.8868:0.0:0.1132:0.0	.	299	Q9BXU7	UBP26_HUMAN	K	299	ENSP00000359869:N299K;ENSP00000423390:N299K;ENSP00000384360:N299K	ENSP00000359869:N299K	N	-	3	2	USP26	131989018	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	1.453000	0.35167	0.670000	0.31165	0.486000	0.48141	AAT	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000134588		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	196	0.51	1	A	NM_031907		132161352	132161352	-1	no_errors	ENST00000370832	ensembl	human	known	69_37n	missense	149	19.89	37	SNP	1.000	T
USP30	84749	genome.wustl.edu	37	12	109510140	109510140	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:109510140A>C	ENST00000257548.5	+	6	703	c.610A>C	c.(610-612)Acc>Ccc	p.T204P	USP30_ENST00000392784.2_Missense_Mutation_p.T173P	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	204	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CAAACAAATTACCTGCCGCAC	0.353																																						dbGAP											0													85.0	84.0	84.0					12																	109510140		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.610A>C	12.37:g.109510140A>C	ENSP00000257548:p.Thr204Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.T204P	ENST00000257548.5	37	c.610	CCDS9123.2	12	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355058	0.61293	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	T;T;T	0.34275	1.38;1.37;1.49	4.82	4.82	0.62117	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.456851	0.25598	N	0.029563	T	0.25382	0.0617	N	0.16307	0.4	0.42086	D	0.991271	P	0.48407	0.91	P	0.44359	0.447	T	0.03315	-1.1049	10	0.23891	T	0.37	-25.0659	12.1339	0.53959	1.0:0.0:0.0:0.0	.	204	Q70CQ3	UBP30_HUMAN	P	173;204;173;143	ENSP00000376535:T173P;ENSP00000257548:T204P;ENSP00000443678:T173P	ENSP00000257548:T204P	T	+	1	0	USP30	107994523	0.999000	0.42202	0.986000	0.45419	0.983000	0.72400	2.841000	0.48223	1.802000	0.52723	0.379000	0.24179	ACC	USP30	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000135093		0.353	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	HGNC	protein_coding	OTTHUMT00000257733.2	194	0.51	1	A	NM_032663		109510140	109510140	+1	no_errors	ENST00000257548	ensembl	human	known	69_37n	missense	186	19.48	45	SNP	1.000	C
USP39	10713	genome.wustl.edu	37	2	85850817	85850817	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:85850817A>C	ENST00000323701.6	+	4	492	c.482A>C	c.(481-483)cAc>cCc	p.H161P	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.H161P|USP39_ENST00000409766.3_Missense_Mutation_p.H161P|USP39_ENST00000409470.1_Missense_Mutation_p.H161P|USP39_ENST00000450066.2_Missense_Mutation_p.H58P	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	161					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CAGTTTAGCCACCATGTTTTC	0.468																																						dbGAP											0													334.0	292.0	307.0					2																	85850817		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.482A>C	2.37:g.85850817A>C	ENSP00000312981:p.His161Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.H161P	ENST00000323701.6	37	c.482	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705607	0.89018	.	.	ENSG00000168883	ENST00000448971;ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.54	5.54	0.83059	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	H	0.94620	3.56	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.86975	0.2100	10	0.87932	D	0	-11.2291	13.9091	0.63855	1.0:0.0:0.0:0.0	.	58;83;161;161;161;161	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	P	83;58;58;161;161;161;161;161	ENSP00000396854:H83P;ENSP00000392911:H58P;ENSP00000396133:H58P;ENSP00000386572:H161P;ENSP00000386864:H161P;ENSP00000312981:H161P;ENSP00000386803:H161P	ENSP00000312981:H161P	H	+	2	0	USP39	85704328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.747000	0.91610	2.233000	0.73108	0.482000	0.46254	CAC	USP39	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP	ENSG00000168883		0.468	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	143	0.00	0	A	NM_006590		85850817	85850817	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	missense	122	19.21	29	SNP	1.000	C
USP37	57695	genome.wustl.edu	37	2	219363007	219363007	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:219363007A>C	ENST00000258399.3	-	12	1438				USP37_ENST00000418019.1_Intron|USP37_ENST00000454775.1_Intron|USP37_ENST00000415516.1_Intron|RN7SKP38_ENST00000410782.1_RNA	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		atattactacaccctaacccc	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1026-127T>G	2.37:g.219363007A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	RNA	SNP	-	NULL	ENST00000258399.3	37	NULL	CCDS2418.1	2																																																																																			USP37	-	-	ENSG00000135913		0.383	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	37	0.00	0	A	NM_020935		219363007	219363007	-1	no_errors	ENST00000466523	ensembl	human	known	69_37n	rna	32	19.51	8	SNP	0.000	C
USP40	55230	genome.wustl.edu	37	2	234431959	234431959	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:234431959A>C	ENST00000427112.2	-	15	2090	c.2055T>G	c.(2053-2055)ggT>ggG	p.G685G	USP40_ENST00000251722.6_Silent_p.G685G|USP40_ENST00000450966.1_Silent_p.G697G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	685					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGAAGATGACACCTGCTGGGA	0.522																																						dbGAP											0													188.0	178.0	182.0					2																	234431959		2016	4182	6198	-	-	-	SO:0001819	synonymous_variant	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2055T>G	2.37:g.234431959A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX38|Q70EL0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.G697	ENST00000427112.2	37	c.2091	CCDS46547.1	2																																																																																			USP40	-	NULL	ENSG00000085982		0.522	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	397	0.25	1	A	XM_114294		234431959	234431959	-1	no_errors	ENST00000450966	ensembl	human	known	69_37n	silent	247	11.43	32	SNP	0.000	C
USP40	55230	genome.wustl.edu	37	2	234432035	234432035	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:234432035A>C	ENST00000427112.2	-	15	2014	c.1979T>G	c.(1978-1980)gTg>gGg	p.V660G	USP40_ENST00000251722.6_Missense_Mutation_p.V660G|USP40_ENST00000450966.1_Missense_Mutation_p.V672G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	660					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AGATTCTATCACCTGACAACA	0.453																																						dbGAP											0													162.0	152.0	155.0					2																	234432035		1984	4168	6152	-	-	-	SO:0001583	missense	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1979T>G	2.37:g.234432035A>C	ENSP00000387898:p.Val660Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V672G	ENST00000427112.2	37	c.2015	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608221	0.46527	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.46063	0.88;0.88;0.88	5.33	5.33	0.75918	.	9.459250	0.00166	N	0.000000	T	0.39937	0.1097	N	0.19112	0.55	0.20307	N	0.999916	B;B	0.28850	0.144;0.225	B;B	0.31869	0.04;0.137	T	0.45190	-0.9278	10	0.62326	D	0.03	.	13.8779	0.63665	1.0:0.0:0.0:0.0	.	660;672	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	G	672;660;660	ENSP00000415434:V672G;ENSP00000251722:V660G;ENSP00000387898:V660G	ENSP00000251722:V660G	V	-	2	0	USP40	234096774	0.008000	0.16893	0.465000	0.27155	0.966000	0.64601	2.070000	0.41491	2.027000	0.59764	0.533000	0.62120	GTG	USP40	-	NULL	ENSG00000085982		0.453	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	342	0.00	0	A	XM_114294		234432035	234432035	-1	no_errors	ENST00000450966	ensembl	human	known	69_37n	missense	221	12.99	33	SNP	0.044	C
USP43	124739	genome.wustl.edu	37	17	9578277	9578277	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:9578277A>C	ENST00000285199.7	+	4	906	c.810A>C	c.(808-810)ctA>ctC	p.L270L	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.L270L	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	270	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTGTGTCCCTACCTATCCCCT	0.537																																						dbGAP											0													293.0	284.0	287.0					17																	9578277		2075	4220	6295	-	-	-	SO:0001819	synonymous_variant	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.810A>C	17.37:g.9578277A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L270	ENST00000285199.7	37	c.810	CCDS45610.1	17																																																																																			USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000154914		0.537	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	439	0.23	1	A	NM_153210		9578277	9578277	+1	no_errors	ENST00000285199	ensembl	human	known	69_37n	silent	287	12.46	41	SNP	0.192	C
USP54	159195	genome.wustl.edu	37	10	75258655	75258655	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:75258655T>G	ENST00000339859.4	-	23	4887	c.4787A>C	c.(4786-4788)cAc>cCc	p.H1596P	PPP3CB_ENST00000394829.2_5'Flank|USP54_ENST00000428547.1_Missense_Mutation_p.H1446P|PPP3CB_ENST00000394828.2_5'Flank|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|PPP3CB_ENST00000545874.1_5'Flank|USP54_ENST00000422491.2_Missense_Mutation_p.H731P|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.H637P|PPP3CB_ENST00000342558.3_5'Flank|USP54_ENST00000408019.1_Missense_Mutation_p.H1596P|RP11-137L10.6_ENST00000595935.1_RNA|PPP3CB_ENST00000360663.5_5'Flank|PPP3CB_ENST00000394822.2_5'Flank			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1596					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AATGGGAGGGTGGGAGGGTGA	0.517																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											0													109.0	97.0	101.0					10																	75258655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4787A>C	10.37:g.75258655T>G	ENSP00000345216:p.His1596Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H1596P	ENST00000339859.4	37	c.4787	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	T	8.218	0.801936	0.16397	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25749	1.79;1.79;1.78;1.85;1.85	5.22	1.56	0.23342	.	.	.	.	.	T	0.21841	0.0526	L	0.44542	1.39	0.09310	N	1	P;B	0.50528	0.936;0.165	P;B	0.44990	0.466;0.059	T	0.14337	-1.0476	9	0.72032	D	0.01	-0.203	3.716	0.08438	0.1605:0.1731:0.0:0.6665	.	731;1596	E7EW90;Q70EL1	.;UBP54_HUMAN	P	1596;1596;1446;637;731	ENSP00000345216:H1596P;ENSP00000386080:H1596P;ENSP00000408714:H1446P;ENSP00000378290:H637P;ENSP00000407368:H731P	ENSP00000345216:H1596P	H	-	2	0	USP54	74928661	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.335000	0.07873	0.288000	0.22398	0.443000	0.29094	CAC	USP54	-	NULL	ENSG00000166348		0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	169	0.00	0	T	NM_152586		75258655	75258655	-1	no_errors	ENST00000339859	ensembl	human	known	69_37n	missense	134	19.30	33	SNP	0.001	G
USP54	159195	genome.wustl.edu	37	10	75258663	75258663	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:75258663T>G	ENST00000339859.4	-	23	4879	c.4779A>C	c.(4777-4779)tcA>tcC	p.S1593S	PPP3CB_ENST00000394829.2_5'Flank|USP54_ENST00000428547.1_Silent_p.S1443S|PPP3CB_ENST00000394828.2_5'Flank|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|PPP3CB_ENST00000545874.1_5'Flank|USP54_ENST00000422491.2_Silent_p.S728S|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000394811.2_Silent_p.S634S|PPP3CB_ENST00000342558.3_5'Flank|USP54_ENST00000408019.1_Silent_p.S1593S|RP11-137L10.6_ENST00000595935.1_RNA|PPP3CB_ENST00000360663.5_5'Flank|PPP3CB_ENST00000394822.2_5'Flank			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1593					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTGGGAGGGTGAATGGAAAA	0.522																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											0													136.0	117.0	124.0					10																	75258663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4779A>C	10.37:g.75258663T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S1593	ENST00000339859.4	37	c.4779	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.522	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	186	0.00	0	T	NM_152586		75258663	75258663	-1	no_errors	ENST00000339859	ensembl	human	known	69_37n	silent	151	18.38	34	SNP	0.001	G
USP6	9098	genome.wustl.edu	37	17	5071409	5071409	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:5071409A>C	ENST00000574788.1	+	34	5449	c.3219A>C	c.(3217-3219)ccA>ccC	p.P1073P	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Silent_p.P1073P|USP6_ENST00000304328.5_Silent_p.P756P			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1073	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGAGGCTTCCACCCTTCCTGG	0.448			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	dbGAP		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													85.0	79.0	81.0					17																	5071409		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3219A>C	17.37:g.5071409A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15634|Q86WP6|Q8IWT4	Silent	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.P1073	ENST00000574788.1	37	c.3219	CCDS11069.2	17																																																																																			USP6	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000129204		0.448	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	117	0.00	0	A	NM_004505		5071409	5071409	+1	no_errors	ENST00000250066	ensembl	human	known	69_37n	silent	108	25.00	36	SNP	0.942	C
USP9X	8239	genome.wustl.edu	37	X	41075313	41075313	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:41075313T>G	ENST00000324545.8	+	35	6126	c.5493T>G	c.(5491-5493)ggT>ggG	p.G1831G	USP9X_ENST00000378308.2_Silent_p.G1831G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1831	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGTTGCAGGTGTCGCAAAGC	0.433																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													118.0	115.0	116.0					X																	41075313		2134	4264	6398	-	-	-	SO:0001819	synonymous_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5493T>G	X.37:g.41075313T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.G1831	ENST00000324545.8	37	c.5493	CCDS43930.1	X																																																																																			USP9X	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000124486		0.433	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	118	0.00	0	T	NM_004652		41075313	41075313	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	silent	121	25.31	41	SNP	0.981	G
USP9X	8239	genome.wustl.edu	37	X	41075653	41075653	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:41075653T>G	ENST00000324545.8	+	35	6466	c.5833T>G	c.(5833-5835)Tgg>Ggg	p.W1945G	USP9X_ENST00000378308.2_Missense_Mutation_p.W1945G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1945	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAGAAAAGGTGGTGGAATGC	0.398																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													152.0	144.0	147.0					X																	41075653		2191	4292	6483	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5833T>G	X.37:g.41075653T>G	ENSP00000316357:p.Trp1945Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.W1945G	ENST00000324545.8	37	c.5833	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736057	0.69189	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.29917	1.55;1.55	5.76	5.76	0.90799	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.59144	-0.7509	10	0.29301	T	0.29	.	15.0251	0.71663	0.0:0.0:0.0:1.0	.	1945;1945	Q93008-1;Q93008	.;USP9X_HUMAN	G	1945	ENSP00000367558:W1945G;ENSP00000316357:W1945G	ENSP00000316357:W1945G	W	+	1	0	USP9X	40960597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	1.931000	0.55961	0.417000	0.27973	TGG	USP9X	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000124486		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	170	0.00	0	T	NM_004652		41075653	41075653	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	192	10.70	23	SNP	1.000	G
USPL1	10208	genome.wustl.edu	37	13	31205503	31205503	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:31205503A>C	ENST00000255304.4	+	4	1102	c.760A>C	c.(760-762)Acc>Ccc	p.T254P	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	254	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GTTAAAGAACACCGTGACTGG	0.423																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											0													177.0	170.0	173.0					13																	31205503		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.760A>C	13.37:g.31205503A>C	ENSP00000255304:p.Thr254Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.T254P	ENST00000255304.4	37	c.760	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	A	16.58	3.164254	0.57476	.	.	ENSG00000132952	ENST00000255304	T	0.02837	4.14	6.07	-0.688	0.11317	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.957623	0.08814	N	0.889850	T	0.06554	0.0168	M	0.64997	1.995	0.09310	N	1	D	0.53151	0.958	P	0.47981	0.563	T	0.38802	-0.9644	10	0.56958	D	0.05	-0.0189	11.7908	0.52068	0.3634:0.0:0.6366:0.0	.	254	Q5W0Q7	USPL1_HUMAN	P	254	ENSP00000255304:T254P	ENSP00000255304:T254P	T	+	1	0	USPL1	30103503	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.181000	0.16880	-0.091000	0.12440	0.533000	0.62120	ACC	USPL1	-	pfscan_Peptidase_C19	ENSG00000132952		0.423	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	285	0.69	2	A	NM_005800		31205503	31205503	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	missense	209	13.64	33	SNP	0.001	C
UVRAG	7405	genome.wustl.edu	37	11	75591009	75591009	+	Silent	SNP	T	T	G	rs145298715	byFrequency	TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:75591009T>G	ENST00000356136.3	+	4	598	c.357T>G	c.(355-357)ggT>ggG	p.G119G	UVRAG_ENST00000528420.1_Silent_p.G18G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	119	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGATATGGGGTGGAAAGGAGA	0.428																																						dbGAP											0													279.0	264.0	269.0					11																	75591009		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.357T>G	11.37:g.75591009T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTC1|O00392	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G119	ENST00000356136.3	37	c.357	CCDS8241.1	11																																																																																			UVRAG	-	smart_C2_Ca-dep	ENSG00000198382		0.428	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	370	0.27	1	T	NM_003369		75591009	75591009	+1	no_errors	ENST00000356136	ensembl	human	known	69_37n	silent	215	12.55	31	SNP	0.998	G
VAMP1	6843	genome.wustl.edu	37	12	6574032	6574032	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:6574032A>C	ENST00000396308.3	-	4	486				VAMP1_ENST00000544432.1_Intron|TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000400911.3_Intron|VAMP1_ENST00000535180.1_Intron|VAMP1_ENST00000361716.3_3'UTR	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)						neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	TCTTCACCCCACCAGCAACTT	0.532																																						dbGAP											0													228.0	201.0	210.0					12																	6574032		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.340+23T>G	12.37:g.6574032A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	RNA	SNP	-	NULL	ENST00000396308.3	37	NULL	CCDS41740.1	12																																																																																			VAMP1	-	-	ENSG00000139190		0.532	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP1	HGNC	protein_coding	OTTHUMT00000399078.1	186	0.53	1	A			6574032	6574032	-1	no_errors	ENST00000535927	ensembl	human	known	69_37n	rna	204	15.98	39	SNP	0.483	C
VARS	7407	genome.wustl.edu	37	6	31752013	31752013	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:31752013T>G	ENST00000375663.3	-	13	2089	c.1649A>C	c.(1648-1650)cAc>cCc	p.H550P	VARS_ENST00000444930.2_Missense_Mutation_p.H255P|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	550					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ATCTTTGGGGTGCACAGCTAC	0.562																																						dbGAP											0													215.0	201.0	206.0					6																	31752013		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1649A>C	6.37:g.31752013T>G	ENSP00000364815:p.His550Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase	p.H550P	ENST00000375663.3	37	c.1649	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454090	0.84209	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.38560	1.13;1.13	5.52	5.52	0.82312	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	H	0.99368	4.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.86585	0.1856	10	0.87932	D	0	-16.3661	13.6015	0.62022	0.0:0.0:0.0:1.0	.	550	P26640	SYVC_HUMAN	P	550;255	ENSP00000364815:H550P;ENSP00000398317:H255P	ENSP00000364815:H550P	H	-	2	0	VARS	31859992	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.218000	0.77991	2.099000	0.63709	0.533000	0.62120	CAC	VARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase	ENSG00000204394		0.562	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	111	0.89	1	T	NM_006295		31752013	31752013	-1	no_errors	ENST00000375663	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	G
IFI35	3430	genome.wustl.edu	37	17	41168160	41168160	+	IGR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:41168160A>C	ENST00000415816.2	+	0	1241				VAT1_ENST00000420567.3_Splice_Site_p.V233G|VAT1_ENST00000355653.3_Splice_Site_p.V367G|VAT1_ENST00000587173.1_Splice_Site_p.V299G	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGCATCAGCCACCTGGGGAGG	0.567																																						dbGAP											0													245.0	228.0	234.0					17																	41168160		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168160A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.V367G	ENST00000415816.2	37	c.1100		17	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907576	0.72868	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.14640	3.23;2.49	5.24	5.24	0.73138	.	0.057046	0.64402	D	0.000001	T	0.40347	0.1113	M	0.88031	2.925	0.80722	D	1	D;D	0.62365	0.991;0.967	P;P	0.59825	0.858;0.864	T	0.49437	-0.8940	10	0.62326	D	0.03	-9.0593	15.1481	0.72674	1.0:0.0:0.0:0.0	.	299;367	B4DPX4;Q99536	.;VAT1_HUMAN	G	367;274;233	ENSP00000347872:V367G;ENSP00000408553:V233G	ENSP00000347872:V367G	V	-	2	0	VAT1	38421686	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.601000	0.61090	1.998000	0.58463	0.459000	0.35465	GTG	VAT1	-	smart_PKS_ER	ENSG00000108828		0.567	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	VAT1	HGNC	protein_coding	OTTHUMT00000395851.1	137	0.00	0	A	NM_005533		41168160	41168160	-1	no_errors	ENST00000355653	ensembl	human	known	69_37n	missense	157	16.04	30	SNP	1.000	C
VBP1	7411	genome.wustl.edu	37	X	154467174	154467174	+	3'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:154467174A>C	ENST00000286428.5	+	0	762				VBP1_ENST00000535916.1_3'UTR|VBP1_ENST00000459836.1_3'UTR	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATCTTAAATACCCCTTTATC	0.279																																						dbGAP											0													76.0	72.0	73.0					X																	154467174		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.*51A>C	X.37:g.154467174A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8L5|O55228|Q15765|Q5JT81|Q86X96	RNA	SNP	-	NULL	ENST00000286428.5	37	NULL	CCDS14765.1	X																																																																																			VBP1	-	-	ENSG00000155959		0.279	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VBP1	HGNC	protein_coding	OTTHUMT00000058806.1	248	0.00	0	A			154467174	154467174	+1	no_errors	ENST00000459836	ensembl	human	known	69_37n	rna	220	14.06	36	SNP	0.001	C
VCAM1	7412	genome.wustl.edu	37	1	101194810	101194810	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:101194810T>G	ENST00000294728.2	+	5	1177	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.V297G	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	359	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCGGGAAGGTGAGGAGTGAG	0.507																																						dbGAP											0													113.0	114.0	114.0					1																	101194810		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1076T>G	1.37:g.101194810T>G	ENSP00000294728:p.Val359Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.V359G	ENST00000294728.2	37	c.1076	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081117	0.55753	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.71341	-0.56;-0.56	5.41	4.25	0.50352	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.476280	0.23466	N	0.047862	T	0.80899	0.4712	M	0.89601	3.045	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.83275	0.924;0.996	T	0.79981	-0.1574	10	0.22706	T	0.39	-12.494	11.6639	0.51363	0.0:0.0705:0.0:0.9295	.	297;359	E9PDD1;P19320	.;VCAM1_HUMAN	G	297;359	ENSP00000359137:V297G;ENSP00000294728:V359G	ENSP00000294728:V359G	V	+	2	0	VCAM1	100967398	0.962000	0.33011	0.309000	0.25155	0.600000	0.36913	1.432000	0.34936	2.281000	0.76405	0.533000	0.62120	GTG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162692		0.507	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	133	0.74	1	T	NM_001078		101194810	101194810	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	missense	99	16.67	20	SNP	0.404	G
VCAN	1462	genome.wustl.edu	37	5	82875916	82875916	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:82875916A>C	ENST00000265077.3	+	14	10563	c.9998A>C	c.(9997-9999)cAc>cCc	p.H3333P	VCAN_ENST00000502527.2_Missense_Mutation_p.H592P|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.H1531P|VCAN_ENST00000342785.4_Missense_Mutation_p.H1579P|VCAN_ENST00000343200.5_Missense_Mutation_p.H2346P|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3333	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTCAACGTCACCTTCCAACT	0.423																																						dbGAP											0													131.0	122.0	125.0					5																	82875916		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9998A>C	5.37:g.82875916A>C	ENSP00000265077:p.His3333Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.H3333P	ENST00000265077.3	37	c.9998	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596716	0.66332	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	6.03	6.03	0.97812	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000015	T	0.77011	0.4068	L	0.57130	1.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.993;1.0	D;D;D;D	0.97110	0.999;0.997;0.991;1.0	T	0.78848	-0.2042	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	1579;592;2346;3333	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	P	3333;2346;1579;1531;592	ENSP00000265077:H3333P;ENSP00000340062:H2346P;ENSP00000342768:H1579P;ENSP00000425959:H1531P;ENSP00000421362:H592P	ENSP00000265077:H3333P	H	+	2	0	VCAN	82911672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	CAC	VCAN	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000038427		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	192	0.52	1	A	NM_004385		82875916	82875916	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	195	12.16	27	SNP	1.000	C
VCP	7415	genome.wustl.edu	37	9	35064200	35064200	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:35064200A>C	ENST00000358901.6	-	6	1554	c.659T>G	c.(658-660)gTg>gGg	p.V220G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	220					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGCAGTTCCACCATCTCCTT	0.478																																						dbGAP											0													226.0	197.0	207.0					9																	35064200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.659T>G	9.37:g.35064200A>C	ENSP00000351777:p.Val220Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48	p.V220G	ENST00000358901.6	37	c.659	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	A	34	5.291541	0.95546	.	.	ENSG00000165280	ENST00000358901	D	0.95588	-3.75	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99667	1.0995	10	0.87932	D	0	-13.1196	16.4837	0.84171	1.0:0.0:0.0:0.0	.	220	P55072	TERA_HUMAN	G	220	ENSP00000351777:V220G	ENSP00000351777:V220G	V	-	2	0	VCP	35054200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.164000	0.94755	2.371000	0.80710	0.533000	0.62120	GTG	VCP	-	tigrfam_ATPase_AAA_CDC48	ENSG00000165280		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	137	0.72	1	A	NM_007126		35064200	35064200	-1	no_errors	ENST00000358901	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	1.000	C
VDAC1	7416	genome.wustl.edu	37	5	133311581	133311581	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:133311581T>G	ENST00000265333.3	-	7	927	c.683A>C	c.(682-684)gAc>gCc	p.D228A	VDAC1_ENST00000395044.3_Missense_Mutation_p.D228A|VDAC1_ENST00000395047.2_Missense_Mutation_p.D228A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	228					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GGCGTCAGGGTCAATCTGATA	0.512																																					NSCLC(127;1776 1806 35523 41489 48154)	dbGAP											0													162.0	156.0	158.0					5																	133311581		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.683A>C	5.37:g.133311581T>G	ENSP00000265333:p.Asp228Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.D228A	ENST00000265333.3	37	c.683	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889164	0.72524	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.48522	0.81;0.81;0.81	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.80746	2.51	0.80722	D	1	P	0.36110	0.537	B	0.42995	0.404	T	0.65500	-0.6153	10	0.87932	D	0	.	15.9731	0.80036	0.0:0.0:0.0:1.0	.	228	P21796	VDAC1_HUMAN	A	228	ENSP00000265333:D228A;ENSP00000378484:D228A;ENSP00000378487:D228A	ENSP00000265333:D228A	D	-	2	0	VDAC1	133339480	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.959000	0.87885	2.234000	0.73211	0.472000	0.43445	GAC	VDAC1	-	pfam_Porin_Euk	ENSG00000213585		0.512	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	143	0.00	0	T			133311581	133311581	-1	no_errors	ENST00000265333	ensembl	human	known	69_37n	missense	170	14.57	29	SNP	1.000	G
VGLL1	51442	genome.wustl.edu	37	X	135630994	135630994	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:135630994A>C	ENST00000370634.3	+	3	631	c.461A>C	c.(460-462)cAc>cCc	p.H154P	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCCGCTCGGCACCTGGTTCCA	0.632																																						dbGAP											0													96.0	86.0	89.0					X																	135630994		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.461A>C	X.37:g.135630994A>C	ENSP00000359668:p.His154Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H915	Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.H154P	ENST00000370634.3	37	c.461	CCDS14658.1	X	.	.	.	.	.	.	.	.	.	.	A	4.013	-0.000186	0.07819	.	.	ENSG00000102243	ENST00000370634	T	0.58652	0.32	5.67	-1.74	0.08056	.	0.750251	0.13996	N	0.348468	T	0.41236	0.1150	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.21586	-1.0241	10	0.49607	T	0.09	-0.1015	6.3874	0.21568	0.3402:0.4908:0.169:0.0	.	154	Q99990	VGLL1_HUMAN	P	154	ENSP00000359668:H154P	ENSP00000359668:H154P	H	+	2	0	VGLL1	135458660	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.137000	0.10389	-0.760000	0.04677	-0.314000	0.08810	CAC	VGLL1	-	NULL	ENSG00000102243		0.632	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL1	HGNC	protein_coding	OTTHUMT00000058493.1	227	0.87	2	A	NM_016267		135630994	135630994	+1	no_errors	ENST00000370634	ensembl	human	known	69_37n	missense	233	16.07	45	SNP	0.000	C
VPRBP	9730	genome.wustl.edu	37	3	51457421	51457421	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:51457421T>G	ENST00000335891.5	-	7	1665	c.1656A>C	c.(1654-1656)ccA>ccC	p.P552P				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1001					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)		CCAGCGTAGGTGGGGAAGGAA	0.502																																						dbGAP											0													259.0	255.0	257.0					3																	51457421		2005	4174	6179	-	-	-	SO:0001819	synonymous_variant	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.1656A>C	3.37:g.51457421T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.P552	ENST00000335891.5	37	c.1656		3																																																																																			VPRBP	-	superfamily_ARM-type_fold	ENSG00000145041		0.502	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		245	0.81	2	T	NM_014703		51457421	51457421	-1	no_errors	ENST00000335891	ensembl	human	known	69_37n	silent	306	11.46	40	SNP	0.657	G
VPS13B	157680	genome.wustl.edu	37	8	100711900	100711900	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:100711900T>G	ENST00000358544.2	+	36	6380	c.6269T>G	c.(6268-6270)gTg>gGg	p.V2090G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2065G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2090					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACACCATGGTGAATAAGGAT	0.378																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													97.0	97.0	97.0					8																	100711900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6269T>G	8.37:g.100711900T>G	ENSP00000351346:p.Val2090Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.V2090G	ENST00000358544.2	37	c.6269	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	T	3.348	-0.133202	0.06711	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68479	-0.33;-0.33	5.74	1.93	0.25924	.	0.631105	0.14745	N	0.300979	T	0.44477	0.1295	N	0.22421	0.69	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20840	-1.0263	10	0.16896	T	0.51	.	4.346	0.11133	0.0:0.2495:0.3215:0.4291	.	2065;2090	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2065;2090	ENSP00000349685:V2065G;ENSP00000351346:V2090G	ENSP00000349685:V2065G	V	+	2	0	VPS13B	100781076	0.120000	0.22244	0.165000	0.22776	0.677000	0.39632	0.601000	0.24119	0.080000	0.16959	0.533000	0.62120	GTG	VPS13B	-	NULL	ENSG00000132549		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	196	0.00	0	T	NM_184042		100711900	100711900	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	164	10.87	20	SNP	0.200	G
VPS13B	157680	genome.wustl.edu	37	8	100830715	100830715	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:100830715T>G	ENST00000358544.2	+	46	8584	c.8473T>G	c.(8473-8475)Tgc>Ggc	p.C2825G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.C2800G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2825					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTATGTCTGGTGCACAGTTTT	0.373																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													149.0	138.0	142.0					8																	100830715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8473T>G	8.37:g.100830715T>G	ENSP00000351346:p.Cys2825Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.C2825G	ENST00000358544.2	37	c.8473	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122870	0.77436	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72835	-0.68;-0.69	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.79827	-0.1639	10	0.72032	D	0.01	.	15.3916	0.74747	0.0:0.0:0.0:1.0	.	2800;2825	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2800;2825	ENSP00000349685:C2800G;ENSP00000351346:C2825G	ENSP00000349685:C2800G	C	+	1	0	VPS13B	100899891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.041000	0.60428	0.528000	0.53228	TGC	VPS13B	-	NULL	ENSG00000132549		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	149	0.66	1	T	NM_184042		100830715	100830715	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	102	14.88	18	SNP	1.000	G
VPS13D	55187	genome.wustl.edu	37	1	12333109	12333109	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12333109T>G	ENST00000358136.3	+	18	2283	c.2153T>G	c.(2152-2154)gTg>gGg	p.V718G	VPS13D_ENST00000356315.4_Missense_Mutation_p.V718G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V718A(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCCCTCAGGTGATATTTCCT	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											153.0	144.0	147.0					1																	12333109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2153T>G	1.37:g.12333109T>G	ENSP00000350854:p.Val718Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V718G	ENST00000358136.3	37	c.2153	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664841	0.88251	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.56444	0.46;0.47	5.16	5.16	0.70880	.	0.067287	0.64402	D	0.000017	T	0.65873	0.2733	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.878	T	0.69491	-0.5131	10	0.87932	D	0	.	15.0014	0.71476	0.0:0.0:0.0:1.0	.	718;718	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	G	718	ENSP00000348666:V718G;ENSP00000350854:V718G	ENSP00000348666:V718G	V	+	2	0	VPS13D	12255696	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.651000	0.83577	1.929000	0.55896	0.477000	0.44152	GTG	VPS13D	-	NULL	ENSG00000048707		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	184	0.00	0	T	NM_015378		12333109	12333109	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	155	17.99	34	SNP	1.000	G
VPS13D	55187	genome.wustl.edu	37	1	12338010	12338010	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12338010A>C	ENST00000358136.3	+	19	4495	c.4365A>C	c.(4363-4365)ccA>ccC	p.P1455P	VPS13D_ENST00000356315.4_Silent_p.P1455P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTTTGCCCACCTTCCGGGT	0.478																																						dbGAP											0													134.0	129.0	131.0					1																	12338010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4365A>C	1.37:g.12338010A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.H278P	ENST00000358136.3	37	c.833	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	A	5.672	0.308636	0.10733	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.95	-6.43	0.01926	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	10.1739	0.42927	0.1123:0.0:0.3811:0.5065	.	.	.	.	P	278	.	.	H	+	2	0	VPS13D	12260597	0.001000	0.12720	0.000000	0.03702	0.506000	0.33950	-0.183000	0.09712	-1.006000	0.03412	0.528000	0.53228	CAC	VPS13D	-	NULL	ENSG00000048707		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	267	0.73	2	A	NM_015378		12338010	12338010	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000011700	ensembl	human	novel	69_37n	missense	143	19.44	35	SNP	0.075	C
VPS13D	55187	genome.wustl.edu	37	1	12343273	12343273	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12343273A>C	ENST00000358136.3	+	21	5244	c.5114A>C	c.(5113-5115)tAc>tCc	p.Y1705S	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y1705S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAAAAGAATACCTTTCTCAG	0.453																																						dbGAP											0													134.0	133.0	133.0					1																	12343273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5114A>C	1.37:g.12343273A>C	ENSP00000350854:p.Tyr1705Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Y1705S	ENST00000358136.3	37	c.5114	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	4.004452|4.004452	0.74932|0.74932	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.50277	.|0.75;0.76	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60689|0.60689	0.2288|0.2288	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60575	.|0.988;0.979	.|P;P	.|0.60236	.|0.871;0.747	T|T	0.55642|0.55642	-0.8109|-0.8109	5|10	.|0.22109	.|T	.|0.4	.|.	16.3123|16.3123	0.82883|0.82883	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1705;1705	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	P|S	528|1705	.|ENSP00000348666:Y1705S;ENSP00000350854:Y1705S	.|ENSP00000348666:Y1705S	T|Y	+|+	1|2	0|0	VPS13D|VPS13D	12265860|12265860	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.952000|0.952000	0.60782|0.60782	8.962000|8.962000	0.93254|0.93254	2.254000|2.254000	0.74563|0.74563	0.459000|0.459000	0.35465|0.35465	ACC|TAC	VPS13D	-	NULL	ENSG00000048707		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	353	0.28	1	A	NM_015378		12343273	12343273	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	273	13.84	44	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12423158	12423158	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12423158A>C	ENST00000358136.3	+	52	10433	c.10303A>C	c.(10303-10305)Acc>Ccc	p.T3435P	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3410P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACATTTCCACCCTTCCTGG	0.453																																						dbGAP											0													259.0	234.0	242.0					1																	12423158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10303A>C	1.37:g.12423158A>C	ENSP00000350854:p.Thr3435Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T3435P	ENST00000358136.3	37	c.10303	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784109	0.90282	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.32515	1.45;1.45	6.06	6.06	0.98353	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.68621	0.899;0.959	T	0.40289	-0.9571	9	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	3410;3434	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	P	3410;3435	ENSP00000348666:T3410P;ENSP00000350854:T3435P	.	T	+	1	0	VPS13D	12345745	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	8.923000	0.92808	2.324000	0.78689	0.533000	0.62120	ACC	VPS13D	-	pfam_VPSAP	ENSG00000048707		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	224	0.00	0	A	NM_015378		12423158	12423158	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	199	16.74	40	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12429618	12429618	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12429618A>C	ENST00000358136.3	+	54	10799	c.10669A>C	c.(10669-10671)Acc>Ccc	p.T3557P	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3532P|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGACGAACCCACCTTGCCACC	0.493																																						dbGAP											0													146.0	147.0	147.0					1																	12429618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10669A>C	1.37:g.12429618A>C	ENSP00000350854:p.Thr3557Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T3557P	ENST00000358136.3	37	c.10669	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396544	0.62177	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.37058	1.22;1.22	5.93	4.81	0.61882	Vacuolar protein sorting-associated protein (1);	0.358876	0.33457	N	0.004882	T	0.43144	0.1234	L	0.46157	1.445	0.80722	D	1	B;P	0.36144	0.338;0.539	B;P	0.48738	0.354;0.588	T	0.20273	-1.0280	9	.	.	.	.	11.719	0.51670	0.9306:0.0:0.0694:0.0	.	3532;3556	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	P	3532;3557	ENSP00000348666:T3532P;ENSP00000350854:T3557P	.	T	+	1	0	VPS13D	12352205	0.699000	0.27786	0.998000	0.56505	0.950000	0.60333	2.942000	0.49018	1.077000	0.40990	0.529000	0.55759	ACC	VPS13D	-	pfam_VPSAP	ENSG00000048707		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	252	0.00	0	A	NM_015378		12429618	12429618	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	219	12.75	32	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12446264	12446264	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:12446264T>G	ENST00000358136.3	+	60	11635	c.11505T>G	c.(11503-11505)ggT>ggG	p.G3835G	VPS13D_ENST00000356315.4_Silent_p.G3810G|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTTAGAAGGTGGAATTGGGT	0.408																																						dbGAP											0													181.0	182.0	182.0					1																	12446264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11505T>G	1.37:g.12446264T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V2657G	ENST00000358136.3	37	c.7970	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443213	0.25987	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.17	1.09	0.20402	.	.	.	.	.	T	0.52075	0.1712	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38607	-0.9653	4	.	.	.	.	6.0497	0.19779	0.0:0.2718:0.1252:0.603	.	.	.	.	G	2657	.	.	V	+	2	0	VPS13D	12368851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.836000	0.27545	0.207000	0.20607	0.533000	0.62120	GTG	VPS13D	-	NULL	ENSG00000048707		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	267	0.00	0	T	NM_015378		12446264	12446264	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000011700	ensembl	human	novel	69_37n	missense	237	12.55	34	SNP	0.996	G
VPS16	64601	genome.wustl.edu	37	20	2845110	2845110	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:2845110T>G	ENST00000380445.3	+	18	1890		c.e18+2		VPS16_ENST00000380469.3_Splice_Site|PTPRA_ENST00000380393.3_Splice_Site|VPS16_ENST00000380443.3_Splice_Site	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)						intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TACCGACAGGTGTGTGTAGTG	0.542																																						dbGAP											0													134.0	130.0	132.0					20																	2845110		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1818+2T>G	20.37:g.2845110T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Splice_Site	SNP	-	e18+2	ENST00000380445.3	37	c.1818+2	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069477	0.55539	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5021	0.44813	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS16	2793110	1.000000	0.71417	0.924000	0.36721	0.888000	0.51559	6.925000	0.75829	1.985000	0.57927	0.459000	0.35465	.	VPS16	-	-	ENSG00000215305		0.542	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	120	0.00	0	T	NM_022575	Intron	2845110	2845110	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	splice_site	126	21.74	35	SNP	0.986	G
VPS16	64601	genome.wustl.edu	37	20	2845251	2845251	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:2845251A>C	ENST00000380445.3	+	19	1949	c.1877A>C	c.(1876-1878)cAc>cCc	p.H626P	VPS16_ENST00000380469.3_Missense_Mutation_p.H482P|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.H312P	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	626					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATGACAATCACCAGGAATTG	0.567																																						dbGAP											0													151.0	148.0	149.0					20																	2845251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1877A>C	20.37:g.2845251A>C	ENSP00000369810:p.His626Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.H626P	ENST00000380445.3	37	c.1877	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395604	0.62177	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.43688	0.94;0.94;0.94	5.34	5.34	0.76211	Vps16, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	N	0.21240	0.645	0.80722	D	1	D;D;D;D	0.71674	0.989;0.996;0.996;0.998	P;D;D;D	0.66196	0.879;0.915;0.926;0.942	T	0.48980	-0.8986	10	0.49607	T	0.09	-24.0586	13.2687	0.60150	1.0:0.0:0.0:0.0	.	102;312;482;626	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	P	626;482;312	ENSP00000369810:H626P;ENSP00000369836:H482P;ENSP00000369808:H312P	ENSP00000369808:H312P	H	+	2	0	VPS16	2793251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.675000	0.91195	2.031000	0.59945	0.459000	0.35465	CAC	VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.567	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	152	0.00	0	A	NM_022575		2845251	2845251	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	missense	148	11.38	19	SNP	1.000	C
VPS33B	26276	genome.wustl.edu	37	15	91542959	91542959	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:91542959A>C	ENST00000333371.3	-	22	2075	c.1722T>G	c.(1720-1722)ggT>ggG	p.G574G	VPS33B_ENST00000535843.1_Silent_p.G483G|VPS33B_ENST00000535906.1_Silent_p.G547G	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	574					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATGTACAACCACCCAAGAACA	0.512																																						dbGAP											0													261.0	259.0	260.0					15																	91542959		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1722T>G	15.37:g.91542959A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.G574	ENST00000333371.3	37	c.1722	CCDS10369.1	15																																																																																			VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000184056		0.512	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	238	0.00	0	A	NM_018668		91542959	91542959	-1	no_errors	ENST00000333371	ensembl	human	known	69_37n	silent	311	13.61	49	SNP	0.322	C
VPS53	55275	genome.wustl.edu	37	17	436129	436129	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:436129T>G	ENST00000571805.1	-	19	2174	c.2038A>C	c.(2038-2040)Acc>Ccc	p.T680P	VPS53_ENST00000401468.3_Missense_Mutation_p.T403P|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.T680P|VPS53_ENST00000291074.5_Missense_Mutation_p.T651P|VPS53_ENST00000446250.2_Missense_Mutation_p.T482P|RP5-1029F21.4_ENST00000570974.1_RNA|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	680					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAGAGGTGGGTGATGAATTTG	0.423																																						dbGAP											0													149.0	134.0	139.0					17																	436129		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.2038A>C	17.37:g.436129T>G	ENSP00000459312:p.Thr680Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.T680P	ENST00000571805.1	37	c.2038		17	.	.	.	.	.	.	.	.	.	.	T	18.30	3.592550	0.66219	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468	T;T;T;T	0.43688	1.52;1.53;1.53;0.94	5.08	5.08	0.68730	.	0.047647	0.85682	D	0.000000	T	0.46983	0.1421	L	0.46157	1.445	0.42178	D	0.991678	P;B;B;B;B	0.48589	0.912;0.351;0.147;0.091;0.147	P;B;B;B;B	0.49887	0.625;0.169;0.138;0.081;0.212	T	0.50303	-0.8844	10	0.62326	D	0.03	-24.9548	14.0194	0.64545	0.0:0.0:0.0:1.0	.	403;680;482;680;651	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	P	680;482;651;403	ENSP00000401435:T680P;ENSP00000394386:T482P;ENSP00000291074:T651P;ENSP00000384294:T403P	ENSP00000291074:T651P	T	-	1	0	VPS53	382879	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.593000	0.82686	1.920000	0.55613	0.459000	0.35465	ACC	VPS53	-	NULL	ENSG00000141252		0.423	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	29	0.00	0	T	NM_018289		436129	436129	-1	no_errors	ENST00000437048	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	G
VSTM1	284415	genome.wustl.edu	37	19	54561727	54561727	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:54561727A>C	ENST00000338372.2	-	3	363	c.188T>G	c.(187-189)gTg>gGg	p.V63G	VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Missense_Mutation_p.V63G|VSTM1_ENST00000425006.2_Missense_Mutation_p.V63G	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	63	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGAGTCGTTCACCTTGCGCAG	0.547																																						dbGAP											0													148.0	137.0	141.0					19																	54561727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.188T>G	19.37:g.54561727A>C	ENSP00000343366:p.Val63Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.V63G	ENST00000338372.2	37	c.188	CCDS12872.1	19	.	.	.	.	.	.	.	.	.	.	A	8.624	0.892103	0.17613	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.00669	5.9;5.9;5.9	2.96	-0.652	0.11450	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.130630	0.07113	N	0.842610	T	0.00784	0.0026	N	0.25332	0.735	0.09310	N	1	P;P	0.43287	0.802;0.801	B;B	0.42916	0.265;0.402	T	0.47935	-0.9078	9	.	.	.	0.1042	4.0804	0.09924	0.4348:0.4345:0.1307:0.0	.	63;63	D2DJS4;Q6UX27	.;VSTM1_HUMAN	G	63	ENSP00000343366:V63G;ENSP00000365813:V63G;ENSP00000413006:V63G	.	V	-	2	0	VSTM1	59253539	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.542000	0.06091	-0.224000	0.09928	0.383000	0.25322	GTG	VSTM1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000189068		0.547	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3	118	0.00	0	A	NM_198481		54561727	54561727	-1	no_errors	ENST00000338372	ensembl	human	known	69_37n	missense	167	14.29	28	SNP	0.000	C
VSX1	30813	genome.wustl.edu	37	20	25059463	25059463	+	Splice_Site	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:25059463A>C	ENST00000376709.4	-	3	891		c.e3+1		VSX1_ENST00000376707.3_Missense_Mutation_p.V210G|VSX1_ENST00000424574.1_Splice_Site|VSX1_ENST00000429762.3_Splice_Site|VSX1_ENST00000451258.1_Splice_Site|VSX1_ENST00000444511.2_Splice_Site	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1						neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GACCCCAGACACCTGTATCCG	0.532																																						dbGAP											0													178.0	182.0	180.0					20																	25059463		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.627+1T>G	20.37:g.25059463A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Splice_Site	SNP	-	e3+2	ENST00000376709.4	37	c.627+2	CCDS13168.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.212071|4.212071	0.79240|0.79240	.|.	.|.	ENSG00000100987|ENSG00000100987	ENST00000429762;ENST00000444511;ENST00000424574;ENST00000451258;ENST00000376709|ENST00000376707	.|D	.|0.97186	.|-4.28	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|.	.|.	.|.	.|.	.|D	.|0.98273	.|0.9428	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73708	.|0.981	.|D	.|0.99267	.|1.0892	.|8	.|0.87932	.|D	.|0	.|.	13.7915|13.7915	0.63143|0.63143	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|210	.|Q9NZR4-2	.|.	.|G	-1|210	.|ENSP00000365897:V210G	.|ENSP00000365897:V210G	.|V	-|-	.|2	.|0	VSX1|VSX1	25007463|25007463	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.985000|0.985000	0.73830|0.73830	8.195000|8.195000	0.89723|0.89723	2.000000|2.000000	0.58554|0.58554	0.459000|0.459000	0.35465|0.35465	.|GTG	VSX1	-	-	ENSG00000100987		0.532	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX1	HGNC	protein_coding	OTTHUMT00000078384.3	195	0.00	0	A		Intron	25059463	25059463	-1	no_errors	ENST00000376709	ensembl	human	known	69_37n	splice_site	133	15.29	24	SNP	1.000	C
VWA3B	200403	genome.wustl.edu	37	2	98736089	98736089	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:98736089T>G	ENST00000477737.1	+	4	609	c.405T>G	c.(403-405)ggT>ggG	p.G135G	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.G135G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	135										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGATTTTTGGTGTCATCTTGG	0.502																																						dbGAP											0													177.0	173.0	174.0					2																	98736089		1982	4151	6133	-	-	-	SO:0001819	synonymous_variant	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.405T>G	2.37:g.98736089T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G135	ENST00000477737.1	37	c.405	CCDS42718.1	2																																																																																			VWA3B	-	NULL	ENSG00000168658		0.502	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	162	0.00	0	T	NM_144992		98736089	98736089	+1	no_errors	ENST00000477737	ensembl	human	known	69_37n	silent	145	12.65	21	SNP	0.938	G
VWA8	23078	genome.wustl.edu	37	13	42404717	42404717	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr13:42404717A>C	ENST00000379310.3	-	14	1716	c.1648T>G	c.(1648-1650)Tat>Gat	p.Y550D	VWA8_ENST00000281496.6_Missense_Mutation_p.Y550D	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	550						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AAACGCATATACCTGTCTTCT	0.383																																						dbGAP											0													118.0	113.0	115.0					13																	42404717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1648T>G	13.37:g.42404717A>C	ENSP00000368612:p.Tyr550Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.Y550D	ENST00000379310.3	37	c.1648	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827206	0.90955	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.53640	0.61;0.61	6.06	6.06	0.98353	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76553	-0.2917	10	0.87932	D	0	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	550	A3KMH1	K0564_HUMAN	D	454;550;550	ENSP00000368612:Y550D;ENSP00000281496:Y550D	ENSP00000251030:Y454D	Y	-	1	0	KIAA0564	41302717	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	9.046000	0.93817	2.322000	0.78497	0.528000	0.53228	TAT	VWA8	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000102763		0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	164	0.61	1	A	NM_015058		42404717	42404717	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	124	17.33	26	SNP	1.000	C
WBP2NL	164684	genome.wustl.edu	37	22	42422936	42422936	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:42422936A>C	ENST00000328823.9	+	6	712	c.681A>C	c.(679-681)ccA>ccC	p.P227P	WBP2NL_ENST00000543212.1_Silent_p.P153P	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	227	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						ACGGAGCCCCACCTGCAGGAT	0.587																																						dbGAP											0													141.0	155.0	150.0					22																	42422936		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.681A>C	22.37:g.42422936A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	pfam_WW-domain-binding,pfam_GRAM	p.P227	ENST00000328823.9	37	c.681	CCDS14029.1	22																																																																																			WBP2NL	-	NULL	ENSG00000183066		0.587	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	HGNC	protein_coding	OTTHUMT00000322037.1	305	0.65	2	A	NM_152613		42422936	42422936	+1	no_errors	ENST00000328823	ensembl	human	known	69_37n	silent	217	13.10	33	SNP	0.001	C
WDPCP	51057	genome.wustl.edu	37	2	63666923	63666923	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:63666923A>C	ENST00000272321.7	-	7	994	c.467T>G	c.(466-468)gTg>gGg	p.V156G	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_5'Flank|WDPCP_ENST00000409562.3_Missense_Mutation_p.V156G	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	156					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GAGCTTCCCCACCAGGCTTCT	0.488																																						dbGAP											0													139.0	136.0	137.0					2																	63666923		1955	4171	6126	-	-	-	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.467T>G	2.37:g.63666923A>C	ENSP00000272321:p.Val156Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.V156G	ENST00000272321.7	37	c.467	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139351	0.77775	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.58652	0.32;0.32	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.73721	0.3623	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.984	P;P	0.62298	0.9;0.874	T	0.77827	-0.2443	10	0.87932	D	0	-8.016	15.5744	0.76365	1.0:0.0:0.0:0.0	.	156;156	O95876-2;O95876	.;FRITZ_HUMAN	G	156	ENSP00000272321:V156G;ENSP00000387222:V156G	ENSP00000272321:V156G	V	-	2	0	WDPCP	63520427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.326000	0.65875	2.086000	0.62901	0.533000	0.62120	GTG	WDPCP	-	pfam_DUF3312	ENSG00000143951		0.488	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	199	0.50	1	A	NM_015910		63666923	63666923	-1	no_errors	ENST00000272321	ensembl	human	known	69_37n	missense	116	15.94	22	SNP	1.000	C
WDR11	55717	genome.wustl.edu	37	10	122648628	122648628	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:122648628T>G	ENST00000263461.6	+	17	2406	c.2160T>G	c.(2158-2160)ggT>ggG	p.G720G	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTTGGAAAGGTGATACATTAG	0.338																																						dbGAP											0													137.0	143.0	141.0					10																	122648628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2160T>G	10.37:g.122648628T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.G720	ENST00000263461.6	37	c.2160	CCDS7619.1	10																																																																																			WDR11	-	pfam_WD40_repeat,smart_WD40_repeat	ENSG00000120008		0.338	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	113	0.00	0	T			122648628	122648628	+1	no_errors	ENST00000263461	ensembl	human	known	69_37n	silent	86	18.87	20	SNP	0.616	G
WDR33	55339	genome.wustl.edu	37	2	128471406	128471406	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:128471406T>G	ENST00000322313.4	-	18	3217	c.3059A>C	c.(3058-3060)cAc>cCc	p.H1020P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1020					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTGTCAGGGTGGAAGTCATC	0.637																																						dbGAP											0													147.0	152.0	150.0					2																	128471406		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3059A>C	2.37:g.128471406T>G	ENSP00000325377:p.His1020Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1020P	ENST00000322313.4	37	c.3059	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683526	0.68157	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.81	5.81	0.92471	.	0.139606	0.50627	D	0.000109	T	0.78559	0.4302	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73953	-0.3820	10	0.30854	T	0.27	-1.3557	12.0649	0.53581	0.0:0.0:0.1436:0.8564	.	1020	Q9C0J8	WDR33_HUMAN	P	1020	ENSP00000325377:H1020P	ENSP00000325377:H1020P	H	-	2	0	WDR33	128187876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.173000	0.50839	2.210000	0.71456	0.533000	0.62120	CAC	WDR33	-	NULL	ENSG00000136709		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	166	0.00	0	T	NM_018383		128471406	128471406	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	missense	129	16.77	26	SNP	1.000	G
WDR33	55339	genome.wustl.edu	37	2	128522231	128522231	+	Intron	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:128522231T>G	ENST00000322313.4	-	6	785				WDR33_ENST00000409658.3_Missense_Mutation_p.H266P|WDR33_ENST00000393006.1_Intron	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTCAGAAAGGTGCCAGCAAAA	0.408																																						dbGAP											0													37.0	41.0	39.0					2																	128522231		1302	2292	3594	-	-	-	SO:0001627	intron_variant	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.626+170A>C	2.37:g.128522231T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H266P	ENST00000322313.4	37	c.797	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	T	13.95	2.390037	0.42410	.	.	ENSG00000136709	ENST00000409658	T	0.37411	1.2	5.7	3.33	0.38152	.	.	.	.	.	T	0.26557	0.0649	.	.	.	0.23978	N	0.996281	P	0.42620	0.785	B	0.34991	0.193	T	0.08659	-1.0711	8	0.87932	D	0	.	8.7475	0.34596	0.0:0.1481:0.0:0.8519	.	266	Q9C0J8-2	.	P	266	ENSP00000387186:H266P	ENSP00000387186:H266P	H	-	2	0	WDR33	128238701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.975000	0.49281	0.440000	0.26502	0.533000	0.62120	CAC	WDR33	-	NULL	ENSG00000136709		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	46	0.00	0	T	NM_018383		128522231	128522231	-1	no_errors	ENST00000409658	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	G
WDR44	54521	genome.wustl.edu	37	X	117527137	117527137	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:117527137A>C	ENST00000254029.3	+	4	1124	c.729A>C	c.(727-729)ccA>ccC	p.P243P	WDR44_ENST00000371825.3_Silent_p.P243P|WDR44_ENST00000371822.5_Silent_p.P218P|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	243	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTAATTTCCCACCTCCTAGAC	0.507																																						dbGAP											0													125.0	124.0	125.0					X																	117527137		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.729A>C	X.37:g.117527137A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T143P	ENST00000254029.3	37	c.427	CCDS14572.1	X	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258636	0.23051	.	.	ENSG00000131725	ENST00000371848	.	.	.	5.51	-3.81	0.04294	.	.	.	.	.	T	0.39784	0.1091	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37430	-0.9706	4	.	.	.	-8.0334	3.2755	0.06897	0.3788:0.0939:0.3888:0.1385	.	.	.	.	P	143	.	.	T	+	1	0	WDR44	117411165	0.856000	0.29760	0.996000	0.52242	0.947000	0.59692	0.065000	0.14466	-0.339000	0.08401	-0.335000	0.08231	ACC	WDR44	-	NULL	ENSG00000131725		0.507	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	527	0.38	2	A	NM_019045		117527137	117527137	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000371848	ensembl	human	known	69_37n	missense	499	17.87	109	SNP	0.943	C
WDR46	9277	genome.wustl.edu	37	6	33256955	33256955	+	5'UTR	SNP	A	A	C	rs564007476		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:33256955A>C	ENST00000374617.4	-	0	349				PFDN6_ENST00000374606.5_5'Flank|RGL2_ENST00000437840.2_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46								poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CATCTCGCCCACCCGAACGGC	0.582																																						dbGAP											0													83.0	79.0	80.0					6																	33256955		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.-8T>G	6.37:g.33256955A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	RNA	SNP	-	NULL	ENST00000374617.4	37	NULL	CCDS4772.1	6																																																																																			WDR46	-	-	ENSG00000227057		0.582	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2	62	0.00	0	A	NM_005452		33256955	33256955	-1	no_errors	ENST00000468157	ensembl	human	known	69_37n	rna	45	23.73	14	SNP	0.002	C
WDR47	22911	genome.wustl.edu	37	1	109514140	109514140	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109514140A>C	ENST00000369962.3	-	15	2894	c.2672T>G	c.(2671-2673)gTg>gGg	p.V891G	WDR47_ENST00000361054.3_Missense_Mutation_p.V863G|WDR47_ENST00000357672.3_Missense_Mutation_p.V863G|WDR47_ENST00000369965.4_Missense_Mutation_p.V892G|WDR47_ENST00000400794.3_Missense_Mutation_p.V899G			O94967	WDR47_HUMAN	WD repeat domain 47	891					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GCACTGAATCACTTTGTCCTT	0.458																																						dbGAP											0													178.0	161.0	167.0					1																	109514140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2672T>G	1.37:g.109514140A>C	ENSP00000358979:p.Val891Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V899G	ENST00000369962.3	37	c.2696	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173769	0.78452	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.99;0.993;0.999;0.977	D	0.87087	0.2170	10	0.87932	D	0	-12.0872	16.4237	0.83790	1.0:0.0:0.0:0.0	.	863;899;891;892	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	G	899;891;863;892;863	ENSP00000383599:V899G;ENSP00000358979:V891G;ENSP00000354339:V863G;ENSP00000358982:V892G;ENSP00000350301:V863G	ENSP00000350301:V863G	V	-	2	0	WDR47	109315663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	GTG	WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085433		0.458	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	108	0.92	1	A	NM_014969		109514140	109514140	-1	no_errors	ENST00000400794	ensembl	human	known	69_37n	missense	127	13.01	19	SNP	1.000	C
WDR47	22911	genome.wustl.edu	37	1	109553707	109553707	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:109553707T>G	ENST00000369962.3	-	5	1183	c.961A>C	c.(961-963)Acc>Ccc	p.T321P	WDR47_ENST00000361054.3_Missense_Mutation_p.T293P|WDR47_ENST00000357672.3_Missense_Mutation_p.T293P|WDR47_ENST00000369965.4_Missense_Mutation_p.T321P|WDR47_ENST00000400794.3_Missense_Mutation_p.T328P			O94967	WDR47_HUMAN	WD repeat domain 47	321					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGTCCACAGGTGAGGCCATCT	0.448																																						dbGAP											0													230.0	253.0	245.0					1																	109553707		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.961A>C	1.37:g.109553707T>G	ENSP00000358979:p.Thr321Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T328P	ENST00000369962.3	37	c.982	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812676	0.32053	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.56611	0.45;0.49;0.46;0.45;0.46	5.33	5.33	0.75918	.	0.118916	0.64402	D	0.000020	T	0.24470	0.0593	N	0.08118	0	0.42372	D	0.992456	B;B;B;B	0.31859	0.13;0.181;0.181;0.343	B;B;B;B	0.41332	0.194;0.134;0.134;0.354	T	0.29971	-0.9994	10	0.51188	T	0.08	-6.8508	10.334	0.43839	0.1841:0.0:0.0:0.8159	.	293;328;321;321	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	P	328;321;293;321;293	ENSP00000383599:T328P;ENSP00000358979:T321P;ENSP00000354339:T293P;ENSP00000358982:T321P;ENSP00000350301:T293P	ENSP00000350301:T293P	T	-	1	0	WDR47	109355230	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	5.183000	0.65065	2.005000	0.58758	0.383000	0.25322	ACC	WDR47	-	NULL	ENSG00000085433		0.448	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	317	0.31	1	T	NM_014969		109553707	109553707	-1	no_errors	ENST00000400794	ensembl	human	known	69_37n	missense	252	10.80	31	SNP	1.000	G
CFAP44	55779	genome.wustl.edu	37	3	113122819	113122819	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:113122819A>C	ENST00000295868.2	-	9	1212	c.1050T>G	c.(1048-1050)ggT>ggG	p.G350G	WDR52_ENST00000393845.2_Silent_p.G350G|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGATCAGACCACCTTCCCAAA	0.448																																						dbGAP											0													215.0	196.0	202.0					3																	113122819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000295868.2:c.1050T>G	3.37:g.113122819A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G350	ENST00000295868.2	37	c.1050	CCDS2972.1	3																																																																																			WDR52	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000206530		0.448	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	323	0.31	1	A			113122819	113122819	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	silent	219	13.62	35	SNP	0.001	C
CFAP57	149465	genome.wustl.edu	37	1	43675624	43675624	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:43675624A>C	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Missense_Mutation_p.T656P	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGTCCCACACCTGCCTGCT	0.512																																						dbGAP											0													230.0	205.0	213.0					1																	43675624		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0																														ENST00000372492.4:c.1929+37A>C	1.37:g.43675624A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T656P	ENST00000372492.4	37	c.1966		1	.	.	.	.	.	.	.	.	.	.	a	10.64	1.408312	0.25378	.	.	ENSG00000243710	ENST00000528956	T	0.37915	1.17	4.6	3.49	0.39957	.	2.762380	0.01829	N	0.034593	T	0.25344	0.0616	.	.	.	0.09310	N	1	B	0.27068	0.167	B	0.22753	0.041	T	0.18178	-1.0345	8	.	.	.	.	5.7935	0.18373	0.8593:0.0:0.1407:0.0	.	656	Q96MR6-2	.	P	656	ENSP00000435310:T656P	.	T	+	1	0	WDR65	43448211	0.000000	0.05858	0.030000	0.17652	0.013000	0.08279	0.805000	0.27112	0.949000	0.37715	0.444000	0.29173	ACC	WDR65	-	NULL	ENSG00000243710		0.512	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	280	0.71	2	A			43675624	43675624	+1	no_errors	ENST00000528956	ensembl	human	known	69_37n	missense	232	18.31	52	SNP	0.008	C
WDR70	55100	genome.wustl.edu	37	5	37701206	37701206	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:37701206A>C	ENST00000265107.4	+	12	1395	c.1239A>C	c.(1237-1239)ccA>ccC	p.P413P	WDR70_ENST00000510699.1_3'UTR|RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	413							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAATAAACCACTTTTTTCAG	0.348																																						dbGAP											0													94.0	97.0	96.0					5																	37701206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1239A>C	5.37:g.37701206A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H053	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P413	ENST00000265107.4	37	c.1239	CCDS34147.1	5																																																																																			WDR70	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000082068		0.348	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	110	0.00	0	A	NM_018034		37701206	37701206	+1	no_errors	ENST00000265107	ensembl	human	known	69_37n	silent	82	18.63	19	SNP	1.000	C
WDR92	116143	genome.wustl.edu	37	2	68371769	68371769	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:68371769A>C	ENST00000295121.6	-	3	479	c.363T>G	c.(361-363)ggT>ggG	p.G121G	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Silent_p.G121G|WDR92_ENST00000406245.2_Silent_p.G20G	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	121					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TTCCTAGTCCACCTATGCCAT	0.378																																						dbGAP											0													125.0	126.0	126.0					2																	68371769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.363T>G	2.37:g.68371769A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CR6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G121	ENST00000295121.6	37	c.363	CCDS1884.1	2																																																																																			WDR92	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000243667		0.378	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR92	HGNC	protein_coding	OTTHUMT00000251754.2	223	0.00	0	A	NM_138458		68371769	68371769	-1	no_errors	ENST00000295121	ensembl	human	known	69_37n	silent	162	10.99	20	SNP	0.991	C
WEE2	494551	genome.wustl.edu	37	7	141408695	141408695	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141408695T>G	ENST00000397541.2	+	1	543	c.137T>G	c.(136-138)gTg>gGg	p.V46G	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	46					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AAGGGTGAAGTGCAGGATTCA	0.473																																						dbGAP											0													172.0	173.0	173.0					7																	141408695		1967	4148	6115	-	-	-	SO:0001583	missense	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.137T>G	7.37:g.141408695T>G	ENSP00000380675:p.Val46Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		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.V46G	ENST00000397541.2	37	c.137	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	t	5.884	0.347284	0.11126	.	.	ENSG00000214102	ENST00000397541	T	0.24151	1.87	4.51	-9.02	0.00741	.	0.995923	0.08130	N	0.993321	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36237	-0.9756	10	0.26408	T	0.33	11.7459	10.7967	0.46464	0.0:0.3412:0.4762:0.1826	.	46	P0C1S8	WEE2_HUMAN	G	46	ENSP00000380675:V46G	ENSP00000380675:V46G	V	+	2	0	WEE2	141055164	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.795000	0.01752	-3.085000	0.00249	-1.234000	0.01563	GTG	WEE2	-	pirsf_Wee1-like_protein_kinase	ENSG00000214102		0.473	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	348	0.57	2	T	NM_001105558		141408695	141408695	+1	no_errors	ENST00000397541	ensembl	human	known	69_37n	missense	455	11.26	58	SNP	0.000	G
WEE2	494551	genome.wustl.edu	37	7	141423063	141423063	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141423063A>C	ENST00000397541.2	+	6	1416	c.1010A>C	c.(1009-1011)cAc>cCc	p.H337P	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000484172.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCATGGTACACCTGGACATC	0.403																																						dbGAP											0													291.0	269.0	276.0					7																	141423063		1913	4136	6049	-	-	-	SO:0001583	missense	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1010A>C	7.37:g.141423063A>C	ENSP00000380675:p.His337Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		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.H337P	ENST00000397541.2	37	c.1010	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350084	0.82132	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;D	0.83075	-1.33;-1.68	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.95993	0.8695	H	0.99952	5.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98281	1.0508	10	0.87932	D	0	.	15.6738	0.77300	1.0:0.0:0.0:0.0	.	337	P0C1S8	WEE2_HUMAN	P	337;112	ENSP00000380675:H337P;ENSP00000420388:H112P	ENSP00000380675:H337P	H	+	2	0	WEE2	141069532	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.903000	0.92573	2.096000	0.63516	0.528000	0.53228	CAC	WEE2	-	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	ENSG00000214102		0.403	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	330	0.30	1	A	NM_001105558		141423063	141423063	+1	no_errors	ENST00000397541	ensembl	human	known	69_37n	missense	222	14.29	37	SNP	1.000	C
WEE2	494551	genome.wustl.edu	37	7	141423076	141423076	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:141423076A>C	ENST00000397541.2	+	6	1429	c.1023A>C	c.(1021-1023)aaA>aaC	p.K341N	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000484172.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGACATCAAACCTAGTCAGT	0.413																																						dbGAP											0													279.0	257.0	264.0					7																	141423076		1908	4132	6040	-	-	-	SO:0001583	missense	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1023A>C	7.37:g.141423076A>C	ENSP00000380675:p.Lys341Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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.K341N	ENST00000397541.2	37	c.1023	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700258	0.68501	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	D;D	0.91124	-2.79;-2.79	5.54	1.49	0.22878	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.96605	0.8892	H	0.98682	4.3	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.95214	0.8328	10	0.87932	D	0	.	9.3008	0.37845	0.6302:0.0:0.3698:0.0	.	341	P0C1S8	WEE2_HUMAN	N	341;116	ENSP00000380675:K341N;ENSP00000420388:K116N	ENSP00000380675:K341N	K	+	3	2	WEE2	141069545	0.999000	0.42202	1.000000	0.80357	0.884000	0.51177	0.810000	0.27183	0.400000	0.25396	0.528000	0.53228	AAA	WEE2	-	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	ENSG00000214102		0.413	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	323	0.31	1	A	NM_001105558		141423076	141423076	+1	no_errors	ENST00000397541	ensembl	human	known	69_37n	missense	238	11.81	32	SNP	0.998	C
WFDC10B	280664	genome.wustl.edu	37	20	44333626	44333626	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:44333626A>C	ENST00000330523.5	-	0	32				WFDC10B_ENST00000335769.2_Missense_Mutation_p.V2G|WFDC13_ENST00000305479.2_Intron|MIR3617_ENST00000577518.1_RNA	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B							extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TTCACAAGACACCATCCTTTG	0.468																																						dbGAP											0													159.0	138.0	145.0					20																	44333626		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF454506	CCDS13365.1, CCDS13366.1	20q13.12	2013-01-21			ENSG00000182931	ENSG00000182931		"""WAP four-disulfide core domain containing"""	20479	protein-coding gene	gene with protein product						12206714	Standard	NM_172006		Approved	WAP12	uc002xpb.3	Q8IUB3	OTTHUMG00000130227	ENST00000330523.5:c.-199T>G	20.37:g.44333626A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVD7|Q0VAG0|Q0VAG1|Q5TGZ5|Q8IUB4	Missense_Mutation	SNP	NULL	p.V2G	ENST00000330523.5	37	c.5	CCDS13366.1	20	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241597	0.39598	.	.	ENSG00000182931	ENST00000335769	.	.	.	2.23	1.12	0.20585	.	.	.	.	.	T	0.53142	0.1778	.	.	.	0.09310	N	0.999997	D	0.65815	0.995	D	0.63703	0.917	T	0.38779	-0.9645	7	0.87932	D	0	.	3.9457	0.09347	0.8176:0.0:0.1824:0.0	.	2	Q8IUB3-2	.	G	2	.	ENSP00000337466:V2G	V	-	2	0	WFDC10B	43767040	0.003000	0.15002	0.152000	0.22495	0.733000	0.41908	0.784000	0.26816	0.319000	0.23209	0.459000	0.35465	GTG	WFDC10B	-	NULL	ENSG00000182931		0.468	WFDC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC10B	HGNC	protein_coding	OTTHUMT00000252547.1	275	0.36	1	A			44333626	44333626	-1	no_errors	ENST00000335769	ensembl	human	known	69_37n	missense	227	20.56	59	SNP	0.208	C
WIPI2	26100	genome.wustl.edu	37	7	5256252	5256252	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:5256252T>G	ENST00000288828.4	+	5	672	c.440T>G	c.(439-441)gTg>gGg	p.V147G	WIPI2_ENST00000404704.3_Missense_Mutation_p.V147G|WIPI2_ENST00000382384.2_Missense_Mutation_p.V129G|WIPI2_ENST00000484262.1_Missense_Mutation_p.V88G|WIPI2_ENST00000401525.3_Missense_Mutation_p.V129G	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	147					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GACATGAAGGTGCTGCATACG	0.493																																						dbGAP											0													144.0	119.0	128.0					7																	5256252		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.440T>G	7.37:g.5256252T>G	ENSP00000288828:p.Val147Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V147G	ENST00000288828.4	37	c.440	CCDS5339.1	7	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407855	0.62399	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.059102	0.64402	D	0.000002	D	0.88355	0.6414	M	0.86502	2.82	0.80722	D	1	D;P;D;D;D;P	0.71674	0.998;0.766;0.994;0.963;0.963;0.878	P;P;D;P;P;P	0.62955	0.854;0.491;0.909;0.706;0.706;0.512	D	0.90398	0.4400	10	0.66056	D	0.02	-27.1369	15.3976	0.74808	0.0:0.0:0.0:1.0	.	141;88;129;129;147;147	E7EVF6;Q9Y4P8-3;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;.;WIPI2_HUMAN	G	147;129;147;129;88;141	ENSP00000288828:V147G;ENSP00000384945:V129G;ENSP00000385297:V147G;ENSP00000371821:V129G;ENSP00000429654:V88G	ENSP00000288828:V147G	V	+	2	0	WIPI2	5222778	1.000000	0.71417	0.962000	0.40283	0.226000	0.24999	7.608000	0.82898	2.095000	0.63458	0.459000	0.35465	GTG	WIPI2	-	superfamily_WD40_repeat_dom	ENSG00000157954		0.493	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	63	0.00	0	T	NM_015610		5256252	5256252	+1	no_errors	ENST00000288828	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	G
WISP1	8840	genome.wustl.edu	37	8	134237704	134237704	+	Missense_Mutation	SNP	A	A	C	rs199564945		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:134237704A>C	ENST00000250160.6	+	4	788	c.682A>C	c.(682-684)Acc>Ccc	p.T228P	WISP1_ENST00000377863.2_Missense_Mutation_p.T56P|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T141P	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	228	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCTTGCTCCACCAGCTGCGG	0.597													A|||	1	0.000199681	0.0	0.0	5008	,	,		17649	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													64.0	68.0	67.0					8																	134237704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.682A>C	8.37:g.134237704A>C	ENSP00000250160:p.Thr228Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.T228P	ENST00000250160.6	37	c.682	CCDS6371.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	22.3	4.277709	0.80692	.	.	ENSG00000104415	ENST00000250160;ENST00000377863;ENST00000220856	T;T;T	0.53857	0.6;0.6;0.6	5.9	3.36	0.38483	.	0.153823	0.56097	D	0.000026	T	0.53270	0.1786	L	0.29908	0.895	0.28848	N	0.896189	D;D;D	0.69078	0.992;0.997;0.988	P;P;P	0.61800	0.894;0.891;0.828	T	0.49011	-0.8983	10	0.72032	D	0.01	-39.073	8.1001	0.30852	0.7946:0.1348:0.0706:0.0	.	56;141;228	Q5JBS7;O95388-2;O95388	.;.;WISP1_HUMAN	P	228;56;141	ENSP00000250160:T228P;ENSP00000367094:T56P;ENSP00000220856:T141P	ENSP00000220856:T141P	T	+	1	0	WISP1	134306886	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	3.552000	0.53705	1.035000	0.39972	0.523000	0.50628	ACC	WISP1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt	ENSG00000104415		0.597	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP1	HGNC	protein_coding	OTTHUMT00000378794.2	65	0.00	0	A	NM_003882		134237704	134237704	+1	no_errors	ENST00000250160	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	0.982	C
WISP2	8839	genome.wustl.edu	37	20	43355909	43355909	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:43355909A>C	ENST00000372868.2	+	5	1057	c.714A>C	c.(712-714)ccA>ccC	p.P238P	WISP2_ENST00000372865.4_Missense_Mutation_p.H156P|WISP2_ENST00000190983.4_Silent_p.P238P|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	238	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGCCCTGCCCACCCTCCAGGG	0.682																																						dbGAP											0													26.0	27.0	27.0					20																	43355909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.714A>C	20.37:g.43355909A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	pfam_IGFBP-like,smart_IGFBP-like	p.H156P	ENST00000372868.2	37	c.467	CCDS13336.1	20	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417559	0.25552	.	.	ENSG00000064205	ENST00000372865	T	0.63913	-0.07	3.51	-6.23	0.02052	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.21020	N	0.999805	B	0.28512	0.214	B	0.25140	0.058	T	0.19811	-1.0294	7	.	.	.	-37.8214	6.7483	0.23474	0.7277:0.0:0.149:0.1233	.	156	Q6PEG3	.	P	156	ENSP00000361956:H156P	.	H	+	2	0	WISP2	42789323	0.000000	0.05858	0.023000	0.16930	0.031000	0.12232	-1.868000	0.01644	-1.421000	0.02007	-2.156000	0.00330	CAC	WISP2	-	NULL	ENSG00000064205		0.682	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WISP2	HGNC	protein_coding	OTTHUMT00000127824.1	32	0.00	0	A	NM_003881		43355909	43355909	+1	no_errors	ENST00000372865	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.006	C
WISP3	8838	genome.wustl.edu	37	6	112386070	112386070	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:112386070A>C	ENST00000368666.2	+	3	745	c.459A>C	c.(457-459)acA>acC	p.T153T	WISP3_ENST00000230529.5_Silent_p.T153T|WISP3_ENST00000604763.1_Silent_p.T153T|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Silent_p.T130T|WISP3_ENST00000361714.1_Silent_p.T171T	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	153					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTGGATGCACACCTCTGTTCA	0.502																																						dbGAP											0													154.0	135.0	141.0					6																	112386070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.459A>C	6.37:g.112386070A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KR29|Q5H8W4|Q6UXH6	Silent	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.T171	ENST00000368666.2	37	c.513	CCDS5098.1	6																																																																																			WISP3	-	pirsf_IGFBP_CNN	ENSG00000112761		0.502	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	316	0.00	0	A	NM_003880		112386070	112386070	+1	no_errors	ENST00000361714	ensembl	human	known	69_37n	silent	194	11.36	25	SNP	0.001	C
WISP3	8838	genome.wustl.edu	37	6	112386121	112386121	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:112386121T>G	ENST00000368666.2	+	3	796	c.510T>G	c.(508-510)ggT>ggG	p.G170G	WISP3_ENST00000230529.5_Silent_p.G170G|WISP3_ENST00000604763.1_Silent_p.G170G|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Silent_p.G147G|WISP3_ENST00000361714.1_Silent_p.G188G	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	170					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GAGCTAAAGGTGGAAAGAAGT	0.493																																						dbGAP											0													130.0	122.0	125.0					6																	112386121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.510T>G	6.37:g.112386121T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KR29|Q5H8W4|Q6UXH6	Silent	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.G188	ENST00000368666.2	37	c.564	CCDS5098.1	6																																																																																			WISP3	-	pirsf_IGFBP_CNN	ENSG00000112761		0.493	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	290	0.34	1	T	NM_003880		112386121	112386121	+1	no_errors	ENST00000361714	ensembl	human	known	69_37n	silent	191	12.79	28	SNP	0.000	G
WIZ	58525	genome.wustl.edu	37	19	15537897	15537897	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:15537897A>C	ENST00000389282.4	-	6	3761	c.3548T>G	c.(3547-3549)gTg>gGg	p.V1183G	WIZ_ENST00000545156.1_Missense_Mutation_p.V497G|WIZ_ENST00000263381.7_Missense_Mutation_p.V326G|WIZ_ENST00000599910.2_Missense_Mutation_p.V500G|WIZ_ENST00000599686.3_Missense_Mutation_p.V367G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1183					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTTGATCTCCACCCGTATTTG	0.617																																						dbGAP											0													46.0	49.0	48.0					19																	15537897		1946	4136	6082	-	-	-	SO:0001583	missense	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3548T>G	19.37:g.15537897A>C	ENSP00000373933:p.Val1183Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1183G	ENST00000389282.4	37	c.3548		19	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513206	0.64522	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.31510	1.49;1.49;1.49	5.67	5.67	0.87782	.	0.310689	0.29715	N	0.011396	T	0.23688	0.0573	N	0.19112	0.55	0.54753	D	0.999987	P;B;B	0.42827	0.791;0.213;0.391	B;B;B	0.40864	0.342;0.076;0.079	T	0.05354	-1.0890	10	0.87932	D	0	-18.8235	13.4322	0.61062	1.0:0.0:0.0:0.0	.	1183;326;367	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	G	1183;326;367;497	ENSP00000373933:V1183G;ENSP00000263381:V326G;ENSP00000445824:V497G	ENSP00000263381:V326G	V	-	2	0	WIZ	15398897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.043000	0.71004	2.155000	0.67459	0.459000	0.35465	GTG	WIZ	-	NULL	ENSG00000011451		0.617	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		37	0.00	0	A	NM_021241		15537897	15537897	-1	no_errors	ENST00000389282	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	1.000	C
WLS	79971	genome.wustl.edu	37	1	68619305	68619305	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:68619305A>C	ENST00000262348.4	-	5	951	c.698T>G	c.(697-699)gTg>gGg	p.V233G	WLS_ENST00000540432.1_Missense_Mutation_p.V233G|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.V142G|WLS_ENST00000354777.2_Missense_Mutation_p.V231G	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	233					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GGCAAACCACACCTTGGTGAA	0.468																																						dbGAP											0													133.0	108.0	117.0					1																	68619305		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.698T>G	1.37:g.68619305A>C	ENSP00000262348:p.Val233Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.V233G	ENST00000262348.4	37	c.698	CCDS642.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.509215|4.509215	0.85282|0.85282	.|.	.|.	ENSG00000116729|ENSG00000116729	ENST00000534713|ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000533537;ENST00000530486;ENST00000370973	.|T;T;T;T;T;T;T	.|0.52526	.|0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61274|0.61274	0.2334|0.2334	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.994;0.995;0.999;0.994	T|T	0.67476|0.67476	-0.5661|-0.5661	5|10	.|0.87932	.|D	.|0	-20.961|-20.961	15.261|15.261	0.73621|0.73621	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|233;142;233;231	.|F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.|.;.;WLS_HUMAN;.	G|G	136|233;231;233;142;100;188;100	.|ENSP00000446112:V233G;ENSP00000346829:V231G;ENSP00000262348:V233G;ENSP00000360015:V142G;ENSP00000433690:V100G;ENSP00000433111:V188G;ENSP00000360012:V100G	.|ENSP00000262348:V233G	C|V	-|-	1|2	0|0	WLS|WLS	68391893|68391893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.109000|9.109000	0.94291|0.94291	2.007000|2.007000	0.58848|0.58848	0.460000|0.460000	0.39030|0.39030	TGT|GTG	WLS	-	NULL	ENSG00000116729		0.468	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	173	0.57	1	A	NM_024911		68619305	68619305	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	missense	130	13.25	20	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	977207	977207	+	Intron	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:977207A>C	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Missense_Mutation_p.H857P|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.H772P|WNK1_ENST00000574564.1_Missense_Mutation_p.H71P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAACTCACCACTTCCAACCC	0.547																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													124.0	125.0	125.0					12																	977207		1950	4139	6089	-	-	-	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3224A>C	12.37:g.977207A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H857P	ENST00000315939.6	37	c.2570	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	8.102	0.776796	0.16120	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.14893	2.47;2.47	5.15	5.15	0.70609	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.80722	D	1	P	0.45212	0.853	P	0.49999	0.628	T	0.00948	-1.1504	8	0.35671	T	0.21	.	15.1314	0.72527	1.0:0.0:0.0:0.0	.	857	F5H2M7	.	P	772;857	ENSP00000444465:H772P;ENSP00000433548:H857P	ENSP00000433548:H857P	H	+	2	0	WNK1	847468	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	6.973000	0.76116	2.159000	0.67721	0.383000	0.25322	CAC	WNK1	-	NULL	ENSG00000060237		0.547	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	216	0.00	0	A	NM_018979		977207	977207	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	197	11.16	25	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	989988	989988	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:989988T>C	ENST00000315939.6	+	12	3577	c.2934T>C	c.(2932-2934)ccT>ccC	p.P978P	WNK1_ENST00000530271.2_Silent_p.P1476P|WNK1_ENST00000340908.4_Silent_p.P571P|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Silent_p.P1238P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	978					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCTATCCCCTCCCATGCCGA	0.507																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													271.0	268.0	269.0					12																	989988		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2934T>C	12.37:g.989988T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	NULL	p.S145P	ENST00000315939.6	37	c.433	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	T	7.318	0.616320	0.14129	.	.	ENSG00000060237	ENST00000545285	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	T	0.71065	0.3296	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70092	-0.4967	4	.	.	.	-18.3758	14.6538	0.68817	0.0:0.0:0.0:1.0	.	.	.	.	P	145	.	.	S	+	1	0	WNK1	860249	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.852000	0.62904	2.257000	0.74773	0.528000	0.53228	TCC	WNK1	-	NULL	ENSG00000060237		0.507	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	455	0.44	2	T	NM_018979		989988	989988	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000545285	ensembl	human	novel	69_37n	missense	383	12.84	57	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	990015	990015	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:990015A>C	ENST00000315939.6	+	12	3604	c.2961A>C	c.(2959-2961)acA>acC	p.T987T	WNK1_ENST00000530271.2_Silent_p.T1485T|WNK1_ENST00000340908.4_Silent_p.T580T|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Silent_p.T1247T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	987					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACTGGCTACACCTGGGTACT	0.502																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													230.0	222.0	225.0					12																	990015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2961A>C	12.37:g.990015A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	NULL	p.T154P	ENST00000315939.6	37	c.460	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.356810	0.01245	.	.	ENSG00000060237	ENST00000545285	T	0.25414	1.8	5.6	0.0318	0.14172	.	1.002790	0.08033	N	0.993828	T	0.28962	0.0719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20739	-1.0266	7	0.34782	T	0.22	-0.0801	8.1914	0.31370	0.3028:0.6015:0.0957:0.0	.	.	.	.	P	154	ENSP00000446462:T154P	ENSP00000446462:T154P	T	+	1	0	WNK1	860276	1.000000	0.71417	0.976000	0.42696	0.063000	0.16089	1.185000	0.32065	0.121000	0.18284	0.528000	0.53228	ACC	WNK1	-	NULL	ENSG00000060237		0.502	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	382	0.26	1	A	NM_018979		990015	990015	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000545285	ensembl	human	novel	69_37n	missense	313	11.80	42	SNP	0.876	C
WNK1	65125	genome.wustl.edu	37	12	994743	994743	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:994743A>C	ENST00000315939.6	+	19	5416	c.4773A>C	c.(4771-4773)acA>acC	p.T1591T	WNK1_ENST00000530271.2_Silent_p.T2089T|WNK1_ENST00000340908.4_Silent_p.T1184T|WNK1_ENST00000535572.1_Silent_p.T1344T|WNK1_ENST00000537687.1_Silent_p.T1851T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1591					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTACTTCTACACCTTTATTAC	0.478																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													211.0	207.0	208.0					12																	994743		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4773A>C	12.37:g.994743A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T2089	ENST00000315939.6	37	c.6267	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	232	0.43	1	A	NM_018979		994743	994743	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	silent	240	12.41	34	SNP	0.815	C
WNK3	65267	genome.wustl.edu	37	X	54278051	54278051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:54278051G>A	ENST00000375159.2	-	13	2436	c.2437C>T	c.(2437-2439)Caa>Taa	p.Q813*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q813*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.Q813*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	813					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCCTGGGCTTGACCTACAATA	0.413																																						dbGAP											0													94.0	87.0	89.0					X																	54278051		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2437C>T	X.37:g.54278051G>A	ENSP00000364301:p.Gln813*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q813*	ENST00000375159.2	37	c.2437	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.443041	0.98286	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.31	5.31	0.75309	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-9.1525	16.7351	0.85445	0.0:0.0:1.0:0.0	.	.	.	.	X	813	.	ENSP00000346667:Q813X	Q	-	1	0	WNK3	54294776	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	3.221000	0.51215	2.212000	0.71576	0.422000	0.28245	CAA	WNK3	-	NULL	ENSG00000196632		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	71	0.00	0	G	NM_020922		54278051	54278051	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	nonsense	56	20.00	14	SNP	0.966	A
WNK3	65267	genome.wustl.edu	37	X	54359807	54359807	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:54359807A>C	ENST00000375159.2	-	1	299	c.300T>G	c.(298-300)ggT>ggG	p.G100G	WNK3_ENST00000375169.3_Silent_p.G100G|WNK3_ENST00000354646.2_Silent_p.G100G			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	100					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTTCTTGTCCACCTCTCAACA	0.368																																						dbGAP											0													131.0	119.0	123.0					X																	54359807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.300T>G	X.37:g.54359807A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G100	ENST00000375159.2	37	c.300	CCDS14357.1	X																																																																																			WNK3	-	NULL	ENSG00000196632		0.368	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	201	0.00	0	A	NM_020922		54359807	54359807	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	silent	193	10.60	23	SNP	0.869	C
WWOX	51741	genome.wustl.edu	37	16	78458843	78458843	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:78458843A>C	ENST00000566780.1	+	7	1048	c.682A>C	c.(682-684)Acc>Ccc	p.T228P	WWOX_ENST00000408984.3_Missense_Mutation_p.T228P|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	228	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CCTGGAGACCACCTTTCAAGT	0.507																																						dbGAP											0													210.0	213.0	212.0					16																	78458843		1967	4157	6124	-	-	-	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.682A>C	16.37:g.78458843A>C	ENSP00000457230:p.Thr228Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.T228P	ENST00000566780.1	37	c.682	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372811	0.61624	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.88046	-2.33	5.66	4.55	0.56014	NAD(P)-binding domain (1);	0.051750	0.85682	N	0.000000	D	0.93635	0.7967	M	0.87827	2.91	0.49483	D	0.999796	D	0.89917	1.0	D	0.79784	0.993	D	0.93769	0.7073	10	0.66056	D	0.02	.	12.8073	0.57619	0.8632:0.1368:0.0:0.0	.	228	Q9NZC7	WWOX_HUMAN	P	228;71	ENSP00000386161:T228P	ENSP00000299644:T71P	T	+	1	0	WWOX	77016344	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.962000	0.93254	0.939000	0.37446	0.533000	0.62120	ACC	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000186153		0.507	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	272	0.00	0	A			78458843	78458843	+1	no_errors	ENST00000566780	ensembl	human	known	69_37n	missense	213	16.34	42	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168102873	168102873	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:168102873T>G	ENST00000409195.1	+	9	5060	c.4971T>G	c.(4969-4971)ggT>ggG	p.G1657G	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.G1435G|XIRP2_ENST00000295237.9_Silent_p.G1657G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1482					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGTGAAAGGTGATGTACAAC	0.313																																						dbGAP											0													60.0	57.0	58.0					2																	168102873		1857	4086	5943	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4971T>G	2.37:g.168102873T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.G1657	ENST00000409195.1	37	c.4971	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.313	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	267	0.37	1	T	NM_152381		168102873	168102873	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	180	12.14	25	SNP	0.969	G
XIRP2	129446	genome.wustl.edu	37	2	168104946	168104946	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:168104946A>C	ENST00000409195.1	+	9	7133	c.7044A>C	c.(7042-7044)ccA>ccC	p.P2348P	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.P2126P|XIRP2_ENST00000295237.9_Silent_p.P2348P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2173					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCTTCCTCCACCTCCAGTAG	0.453																																						dbGAP											0													127.0	130.0	129.0					2																	168104946		1890	4112	6002	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7044A>C	2.37:g.168104946A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.P2348	ENST00000409195.1	37	c.7044	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	665	0.30	2	A	NM_152381		168104946	168104946	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	537	12.52	77	SNP	0.998	C
XK	7504	genome.wustl.edu	37	X	37587560	37587560	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:37587560T>G	ENST00000378616.3	+	3	1383	c.1180T>G	c.(1180-1182)Tgt>Ggt	p.C394G	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	394					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTGGCTCAGGTGTTTTTGCTG	0.463																																						dbGAP											0													82.0	78.0	80.0					X																	37587560		2202	4300	6502	-	-	-	SO:0001583	missense	0			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1180T>G	X.37:g.37587560T>G	ENSP00000367879:p.Cys394Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.C394G	ENST00000378616.3	37	c.1180	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	T	5.878	0.346091	0.11126	.	.	ENSG00000047597	ENST00000378616	T	0.66638	-0.22	5.57	3.08	0.35506	.	0.227940	0.53938	D	0.000045	T	0.48095	0.1481	L	0.32530	0.975	0.09310	N	1	P	0.44627	0.839	B	0.41088	0.347	T	0.33240	-0.9876	10	0.21540	T	0.41	-17.5741	3.5382	0.07802	0.1339:0.0759:0.1364:0.6539	.	394	P51811	XK_HUMAN	G	394	ENSP00000367879:C394G	ENSP00000367879:C394G	C	+	1	0	XK	37472499	0.956000	0.32656	0.001000	0.08648	0.017000	0.09413	2.190000	0.42630	0.231000	0.21079	0.417000	0.27973	TGT	XK	-	NULL	ENSG00000047597		0.463	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	319	0.62	2	T	NM_021083		37587560	37587560	+1	no_errors	ENST00000378616	ensembl	human	known	69_37n	missense	241	14.23	40	SNP	0.002	G
TSIX	9383	genome.wustl.edu	37	X	73045899	73045899	+	lincRNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:73045899A>C	ENST00000604411.1	+	0	33860				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGGCACAGTCACCCTTTCCAT	0.517																																						dbGAP											0													176.0	155.0	161.0					X																	73045899		876	1991	2867	-	-	-			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045899A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.517	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	214	0.00	0	A	NR_003255		73045899	73045899	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	248	12.37	35	SNP	0.010	C
XKR8	55113	genome.wustl.edu	37	1	28293094	28293094	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:28293094T>C	ENST00000373884.5	+	3	1179	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	191					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGCCTCCCCTCCAAGCCGCT	0.642																																						dbGAP											0													71.0	72.0	72.0					1																	28293094		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.571T>C	1.37:g.28293094T>C	ENSP00000362991:p.Ser191Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S191P	ENST00000373884.5	37	c.571	CCDS315.1	1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808076	0.70797	.	.	ENSG00000158156	ENST00000373884	T	0.63417	-0.04	5.19	-2.19	0.07015	.	0.266194	0.35936	N	0.002885	T	0.54159	0.1841	L	0.46157	1.445	0.24066	N	0.995996	P	0.43938	0.822	P	0.44673	0.457	T	0.56673	-0.7940	10	0.54805	T	0.06	.	11.5006	0.50435	0.1075:0.0:0.6814:0.2111	.	191	Q9H6D3	XKR8_HUMAN	P	191	ENSP00000362991:S191P	ENSP00000362991:S191P	S	+	1	0	XKR8	28165681	0.959000	0.32827	0.121000	0.21740	0.896000	0.52359	1.564000	0.36375	-0.030000	0.13804	0.496000	0.49642	TCC	XKR8	-	pfam_Transport_prot_XK	ENSG00000158156		0.642	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	54	0.00	0	T	NM_018053		28293094	28293094	+1	no_errors	ENST00000373884	ensembl	human	known	69_37n	missense	51	20.00	13	SNP	0.671	C
XKRX	402415	genome.wustl.edu	37	X	100183173	100183173	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:100183173T>G	ENST00000372956.2	-	1	725	c.121A>C	c.(121-123)Acc>Ccc	p.T41P	XKRX_ENST00000468904.1_Missense_Mutation_p.T41P|XKRX_ENST00000328526.5_Missense_Mutation_p.T54P			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TACAAAAAGGTGGAGAAAAGG	0.438																																						dbGAP											0													138.0	130.0	133.0					X																	100183173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.121A>C	X.37:g.100183173T>G	ENSP00000362047:p.Thr41Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.T54P	ENST00000372956.2	37	c.160	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541152	0.65085	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T;T	0.65178	-0.14;-0.14;-0.14	5.17	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.63843	1.955	0.52501	D	0.999958	D	0.76494	0.999	D	0.72338	0.977	T	0.71411	-0.4601	10	0.52906	T	0.07	-11.8203	9.3945	0.38394	0.0:0.0:0.1777:0.8223	.	41	Q6PP77	XKR2_HUMAN	P	54;41;41	ENSP00000327570:T54P;ENSP00000362047:T41P;ENSP00000419884:T41P	ENSP00000327570:T54P	T	-	1	0	XKRX	100069829	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.801000	0.62532	0.604000	0.29930	0.350000	0.21858	ACC	XKRX	-	pfam_Transport_prot_XK	ENSG00000182489		0.438	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	336	0.00	0	T	NM_212559		100183173	100183173	-1	no_errors	ENST00000328526	ensembl	human	known	69_37n	missense	261	17.09	54	SNP	1.000	G
XPC	7508	genome.wustl.edu	37	3	14197937	14197937	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:14197937T>G	ENST00000285021.7	-	10	2145	c.1931A>C	c.(1930-1932)cAc>cCc	p.H644P	XPC_ENST00000449060.2_Missense_Mutation_p.H607P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	644	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						ATACAGAGGGTGGTTCTTATA	0.498			"""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													139.0	132.0	134.0					3																	14197937		1975	4157	6132	-	-	-	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.1931A>C	3.37:g.14197937T>G	ENSP00000285021:p.His644Pro	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.H644P	ENST00000285021.7	37	c.1931	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425954	0.62733	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65549	-0.16;-0.16	5.73	5.73	0.89815	DNA repair protein Rad4, DNA-binding domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89361	0.3668	10	0.87932	D	0	-26.9546	14.5924	0.68378	0.0:0.0:0.0:1.0	.	607;644	E9PH69;Q01831	.;XPC_HUMAN	P	644;607	ENSP00000285021:H644P;ENSP00000404002:H607P	ENSP00000285021:H644P	H	-	2	0	XPC	14172939	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.549000	0.82163	2.185000	0.69588	0.460000	0.39030	CAC	XPC	-	pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	ENSG00000154767		0.498	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	225	0.88	2	T	NM_004628		14197937	14197937	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	missense	237	13.82	38	SNP	1.000	G
XPNPEP2	7512	genome.wustl.edu	37	X	128886315	128886315	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:128886315A>C	ENST00000371106.3	+	10	1203	c.1011A>C	c.(1009-1011)atA>atC	p.I337I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	337						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ATGAAATGATACCCAAGGTGG	0.522																																						dbGAP											0													104.0	87.0	93.0					X																	128886315		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1011A>C	X.37:g.128886315A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV16|O75994	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I337	ENST00000371106.3	37	c.1011	CCDS14613.1	X																																																																																			XPNPEP2	-	NULL	ENSG00000122121		0.522	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	163	0.00	0	A	NM_003399		128886315	128886315	+1	no_errors	ENST00000371106	ensembl	human	known	69_37n	silent	119	17.81	26	SNP	1.000	C
XPNPEP2	7512	genome.wustl.edu	37	X	128902310	128902310	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:128902310T>G	ENST00000371106.3	+	21	2066	c.1874T>G	c.(1873-1875)gTg>gGg	p.V625G		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	625						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CGGGAGAAGGTGGGTCCAGAG	0.607																																						dbGAP											0													76.0	69.0	71.0					X																	128902310		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1874T>G	X.37:g.128902310T>G	ENSP00000360147:p.Val625Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.V625G	ENST00000371106.3	37	c.1874	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572987	0.65765	.	.	ENSG00000122121	ENST00000371106	T	0.50548	0.74	4.54	4.54	0.55810	.	0.210200	0.39210	N	0.001427	T	0.72407	0.3456	M	0.93720	3.45	0.58432	D	0.999998	D	0.65815	0.995	D	0.63488	0.915	T	0.79247	-0.1882	10	0.87932	D	0	-11.5089	10.8168	0.46580	0.0:0.0:0.0:1.0	.	625	O43895	XPP2_HUMAN	G	625	ENSP00000360147:V625G	ENSP00000360147:V625G	V	+	2	0	XPNPEP2	128729991	1.000000	0.71417	0.992000	0.48379	0.805000	0.45488	5.888000	0.69758	1.676000	0.50930	0.481000	0.45027	GTG	XPNPEP2	-	NULL	ENSG00000122121		0.607	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	55	0.00	0	T	NM_003399		128902310	128902310	+1	no_errors	ENST00000371106	ensembl	human	known	69_37n	missense	68	18.82	16	SNP	0.742	G
XPO6	23214	genome.wustl.edu	37	16	28117482	28117482	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:28117482A>C	ENST00000304658.5	-	20	3166	c.2666T>G	c.(2665-2667)gTg>gGg	p.V889G	XPO6_ENST00000565698.1_Missense_Mutation_p.V875G	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	889					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAACTTCTCCACCACCCGGCA	0.587																																						dbGAP											0													53.0	61.0	59.0					16																	28117482		2005	4187	6192	-	-	-	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2666T>G	16.37:g.28117482A>C	ENSP00000302790:p.Val889Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V889G	ENST00000304658.5	37	c.2666	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800605	0.90538	.	.	ENSG00000169180	ENST00000304658	T	0.68181	-0.31	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.949;0.97	T	0.67772	-0.5584	10	0.26408	T	0.33	-19.0262	14.0983	0.65037	1.0:0.0:0.0:0.0	.	889;889	B7ZM10;Q96QU8	.;XPO6_HUMAN	G	889	ENSP00000302790:V889G	ENSP00000302790:V889G	V	-	2	0	XPO6	28024983	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.287000	0.95975	2.279000	0.76181	0.459000	0.35465	GTG	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	32	0.00	0	A	XM_055195		28117482	28117482	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	missense	30	24.39	10	SNP	1.000	C
XRCC5	7520	genome.wustl.edu	37	2	217012932	217012932	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:217012932A>C	ENST00000392133.3	+	16	2064	c.1603A>C	c.(1603-1605)Acc>Ccc	p.T535P	XRCC5_ENST00000392132.2_Missense_Mutation_p.T535P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	535					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TAAAATAAAGACCCTTTTTCC	0.418								Non-homologous end-joining																														dbGAP											0													86.0	87.0	87.0					2																	217012932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1603A>C	2.37:g.217012932A>C	ENSP00000375978:p.Thr535Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku	p.T535P	ENST00000392133.3	37	c.1603	CCDS2402.1	2	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488109	0.44249	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.29917	1.55;1.55	5.62	0.635	0.17723	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.284660	0.38272	N	0.001756	T	0.28732	0.0712	M	0.62723	1.935	0.34340	D	0.68865	B	0.29270	0.24	B	0.37989	0.262	T	0.20107	-1.0285	10	0.41790	T	0.15	.	3.312	0.07020	0.5665:0.0:0.2678:0.1657	.	535	P13010	XRCC5_HUMAN	P	535	ENSP00000375978:T535P;ENSP00000375977:T535P	ENSP00000375977:T535P	T	+	1	0	XRCC5	216721177	0.678000	0.27586	0.999000	0.59377	0.990000	0.78478	0.598000	0.24074	0.090000	0.17273	0.482000	0.46254	ACC	XRCC5	-	pfam_Ku_C,superfamily_SPOC-like	ENSG00000079246		0.418	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	489	0.41	2	A	NM_021141		217012932	217012932	+1	no_errors	ENST00000392132	ensembl	human	known	69_37n	missense	446	16.60	89	SNP	0.996	C
XYLT1	64131	genome.wustl.edu	37	16	17211580	17211580	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:17211580T>G	ENST00000261381.6	-	11	2564	c.2480A>C	c.(2479-2481)cAc>cCc	p.H827P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	827					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCCAGTGGTGGAGAATTTT	0.532																																						dbGAP											0													93.0	91.0	91.0					16																	17211580		2197	4300	6497	-	-	-	SO:0001583	missense	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2480A>C	16.37:g.17211580T>G	ENSP00000261381:p.His827Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H1B6	Missense_Mutation	SNP	pfam_XylT_met,pfam_Glyco_trans_14	p.H827P	ENST00000261381.6	37	c.2480	CCDS10569.1	16	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418739	0.83559	.	.	ENSG00000103489	ENST00000261381	T	0.04603	3.59	5.11	5.11	0.69529	.	0.090535	0.85682	D	0.000000	T	0.18593	0.0446	M	0.73598	2.24	0.80722	D	1	D	0.69078	0.997	D	0.62955	0.909	T	0.00374	-1.1780	10	0.49607	T	0.09	-34.7221	14.385	0.66938	0.0:0.0:0.0:1.0	.	827	Q86Y38	XYLT1_HUMAN	P	827	ENSP00000261381:H827P	ENSP00000261381:H827P	H	-	2	0	XYLT1	17119081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.993000	0.88291	2.035000	0.60131	0.460000	0.39030	CAC	XYLT1	-	NULL	ENSG00000103489		0.532	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	129	0.76	1	T	NM_022166		17211580	17211580	-1	no_errors	ENST00000261381	ensembl	human	known	69_37n	missense	151	15.17	27	SNP	1.000	G
YARS	8565	genome.wustl.edu	37	1	33245839	33245839	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:33245839A>C	ENST00000373477.4	-	11	2089	c.1181T>G	c.(1180-1182)gTg>gGg	p.V394G	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	394	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGCTTCCCCCACGTCAATCTT	0.567																																						dbGAP											0													184.0	159.0	167.0					1																	33245839		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1181T>G	1.37:g.33245839A>C	ENSP00000362576:p.Val394Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth	p.V394G	ENST00000373477.4	37	c.1181	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.929823	0.92389	.	.	ENSG00000134684	ENST00000373477	T	0.75704	-0.96	5.42	5.42	0.78866	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	H	0.96142	3.775	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	D	0.93455	0.6805	10	0.87932	D	0	-17.1724	15.7755	0.78209	1.0:0.0:0.0:0.0	.	394	P54577	SYYC_HUMAN	G	394	ENSP00000362576:V394G	ENSP00000362576:V394G	V	-	2	0	YARS	33018426	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.159000	0.77483	2.193000	0.70182	0.533000	0.62120	GTG	YARS	-	pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom	ENSG00000134684		0.567	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	126	0.79	1	A	NM_003680		33245839	33245839	-1	no_errors	ENST00000373477	ensembl	human	known	69_37n	missense	125	11.35	16	SNP	1.000	C
YARS	8565	genome.wustl.edu	37	1	33272120	33272120	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:33272120T>G	ENST00000373477.4	-	4	1381	c.473A>C	c.(472-474)cAc>cCc	p.H158P		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	158					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CAGCAAAGGGTGCTCCACCTG	0.532																																						dbGAP											0													175.0	162.0	167.0					1																	33272120		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.473A>C	1.37:g.33272120T>G	ENSP00000362576:p.His158Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth	p.H158P	ENST00000373477.4	37	c.473	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515590	0.64634	.	.	ENSG00000134684	ENST00000373477	T	0.71579	-0.58	4.82	4.82	0.62117	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.045241	0.85682	D	0.000000	T	0.71542	0.3352	L	0.48642	1.525	0.80722	D	1	P	0.43607	0.812	P	0.47915	0.561	T	0.75326	-0.3357	10	0.66056	D	0.02	-14.3734	14.7244	0.69332	0.0:0.0:0.0:1.0	.	158	P54577	SYYC_HUMAN	P	158	ENSP00000362576:H158P	ENSP00000362576:H158P	H	-	2	0	YARS	33044707	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.698000	0.84413	1.949000	0.56562	0.455000	0.32223	CAC	YARS	-	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth	ENSG00000134684		0.532	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	349	0.57	2	T	NM_003680		33272120	33272120	-1	no_errors	ENST00000373477	ensembl	human	known	69_37n	missense	252	11.81	34	SNP	1.000	G
YLPM1	56252	genome.wustl.edu	37	14	75230898	75230898	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75230898T>C	ENST00000552421.1	+	1	830	c.706T>C	c.(706-708)Tcc>Ccc	p.S236P	YLPM1_ENST00000325680.7_Missense_Mutation_p.S236P|YLPM1_ENST00000238571.3_Missense_Mutation_p.S236P			P49750	YLPM1_HUMAN	YLP motif containing 1	236					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCCCGCCCCTCCCAGGGCCA	0.572																																						dbGAP											0													85.0	88.0	87.0					14																	75230898		1916	4133	6049	-	-	-	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.706T>C	14.37:g.75230898T>C	ENSP00000447921:p.Ser236Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.S236P	ENST00000552421.1	37	c.706		14	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611971	0.28712	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.26223	1.75;1.75;1.75	4.4	4.4	0.53042	.	0.127072	0.36200	N	0.002730	T	0.28200	0.0696	N	0.14661	0.345	0.22796	N	0.998728	D	0.57899	0.981	D	0.68621	0.959	T	0.09357	-1.0678	10	0.25751	T	0.34	-5.5106	9.9658	0.41723	0.0:0.0:0.0:1.0	.	236	P49750-4	.	P	236	ENSP00000447921:S236P;ENSP00000324463:S236P;ENSP00000238571:S236P	ENSP00000238571:S236P	S	+	1	0	YLPM1	74300651	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	1.514000	0.35834	1.837000	0.53436	0.528000	0.53228	TCC	YLPM1	-	NULL	ENSG00000119596		0.572	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	99	0.00	0	T	NM_019589		75230898	75230898	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	1.000	C
YLPM1	56252	genome.wustl.edu	37	14	75247275	75247275	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75247275A>C	ENST00000552421.1	+	3	1402	c.1278A>C	c.(1276-1278)ccA>ccC	p.P426P	YLPM1_ENST00000325680.7_Silent_p.P426P|YLPM1_ENST00000238571.3_Silent_p.P426P			P49750	YLPM1_HUMAN	YLP motif containing 1	426	Gln-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TACAGCCCCCACCACATATAC	0.413																																						dbGAP											0													146.0	138.0	140.0					14																	75247275		1947	4156	6103	-	-	-	SO:0001819	synonymous_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1278A>C	14.37:g.75247275A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_FH2_actin-bd	p.P426	ENST00000552421.1	37	c.1278		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.413	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	371	0.00	0	A	NM_019589		75247275	75247275	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	silent	256	13.22	39	SNP	0.080	C
YLPM1	56252	genome.wustl.edu	37	14	75248351	75248351	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75248351T>C	ENST00000552421.1	+	4	1729	c.1605T>C	c.(1603-1605)ccT>ccC	p.P535P	YLPM1_ENST00000325680.7_Silent_p.P535P|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAATGCCCCCTCCAGTGTTGC	0.537																																						dbGAP											0													208.0	217.0	214.0					14																	75248351		2103	4203	6306	-	-	-	SO:0001819	synonymous_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1605T>C	14.37:g.75248351T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_FH2_actin-bd	p.P535	ENST00000552421.1	37	c.1605		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.537	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	474	0.84	4	T	NM_019589		75248351	75248351	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	silent	373	11.97	51	SNP	1.000	C
YLPM1	56252	genome.wustl.edu	37	14	75248378	75248378	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75248378A>C	ENST00000552421.1	+	4	1756	c.1632A>C	c.(1630-1632)ccA>ccC	p.P544P	YLPM1_ENST00000325680.7_Silent_p.P544P|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CATTGCCACCACCAGTGATGC	0.572																																						dbGAP											0													221.0	226.0	225.0					14																	75248378		2103	4212	6315	-	-	-	SO:0001819	synonymous_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1632A>C	14.37:g.75248378A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_FH2_actin-bd	p.P544	ENST00000552421.1	37	c.1632		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.572	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	511	0.39	2	A	NM_019589		75248378	75248378	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	silent	386	13.65	61	SNP	0.985	C
YLPM1	56252	genome.wustl.edu	37	14	75265528	75265528	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:75265528T>G	ENST00000325680.7	+	5	3652	c.3528T>G	c.(3526-3528)ggT>ggG	p.G1176G	YLPM1_ENST00000238571.3_Silent_p.G981G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	981	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGGAGATGGTGGGGAAAAAA	0.517																																						dbGAP											0													66.0	67.0	67.0					14																	75265528		1917	4122	6039	-	-	-	SO:0001819	synonymous_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3528T>G	14.37:g.75265528T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_FH2_actin-bd	p.G1176	ENST00000325680.7	37	c.3528	CCDS45135.1	14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.517	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	121	0.00	0	T	NM_019589		75265528	75265528	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	silent	104	20.61	27	SNP	1.000	G
YTHDC2	64848	genome.wustl.edu	37	5	112901617	112901617	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr5:112901617T>G	ENST00000161863.4	+	21	2956	c.2743T>G	c.(2743-2745)Tgg>Ggg	p.W915G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	915					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAGTGATGGGTGGGAGCGAGC	0.398																																						dbGAP											0													93.0	96.0	95.0					5																	112901617		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2743T>G	5.37:g.112901617T>G	ENSP00000161863:p.Trp915Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W915G	ENST00000161863.4	37	c.2743	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730331	0.48939	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02395	4.31	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.03783	0.0107	L	0.39397	1.21	0.80722	D	1	B	0.17852	0.024	B	0.19148	0.024	T	0.50154	-0.8861	10	0.24483	T	0.36	.	15.0991	0.72258	0.0:0.0:0.0:1.0	.	915	Q9H6S0	YTDC2_HUMAN	G	915;825	ENSP00000161863:W915G	ENSP00000161863:W915G	W	+	1	0	YTHDC2	112929516	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.819000	0.86621	1.968000	0.57251	0.460000	0.39030	TGG	YTHDC2	-	NULL	ENSG00000047188		0.398	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	219	0.45	1	T	NM_022828		112901617	112901617	+1	no_errors	ENST00000161863	ensembl	human	known	69_37n	missense	126	21.74	35	SNP	1.000	G
ZAK	51776	genome.wustl.edu	37	2	174055653	174055653	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:174055653T>G	ENST00000375213.3	+	6	522		c.e6+2		MLTK_ENST00000431503.2_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000338983.3_Splice_Site|MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GTATTGAAGGTAGGACTATTT	0.274																																						dbGAP											0													69.0	78.0	75.0					2																	174055653		2203	4297	6500	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000375213.3:c.444+2T>G	2.37:g.174055653T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Splice_Site	SNP	-	e5+2	ENST00000375213.3	37	c.444+2	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333132	0.81801	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC013461.1	173763899	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.949000	0.75971	2.371000	0.80710	0.533000	0.62120	.	AC013461.1	-	-	ENSG00000091436		0.274	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Clone_based_vega_gene	protein_coding	OTTHUMT00000255401.1	198	0.00	0	T		Intron	174055653	174055653	+1	no_errors	ENST00000375213	ensembl	human	known	69_37n	splice_site	145	12.65	21	SNP	1.000	G
ZAN	7455	genome.wustl.edu	37	7	100334213	100334213	+	RNA	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:100334213A>C	ENST00000348028.3	+	0	379				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCCTCTCCCACCGGCTCCAC	0.652																																						dbGAP											0													64.0	62.0	63.0					7																	100334213		1792	3866	5658	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334213A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.T72P	ENST00000348028.3	37	c.214		7	.	.	.	.	.	.	.	.	.	.	A	12.46	1.946096	0.34377	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02525	4.26;4.26;4.26	4.4	-2.57	0.06248	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.393600	0.05167	N	0.499019	T	0.05318	0.0141	L	0.60904	1.88	0.09310	N	0.999998	P;P	0.45396	0.828;0.857	B;B	0.43623	0.299;0.425	T	0.43196	-0.9406	10	0.87932	D	0	.	9.2724	0.37679	0.5277:0.0:0.4723:0.0	.	72;72	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	72	ENSP00000445943:T72P;ENSP00000445091:T72P;ENSP00000444427:T72P	ENSP00000423579:T72P	T	+	1	0	ZAN	100172149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.417000	0.21214	-0.570000	0.06022	-0.411000	0.06167	ACC	ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000146839		0.652	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	105	0.00	0	A	NM_003386		100334213	100334213	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	119	21.05	32	SNP	0.000	C
ZAP70	7535	genome.wustl.edu	37	2	98354250	98354250	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr2:98354250T>G	ENST00000264972.5	+	12	1728	c.1513T>G	c.(1513-1515)Tgg>Ggg	p.W505G	ZAP70_ENST00000442208.1_Missense_Mutation_p.W379G|ZAP70_ENST00000451498.2_Missense_Mutation_p.W198G|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCGCTCAAGTGGTACGCACC	0.637																																						dbGAP											0													106.0	115.0	112.0					2																	98354250		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1513T>G	2.37:g.98354250T>G	ENSP00000264972:p.Trp505Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.W505G	ENST00000264972.5	37	c.1513	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180590	0.78677	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.66638	-0.22;-0.22;-0.22	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.166535	0.29638	N	0.011598	D	0.88680	0.6502	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92508	0.6014	10	0.87932	D	0	.	13.0029	0.58687	0.0:0.0:0.0:1.0	.	379;505	P43403-3;P43403	.;ZAP70_HUMAN	G	505;379;198	ENSP00000264972:W505G;ENSP00000411141:W379G;ENSP00000400475:W198G	ENSP00000264972:W505G	W	+	1	0	ZAP70	97720682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.263000	0.72521	2.029000	0.59856	0.533000	0.62120	TGG	ZAP70	-	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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000115085		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	97	1.00	1	T			98354250	98354250	+1	no_errors	ENST00000264972	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	1.000	G
ZBP1	81030	genome.wustl.edu	37	20	56185301	56185301	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:56185301T>G	ENST00000371173.3	-	7	1174	c.997A>C	c.(997-999)Acc>Ccc	p.T333P	ZBP1_ENST00000343535.4_Missense_Mutation_p.T333P|ZBP1_ENST00000340462.4_Missense_Mutation_p.T310P|ZBP1_ENST00000395822.3_Missense_Mutation_p.T258P	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	333					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTGCCGATGGTGGCGTCCTCG	0.587																																						dbGAP											0													206.0	209.0	208.0					20																	56185301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.997A>C	20.37:g.56185301T>G	ENSP00000360215:p.Thr333Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.T333P	ENST00000371173.3	37	c.997	CCDS13461.1	20	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845860	0.32606	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.22336	2.33;1.96;2.34;2.3	4.03	-8.06	0.01102	.	2.106770	0.01999	N	0.046169	T	0.17238	0.0414	L	0.48642	1.525	0.09310	N	1	B;P;B	0.37864	0.38;0.61;0.38	B;B;B	0.29524	0.103;0.103;0.103	T	0.29274	-1.0017	10	0.72032	D	0.01	-2.9218	12.4876	0.55881	0.115:0.6632:0.0:0.2219	.	333;258;333	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	P	333;258;310;333;333	ENSP00000360215:T333P;ENSP00000379167:T258P;ENSP00000344954:T310P;ENSP00000340584:T333P	ENSP00000344954:T310P	T	-	1	0	ZBP1	55618707	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.303000	0.01135	-2.805000	0.00350	-1.934000	0.00508	ACC	ZBP1	-	NULL	ENSG00000124256		0.587	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	203	0.00	0	T	NM_030776		56185301	56185301	-1	no_errors	ENST00000343535	ensembl	human	known	69_37n	missense	184	11.48	24	SNP	0.000	G
ZBTB16	7704	genome.wustl.edu	37	11	114121049	114121049	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:114121049T>G	ENST00000335953.4	+	7	2174	c.1794T>G	c.(1792-1794)ggT>ggG	p.G598G	ZBTB16_ENST00000392996.2_Splice_Site_p.G598G|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	598					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCCCTCAGGTGAGAAGCCCT	0.627																																						dbGAP											0													85.0	75.0	79.0					11																	114121049		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1793-1T>G	11.37:g.114121049T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAL4	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G598	ENST00000335953.4	37	c.1794	CCDS8367.1	11																																																																																			ZBTB16	-	pfscan_Znf_C2H2	ENSG00000109906		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	168	0.00	0	T	NM_006006	Silent	114121049	114121049	+1	no_errors	ENST00000335953	ensembl	human	known	69_37n	silent	108	14.17	18	SNP	1.000	G
ZBTB38	253461	genome.wustl.edu	37	3	141162374	141162374	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:141162374A>C	ENST00000514251.1	+	4	1423	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P	ZBTB38_ENST00000321464.5_Missense_Mutation_p.T383P|ZBTB38_ENST00000441582.2_Missense_Mutation_p.T382P					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACAATTCACCACCCTGAACAG	0.488																																						dbGAP											0													138.0	135.0	136.0					3																	141162374		1942	4143	6085	-	-	-	SO:0001583	missense	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1144A>C	3.37:g.141162374A>C	ENSP00000426387:p.Thr382Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T383P	ENST00000514251.1	37	c.1147	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717592	0.48622	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.136846	0.46145	D	0.000320	D	0.88265	0.6390	M	0.75615	2.305	0.28248	N	0.925403	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.975	D	0.83591	0.0123	9	.	.	.	-29.9366	11.9259	0.52819	0.8549:0.1451:0.0:0.0	.	383;382	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	P	382;382;382;383	ENSP00000424254:T382P;ENSP00000426387:T382P;ENSP00000406955:T382P;ENSP00000372635:T383P	.	T	+	1	0	ZBTB38	142645064	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.530000	0.53539	2.179000	0.69175	0.482000	0.46254	ACC	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177311		0.488	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	277	0.71	2	A			141162374	141162374	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	missense	241	18.58	55	SNP	0.998	C
ZBTB39	9880	genome.wustl.edu	37	12	57398476	57398476	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr12:57398476T>G	ENST00000300101.2	-	2	311	c.226A>C	c.(226-228)Acc>Ccc	p.T76P		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTGGCAGGGGTGATGAAGTCC	0.527																																						dbGAP											0													114.0	112.0	113.0					12																	57398476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.226A>C	12.37:g.57398476T>G	ENSP00000300101:p.Thr76Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD38|Q9UD98	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.T76P	ENST00000300101.2	37	c.226	CCDS31839.1	12	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701308	0.48307	.	.	ENSG00000166860	ENST00000300101	T	0.70399	-0.48	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.052959	0.85682	D	0.000000	T	0.77618	0.4157	L	0.37466	1.105	0.49389	D	0.999784	D	0.76494	0.999	D	0.72338	0.977	T	0.79867	-0.1622	10	0.87932	D	0	-20.9796	14.335	0.66584	0.0:0.0:0.0:1.0	.	76	O15060	ZBT39_HUMAN	P	76	ENSP00000300101:T76P	ENSP00000300101:T76P	T	-	1	0	ZBTB39	55684743	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	4.964000	0.63701	2.271000	0.75665	0.459000	0.35465	ACC	ZBTB39	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000166860		0.527	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	HGNC	protein_coding	OTTHUMT00000411214.1	243	0.81	2	T	NM_014830		57398476	57398476	-1	no_errors	ENST00000300101	ensembl	human	known	69_37n	missense	117	16.90	24	SNP	1.000	G
ZBTB40	9923	genome.wustl.edu	37	1	22816815	22816815	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:22816815T>G	ENST00000375647.4	+	2	581	c.374T>G	c.(373-375)gTg>gGg	p.V125G	ZBTB40_ENST00000404138.1_Missense_Mutation_p.V125G|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V125G	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	125					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGGGTCAGGTGGTAAGGGAT	0.463																																						dbGAP											0													88.0	92.0	91.0					1																	22816815		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.374T>G	1.37:g.22816815T>G	ENSP00000364798:p.Val125Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V125G	ENST00000375647.4	37	c.374	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532134	0.45073	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.09163	3.01;3.01;3.13;3.03	4.94	3.81	0.43845	.	0.137320	0.32987	N	0.005409	T	0.12475	0.0303	M	0.62723	1.935	0.43896	D	0.996525	B;B	0.32829	0.386;0.267	B;B	0.36666	0.23;0.115	T	0.04373	-1.0956	10	0.87932	D	0	-17.0021	4.8831	0.13690	0.1655:0.0896:0.0:0.7449	.	125;125	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	G	125	ENSP00000384527:V125G;ENSP00000364798:V125G;ENSP00000383098:V125G;ENSP00000363782:V125G	ENSP00000363782:V125G	V	+	2	0	ZBTB40	22689402	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.548000	0.36201	1.978000	0.57642	0.482000	0.46254	GTG	ZBTB40	-	NULL	ENSG00000184677		0.463	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	231	0.43	1	T	NM_014870		22816815	22816815	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	missense	246	15.07	44	SNP	0.998	G
ZBTB40	9923	genome.wustl.edu	37	1	22838211	22838211	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:22838211T>G	ENST00000375647.4	+	11	2252	c.2045T>G	c.(2044-2046)gTg>gGg	p.V682G	ZBTB40_ENST00000404138.1_Missense_Mutation_p.V682G|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V570G	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	682					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACGTGGAAGGTGAGTAATAAA	0.433																																						dbGAP											0													53.0	52.0	53.0					1																	22838211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2045T>G	1.37:g.22838211T>G	ENSP00000364798:p.Val682Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V682G	ENST00000375647.4	37	c.2045	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620546	0.46736	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.58797	0.31;0.31;0.31	5.23	4.11	0.48088	.	0.310505	0.23273	N	0.049997	T	0.57080	0.2029	L	0.50333	1.59	0.53005	D	0.999964	P;P	0.51351	0.944;0.906	P;B	0.49887	0.625;0.421	T	0.58674	-0.7595	10	0.49607	T	0.09	-6.9565	9.4026	0.38442	0.0:0.0845:0.0:0.9155	.	570;682	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	G	682;682;570	ENSP00000384527:V682G;ENSP00000364798:V682G;ENSP00000363782:V570G	ENSP00000363782:V570G	V	+	2	0	ZBTB40	22710798	1.000000	0.71417	0.094000	0.20943	0.039000	0.13416	1.340000	0.33896	1.967000	0.57214	0.533000	0.62120	GTG	ZBTB40	-	NULL	ENSG00000184677		0.433	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	95	0.00	0	T	NM_014870		22838211	22838211	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	missense	50	29.58	21	SNP	0.682	G
ZBTB41	360023	genome.wustl.edu	37	1	197169225	197169225	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:197169225T>G	ENST00000367405.4	-	1	447	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	127	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGATCCAGGGTGACAACATCA	0.358																																						dbGAP											0													69.0	67.0	67.0					1																	197169225		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.379A>C	1.37:g.197169225T>G	ENSP00000356375:p.Thr127Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T127P	ENST00000367405.4	37	c.379	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521915	0.44866	.	.	ENSG00000177888	ENST00000367405	T	0.68479	-0.33	4.77	4.77	0.60923	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.44688	D	0.000428	T	0.66674	0.2813	L	0.46947	1.48	0.34984	D	0.75438	D	0.53462	0.96	P	0.51777	0.679	T	0.77122	-0.2704	10	0.87932	D	0	.	8.9483	0.35773	0.0:0.0841:0.0:0.9159	.	127	Q5SVQ8	ZBT41_HUMAN	P	127	ENSP00000356375:T127P	ENSP00000356375:T127P	T	-	1	0	ZBTB41	195435848	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.808000	0.62583	1.755000	0.51935	0.254000	0.18369	ACC	ZBTB41	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000177888		0.358	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	141	0.00	0	T	NM_194314		197169225	197169225	-1	no_errors	ENST00000367405	ensembl	human	known	69_37n	missense	210	10.55	25	SNP	1.000	G
ZBTB44	29068	genome.wustl.edu	37	11	130130903	130130903	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:130130903A>C	ENST00000357899.4	-	2	1138	c.866T>G	c.(865-867)gTc>gGc	p.V289G	ZBTB44_ENST00000397753.1_Missense_Mutation_p.V289G|ZBTB44_ENST00000530205.1_Missense_Mutation_p.V289G|ZBTB44_ENST00000525842.1_Missense_Mutation_p.V289G			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TTCTACTTTGACCCGGACATC	0.483																																						dbGAP											0													208.0	204.0	205.0					11																	130130903		2006	4179	6185	-	-	-	SO:0001583	missense	0			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.866T>G	11.37:g.130130903A>C	ENSP00000350574:p.Val289Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V289G	ENST00000357899.4	37	c.866		11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.22|18.22|18.22	3.576272|3.576272|3.576272	0.65878|0.65878|0.65878	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000338191|ENST00000529982;ENST00000338191|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|.|T;T;T;T;T	.|.|0.13778	.|.|2.56;2.9;2.62;2.9;2.56	5.13|5.13|5.13	5.13|5.13|5.13	0.70059|0.70059|0.70059	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	.|T|T	.|0.24431|0.24431	.|0.0592|0.0592	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D	.|.|0.76494	.|.|0.999;0.999;0.998;0.999	.|.|D;D;D;D	.|.|0.80764	.|.|0.994;0.994;0.981;0.994	.|T|T	.|0.03077|0.03077	.|-1.1075|-1.1075	.|6|10	.|0.59425|0.24483	.|D|T	.|0.04|0.36	.|.|.	14.9421|14.9421|14.9421	0.71003|0.71003|0.71003	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|289;289;289;289	.|.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.|.;.;ZBT44_HUMAN;.	.|A|G	-1|143;201|289	.|.|ENSP00000433457:V289G;ENSP00000380861:V289G;ENSP00000408079:V289G;ENSP00000350574:V289G;ENSP00000434177:V289G	.|ENSP00000341618:S201A|ENSP00000350574:V289G	.|S|V	-|-|-	.|1|2	.|0|0	ZBTB44|ZBTB44|ZBTB44	129636113|129636113|129636113	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	8.923000|8.923000|8.923000	0.92808|0.92808|0.92808	1.938000|1.938000|1.938000	0.56188|0.56188|0.56188	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	.|TCA|GTC	ZBTB44	-	NULL	ENSG00000196323		0.483	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	ZBTB44	HGNC	protein_coding	OTTHUMT00000386126.1	260	0.38	1	A	NM_014155		130130903	130130903	-1	no_errors	ENST00000357899	ensembl	human	known	69_37n	missense	188	12.56	27	SNP	1.000	C
ZBTB5	9925	genome.wustl.edu	37	9	37442334	37442334	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:37442334A>C	ENST00000307750.4	-	2	403	c.215T>G	c.(214-216)gTg>gGg	p.V72G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTCTGCTGTCACCACCTCGCT	0.542																																						dbGAP											0													233.0	169.0	190.0					9																	37442334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.215T>G	9.37:g.37442334A>C	ENSP00000307604:p.Val72Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		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.V72G	ENST00000307750.4	37	c.215	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457584	0.63401	.	.	ENSG00000168795	ENST00000307750	T	0.72051	-0.62	5.54	5.54	0.83059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	M	0.93062	3.375	0.80722	D	1	P	0.50369	0.934	P	0.55222	0.771	D	0.88861	0.3326	10	0.87932	D	0	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	72	O15062	ZBTB5_HUMAN	G	72	ENSP00000307604:V72G	ENSP00000307604:V72G	V	-	2	0	ZBTB5	37432334	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.646000	0.91053	2.326000	0.78906	0.533000	0.62120	GTG	ZBTB5	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000168795		0.542	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	79	0.00	0	A	NM_014872		37442334	37442334	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	1.000	C
ZC3H12B	340554	genome.wustl.edu	37	X	64721841	64721841	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:64721841T>G	ENST00000338957.4	+	5	1330	c.1263T>G	c.(1261-1263)ggT>ggG	p.G421G	ZC3H12B_ENST00000423889.3_Silent_p.G410G	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	421							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGCCAAAGGTGAGATAACCT	0.557																																						dbGAP											0													65.0	68.0	67.0					X																	64721841		2021	4165	6186	-	-	-	SO:0001819	synonymous_variant	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1263T>G	X.37:g.64721841T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.G421	ENST00000338957.4	37	c.1263	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL	ENSG00000102053		0.557	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	125	0.00	0	T	XM_293334		64721841	64721841	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	silent	81	19.80	20	SNP	0.995	G
ZC3H7B	23264	genome.wustl.edu	37	22	41735178	41735178	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr22:41735178A>C	ENST00000352645.4	+	9	1056	c.799A>C	c.(799-801)Acc>Ccc	p.T267P	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.T267P	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	283					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGAGCTGGACACCCTCCTGGA	0.662																																						dbGAP											0													92.0	75.0	81.0					22																	41735178		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.799A>C	22.37:g.41735178A>C	ENSP00000345793:p.Thr267Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T267P	ENST00000352645.4	37	c.799	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116387	0.56505	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12147	2.71;2.71	4.98	3.91	0.45181	.	0.297902	0.36740	N	0.002432	T	0.10766	0.0263	L	0.40543	1.245	0.37315	D	0.909291	B	0.10296	0.003	B	0.08055	0.003	T	0.10520	-1.0626	10	0.34782	T	0.22	-27.9726	7.753	0.28909	0.5444:0.0:0.0:0.4556	.	267	Q9UGR2-2	.	P	267	ENSP00000345793:T267P;ENSP00000263243:T267P	ENSP00000263243:T267P	T	+	1	0	ZC3H7B	40065124	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.146000	0.50631	1.853000	0.53794	0.459000	0.35465	ACC	ZC3H7B	-	NULL	ENSG00000100403		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	50	0.00	0	A	NM_017590		41735178	41735178	+1	no_errors	ENST00000351589	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	1.000	C
ZCCHC24	219654	genome.wustl.edu	37	10	81154121	81154121	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:81154121A>C	ENST00000372336.3	-	3	709	c.523T>G	c.(523-525)Tgc>Ggc	p.C175G	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.V115G|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	175							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTTCTCTTGCACTTGGGACAC	0.582																																						dbGAP											0													173.0	135.0	147.0					10																	81154121		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.523T>G	10.37:g.81154121A>C	ENSP00000361411:p.Cys175Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5T9|Q8TAG0	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.C175G	ENST00000372336.3	37	c.523	CCDS7359.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.70|17.70	3.454494|3.454494	0.63290|0.63290	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372336|ENST00000372333	T|.	0.73152|.	-0.72|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78780|0.78780	0.4337|0.4337	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999997|0.999997	D|D	0.69078|0.67145	0.997|0.996	D|D	0.81914|0.65010	0.995|0.931	T|T	0.82450|0.82450	-0.0451|-0.0451	9|8	.|0.87932	.|D	.|0	-5.4029|-5.4029	15.2624|15.2624	0.73634|0.73634	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	175|115	Q8N2G6|Q5W133	ZCH24_HUMAN|.	G|G	175|115	ENSP00000361411:C175G|.	.|ENSP00000361408:V115G	C|V	-|-	1|2	0|0	ZCCHC24|ZCCHC24	80824127|80824127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.946000|8.946000	0.92992|0.92992	2.006000|2.006000	0.58801|0.58801	0.421000|0.421000	0.28195|0.28195	TGC|GTG	ZCCHC24	-	NULL	ENSG00000165424		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	47	0.00	0	A	NM_153367		81154121	81154121	-1	no_errors	ENST00000372336	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	C
ZCCHC6	79670	genome.wustl.edu	37	9	88938451	88938451	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr9:88938451A>C	ENST00000375963.3	-	13	2386	c.2214T>G	c.(2212-2214)ggT>ggG	p.G738G	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Silent_p.G738G|ZCCHC6_ENST00000375960.2_Silent_p.G615G|ZCCHC6_ENST00000277141.6_Silent_p.G27G	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	738					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATACTTTATCACCCTTGTAAT	0.428																																						dbGAP											0													207.0	188.0	194.0					9																	88938451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2214T>G	9.37:g.88938451A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.G738	ENST00000375963.3	37	c.2214	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	184	0.00	0	A	NM_024617		88938451	88938451	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	silent	141	14.55	24	SNP	0.001	C
ZEB1	6935	genome.wustl.edu	37	10	31810831	31810831	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:31810831A>C	ENST00000320985.10	+	7	2678	c.2568A>C	c.(2566-2568)ccA>ccC	p.P856P	ZEB1_ENST00000560721.2_Silent_p.P836P|ZEB1_ENST00000542815.3_Silent_p.P789P|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.P857P|ZEB1_ENST00000446923.2_Silent_p.P840P			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	856					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCCAAGAACCACCCTTGAAAG	0.433																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													71.0	73.0	72.0					10																	31810831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2568A>C	10.37:g.31810831A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.P857	ENST00000320985.10	37	c.2571	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.433	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	215	0.46	1	A	NM_030751		31810831	31810831	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	silent	156	14.21	26	SNP	0.998	C
ZFHX3	463	genome.wustl.edu	37	16	72828688	72828688	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:72828688A>C	ENST00000268489.5	-	9	8565	c.7893T>G	c.(7891-7893)agT>agG	p.S2631R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1717R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2631					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCCTGTCCCACTGTCGTTTT	0.498																																						dbGAP											0													280.0	294.0	289.0					16																	72828688		2198	4300	6498	-	-	-	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7893T>G	16.37:g.72828688A>C	ENSP00000268489:p.Ser2631Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S2631R	ENST00000268489.5	37	c.7893	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	A	1.859	-0.463077	0.04476	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75260	-0.92;-0.9	5.64	-3.02	0.05446	Homeodomain-like (1);	0.000000	0.64402	D	0.000015	T	0.76162	0.3949	L	0.50333	1.59	0.52099	D	0.999946	D	0.65815	0.995	P	0.57911	0.829	T	0.75074	-0.3446	10	0.39692	T	0.17	.	15.6104	0.76713	0.4519:0.0:0.5481:0.0	.	2631	Q15911	ZFHX3_HUMAN	R	2631;1717	ENSP00000268489:S2631R;ENSP00000438926:S1717R	ENSP00000268489:S2631R	S	-	3	2	ZFHX3	71386189	0.616000	0.27035	0.916000	0.36221	0.395000	0.30598	0.155000	0.16362	-0.544000	0.06232	-0.441000	0.05720	AGT	ZFHX3	-	superfamily_Homeodomain-like	ENSG00000140836		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	268	0.74	2	A	NM_006885		72828688	72828688	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	missense	159	10.11	18	SNP	0.586	C
ZFHX3	463	genome.wustl.edu	37	16	72832472	72832472	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:72832472A>C	ENST00000268489.5	-	9	4781	c.4109T>G	c.(4108-4110)gTt>gGt	p.V1370G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V456G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1370					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTTTTGAAAACCTGGTTGCA	0.522																																						dbGAP											0													88.0	83.0	85.0					16																	72832472		2198	4300	6498	-	-	-	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4109T>G	16.37:g.72832472A>C	ENSP00000268489:p.Val1370Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.V1370G	ENST00000268489.5	37	c.4109	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	A	8.750	0.921042	0.17982	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.42900	0.96;0.96	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.147949	0.30519	N	0.009446	T	0.32071	0.0817	L	0.33624	1.015	0.80722	D	1	P	0.39326	0.668	B	0.38378	0.272	T	0.08932	-1.0698	10	0.26408	T	0.33	.	11.4368	0.50072	0.9303:0.0:0.0697:0.0	.	1370	Q15911	ZFHX3_HUMAN	G	1370;456	ENSP00000268489:V1370G;ENSP00000438926:V456G	ENSP00000268489:V1370G	V	-	2	0	ZFHX3	71389973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.210000	0.65214	2.279000	0.76181	0.459000	0.35465	GTT	ZFHX3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140836		0.522	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	197	0.00	0	A	NM_006885		72832472	72832472	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	missense	122	13.48	19	SNP	1.000	C
ZFHX4	79776	genome.wustl.edu	37	8	77776631	77776631	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr8:77776631A>C	ENST00000521891.2	+	11	11129	c.10681A>C	c.(10681-10683)Acc>Ccc	p.T3561P	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T3535P|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T3512P|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T3516P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTGTGCAGCACCTCAGGGGT	0.478										HNSCC(33;0.089)																												dbGAP											0													93.0	95.0	95.0					8																	77776631		2138	4279	6417	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10681A>C	8.37:g.77776631A>C	ENSP00000430497:p.Thr3561Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T3561P	ENST00000521891.2	37	c.10681	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869844	0.33069	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.63096	-0.02;0.06;0.0;-0.01	4.36	4.36	0.52297	.	0.000000	0.45867	U	0.000337	T	0.75102	0.3804	M	0.66939	2.045	0.54753	D	0.999988	D	0.71674	0.998	D	0.66351	0.943	T	0.78656	-0.2119	10	0.72032	D	0.01	.	14.0197	0.64545	1.0:0.0:0.0:0.0	.	3516	Q86UP3-4	.	P	3561;3545;3516;3512;3535	ENSP00000430497:T3561P;ENSP00000399605:T3516P;ENSP00000050961:T3512P;ENSP00000430848:T3535P	ENSP00000050961:T3512P	T	+	1	0	ZFHX4	77939186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.282000	0.78630	1.972000	0.57404	0.528000	0.53228	ACC	ZFHX4	-	NULL	ENSG00000091656		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	134	0.74	1	A	NM_024721		77776631	77776631	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	135	17.18	28	SNP	1.000	C
ZFP14	57677	genome.wustl.edu	37	19	36831888	36831888	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:36831888A>C	ENST00000270001.7	-	5	955	c.840T>G	c.(838-840)ggT>ggG	p.G280G		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	280					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)					AGGGTTTCTCACCAGTGTGAA	0.428																																						dbGAP											0													91.0	98.0	96.0					19																	36831888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.840T>G	19.37:g.36831888A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD23	Silent	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.G280	ENST00000270001.7	37	c.840	CCDS33002.1	19																																																																																			ZFP14	-	pfscan_Znf_C2H2	ENSG00000142065		0.428	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	265	0.00	0	A	NM_020917		36831888	36831888	-1	no_errors	ENST00000270001	ensembl	human	known	69_37n	silent	209	14.29	35	SNP	0.606	C
ZFP42	132625	genome.wustl.edu	37	4	188924198	188924198	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr4:188924198T>G	ENST00000326866.4	+	4	645	c.237T>G	c.(235-237)ggT>ggG	p.G79G	ZFP42_ENST00000509524.1_Silent_p.G79G	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	79					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCATAAGGGGTGAGTTTTCTC	0.463																																						dbGAP											0													97.0	95.0	96.0					4																	188924198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.237T>G	4.37:g.188924198T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G79	ENST00000326866.4	37	c.237	CCDS3849.1	4																																																																																			ZFP42	-	NULL	ENSG00000179059		0.463	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	113	0.00	0	T	NM_174900		188924198	188924198	+1	no_errors	ENST00000326866	ensembl	human	known	69_37n	silent	72	20.65	19	SNP	0.996	G
ZFP57	346171	genome.wustl.edu	37	6	29643808	29643808	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:29643808A>C	ENST00000488757.1	-	2	302	c.152T>G	c.(151-153)gTg>gGg	p.V51G	ZFP57_ENST00000376883.1_Missense_Mutation_p.V31G|ZFP57_ENST00000376881.3_Missense_Mutation_p.V31G	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGTGAAATTCACTGCCACATC	0.438																																						dbGAP											0													190.0	212.0	204.0					6																	29643808		1377	2658	4035	-	-	-	SO:0001583	missense	0			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"""Zinc fingers, C2H2-type"", ""-"""	18791	protein-coding gene	gene with protein product		612192	"""chromosome 6 open reading frame 40"", ""zinc finger protein 57 homolog (mouse)"""	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.152T>G	6.37:g.29643808A>C	ENSP00000418259:p.Val51Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0S894|B0V254|B2RXJ7|Q5SSB1	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.V51G	ENST00000488757.1	37	c.152	CCDS43436.2	6	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862001	0.71949	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.04758	3.56;3.56;3.56	4.68	4.68	0.58851	.	0.000000	0.40064	N	0.001194	T	0.26376	0.0644	H	0.98089	4.145	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.46105	-0.9215	10	0.87932	D	0	-13.5009	12.3843	0.55323	1.0:0.0:0.0:0.0	.	51;31	Q9NU63-3;Q9NU63-2	.;.	G	51;31;31	ENSP00000418259:V51G;ENSP00000366078:V31G;ENSP00000366080:V31G	ENSP00000366078:V31G	V	-	2	0	ZFP57	29751787	0.898000	0.30612	0.861000	0.33841	0.984000	0.73092	5.760000	0.68793	2.088000	0.63022	0.533000	0.62120	GTG	ZFP57	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000204644		0.438	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000355773.1	266	0.00	0	A	XM_294093		29643808	29643808	-1	no_errors	ENST00000488757	ensembl	human	known	69_37n	missense	231	10.73	28	SNP	0.894	C
ZFP90	146198	genome.wustl.edu	37	16	68592013	68592013	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:68592013A>C	ENST00000570495.1	+	3	438	c.146A>C	c.(145-147)cAc>cCc	p.H49P	ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000398253.2_Missense_Mutation_p.H49P|ZFP90_ENST00000563169.2_Missense_Mutation_p.H49P|ZFP90_ENST00000564323.1_Missense_Mutation_p.H49P			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AACTATAGCCACCTGGTTTCT	0.498																																						dbGAP											0													119.0	120.0	120.0					16																	68592013		2194	4299	6493	-	-	-	SO:0001583	missense	0			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.146A>C	16.37:g.68592013A>C	ENSP00000460547:p.His49Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU00|B3KVE7|Q49AD1|Q96MQ6	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.H49P	ENST00000570495.1	37	c.146	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355258	0.61293	.	.	ENSG00000184939	ENST00000398253	T	0.01871	4.59	5.38	4.28	0.50868	Krueppel-associated box (4);	.	.	.	.	T	0.05273	0.0140	M	0.86420	2.815	0.30345	N	0.785354	B	0.06786	0.001	B	0.10450	0.005	T	0.04811	-1.0925	9	0.87932	D	0	-1.3972	5.8617	0.18752	0.7454:0.1696:0.0849:0.0	.	49	Q8TF47	ZFP90_HUMAN	P	49	ENSP00000381304:H49P	ENSP00000381304:H49P	H	+	2	0	ZFP90	67149514	0.002000	0.14202	1.000000	0.80357	0.989000	0.77384	0.558000	0.23469	0.976000	0.38417	0.482000	0.46254	CAC	ZFP90	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000184939		0.498	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	283	0.00	0	A	XM_085375		68592013	68592013	+1	no_errors	ENST00000398253	ensembl	human	known	69_37n	missense	282	10.38	33	SNP	1.000	C
ZFX	7543	genome.wustl.edu	37	X	24225830	24225830	+	Splice_Site	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:24225830T>G	ENST00000379177.1	+	8	1225	c.798T>G	c.(796-798)ggT>ggG	p.G266G	ZFX_ENST00000540034.1_Splice_Site_p.G305G|ZFX_ENST00000539115.1_Splice_Site_p.G37G|ZFX_ENST00000304543.5_Splice_Site_p.G266G|ZFX_ENST00000338565.3_Splice_Site_p.C216W|ZFX_ENST00000379188.3_Splice_Site_p.G266G|ZFX_ENST00000459724.1_3'UTR	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	266					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GATTGATAGGTGGAACTGTAG	0.358																																					Esophageal Squamous(20;306 562 7346 32868 37983)	dbGAP											0													178.0	142.0	154.0					X																	24225830		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.797-1T>G	X.37:g.24225830T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C216W	ENST00000379177.1	37	c.648	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070832	0.36566	.	.	ENSG00000005889	ENST00000338565	T	0.07216	3.21	5.62	3.25	0.37280	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18178	-1.0345	6	0.87932	D	0	.	0.3418	0.00335	0.2534:0.1706:0.1536:0.4224	.	.	.	.	W	216	ENSP00000343384:C216W	ENSP00000343384:C216W	C	+	3	2	ZFX	24135751	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	0.982000	0.29539	0.858000	0.35431	0.481000	0.45027	TGT	ZFX	-	NULL	ENSG00000005889		0.358	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	248	0.40	1	T	NM_003410	Silent	24225830	24225830	+1	no_errors	ENST00000338565	ensembl	human	known	69_37n	missense	234	11.03	29	SNP	1.000	G
ZFX	7543	genome.wustl.edu	37	X	24228424	24228424	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:24228424A>C	ENST00000379177.1	+	11	1776	c.1349A>C	c.(1348-1350)cAc>cCc	p.H450P	ZFX_ENST00000540034.1_Missense_Mutation_p.H489P|ZFX_ENST00000539115.1_Missense_Mutation_p.H221P|ZFX_ENST00000304543.5_Missense_Mutation_p.H450P|ZFX_ENST00000338565.3_Missense_Mutation_p.H400P|ZFX_ENST00000379188.3_Missense_Mutation_p.H450P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	450					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CATCCCGAACACCTTGCCAAG	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	dbGAP											0													164.0	137.0	146.0					X																	24228424		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1349A>C	X.37:g.24228424A>C	ENSP00000368475:p.His450Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H489P	ENST00000379177.1	37	c.1466	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324645	0.41197	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.49	5.49	0.81192	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.48840	0.1522	M	0.71920	2.185	0.52099	D	0.999947	P;B;P	0.45715	0.865;0.003;0.642	B;B;B	0.44044	0.439;0.017;0.179	T	0.55438	-0.8141	10	0.66056	D	0.02	-5.1659	14.6193	0.68572	1.0:0.0:0.0:0.0	.	489;172;450	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	P	221;450;172;450;450;489;400	ENSP00000438233:H221P;ENSP00000368486:H450P;ENSP00000368475:H450P;ENSP00000304985:H450P;ENSP00000441382:H489P;ENSP00000343384:H400P	ENSP00000304985:H450P	H	+	2	0	ZFX	24138345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.284000	0.95882	1.833000	0.53350	0.486000	0.48141	CAC	ZFX	-	pfscan_Znf_C2H2	ENSG00000005889		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	283	0.00	0	A	NM_003410		24228424	24228424	+1	no_errors	ENST00000540034	ensembl	human	known	69_37n	missense	230	11.54	30	SNP	1.000	C
ZFYVE1	53349	genome.wustl.edu	37	14	73437720	73437720	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:73437720T>G	ENST00000556143.1	-	12	2924	c.2204A>C	c.(2203-2205)cAc>cCc	p.H735P	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H735P|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H721P|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.H320P|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.H320P	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	735					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCGGCAGTGGTGCTTGGAGAG	0.627																																						dbGAP											0													91.0	85.0	87.0					14																	73437720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2204A>C	14.37:g.73437720T>G	ENSP00000450742:p.His735Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.H735P	ENST00000556143.1	37	c.2204	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669137	0.88348	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.01	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96313	0.9230	10	0.87932	D	0	-21.7937	14.7507	0.69522	0.0:0.0:0.0:1.0	.	735;735	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	P	735;721;735;320;320	ENSP00000452442:H735P;ENSP00000326921:H721P;ENSP00000450742:H735P;ENSP00000377757:H320P;ENSP00000452232:H320P	ENSP00000326921:H735P	H	-	2	0	ZFYVE1	72507473	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.891000	0.54761	0.533000	0.62120	CAC	ZFYVE1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000165861		0.627	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	57	0.00	0	T	NM_021260		73437720	73437720	-1	no_errors	ENST00000553891	ensembl	human	known	69_37n	missense	57	19.44	14	SNP	1.000	G
ZFYVE1	53349	genome.wustl.edu	37	14	73490943	73490943	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:73490943A>C	ENST00000556143.1	-	2	994	c.274T>G	c.(274-276)Tgc>Ggc	p.C92G	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C92G|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C92G	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	92					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CAGGTCTGGCACCTCACTATT	0.498																																						dbGAP											0													194.0	198.0	197.0					14																	73490943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.274T>G	14.37:g.73490943A>C	ENSP00000450742:p.Cys92Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.C92G	ENST00000556143.1	37	c.274	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298048	0.81025	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.75821	-0.88;-0.97;-0.96	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.918;0.994	T	0.82536	-0.0408	10	0.87932	D	0	-18.9313	15.3155	0.74074	1.0:0.0:0.0:0.0	.	92;92	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	G	92	ENSP00000452442:C92G;ENSP00000326921:C92G;ENSP00000450742:C92G	ENSP00000326921:C92G	C	-	1	0	ZFYVE1	72560696	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.761000	0.91691	2.211000	0.71520	0.524000	0.50904	TGC	ZFYVE1	-	superfamily_Growth_fac_rcpt	ENSG00000165861		0.498	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	210	0.00	0	A	NM_021260		73490943	73490943	-1	no_errors	ENST00000553891	ensembl	human	known	69_37n	missense	135	12.90	20	SNP	1.000	C
ZFYVE20	64145	genome.wustl.edu	37	3	15115623	15115623	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:15115623A>C	ENST00000253699.3	-	14	2634	c.2021T>G	c.(2020-2022)gTg>gGg	p.V674G	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V674G	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	674	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ATTCCCTGCCACTGCTTCCTC	0.557																																						dbGAP											0													141.0	146.0	145.0					3																	15115623		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.2021T>G	3.37:g.15115623A>C	ENSP00000253699:p.Val674Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.V674G	ENST00000253699.3	37	c.2021	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	A	0.129	-1.115951	0.01799	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.51574	0.7;0.7	5.27	-2.27	0.06846	.	1.189060	0.06007	N	0.648923	T	0.22513	0.0543	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12837	-1.0532	10	0.09084	T	0.74	-1.4396	0.3478	0.00344	0.2742:0.2475:0.2511:0.2273	.	674	Q9H1K0	RBNS5_HUMAN	G	674	ENSP00000253699:V674G;ENSP00000422551:V674G	ENSP00000253699:V674G	V	-	2	0	ZFYVE20	15090627	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.329000	0.07935	-0.675000	0.05246	-1.182000	0.01712	GTG	ZFYVE20	-	NULL	ENSG00000131381		0.557	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	156	0.00	0	A	NM_022340		15115623	15115623	-1	no_errors	ENST00000253699	ensembl	human	known	69_37n	missense	188	10.43	22	SNP	0.000	C
ZFYVE26	23503	genome.wustl.edu	37	14	68248166	68248166	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:68248166A>C	ENST00000347230.4	-	22	4591	c.4453T>G	c.(4453-4455)Tgg>Ggg	p.W1485G	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.W1485G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1485					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCAGGGGCCACCTGTCCACA	0.512																																						dbGAP											0													114.0	112.0	112.0					14																	68248166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4453T>G	14.37:g.68248166A>C	ENSP00000251119:p.Trp1485Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.W1485G	ENST00000347230.4	37	c.4453	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338533	0.81911	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.53857	0.77;0.6	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75525	-0.3287	10	0.87932	D	0	-10.6403	16.2025	0.82095	1.0:0.0:0.0:0.0	.	1485;1485	G3V2D8;Q68DK2	.;ZFY26_HUMAN	G	1485;1464;1485	ENSP00000251119:W1485G;ENSP00000450603:W1485G	ENSP00000251119:W1485G	W	-	1	0	ZFYVE26	67317919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.679000	0.91220	2.231000	0.72958	0.459000	0.35465	TGG	ZFYVE26	-	NULL	ENSG00000072121		0.512	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	120	0.82	1	A	NM_015346		68248166	68248166	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	100	19.35	24	SNP	1.000	C
ZFYVE26	23503	genome.wustl.edu	37	14	68252704	68252704	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:68252704A>C	ENST00000347230.4	-	18	3313	c.3175T>G	c.(3175-3177)Tgc>Ggc	p.C1059G	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.C1059G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1059					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTGATGCTGCACCGTGGAGGG	0.517																																						dbGAP											0													106.0	104.0	105.0					14																	68252704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3175T>G	14.37:g.68252704A>C	ENSP00000251119:p.Cys1059Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.C1059G	ENST00000347230.4	37	c.3175	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507234	0.27036	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.32753	1.6;1.44	5.38	0.184	0.15086	.	0.433697	0.29059	N	0.013278	T	0.30417	0.0764	M	0.66939	2.045	0.33791	D	0.625539	B;B	0.31548	0.328;0.22	B;B	0.39258	0.295;0.1	T	0.30592	-0.9973	10	0.66056	D	0.02	1.6411	3.7886	0.08710	0.5842:0.0:0.1488:0.267	.	1059;1059	G3V2D8;Q68DK2	.;ZFY26_HUMAN	G	1059;1038;1059	ENSP00000251119:C1059G;ENSP00000450603:C1059G	ENSP00000251119:C1059G	C	-	1	0	ZFYVE26	67322457	0.765000	0.28485	0.518000	0.27811	0.340000	0.28889	1.676000	0.37565	-0.215000	0.10063	0.533000	0.62120	TGC	ZFYVE26	-	NULL	ENSG00000072121		0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	167	0.00	0	A	NM_015346		68252704	68252704	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	145	15.12	26	SNP	0.992	C
ZHX3	23051	genome.wustl.edu	37	20	39831767	39831767	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:39831767T>G	ENST00000309060.3	-	4	2205	c.1790A>C	c.(1789-1791)cAc>cCc	p.H597P	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.H597P|ZHX3_ENST00000560361.1_Missense_Mutation_p.H597P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.H597P|ZHX3_ENST00000544979.2_Missense_Mutation_p.H597P|ZHX3_ENST00000432768.2_Missense_Mutation_p.H597P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	597					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGCAGAAGGGTGGGTTGCTAG	0.542																																						dbGAP											0													221.0	203.0	209.0					20																	39831767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1790A>C	20.37:g.39831767T>G	ENSP00000312222:p.His597Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.H597P	ENST00000309060.3	37	c.1790	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	T	6.489	0.458406	0.12342	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.11821	2.95;2.95;2.74	6.06	0.926	0.19430	.	0.409242	0.26352	N	0.024875	T	0.06280	0.0162	N	0.10809	0.05	0.20764	N	0.999855	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.39187	-0.9626	10	0.22706	T	0.39	-8.3277	9.259	0.37601	0.1162:0.0:0.3783:0.5055	.	597;597;597	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	P	597;597;597;597;375	ENSP00000362360:H597P;ENSP00000442290:H597P;ENSP00000443783:H597P	ENSP00000312222:H597P	H	-	2	0	ZHX3	39265181	0.280000	0.24249	0.902000	0.35471	0.952000	0.60782	0.625000	0.24477	0.156000	0.19299	0.528000	0.53228	CAC	ZHX3	-	NULL	ENSG00000174306		0.542	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	152	0.00	0	T	NM_015035		39831767	39831767	-1	no_errors	ENST00000373263	ensembl	human	known	69_37n	missense	108	18.80	25	SNP	0.229	G
ZKSCAN5	23660	genome.wustl.edu	37	7	99103756	99103756	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99103756T>G	ENST00000394170.2	+	2	340	c.89T>G	c.(88-90)gTg>gGg	p.V30G	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.V30G|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.V30G	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATAGTGAAGGTGGAAGAAGAA	0.498																																						dbGAP											0													103.0	101.0	102.0					7																	99103756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.89T>G	7.37:g.99103756T>G	ENSP00000377725:p.Val30Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V30G	ENST00000394170.2	37	c.89	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959647	0.74016	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.06687	3.27;3.27;3.27	4.93	3.78	0.43462	.	0.139815	0.32769	N	0.005672	T	0.19366	0.0465	M	0.81341	2.54	0.51012	D	0.999908	D;D	0.58620	0.983;0.983	P;P	0.53401	0.725;0.725	T	0.00761	-1.1577	10	0.87932	D	0	.	7.5389	0.27727	0.0:0.0963:0.0:0.9037	.	30;30	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	G	30	ENSP00000322872:V30G;ENSP00000392104:V30G;ENSP00000377725:V30G	ENSP00000322872:V30G	V	+	2	0	ZKSCAN5	98941692	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	3.700000	0.54786	1.017000	0.39495	0.459000	0.35465	GTG	ZKSCAN5	-	NULL	ENSG00000196652		0.498	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	169	0.00	0	T	NM_014569		99103756	99103756	+1	no_errors	ENST00000326775	ensembl	human	known	69_37n	missense	183	11.59	24	SNP	1.000	G
ZMIZ2	83637	genome.wustl.edu	37	7	44802918	44802918	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:44802918T>G	ENST00000309315.4	+	13	1889	c.1766T>G	c.(1765-1767)gTg>gGg	p.V589G	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V557G|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V563G|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V531G|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V589G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	589					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAGGACGGGGTGGAGCAGACA	0.582																																					NSCLC(20;604 852 1948 16908 50522)	dbGAP											0													101.0	115.0	110.0					7																	44802918		2185	4295	6480	-	-	-	SO:0001583	missense	0			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1766T>G	7.37:g.44802918T>G	ENSP00000311778:p.Val589Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.V589G	ENST00000309315.4	37	c.1766	CCDS43576.1	7	.	.	.	.	.	.	.	.	.	.	T	17.13	3.309914	0.60414	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.40756	1.05;1.02;1.02;1.04;1.07	4.82	4.82	0.62117	Zinc finger, MIZ-type (1);	0.252041	0.26696	N	0.022967	T	0.42200	0.1192	L	0.57536	1.79	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.003	B;B;B	0.18871	0.015;0.01;0.023	T	0.38866	-0.9641	10	0.59425	D	0.04	-12.5195	14.2601	0.66078	0.0:0.0:0.0:1.0	.	563;589;531	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	G	531;589;589;557;563;592	ENSP00000409648:V531G;ENSP00000311778:V589G;ENSP00000414723:V589G;ENSP00000396601:V557G;ENSP00000265346:V563G	ENSP00000265346:V563G	V	+	2	0	ZMIZ2	44769443	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.420000	0.80191	2.038000	0.60285	0.454000	0.30748	GTG	ZMIZ2	-	pfscan_Znf_MIZ	ENSG00000122515		0.582	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1	47	0.00	0	T	NM_031449		44802918	44802918	+1	no_errors	ENST00000309315	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	1.000	G
ZKSCAN5	23660	genome.wustl.edu	37	7	99117844	99117844	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:99117844A>G	ENST00000394170.2	+	5	940	c.689A>G	c.(688-690)gAg>gGg	p.E230G	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E230G|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E230G	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	230	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTCATCCTGGAGGAATGGGGG	0.438																																						dbGAP											0													133.0	133.0	133.0					7																	99117844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.689A>G	7.37:g.99117844A>G	ENSP00000377725:p.Glu230Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E230G	ENST00000394170.2	37	c.689	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950941	0.53186	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.03663	3.85;3.85;3.85	4.7	3.53	0.40419	Krueppel-associated box (4);	0.000000	0.49305	D	0.000141	T	0.06280	0.0162	M	0.75777	2.31	0.33720	D	0.616861	B	0.16603	0.018	B	0.20184	0.028	T	0.02352	-1.1172	10	0.66056	D	0.02	.	7.2794	0.26302	0.9004:0.0:0.0996:0.0	.	230	Q9Y2L8	ZKSC5_HUMAN	G	230	ENSP00000322872:E230G;ENSP00000392104:E230G;ENSP00000377725:E230G	ENSP00000322872:E230G	E	+	2	0	ZKSCAN5	98955780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.693000	0.37742	0.936000	0.37367	0.533000	0.62120	GAG	ZKSCAN5	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196652		0.438	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	117	0.85	1	A	NM_014569		99117844	99117844	+1	no_errors	ENST00000326775	ensembl	human	known	69_37n	missense	156	12.85	23	SNP	1.000	G
ZMYND10	51364	genome.wustl.edu	37	3	50381208	50381208	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:50381208A>C	ENST00000231749.3	-	3	1547	c.275T>G	c.(274-276)gTg>gGg	p.V92G	RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.V92G	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	92					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAGTCCTCCACCCTGCAGAA	0.572										TSP Lung(30;0.18)																												dbGAP											0													156.0	124.0	135.0					3																	50381208		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.275T>G	3.37:g.50381208A>C	ENSP00000231749:p.Val92Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.V92G	ENST00000231749.3	37	c.275	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905707	0.33628	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.27720	1.65;1.65;1.65	5.41	4.25	0.50352	.	0.141242	0.49305	D	0.000145	T	0.22244	0.0536	N	0.19112	0.55	0.48395	D	0.999647	B;B	0.24426	0.103;0.018	B;B	0.26094	0.066;0.018	T	0.03761	-1.1006	10	0.56958	D	0.05	-3.2812	12.7023	0.57041	0.8622:0.1378:0.0:0.0	.	92;92	O75800-2;O75800	.;ZMY10_HUMAN	G	92;92;49	ENSP00000231749:V92G;ENSP00000353289:V92G;ENSP00000393687:V49G	ENSP00000231749:V92G	V	-	2	0	ZMYND10	50356212	1.000000	0.71417	0.926000	0.36857	0.495000	0.33615	5.955000	0.70306	0.893000	0.36288	-0.386000	0.06593	GTG	ZMYND10	-	pirsf_UCP037948_Znf-MYND	ENSG00000004838		0.572	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	44	0.00	0	A	NM_015896		50381208	50381208	-1	no_errors	ENST00000231749	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	1.000	C
ZNF18	7566	genome.wustl.edu	37	17	11894407	11894407	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:11894407A>C	ENST00000322748.3	-	5	1065	c.461T>G	c.(460-462)gTg>gGg	p.V154G	ZNF18_ENST00000454073.3_Missense_Mutation_p.V154G|ZNF18_ENST00000580306.2_Missense_Mutation_p.V154G	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	154					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ATGGGGCTCCACTTCCCCCAC	0.478																																						dbGAP											0													169.0	171.0	170.0					17																	11894407		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.461T>G	17.37:g.11894407A>C	ENSP00000315664:p.Val154Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V154G	ENST00000322748.3	37	c.461	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	A	14.35	2.507919	0.44558	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.07688	3.21;3.17	5.77	-10.2	0.00374	.	1.320840	0.05119	N	0.490340	T	0.02767	0.0083	N	0.08118	0	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38585	-0.9654	10	0.13853	T	0.58	0.9685	4.7274	0.12948	0.1932:0.1064:0.4912:0.2091	.	154;154	P17022-2;P17022	.;ZNF18_HUMAN	G	154	ENSP00000391376:V154G;ENSP00000315664:V154G	ENSP00000315664:V154G	V	-	2	0	ZNF18	11835132	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	-0.367000	0.07553	-1.706000	0.01404	-0.408000	0.06270	GTG	ZNF18	-	NULL	ENSG00000154957		0.478	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	380	0.52	2	A	XM_085596		11894407	11894407	-1	no_errors	ENST00000322748	ensembl	human	known	69_37n	missense	324	10.71	39	SNP	0.000	C
ZNF202	7753	genome.wustl.edu	37	11	123601258	123601258	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:123601258A>C	ENST00000529691.1	-	2	558	c.339T>G	c.(337-339)agT>agG	p.S113R	ZNF202_ENST00000336139.4_Missense_Mutation_p.S113R|ZNF202_ENST00000530393.1_Missense_Mutation_p.S113R			O95125	ZN202_HUMAN	zinc finger protein 202	113	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCCTCGCCACTTTCTGGCC	0.582																																						dbGAP											0													101.0	97.0	98.0					11																	123601258		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.339T>G	11.37:g.123601258A>C	ENSP00000433881:p.Ser113Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S113R	ENST00000529691.1	37	c.339	CCDS8443.1	11	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618017	0.66787	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	4.57	-3.25	0.05079	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000029	T	0.13457	0.0326	M	0.92555	3.32	0.34720	D	0.728674	B	0.33883	0.43	B	0.31812	0.136	T	0.03818	-1.1001	10	0.87932	D	0	-17.2121	7.8807	0.29621	0.3413:0.1439:0.5148:0.0	.	113	O95125	ZN202_HUMAN	R	113	ENSP00000337724:S113R;ENSP00000432504:S113R;ENSP00000433881:S113R;ENSP00000431223:S113R	ENSP00000337724:S113R	S	-	3	2	ZNF202	123106468	0.000000	0.05858	0.941000	0.38009	0.893000	0.52053	-0.628000	0.05515	-0.915000	0.03823	0.374000	0.22700	AGT	ZNF202	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000166261		0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	215	0.46	1	A	NM_003455		123601258	123601258	-1	no_errors	ENST00000336139	ensembl	human	known	69_37n	missense	192	14.04	32	SNP	0.946	C
ZNF217	7764	genome.wustl.edu	37	20	52198428	52198428	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:52198428A>C	ENST00000371471.2	-	2	1363	c.938T>G	c.(937-939)gTg>gGg	p.V313G	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.V313G			O75362	ZN217_HUMAN	zinc finger protein 217	313					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGATTCCTTCACTTCTTGGCA	0.537																																						dbGAP											0													129.0	119.0	123.0					20																	52198428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.938T>G	20.37:g.52198428A>C	ENSP00000360526:p.Val313Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V313G	ENST00000371471.2	37	c.938	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	A	11.35	1.614038	0.28712	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09445	2.98;2.98	5.7	5.7	0.88788	.	0.527877	0.20515	N	0.090818	T	0.13884	0.0336	M	0.76002	2.32	0.47153	D	0.999332	B	0.27823	0.19	B	0.24006	0.05	T	0.06391	-1.0829	10	0.87932	D	0	-14.5139	6.3452	0.21345	0.7826:0.0:0.0755:0.1419	.	313	O75362	ZN217_HUMAN	G	313	ENSP00000360526:V313G;ENSP00000304308:V313G	ENSP00000304308:V313G	V	-	2	0	ZNF217	51631835	0.003000	0.15002	0.999000	0.59377	0.725000	0.41563	1.574000	0.36482	2.170000	0.68504	0.482000	0.46254	GTG	ZNF217	-	NULL	ENSG00000171940		0.537	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	151	0.00	0	A	NM_006526		52198428	52198428	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	missense	123	10.87	15	SNP	0.967	C
ZNF234	10780	genome.wustl.edu	37	19	44660426	44660426	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:44660426T>G	ENST00000426739.2	+	6	515	c.257T>G	c.(256-258)gTg>gGg	p.V86G	ZNF234_ENST00000592437.1_Missense_Mutation_p.V86G	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CAAAGTGAGGTGGAGACTGTT	0.428																																						dbGAP											0													88.0	90.0	89.0					19																	44660426		2008	4216	6224	-	-	-	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.257T>G	19.37:g.44660426T>G	ENSP00000400878:p.Val86Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	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.V86G	ENST00000426739.2	37	c.257	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768472	0.49680	.	.	ENSG00000167380	ENST00000426739	T	0.05855	3.38	3.9	0.603	0.17541	Krueppel-associated box (1);	.	.	.	.	T	0.02494	0.0076	N	0.05230	-0.09	0.20307	N	0.999916	B	0.09022	0.002	B	0.04013	0.001	T	0.48736	-0.9009	9	0.13470	T	0.59	.	3.9012	0.09162	0.0:0.3298:0.1935:0.4767	.	86	Q14588	ZN234_HUMAN	G	86	ENSP00000400878:V86G	ENSP00000400878:V86G	V	+	2	0	ZNF226	49352266	0.000000	0.05858	0.032000	0.17829	0.926000	0.56050	-0.322000	0.08007	-0.056000	0.13221	0.482000	0.46254	GTG	ZNF234	-	pfscan_Krueppel-associated_box	ENSG00000263002		0.428	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	211	0.00	0	T			44660426	44660426	+1	no_errors	ENST00000426739	ensembl	human	known	69_37n	missense	207	13.33	32	SNP	0.058	G
ZNF229	7772	genome.wustl.edu	37	19	44934529	44934529	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:44934529A>C	ENST00000588931.1	-	6	860	c.427T>G	c.(427-429)Tgg>Ggg	p.W143G	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.W137G	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCTCCTTCCCACCCTTGATGG	0.493																																						dbGAP											0													114.0	109.0	110.0					19																	44934529		1888	4103	5991	-	-	-	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.427T>G	19.37:g.44934529A>C	ENSP00000466519:p.Trp143Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWN3|Q59FV2|Q86WL9	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.W143G	ENST00000588931.1	37	c.427	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	a	3.919	-0.018524	0.07681	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.1	-2.51	0.06365	.	.	.	.	.	T	0.16214	0.0390	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	8	0.25751	T	0.34	.	5.1685	0.15098	0.2749:0.3852:0.3399:0.0	.	143	Q9UJW7	ZN229_HUMAN	G	143	.	ENSP00000291187:W143G	W	-	1	0	ZNF229	49626369	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.657000	0.05335	-0.793000	0.04475	0.492000	0.49549	TGG	ZNF229	-	NULL	ENSG00000167383		0.493	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	146	0.67	1	A	NM_014518		44934529	44934529	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	missense	93	24.60	31	SNP	0.000	C
ZNF236	7776	genome.wustl.edu	37	18	74622659	74622659	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:74622659A>C	ENST00000253159.8	+	16	2889	c.2691A>C	c.(2689-2691)ccA>ccC	p.P897P	ZNF236_ENST00000320610.9_Silent_p.P899P	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	897					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCAGTTTCCACCTGTCCAAC	0.443																																						dbGAP											0													80.0	78.0	78.0					18																	74622659		1980	4168	6148	-	-	-	SO:0001819	synonymous_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2691A>C	18.37:g.74622659A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P897	ENST00000253159.8	37	c.2691	CCDS42447.1	18																																																																																			ZNF236	-	NULL	ENSG00000130856		0.443	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	178	0.56	1	A			74622659	74622659	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	silent	115	12.21	16	SNP	0.994	C
ZNF275	10838	genome.wustl.edu	37	X	152612811	152612811	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:152612811A>C	ENST00000421401.3	+	4	845	c.668A>C	c.(667-669)cAc>cCc	p.H223P	ZNF275_ENST00000370251.3_Missense_Mutation_p.H223P|ZNF275_ENST00000440091.1_Missense_Mutation_p.H253P|ZNF275_ENST00000370249.2_Missense_Mutation_p.H170P			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCAACACCCACCTCTTCCGA	0.537																																						dbGAP											0													115.0	120.0	118.0					X																	152612811		2173	4254	6427	-	-	-	SO:0001583	missense	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.668A>C	X.37:g.152612811A>C	ENSP00000398977:p.His223Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE92	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.H253P	ENST00000421401.3	37	c.758		X	.	.	.	.	.	.	.	.	.	.	A	9.737	1.163817	0.21538	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.62	2.08	0.27032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152886	0.30869	N	0.008719	T	0.21427	0.0516	M	0.66506	2.035	0.18873	N	0.999988	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.18335	-1.0340	10	0.46703	T	0.11	-17.6747	9.1807	0.37141	0.6828:0.3172:0.0:0.0	.	223;223	Q9NSD4;A6NFS0	ZN275_HUMAN;.	P	223;223;253;170	ENSP00000359271:H223P;ENSP00000398977:H223P;ENSP00000411097:H253P;ENSP00000359269:H170P	ENSP00000359269:H170P	H	+	2	0	ZNF275	152266005	0.000000	0.05858	0.005000	0.12908	0.672000	0.39443	0.445000	0.21677	0.193000	0.20303	0.417000	0.27973	CAC	ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000063587		0.537	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		300	0.00	0	A	NM_001080485		152612811	152612811	+1	no_errors	ENST00000440091	ensembl	human	known	69_37n	missense	186	18.42	42	SNP	0.240	C
ZNF282	8427	genome.wustl.edu	37	7	148895475	148895475	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:148895475A>C	ENST00000262085.3	+	2	321	c.216A>C	c.(214-216)ccA>ccC	p.P72P	ZNF282_ENST00000479907.1_Silent_p.P72P	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	72					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TTCAGTTCCCACCCTTTCCAG	0.582																																						dbGAP											0													63.0	61.0	62.0					7																	148895475		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.216A>C	7.37:g.148895475A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRI5|O43691|Q6DKK0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P72	ENST00000262085.3	37	c.216	CCDS5895.1	7																																																																																			ZNF282	-	NULL	ENSG00000170265		0.582	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF282	HGNC	protein_coding	OTTHUMT00000352746.1	125	0.79	1	A	NM_003575		148895475	148895475	+1	no_errors	ENST00000262085	ensembl	human	known	69_37n	silent	124	15.54	23	SNP	0.947	C
ZNF317	57693	genome.wustl.edu	37	19	9267296	9267296	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9267296A>C	ENST00000247956.6	+	3	339	c.34A>C	c.(34-36)Acc>Ccc	p.T12P	ZNF317_ENST00000360385.3_Missense_Mutation_p.T12P	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGCCACGTCCACCCAGGATTC	0.488																																						dbGAP											0													163.0	163.0	163.0					19																	9267296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.34A>C	19.37:g.9267296A>C	ENSP00000247956:p.Thr12Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	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.T12P	ENST00000247956.6	37	c.34	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	A	9.320	1.057889	0.19987	.	.	ENSG00000130803	ENST00000247956;ENST00000360385;ENST00000419608	T;T	0.07800	3.45;3.16	3.04	-0.258	0.12975	.	1.041780	0.07647	N	0.931307	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	P;B	0.35656	0.514;0.38	B;B	0.32533	0.147;0.07	T	0.41787	-0.9489	10	0.42905	T	0.14	-0.0992	5.6683	0.17707	0.6117:0.0:0.3883:0.0	.	12;12	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	P	12;12;26	ENSP00000247956:T12P;ENSP00000353554:T12P	ENSP00000247956:T12P	T	+	1	0	ZNF317	9128296	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.027000	0.13621	-0.131000	0.11578	0.477000	0.44152	ACC	ZNF317	-	NULL	ENSG00000130803		0.488	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	480	0.00	0	A	NM_020933		9267296	9267296	+1	no_errors	ENST00000247956	ensembl	human	known	69_37n	missense	541	12.01	74	SNP	0.000	C
ZNF304	57343	genome.wustl.edu	37	19	57868451	57868451	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:57868451A>C	ENST00000282286.5	+	3	1387	c.1214A>C	c.(1213-1215)cAc>cCc	p.H405P	ZNF304_ENST00000598744.1_Missense_Mutation_p.H363P|ZNF304_ENST00000443917.2_Missense_Mutation_p.H452P|ZNF304_ENST00000391705.3_Missense_Mutation_p.H405P			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAAAGCTCCCACCTTATTGAG	0.428																																						dbGAP											0													62.0	64.0	64.0					19																	57868451		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1214A>C	19.37:g.57868451A>C	ENSP00000282286:p.His405Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		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.H452P	ENST00000282286.5	37	c.1355	CCDS12950.1	19	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290772	0.40494	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.13420	2.59;2.59;2.59	4.59	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14743	0.0356	L	0.43554	1.36	0.09310	N	1	D;P	0.53885	0.963;0.91	P;B	0.49192	0.602;0.361	T	0.18524	-1.0334	9	0.30078	T	0.28	.	6.9877	0.24737	0.6423:0.276:0.0817:0.0	.	405;452	Q9HCX3;E7EQD3	ZN304_HUMAN;.	P	405;405;452	ENSP00000282286:H405P;ENSP00000375586:H405P;ENSP00000401642:H452P	ENSP00000282286:H405P	H	+	2	0	ZNF304	62560263	0.001000	0.12720	0.377000	0.26055	0.988000	0.76386	0.382000	0.20635	0.344000	0.23847	0.528000	0.53228	CAC	ZNF304	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131845		0.428	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	HGNC	protein_coding	OTTHUMT00000465785.1	239	0.41	1	A			57868451	57868451	+1	no_errors	ENST00000443917	ensembl	human	known	69_37n	missense	186	11.43	24	SNP	0.017	C
ZNF318	24149	genome.wustl.edu	37	6	43307008	43307008	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43307008A>C	ENST00000361428.2	-	10	4805	c.4728T>G	c.(4726-4728)ggT>ggG	p.G1576G	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1576					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCCTTTCCACCACTACTAT	0.463																																						dbGAP											0													52.0	56.0	55.0					6																	43307008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4728T>G	6.37:g.43307008A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.G1576	ENST00000361428.2	37	c.4728	CCDS4895.2	6																																																																																			ZNF318	-	NULL	ENSG00000171467		0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	117	0.00	0	A	NM_014345		43307008	43307008	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	silent	326	14.21	54	SNP	1.000	C
ZNF318	24149	genome.wustl.edu	37	6	43325020	43325020	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:43325020A>C	ENST00000361428.2	-	3	1109	c.1032T>G	c.(1030-1032)ggT>ggG	p.G344G	ZNF318_ENST00000318149.3_Silent_p.G344G	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	344					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGTACCACCACCATCAACTC	0.532																																						dbGAP											0													230.0	183.0	199.0					6																	43325020		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1032T>G	6.37:g.43325020A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.G344	ENST00000361428.2	37	c.1032	CCDS4895.2	6																																																																																			ZNF318	-	NULL	ENSG00000171467		0.532	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	202	0.00	0	A	NM_014345		43325020	43325020	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	silent	132	16.98	27	SNP	0.004	C
ZNF365	22891	genome.wustl.edu	37	10	64159343	64159343	+	Missense_Mutation	SNP	A	A	C	rs532864840		TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:64159343A>C	ENST00000395254.3	+	5	1299	c.1019A>C	c.(1018-1020)cAc>cCc	p.H340P	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCCCATTTCCACCCAAAGGGA	0.557																																						dbGAP											0													138.0	133.0	134.0					10																	64159343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1019A>C	10.37:g.64159343A>C	ENSP00000378674:p.His340Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H340P	ENST00000395254.3	37	c.1019	CCDS31209.1	10	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109539	0.56398	.	.	ENSG00000138311	ENST00000395254	T	0.45276	0.9	5.76	5.76	0.90799	.	.	.	.	.	T	0.46483	0.1395	L	0.57536	1.79	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.51016	0.656;0.656	T	0.41233	-0.9520	9	0.32370	T	0.25	.	9.3581	0.38179	0.8007:0.0:0.0:0.1993	.	340;355	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	P	340	ENSP00000378674:H340P	ENSP00000378674:H340P	H	+	2	0	ZNF365	63829349	0.996000	0.38824	0.994000	0.49952	0.702000	0.40608	3.466000	0.53071	2.198000	0.70561	0.528000	0.53228	CAC	ZNF365	-	NULL	ENSG00000138311		0.557	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	307	0.65	2	A	NM_014951		64159343	64159343	+1	no_errors	ENST00000395254	ensembl	human	known	69_37n	missense	301	12.43	43	SNP	0.969	C
ZNF365	22891	genome.wustl.edu	37	10	64159361	64159361	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:64159361A>C	ENST00000395254.3	+	5	1317	c.1037A>C	c.(1036-1038)cAc>cCc	p.H346P	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGAAGGAACCACCTGAAAAAG	0.562																																						dbGAP											0													141.0	138.0	139.0					10																	64159361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1037A>C	10.37:g.64159361A>C	ENSP00000378674:p.His346Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H346P	ENST00000395254.3	37	c.1037	CCDS31209.1	10	.	.	.	.	.	.	.	.	.	.	A	7.585	0.669503	0.14776	.	.	ENSG00000138311	ENST00000395254	T	0.41758	0.99	5.63	0.688	0.18027	.	.	.	.	.	T	0.19967	0.0480	N	0.08118	0	0.25182	N	0.99019	B;B	0.22683	0.021;0.073	B;B	0.25405	0.037;0.06	T	0.20605	-1.0270	9	0.52906	T	0.07	.	2.5356	0.04713	0.5846:0.1095:0.1491:0.1567	.	346;361	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	P	346	ENSP00000378674:H346P	ENSP00000378674:H346P	H	+	2	0	ZNF365	63829367	0.214000	0.23563	0.975000	0.42487	0.378000	0.30076	0.755000	0.26405	0.098000	0.17522	-1.162000	0.01777	CAC	ZNF365	-	NULL	ENSG00000138311		0.562	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	294	0.34	1	A	NM_014951		64159361	64159361	+1	no_errors	ENST00000395254	ensembl	human	known	69_37n	missense	258	16.45	51	SNP	0.053	C
ZNF365	22891	genome.wustl.edu	37	10	64430000	64430000	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr10:64430000A>C	ENST00000395251.1	+	7	924	c.590A>C	c.(589-591)cAc>cCc	p.H197P	ZNF365_ENST00000395249.1_Missense_Mutation_p.H49P|ZNF365_ENST00000410046.3_Missense_Mutation_p.H443P	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	197										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGACTGAACACCTGTTAGGT	0.403																																						dbGAP											0													272.0	267.0	269.0					10																	64430000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.590A>C	10.37:g.64430000A>C	ENSP00000378672:p.His197Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H443P	ENST00000395251.1	37	c.1328	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	A	6.390	0.440088	0.12104	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	T	0.53857	0.6	2.54	1.34	0.21922	.	.	.	.	.	T	0.39963	0.1098	N	0.08118	0	0.09310	N	1	D;B	0.64830	0.994;0.277	P;B	0.53912	0.737;0.189	T	0.20605	-1.0270	9	0.87932	D	0	.	5.4161	0.16374	0.6821:0.3179:0.0:0.0	.	197;443	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	P	443;197;49	ENSP00000378672:H197P	ENSP00000378670:H49P	H	+	2	0	ZNF365	64100006	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.594000	0.24014	0.395000	0.25257	0.377000	0.23210	CAC	ZNF365	-	NULL	ENSG00000138311		0.403	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	371	0.00	0	A	NM_014951		64430000	64430000	+1	no_errors	ENST00000410046	ensembl	human	known	69_37n	missense	271	10.56	32	SNP	0.000	C
ZNF398	57541	genome.wustl.edu	37	7	148876043	148876043	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:148876043A>C	ENST00000475153.1	+	6	1346	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	ZNF398_ENST00000426851.2_Missense_Mutation_p.H189P|ZNF398_ENST00000483892.1_Missense_Mutation_p.H189P|ZNF398_ENST00000491174.1_Missense_Mutation_p.H189P|ZNF398_ENST00000420008.2_Missense_Mutation_p.H189P|ZNF398_ENST00000335901.4_Missense_Mutation_p.H189P|ZNF398_ENST00000540950.1_Missense_Mutation_p.H365P			Q8TD17	ZN398_HUMAN	zinc finger protein 398	360					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTGCTGACCCACCAATGTAGC	0.577																																						dbGAP											0													158.0	141.0	147.0					7																	148876043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1079A>C	7.37:g.148876043A>C	ENSP00000420418:p.His360Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.H365P	ENST00000475153.1	37	c.1094	CCDS5894.1	7	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292863	0.60086	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.98	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.118680	0.38381	N	0.001704	D	0.89378	0.6698	M	0.93678	3.445	0.42388	D	0.992515	D;D	0.89917	0.971;1.0	P;D	0.87578	0.691;0.998	D	0.89579	0.3819	10	0.87932	D	0	-15.4923	8.6026	0.33754	0.9087:0.0:0.0913:0.0	.	365;360	B4DXA9;Q8TD17	.;ZN398_HUMAN	P	189;189;360;189;189;365;189	ENSP00000389972:H189P;ENSP00000416751:H189P;ENSP00000420418:H360P;ENSP00000418564:H189P;ENSP00000419391:H189P;ENSP00000439340:H365P;ENSP00000338984:H189P	ENSP00000338984:H189P	H	+	2	0	ZNF398	148506976	0.767000	0.28508	0.992000	0.48379	0.930000	0.56654	2.756000	0.47549	0.932000	0.37266	0.528000	0.53228	CAC	ZNF398	-	smart_Znf_C2H2-like	ENSG00000197024		0.577	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	HGNC	protein_coding	OTTHUMT00000352722.2	225	0.00	0	A			148876043	148876043	+1	no_errors	ENST00000540950	ensembl	human	known	69_37n	missense	321	14.51	55	SNP	1.000	C
ZNF410	57862	genome.wustl.edu	37	14	74376084	74376084	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr14:74376084T>G	ENST00000555044.1	+	8	1148	c.954T>G	c.(952-954)cgT>cgG	p.R318R	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Silent_p.R245R|Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Silent_p.R335R|ZNF410_ENST00000324593.6_Silent_p.R318R|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Silent_p.R265R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GATGTGGCCGTTCCTTTGCTG	0.413																																						dbGAP											0													180.0	180.0	180.0					14																	74376084		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.954T>G	14.37:g.74376084T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDV5|B4DR78|O00153|Q9BQ19	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R318	ENST00000555044.1	37	c.954	CCDS9821.1	14																																																																																			ZNF410	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.413	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	219	0.90	2	T	NM_021188		74376084	74376084	+1	no_errors	ENST00000555044	ensembl	human	known	69_37n	silent	152	11.11	19	SNP	0.992	G
ZNF426	79088	genome.wustl.edu	37	19	9639849	9639849	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:9639849T>G	ENST00000535489.1	-	6	1208	c.872A>C	c.(871-873)tAc>tCc	p.Y291S	ZNF426_ENST00000253115.2_Missense_Mutation_p.Y291S|ZNF426_ENST00000593003.1_Missense_Mutation_p.Y253S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTAGGCTGGGTATCTATAGCC	0.423																																						dbGAP											0													146.0	139.0	141.0					19																	9639849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.872A>C	19.37:g.9639849T>G	ENSP00000439017:p.Tyr291Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTL2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y291S	ENST00000535489.1	37	c.872	CCDS12215.1	19	.	.	.	.	.	.	.	.	.	.	T	1.722	-0.496408	0.04291	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.08282	3.11;3.11	1.38	-1.09	0.09904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.17922	0.545	0.09310	N	0.999999	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.45071	-0.9286	9	0.22109	T	0.4	.	3.0427	0.06143	0.0:0.1793:0.2509:0.5698	.	278;291	Q59EH4;Q9BUY5	.;ZN426_HUMAN	S	278;291;291	ENSP00000253115:Y291S;ENSP00000439017:Y291S	ENSP00000253115:Y291S	Y	-	2	0	ZNF426	9500849	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-4.815000	0.00182	-0.435000	0.07264	0.379000	0.24179	TAC	ZNF426	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130818		0.423	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF426	HGNC	protein_coding	OTTHUMT00000449905.1	230	0.00	0	T	NM_024106		9639849	9639849	-1	no_errors	ENST00000253115	ensembl	human	known	69_37n	missense	205	10.43	24	SNP	0.000	G
ZNF436	80818	genome.wustl.edu	37	1	23689084	23689084	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:23689084T>G	ENST00000314011.4	-	4	927	c.791A>C	c.(790-792)cAc>cCc	p.H264P	ZNF436_ENST00000374608.3_Missense_Mutation_p.H264P	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTGAGCTAGGTGAGAGCTCCG	0.507																																						dbGAP											0													101.0	106.0	104.0					1																	23689084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.791A>C	1.37:g.23689084T>G	ENSP00000313582:p.His264Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658I9	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.H264P	ENST00000314011.4	37	c.791	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646023	0.47258	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.35789	1.29;2.59;1.29	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.48624	0.1510	L	0.50993	1.605	0.41479	D	0.988154	D	0.57899	0.981	P	0.59221	0.854	T	0.37619	-0.9698	10	0.30078	T	0.28	-18.7467	14.0897	0.64982	0.0:0.0:0.0:1.0	.	264	Q9C0F3	ZN436_HUMAN	P	264	ENSP00000313582:H264P;ENSP00000363737:H264P;ENSP00000363736:H264P	ENSP00000313582:H264P	H	-	2	0	ZNF436	23561671	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.192000	0.09587	2.212000	0.71576	0.533000	0.62120	CAC	ZNF436	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125945		0.507	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	132	0.00	0	T	NM_030634		23689084	23689084	-1	no_errors	ENST00000314011	ensembl	human	known	69_37n	missense	129	12.24	18	SNP	1.000	G
ZNF460	10794	genome.wustl.edu	37	19	57802827	57802827	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:57802827A>C	ENST00000360338.3	+	3	1240	c.918A>C	c.(916-918)aaA>aaC	p.K306N	ZNF460_ENST00000537645.1_Missense_Mutation_p.K265N	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGAGAAGAAACCCTTCGCAT	0.453																																						dbGAP											0													102.0	91.0	94.0					19																	57802827		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.918A>C	19.37:g.57802827A>C	ENSP00000353491:p.Lys306Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.K306N	ENST00000360338.3	37	c.918	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433475	0.25813	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.26067	1.76;1.76	1.64	-3.29	0.05017	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25531	0.0621	M	0.80183	2.485	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.34750	-0.9816	9	0.87932	D	0	.	3.4728	0.07574	0.3432:0.0:0.3576:0.2992	.	306	Q14592	ZN460_HUMAN	N	265;306	ENSP00000446167:K265N;ENSP00000353491:K306N	ENSP00000353491:K306N	K	+	3	2	ZNF460	62494639	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.158000	0.03153	-1.461000	0.01909	-0.256000	0.11100	AAA	ZNF460	-	pfscan_Znf_C2H2	ENSG00000197714		0.453	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	144	0.00	0	A	NM_006635		57802827	57802827	+1	no_errors	ENST00000360338	ensembl	human	known	69_37n	missense	145	11.59	19	SNP	0.001	C
ZNF501	115560	genome.wustl.edu	37	3	44776284	44776284	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:44776284A>C	ENST00000396048.2	+	3	808	c.371A>C	c.(370-372)cAc>cCc	p.H124P	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		CTTATTAAACACCAGCGAATT	0.403																																						dbGAP											0													74.0	81.0	79.0					3																	44776284		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.371A>C	3.37:g.44776284A>C	ENSP00000379363:p.His124Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLY7|Q96NU9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H124P	ENST00000396048.2	37	c.371	CCDS2720.2	3	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361265	0.61403	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	D	0.86865	-2.18	3.07	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95092	0.8410	H	0.96691	3.865	0.32565	N	0.530628	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.957	D	0.95051	0.8187	9	0.87932	D	0	.	10.6871	0.45850	1.0:0.0:0.0:0.0	.	124;124	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	P	124	ENSP00000379363:H124P	ENSP00000330388:H124P	H	+	2	0	ZNF501	44751288	1.000000	0.71417	0.984000	0.44739	0.837000	0.47467	8.164000	0.89661	1.405000	0.46838	0.460000	0.39030	CAC	ZNF501	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186446		0.403	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4	165	0.00	0	A	NM_145044		44776284	44776284	+1	no_errors	ENST00000396048	ensembl	human	known	69_37n	missense	142	13.94	23	SNP	0.768	C
ZNF516	9658	genome.wustl.edu	37	18	74091505	74091505	+	Silent	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:74091505T>C	ENST00000443185.2	-	4	2882	c.2565A>G	c.(2563-2565)ggA>ggG	p.G855G	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	855					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGTGACCACTCCCAGGGGAG	0.617																																						dbGAP											0													65.0	78.0	74.0					18																	74091505		1934	4133	6067	-	-	-	SO:0001819	synonymous_variant	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2565A>G	18.37:g.74091505T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G855	ENST00000443185.2	37	c.2565		18																																																																																			ZNF516	-	NULL	ENSG00000101493		0.617	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		71	0.00	0	T	NM_014643		74091505	74091505	-1	no_errors	ENST00000443185	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.002	C
ZNF530	348327	genome.wustl.edu	37	19	58118407	58118407	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:58118407A>C	ENST00000332854.6	+	3	1734	c.1514A>C	c.(1513-1515)cAc>cCc	p.H505P	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CGAAAAACCCACCTCATTCGA	0.453																																						dbGAP											0													76.0	69.0	71.0					19																	58118407		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1514A>C	19.37:g.58118407A>C	ENSP00000332861:p.His505Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O43340|Q9P220	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.H505P	ENST00000332854.6	37	c.1514	CCDS12955.1	19	.	.	.	.	.	.	.	.	.	.	A	9.611	1.131251	0.21041	.	.	ENSG00000183647	ENST00000332854	T	0.13420	2.59	2.39	-4.79	0.03200	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	L	0.56199	1.76	0.09310	N	1	P	0.41929	0.765	B	0.27380	0.079	T	0.10382	-1.0632	9	0.35671	T	0.21	.	0.5273	0.00622	0.3772:0.1265:0.2436:0.2526	.	505	Q6P9A1	ZN530_HUMAN	P	505	ENSP00000332861:H505P	ENSP00000332861:H505P	H	+	2	0	ZNF530	62810219	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.938000	0.00089	-1.528000	0.01756	-0.405000	0.06341	CAC	ZNF530	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183647		0.453	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	222	0.00	0	A	NM_020880		58118407	58118407	+1	no_errors	ENST00000332854	ensembl	human	known	69_37n	missense	174	11.68	23	SNP	0.000	C
ZNF532	55205	genome.wustl.edu	37	18	56586018	56586018	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr18:56586018T>G	ENST00000336078.4	+	4	1275	c.499T>G	c.(499-501)Tcg>Gcg	p.S167A	ZNF532_ENST00000589288.1_Missense_Mutation_p.S167A|ZNF532_ENST00000591808.1_Missense_Mutation_p.S167A|ZNF532_ENST00000591083.1_Missense_Mutation_p.S167A|ZNF532_ENST00000591230.1_Missense_Mutation_p.S167A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTTGACGGGGTCGGCTCCCCA	0.527																																						dbGAP											0													104.0	105.0	104.0					18																	56586018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.499T>G	18.37:g.56586018T>G	ENSP00000338217:p.Ser167Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S167A	ENST00000336078.4	37	c.499	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	t	1.633	-0.518420	0.04171	.	.	ENSG00000074657	ENST00000336078	T	0.01685	4.69	5.4	1.24	0.21308	.	0.348186	0.30455	N	0.009587	T	0.01870	0.0059	L	0.40543	1.245	0.33780	D	0.624179	B	0.02656	0.0	B	0.06405	0.002	T	0.35574	-0.9783	10	0.18710	T	0.47	-9.4391	12.429	0.55563	0.0:0.0:0.4023:0.5977	.	167	Q9HCE3	ZN532_HUMAN	A	167	ENSP00000338217:S167A	ENSP00000338217:S167A	S	+	1	0	ZNF532	54736998	0.860000	0.29831	0.018000	0.16275	0.035000	0.12851	0.910000	0.28571	0.308000	0.22923	0.449000	0.29647	TCG	ZNF532	-	NULL	ENSG00000074657		0.527	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	341	0.29	1	T	NM_018181		56586018	56586018	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	missense	268	11.51	35	SNP	0.766	G
ZNF549	256051	genome.wustl.edu	37	19	58050080	58050080	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:58050080A>C	ENST00000376233.3	+	4	1889	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T557P|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGACACCGCACCAGCCTCAT	0.453																																						dbGAP											0													65.0	67.0	67.0					19																	58050080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1708A>C	19.37:g.58050080A>C	ENSP00000365407:p.Thr570Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV91|O43336|Q8NAR4	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.T570P	ENST00000376233.3	37	c.1708	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389980	0.61956	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15487	2.42;2.42	2.5	-5.0	0.03001	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11707	0.0285	N	0.25992	0.78	0.09310	N	1	B;P	0.48764	0.396;0.915	B;P	0.48598	0.092;0.583	T	0.06716	-1.0811	9	0.87932	D	0	.	1.0614	0.01601	0.2443:0.1621:0.1158:0.4777	.	570;557	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	P	557;570	ENSP00000240719:T557P;ENSP00000365407:T570P	ENSP00000240719:T557P	T	+	1	0	ZNF549	62741892	0.000000	0.05858	0.000000	0.03702	0.735000	0.41995	-0.398000	0.07259	-1.403000	0.02053	-0.480000	0.04831	ACC	ZNF549	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121406		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	205	0.49	1	A	NM_153263		58050080	58050080	+1	no_errors	ENST00000376233	ensembl	human	known	69_37n	missense	118	21.33	32	SNP	0.000	C
ZNF563	147837	genome.wustl.edu	37	19	12430263	12430263	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:12430263A>C	ENST00000293725.5	-	4	781	c.576T>G	c.(574-576)ggT>ggG	p.G192G	ZNF563_ENST00000595977.1_Silent_p.G192G	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTCTATTTCCACCTTGCACTA	0.418																																					GBM(39;623 795 5132 29510 31476)	dbGAP											0													155.0	153.0	154.0					19																	12430263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.576T>G	19.37:g.12430263A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E7|Q8NAT7	Silent	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.G192	ENST00000293725.5	37	c.576	CCDS12270.1	19																																																																																			ZNF563	-	pfscan_Znf_C2H2	ENSG00000188868		0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	279	0.00	0	A	NM_145276		12430263	12430263	-1	no_errors	ENST00000293725	ensembl	human	known	69_37n	silent	225	16.67	45	SNP	0.034	C
ZNF582	147948	genome.wustl.edu	37	19	56901402	56901402	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:56901402A>C	ENST00000301310.4	-	4	358	c.200T>G	c.(199-201)gTg>gGg	p.V67G	ZNF582_ENST00000586929.1_Missense_Mutation_p.V67G|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CACTCTCTCCACCATCCAGGG	0.547																																					Ovarian(183;1887 2032 4349 30507 51343)	dbGAP											0													109.0	97.0	101.0					19																	56901402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.200T>G	19.37:g.56901402A>C	ENSP00000301310:p.Val67Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQZ9|B7Z9R3|Q6PJT6	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.V67G	ENST00000301310.4	37	c.200	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795026	0.31777	.	.	ENSG00000018869	ENST00000301310	T	0.06849	3.25	4.54	-0.385	0.12470	Krueppel-associated box (1);	.	.	.	.	T	0.07052	0.0179	L	0.48642	1.525	0.09310	N	1	B;B	0.30068	0.267;0.267	B;B	0.27380	0.079;0.079	T	0.33292	-0.9874	9	0.62326	D	0.03	.	3.6131	0.08067	0.4679:0.0:0.182:0.3501	.	67;98	Q96NG8;B4DQZ9	ZN582_HUMAN;.	G	67	ENSP00000301310:V67G	ENSP00000301310:V67G	V	-	2	0	ZNF582	61593214	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-1.314000	0.02715	-0.299000	0.08909	0.533000	0.62120	GTG	ZNF582	-	pfscan_Krueppel-associated_box	ENSG00000018869		0.547	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	103	0.00	0	A	NM_144690		56901402	56901402	-1	no_errors	ENST00000301310	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	0.000	C
ZNF551	90233	genome.wustl.edu	37	19	58198785	58198785	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:58198785A>C	ENST00000282296.5	+	3	1327	c.1142A>C	c.(1141-1143)cAc>cCc	p.H381P	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H365P			Q7Z340	ZN551_HUMAN	zinc finger protein 551	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTTTTCGACACCAGAGAGTT	0.443																																						dbGAP											0													76.0	77.0	77.0					19																	58198785		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1142A>C	19.37:g.58198785A>C	ENSP00000282296:p.His381Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU22|P17034|Q8N246|Q9BRY1	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.H381P	ENST00000282296.5	37	c.1142	CCDS12959.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.02|17.02	3.282067|3.282067	0.59867|0.59867	.|.	.|.	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.28|2.28	2.28|2.28	0.28536|0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|0.606896	.|0.13256	.|U	.|0.401663	D|D	0.84424|0.84424	0.5469|0.5469	H|H	0.97918|0.97918	4.105|4.105	0.41332|0.41332	D|D	0.987249|0.987249	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.83233|0.83233	-0.0062|-0.0062	8|7	0.87932|0.24483	D|T	0|0.36	.|.	9.2463|9.2463	0.37527|0.37527	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	381|.	Q7Z340|.	ZN551_HUMAN|.	P|G	381;365;164|207	.|.	ENSP00000282296:H365P|ENSP00000437781:V207G	H|V	+|-	2|2	0|0	ZNF551|AC004017.1	62890597|62890597	0.999000|0.999000	0.42202|0.42202	0.019000|0.019000	0.16419|0.16419	0.156000|0.156000	0.22039|0.22039	6.117000|6.117000	0.71577|0.71577	1.040000|1.040000	0.40099|0.40099	0.459000|0.459000	0.35465|0.35465	CAC|GTG	ZNF551	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204519		0.443	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	251	0.40	1	A	NM_138347		58198785	58198785	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	missense	233	10.31	27	SNP	1.000	C
ZNF609	23060	genome.wustl.edu	37	15	64968031	64968031	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr15:64968031A>C	ENST00000326648.3	+	4	3106	c.2978A>C	c.(2977-2979)cAc>cCc	p.H993P		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	993						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCACACCCACCTTCTGAGC	0.547																																						dbGAP											0													199.0	187.0	191.0					15																	64968031		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2978A>C	15.37:g.64968031A>C	ENSP00000316527:p.His993Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.H993P	ENST00000326648.3	37	c.2978	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349041	0.61183	.	.	ENSG00000180357	ENST00000326648	T	0.47869	0.83	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.58662	-0.7597	10	0.31617	T	0.26	-22.4207	16.1822	0.81915	1.0:0.0:0.0:0.0	.	993	O15014	ZN609_HUMAN	P	993	ENSP00000316527:H993P	ENSP00000316527:H993P	H	+	2	0	ZNF609	62755084	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.497000	0.81536	2.225000	0.72522	0.460000	0.39030	CAC	ZNF609	-	NULL	ENSG00000180357		0.547	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	321	0.92	3	A	XM_042833		64968031	64968031	+1	no_errors	ENST00000326648	ensembl	human	known	69_37n	missense	296	13.20	45	SNP	1.000	C
ZNF611	81856	genome.wustl.edu	37	19	53217346	53217346	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:53217346A>C	ENST00000319783.1	-	6	428	c.112T>G	c.(112-114)Tgg>Ggg	p.W38G	ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000540744.1_Missense_Mutation_p.W38G|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000543227.1_Missense_Mutation_p.W38G|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000600943.1_Intron	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGGCATTTCCACTCTGCCAAT	0.453																																						dbGAP											0													142.0	147.0	145.0					19																	53217346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.112T>G	19.37:g.53217346A>C	ENSP00000322427:p.Trp38Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRD5|Q69YG9	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.W38G	ENST00000319783.1	37	c.112	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	10.24	1.295928	0.23564	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	T;T;T	0.10288	2.89;2.89;2.89	3.03	3.03	0.35002	Krueppel-associated box (4);	.	.	.	.	T	0.43809	0.1264	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57894	-0.7732	9	0.87932	D	0	.	10.3221	0.43773	1.0:0.0:0.0:0.0	.	38	Q8N823	ZN611_HUMAN	G	38	ENSP00000437616:W38G;ENSP00000439211:W38G;ENSP00000322427:W38G	ENSP00000322427:W38G	W	-	1	0	ZNF611	57909158	0.996000	0.38824	0.501000	0.27601	0.021000	0.10359	4.214000	0.58527	1.256000	0.44068	0.248000	0.18094	TGG	ZNF611	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000213020		0.453	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	516	0.58	3	A	NM_030972		53217346	53217346	-1	no_errors	ENST00000319783	ensembl	human	known	69_37n	missense	462	11.64	61	SNP	1.000	C
ZNF619	285267	genome.wustl.edu	37	3	40523417	40523417	+	5'UTR	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:40523417A>C	ENST00000314686.5	+	0	395				ZNF619_ENST00000429348.2_Missense_Mutation_p.T30P|ZNF619_ENST00000447116.2_Missense_Mutation_p.T30P|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.T30P|ZNF619_ENST00000521353.1_Missense_Mutation_p.T30P			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGTACTTCACCCAGAATGA	0.527																																						dbGAP											0													206.0	188.0	194.0					3																	40523417		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.-11A>C	3.37:g.40523417A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E271|C9JRN5|D4PHA2|E9PCD9	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.T30P	ENST00000314686.5	37	c.88		3	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299202	0.60195	.	.	ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000521353;ENST00000432264	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	3.03	1.81	0.25067	.	.	.	.	.	T	0.09774	0.0240	H	0.94964	3.605	0.22127	N	0.999349	B;B	0.16603	0.018;0.018	B;B	0.20767	0.031;0.031	T	0.28073	-1.0055	9	0.72032	D	0.01	.	3.7718	0.08645	0.5551:0.2259:0.0:0.219	.	30;30	C9JRN5;E9PCD9	.;.	P	30	ENSP00000411132:T30P;ENSP00000398024:T30P;ENSP00000430705:T30P;ENSP00000388710:T30P	ENSP00000398024:T30P	T	+	1	0	ZNF619	40498421	0.886000	0.30341	0.977000	0.42913	0.992000	0.81027	0.608000	0.24223	0.356000	0.24157	0.460000	0.39030	ACC	ZNF619	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000177873		0.527	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	239	0.83	2	A	NM_173656		40523417	40523417	+1	no_errors	ENST00000447116	ensembl	human	known	69_37n	missense	240	11.44	31	SNP	0.995	C
ZNF645	158506	genome.wustl.edu	37	X	22291960	22291960	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:22291960A>C	ENST00000323684.1	+	1	896	c.852A>C	c.(850-852)ccA>ccC	p.P284P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	284	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATTATGCGCCACCTCCATCTC	0.473																																						dbGAP											0													150.0	115.0	127.0					X																	22291960		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.852A>C	X.37:g.22291960A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.P284	ENST00000323684.1	37	c.852	CCDS14205.1	X																																																																																			ZNF645	-	NULL	ENSG00000175809		0.473	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	HGNC	protein_coding	OTTHUMT00000056037.1	362	0.27	1	A	NM_152577		22291960	22291960	+1	no_errors	ENST00000323684	ensembl	human	known	69_37n	silent	285	15.18	51	SNP	0.001	C
ZNF648	127665	genome.wustl.edu	37	1	182027118	182027118	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:182027118A>C	ENST00000339948.3	-	2	235	c.28T>G	c.(28-30)Tgg>Ggg	p.W10G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCTCTCCCCACCTGTCCTGG	0.542																																					NSCLC(71;908 1374 5429 20458 35642)	dbGAP											0													71.0	60.0	63.0					1																	182027118		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.28T>G	1.37:g.182027118A>C	ENSP00000344129:p.Trp10Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W10G	ENST00000339948.3	37	c.28	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851782	0.51270	.	.	ENSG00000179930	ENST00000339948	T	0.15952	2.38	2.66	2.66	0.31614	.	.	.	.	.	T	0.17619	0.0423	L	0.32530	0.975	0.37206	D	0.904606	D	0.58268	0.982	P	0.49421	0.61	T	0.12553	-1.0543	9	0.87932	D	0	.	9.1363	0.36877	1.0:0.0:0.0:0.0	.	10	Q5T619	ZN648_HUMAN	G	10	ENSP00000344129:W10G	ENSP00000344129:W10G	W	-	1	0	ZNF648	180293741	0.000000	0.05858	0.993000	0.49108	0.431000	0.31685	-0.268000	0.08607	1.481000	0.48307	0.533000	0.62120	TGG	ZNF648	-	NULL	ENSG00000179930		0.542	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	79	0.00	0	A	XM_060597		182027118	182027118	-1	no_errors	ENST00000339948	ensembl	human	known	69_37n	missense	65	23.26	20	SNP	0.997	C
ZNF649	65251	genome.wustl.edu	37	19	52394001	52394001	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:52394001A>C	ENST00000354957.3	-	5	1672	c.1388T>G	c.(1387-1389)gTg>gGg	p.V463G	ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.V435G|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000301399.5_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000420592.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGGATTTTCCACCTTCACTGA	0.453																																						dbGAP											0													236.0	210.0	219.0					19																	52394001		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1388T>G	19.37:g.52394001A>C	ENSP00000347043:p.Val463Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYJ5|B2RDC4|Q9H9N2	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.V463G	ENST00000354957.3	37	c.1388	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601893	0.28534	.	.	ENSG00000198093	ENST00000354957	T	0.06371	3.31	2.3	2.3	0.28687	.	.	.	.	.	T	0.05640	0.0148	L	0.29908	0.895	0.33449	D	0.583478	B	0.12630	0.006	B	0.08055	0.003	T	0.06844	-1.0804	9	0.87932	D	0	.	9.2943	0.37806	1.0:0.0:0.0:0.0	.	463	Q9BS31	ZN649_HUMAN	G	463	ENSP00000347043:V463G	ENSP00000347043:V463G	V	-	2	0	ZNF649	57085813	0.000000	0.05858	0.007000	0.13788	0.040000	0.13550	0.904000	0.28491	1.078000	0.41014	0.332000	0.21555	GTG	ZNF649	-	NULL	ENSG00000198093		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	366	0.00	0	A	NM_023074		52394001	52394001	-1	no_errors	ENST00000354957	ensembl	human	known	69_37n	missense	383	12.33	54	SNP	0.532	C
ZNF691	51058	genome.wustl.edu	37	1	43316934	43316934	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:43316934A>C	ENST00000372506.1	+	4	645	c.305A>C	c.(304-306)cAc>cCc	p.H102P	ZNF691_ENST00000372504.1_Missense_Mutation_p.H124P|ZNF691_ENST00000372507.1_Missense_Mutation_p.H102P|ZNF691_ENST00000372502.1_Missense_Mutation_p.H124P|ZNF691_ENST00000397044.3_Missense_Mutation_p.H133P|ZNF691_ENST00000372508.3_Missense_Mutation_p.H102P	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	133						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGAGAACACACCAGCGGATC	0.532																																						dbGAP											0													84.0	86.0	85.0					1																	43316934		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"""Zinc fingers, C2H2-type"""	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.305A>C	1.37:g.43316934A>C	ENSP00000361584:p.His102Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H133P	ENST00000372506.1	37	c.398	CCDS476.1	1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315089	0.81358	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000397034;ENST00000372503;ENST00000372502	D;D;D;D;D;D;D	0.99974	-2.18;-2.18;-2.18;-2.18;-2.18;-10.2;-2.18	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	D	0.99981	0.9994	H	0.95982	3.75	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97226	0.9881	10	0.87932	D	0	-24.46	13.8252	0.63346	1.0:0.0:0.0:0.0	.	133;133	B4DJR7;Q5VV52	.;ZN691_HUMAN	P	102;102;102;133;124;133;133;124	ENSP00000361586:H102P;ENSP00000361585:H102P;ENSP00000361584:H102P;ENSP00000380237:H133P;ENSP00000361582:H124P;ENSP00000380228:H133P;ENSP00000361580:H124P	ENSP00000361580:H124P	H	+	2	0	ZNF691	43089521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.435000	0.80391	2.309000	0.77851	0.448000	0.29417	CAC	ZNF691	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164011		0.532	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF691	HGNC	protein_coding	OTTHUMT00000020192.1	286	0.00	0	A	NM_015911		43316934	43316934	+1	no_errors	ENST00000397044	ensembl	human	known	69_37n	missense	263	13.77	42	SNP	1.000	C
ZNF746	155061	genome.wustl.edu	37	7	149191158	149191158	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:149191158A>C	ENST00000340622.3	-	3	608	c.328T>G	c.(328-330)Tgg>Ggg	p.W110G	ZNF746_ENST00000458143.2_Missense_Mutation_p.W110G|ZNF746_ENST00000461958.2_Missense_Mutation_p.W110G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	110	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTTGCCCCACTCCTGCTCG	0.582																																						dbGAP											0													184.0	160.0	168.0					7																	149191158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.328T>G	7.37:g.149191158A>C	ENSP00000345140:p.Trp110Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W110G	ENST00000340622.3	37	c.328	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	.	16.98	3.270762	0.59540	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.10288	2.89;2.89	4.02	4.02	0.46733	Krueppel-associated box (4);	0.165132	0.29376	N	0.012329	T	0.44519	0.1297	H	0.96633	3.855	0.40420	D	0.979835	D;D	0.69078	0.995;0.997	D;D	0.79108	0.98;0.992	T	0.60826	-0.7186	10	0.72032	D	0.01	-9.7759	10.9455	0.47297	1.0:0.0:0.0:0.0	.	110;110	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	G	110;110;97	ENSP00000345140:W110G;ENSP00000395007:W110G	ENSP00000345140:W110G	W	-	1	0	ZNF746	148822091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.655000	0.67981	1.685000	0.51034	0.334000	0.21626	TGG	ZNF746	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000181220		0.582	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	203	0.98	2	A	NM_152557		149191158	149191158	-1	no_errors	ENST00000458143	ensembl	human	known	69_37n	missense	245	11.55	32	SNP	1.000	C
ZNF749	388567	genome.wustl.edu	37	19	57955119	57955119	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:57955119T>G	ENST00000334181.4	+	3	853	c.603T>G	c.(601-603)ggT>ggG	p.G201G	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CCAGCCAAGGTGGGAAAGACT	0.478																																						dbGAP											0													49.0	46.0	47.0					19																	57955119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.603T>G	19.37:g.57955119T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.G201	ENST00000334181.4	37	c.603	CCDS33132.2	19																																																																																			ZNF749	-	pfscan_Znf_C2H2	ENSG00000186230		0.478	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	312	0.32	1	T	NM_001023561		57955119	57955119	+1	no_errors	ENST00000334181	ensembl	human	known	69_37n	silent	177	13.04	27	SNP	0.746	G
ZNF75D	7626	genome.wustl.edu	37	X	134421118	134421118	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:134421118T>G	ENST00000370766.3	-	7	4193	c.1484A>C	c.(1483-1485)cAc>cCc	p.H495P	ZNF75D_ENST00000370764.1_Missense_Mutation_p.H400P|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	495					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGTTTCTGGTGTCTAAGAAG	0.428																																						dbGAP											0													134.0	121.0	126.0					X																	134421118		2203	4300	6503	-	-	-	SO:0001583	missense	0			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1484A>C	X.37:g.134421118T>G	ENSP00000359802:p.His495Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.H495P	ENST00000370766.3	37	c.1484	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	T	16.12	3.031763	0.54790	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	D;D	0.96200	-3.94;-3.94	3.14	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37348	N	0.002130	D	0.97920	0.9316	H	0.94503	3.545	0.35664	D	0.812747	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99885	1.1120	10	0.87932	D	0	.	9.0775	0.36531	0.0:0.0:0.0:1.0	.	495;400	P51815;A6NK62	ZN75D_HUMAN;.	P	495;400	ENSP00000359802:H495P;ENSP00000359800:H400P	ENSP00000359800:H400P	H	-	2	0	ZNF75D	134248784	1.000000	0.71417	0.947000	0.38551	0.629000	0.37895	6.970000	0.76099	1.492000	0.48499	0.345000	0.21793	CAC	ZNF75D	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186376		0.428	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	212	0.00	0	T	NM_007131		134421118	134421118	-1	no_errors	ENST00000370766	ensembl	human	known	69_37n	missense	176	10.66	21	SNP	1.000	G
ZNF76	7629	genome.wustl.edu	37	6	35258142	35258142	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr6:35258142A>C	ENST00000373953.3	+	6	798	c.532A>C	c.(532-534)Acc>Ccc	p.T178P	ZNF76_ENST00000339411.5_Missense_Mutation_p.T178P|ZNF76_ENST00000440666.2_Missense_Mutation_p.T152P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	178					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCTCTACACCACCGCTCATCA	0.522																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	dbGAP											0													211.0	193.0	199.0					6																	35258142		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.532A>C	6.37:g.35258142A>C	ENSP00000363064:p.Thr178Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T178P	ENST00000373953.3	37	c.532	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016383	0.75161	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000636	T	0.63200	0.2491	M	0.90425	3.115	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.996	T	0.71391	-0.4607	10	0.59425	D	0.04	.	13.4118	0.60946	1.0:0.0:0.0:0.0	.	178;178;178	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	P	178;178;178;178;152;178	ENSP00000419106:T178P;ENSP00000363064:T178P;ENSP00000392243:T152P;ENSP00000344097:T178P	ENSP00000344097:T178P	T	+	1	0	ZNF76	35366120	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.078000	0.94023	2.027000	0.59764	0.459000	0.35465	ACC	ZNF76	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000065029		0.522	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	274	0.36	1	A	NM_003427		35258142	35258142	+1	no_errors	ENST00000373953	ensembl	human	known	69_37n	missense	223	11.86	30	SNP	1.000	C
ZNF77	58492	genome.wustl.edu	37	19	2939369	2939369	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:2939369T>G	ENST00000314531.4	-	2	132	c.40A>C	c.(40-42)Acc>Ccc	p.T14P	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCTGGGGTGAAGTTCACA	0.552																																						dbGAP											0													146.0	126.0	133.0					19																	2939369		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.40A>C	19.37:g.2939369T>G	ENSP00000319053:p.Thr14Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XJ3|Q9NPP0	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.T14P	ENST00000314531.4	37	c.40	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392200	0.25118	.	.	ENSG00000175691	ENST00000314531	T	0.03358	3.96	2.63	-0.0663	0.13765	Krueppel-associated box (4);	.	.	.	.	T	0.25419	0.0618	H	0.98664	4.295	0.24325	N	0.995021	D	0.89917	1.0	D	0.91635	0.999	T	0.05386	-1.0888	9	0.87932	D	0	.	4.7306	0.12962	0.5293:0.0:0.0:0.4707	.	14	Q15935	ZNF77_HUMAN	P	14	ENSP00000319053:T14P	ENSP00000319053:T14P	T	-	1	0	ZNF77	2890369	0.063000	0.20901	0.995000	0.50966	0.053000	0.15095	-0.159000	0.10056	0.200000	0.20447	0.260000	0.18958	ACC	ZNF77	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000175691		0.552	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	111	0.00	0	T	NM_021217		2939369	2939369	-1	no_errors	ENST00000314531	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	0.973	G
ZNF778	197320	genome.wustl.edu	37	16	89293604	89293604	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr16:89293604A>C	ENST00000433976.2	+	6	1156	c.824A>C	c.(823-825)cAc>cCc	p.H275P	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.H233P	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GTGCAAGTCCACCCTGGGGAA	0.502																																						dbGAP											0													57.0	58.0	58.0					16																	89293604		2034	4185	6219	-	-	-	SO:0001583	missense	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.824A>C	16.37:g.89293604A>C	ENSP00000405289:p.His275Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AG0	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.H275P	ENST00000433976.2	37	c.824	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517322	0.44763	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.41758	0.99;0.99	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65249	0.2673	M	0.90082	3.085	0.30532	N	0.767347	D;D	0.76494	0.999;0.994	D;D	0.87578	0.998;0.996	T	0.61681	-0.7013	9	0.87932	D	0	.	6.4287	0.21784	1.0:0.0:0.0:0.0	.	233;275	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	P	275;233	ENSP00000405289:H275P;ENSP00000305203:H233P	ENSP00000305203:H233P	H	+	2	0	ZNF778	87821105	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	6.017000	0.70805	0.769000	0.33313	0.456000	0.33151	CAC	ZNF778	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170100		0.502	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	113	0.85	1	A	NM_182531		89293604	89293604	+1	no_errors	ENST00000433976	ensembl	human	known	69_37n	missense	66	22.09	19	SNP	1.000	C
ZNF800	168850	genome.wustl.edu	37	7	127014827	127014827	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:127014827A>C	ENST00000393313.1	-	5	1154	c.563T>G	c.(562-564)gTg>gGg	p.V188G	ZNF800_ENST00000393312.1_Missense_Mutation_p.V188G|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.V188G			Q2TB10	ZN800_HUMAN	zinc finger protein 800	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TACAGTTTCCACCTCTGTATC	0.458																																						dbGAP											0													132.0	130.0	130.0					7																	127014827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.563T>G	7.37:g.127014827A>C	ENSP00000376989:p.Val188Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V188G	ENST00000393313.1	37	c.563	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	A	1.524	-0.546089	0.04024	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.44482	2.51;2.51;2.51;0.92	5.68	2.12	0.27331	.	0.594286	0.17661	N	0.166337	T	0.20007	0.0481	N	0.12182	0.205	0.32459	N	0.5443169999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15867	-1.0422	9	0.20519	T	0.43	-1.8635	5.8944	0.18931	0.6471:0.1465:0.2064:0.0	.	91;188	B7Z4V7;Q2TB10	.;ZN800_HUMAN	G	188	ENSP00000376989:V188G;ENSP00000265827:V188G;ENSP00000376988:V188G;ENSP00000403945:V188G	ENSP00000265827:V188G	V	-	2	0	ZNF800	126802063	0.189000	0.23263	1.000000	0.80357	0.969000	0.65631	0.638000	0.24674	0.985000	0.38656	0.528000	0.53228	GTG	ZNF800	-	NULL	ENSG00000048405		0.458	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	284	0.00	0	A	NM_176814		127014827	127014827	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	missense	183	13.21	28	SNP	0.939	C
ZNF783	100289678	genome.wustl.edu	37	7	148963687	148963687	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:148963687T>G	ENST00000434415.1	+	2	449	c.286T>G	c.(286-288)Tgg>Ggg	p.W96G		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGAGGGCAAGTGGGCCGTGCT	0.632																																						dbGAP											0													68.0	71.0	70.0					7																	148963687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.286T>G	7.37:g.148963687T>G	ENSP00000410890:p.Trp96Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J9J2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.W96G	ENST00000434415.1	37	c.286	CCDS56519.1	7	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171252	0.57584	.	.	ENSG00000204946	ENST00000434415	T	0.25749	1.78	4.88	3.7	0.42460	.	0.000000	0.30999	N	0.008445	T	0.43277	0.1240	M	0.80847	2.515	0.80722	D	1	.	.	.	.	.	.	T	0.35425	-0.9789	8	0.87932	D	0	-6.1423	8.6235	0.33875	0.0:0.0:0.194:0.806	.	.	.	.	G	96	ENSP00000410890:W96G	ENSP00000367291:W96G	W	+	1	0	ZNF783	148594620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.175000	0.50855	0.696000	0.31696	0.459000	0.35465	TGG	ZNF783	-	pfam_DUF3669_Znf	ENSG00000204946		0.632	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF783	HGNC	protein_coding	OTTHUMT00000352715.1	173	0.56	1	T	NM_001195220		148963687	148963687	+1	no_errors	ENST00000434415	ensembl	human	known	69_37n	missense	185	11.74	25	SNP	1.000	G
ZNF808	388558	genome.wustl.edu	37	19	53057655	53057655	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:53057655T>G	ENST00000359798.4	+	5	1666	c.1486T>G	c.(1486-1488)Tca>Gca	p.S496A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	496					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCCGCAGGTCATCCCTTCT	0.458																																						dbGAP											0													97.0	103.0	101.0					19																	53057655		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1486T>G	19.37:g.53057655T>G	ENSP00000352846:p.Ser496Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S427A	ENST00000359798.4	37	c.1279	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	11.36	1.617190	0.28801	.	.	ENSG00000198482	ENST00000359798	T	0.07327	3.2	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	L	0.42632	1.34	0.09310	N	1	P	0.35793	0.521	B	0.41135	0.348	T	0.32402	-0.9908	9	0.45353	T	0.12	.	2.3699	0.04328	0.0:0.1979:0.3046:0.4975	.	496	Q8N4W9	ZN808_HUMAN	A	496	ENSP00000352846:S496A	ENSP00000352846:S496A	S	+	1	0	ZNF808	57749467	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.158000	0.16422	0.666000	0.31087	0.164000	0.16699	TCA	ZNF808	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198482		0.458	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	288	0.35	1	T	NM_001039886		53057655	53057655	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	missense	226	10.98	28	SNP	0.000	G
ZNF808	388558	genome.wustl.edu	37	19	53058667	53058667	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:53058667A>C	ENST00000359798.4	+	5	2678	c.2498A>C	c.(2497-2499)cAc>cCc	p.H833P		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	833					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAACAATCACACCTTTCACGT	0.373																																						dbGAP											0													109.0	113.0	112.0					19																	53058667		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2498A>C	19.37:g.53058667A>C	ENSP00000352846:p.His833Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H764P	ENST00000359798.4	37	c.2291	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	5.985	0.365601	0.11352	.	.	ENSG00000198482	ENST00000359798	T	0.07216	3.21	1.51	0.31	0.15825	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.50993	1.605	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.39272	-0.9622	9	0.34782	T	0.22	.	2.963	0.05899	0.5069:0.2489:0.0:0.2442	.	833	Q8N4W9	ZN808_HUMAN	P	833	ENSP00000352846:H833P	ENSP00000352846:H833P	H	+	2	0	ZNF808	57750479	0.000000	0.05858	0.028000	0.17463	0.077000	0.17291	-2.817000	0.00751	-0.158000	0.11040	0.172000	0.16884	CAC	ZNF808	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198482		0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	404	0.00	0	A	NM_001039886		53058667	53058667	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	missense	372	10.98	46	SNP	0.013	C
ZNF835	90485	genome.wustl.edu	37	19	57175337	57175337	+	Silent	SNP	C	C	T			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:57175337C>T	ENST00000537055.2	-	2	1461	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	410					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGGTGTGGATCTTCTGGTGCT	0.672																																						dbGAP											0													36.0	40.0	39.0					19																	57175337		2187	4299	6486	-	-	-	SO:0001819	synonymous_variant	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1230G>A	19.37:g.57175337C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5Y0|G3V1S0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K410	ENST00000537055.2	37	c.1230	CCDS56105.1	19																																																																																			ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	24	0.00	0	C	NM_001005850		57175337	57175337	-1	no_errors	ENST00000537055	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.206	T
ZNHIT6	54680	genome.wustl.edu	37	1	86173876	86173876	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:86173876T>C	ENST00000370574.3	-	1	225	c.92A>G	c.(91-93)gAg>gGg	p.E31G	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.E31G			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	31					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTTACTCCCTCCCTGCCAGG	0.597																																						dbGAP											0													99.0	98.0	98.0					1																	86173876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.92A>G	1.37:g.86173876T>C	ENSP00000359606:p.Glu31Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.E31G	ENST00000370574.3	37	c.92	CCDS707.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146031	0.57044	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.60171	0.21;0.51	4.12	0.57	0.17347	.	0.197805	0.25083	N	0.033268	T	0.19927	0.0479	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.25257	-1.0137	10	0.87932	D	0	-7.4221	6.431	0.21796	0.0:0.4323:0.0:0.5676	.	31;31	B4DP13;Q9NWK9	.;BCD1_HUMAN	G	31	ENSP00000414344:E31G;ENSP00000359606:E31G	ENSP00000359606:E31G	E	-	2	0	ZNHIT6	85946464	0.017000	0.18338	0.058000	0.19502	0.028000	0.11728	0.454000	0.21827	0.255000	0.21593	0.383000	0.25322	GAG	ZNHIT6	-	NULL	ENSG00000117174		0.597	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT6	HGNC	protein_coding	OTTHUMT00000029186.1	198	0.50	1	T	NM_017953		86173876	86173876	-1	no_errors	ENST00000370574	ensembl	human	known	69_37n	missense	161	19.10	38	SNP	0.024	C
ZP1	22917	genome.wustl.edu	37	11	60638520	60638520	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:60638520A>C	ENST00000278853.5	+	5	917	c.917A>C	c.(916-918)cAc>cCc	p.H306P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	306	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCAACATCCACCTGGCCTAT	0.547																																						dbGAP											0													174.0	149.0	158.0					11																	60638520		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.917A>C	11.37:g.60638520A>C	ENSP00000278853:p.His306Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.H306P	ENST00000278853.5	37	c.917	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323813	0.24080	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.83914	-1.78	4.95	-9.9	0.00461	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.411672	0.27072	N	0.021077	D	0.86674	0.5989	M	0.62723	1.935	0.09310	N	1	D	0.60160	0.987	P	0.62560	0.904	D	0.85190	0.1009	10	0.59425	D	0.04	-4.5714	23.4913	0.99983	0.1532:0.0:0.8468:0.0	.	306	P60852	ZP1_HUMAN	P	306;13	ENSP00000278853:H306P	ENSP00000278853:H306P	H	+	2	0	ZP1	60395096	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-1.677000	0.01944	-2.534000	0.00489	-1.962000	0.00476	CAC	ZP1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000149506		0.547	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1	70	0.00	0	A	NM_207341		60638520	60638520	+1	no_errors	ENST00000278853	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.059	C
ZP1	22917	genome.wustl.edu	37	11	60638537	60638537	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:60638537A>C	ENST00000278853.5	+	5	934	c.934A>C	c.(934-936)Acc>Ccc	p.T312P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	312	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTATGCCCCCACCAGCTGCTC	0.572																																						dbGAP											0													139.0	122.0	128.0					11																	60638537		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.934A>C	11.37:g.60638537A>C	ENSP00000278853:p.Thr312Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.T312P	ENST00000278853.5	37	c.934	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	A	5.309	0.242384	0.10077	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	T	0.80480	-1.38	4.95	-9.65	0.00537	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.749119	0.13032	N	0.419214	T	0.43787	0.1263	N	0.02181	-0.65	0.09310	N	1	B	0.15719	0.014	B	0.25987	0.065	T	0.47341	-0.9125	10	0.21014	T	0.42	-3.4846	2.4094	0.04420	0.1209:0.409:0.2228:0.2473	.	312	P60852	ZP1_HUMAN	P	312;19	ENSP00000278853:T312P	ENSP00000278853:T312P	T	+	1	0	ZP1	60395113	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	-0.369000	0.07533	-1.571000	0.01663	0.260000	0.18958	ACC	ZP1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000149506		0.572	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1	74	0.00	0	A	NM_207341		60638537	60638537	+1	no_errors	ENST00000278853	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.000	C
ZP3	7784	genome.wustl.edu	37	7	76062303	76062303	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:76062303T>G	ENST00000394857.3	+	3	549	c.491T>G	c.(490-492)gTg>gGg	p.V164G	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000336517.4_Missense_Mutation_p.V113G	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	164	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGGACCACGGTGTTCTCAGAG	0.577																																						dbGAP											0													100.0	83.0	89.0					7																	76062303		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.491T>G	7.37:g.76062303T>G	ENSP00000378326:p.Val164Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06633|Q29RW0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.V164G	ENST00000394857.3	37	c.491	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	T	9.753	1.167977	0.21621	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.82433	-1.61;-1.61	5.4	5.4	0.78164	Zona pellucida sperm-binding protein (3);	1.003600	0.08019	N	0.991704	D	0.88422	0.6432	M	0.65975	2.015	0.39810	D	0.972685	B;D	0.55172	0.027;0.97	B;P	0.54965	0.033;0.765	T	0.82894	-0.0231	10	0.45353	T	0.12	-9.1063	13.3655	0.60680	0.0:0.0:0.0:1.0	.	113;164	P21754-3;P21754	.;ZP3_HUMAN	G	113;164;164	ENSP00000337310:V113G;ENSP00000378326:V164G	ENSP00000337310:V113G	V	+	2	0	ZP3	75900239	0.816000	0.29132	0.003000	0.11579	0.572000	0.35998	3.222000	0.51223	2.051000	0.60960	0.459000	0.35465	GTG	ZP3	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000188372		0.577	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	HGNC	protein_coding	OTTHUMT00000253004.1	31	0.00	0	T			76062303	76062303	+1	no_errors	ENST00000394857	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.007	G
ZP3	7784	genome.wustl.edu	37	7	76062945	76062945	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr7:76062945A>C	ENST00000394857.3	+	4	752	c.694A>C	c.(694-696)Acc>Ccc	p.T232P	ZP3_ENST00000416245.1_Missense_Mutation_p.T56P|ZP3_ENST00000336517.4_Missense_Mutation_p.T181P	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	232	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CCCTTATCACACCATCGTGGA	0.557																																						dbGAP											0													126.0	105.0	112.0					7																	76062945		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.694A>C	7.37:g.76062945A>C	ENSP00000378326:p.Thr232Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06633|Q29RW0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.T232P	ENST00000394857.3	37	c.694	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776477	0.31411	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245	D;D;D	0.82984	-1.67;-1.67;-1.67	5.52	3.04	0.35103	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.937622	0.09041	N	0.857370	D	0.82504	0.5051	L	0.49455	1.56	0.24283	N	0.995193	D;B	0.54397	0.966;0.274	P;B	0.53809	0.735;0.18	T	0.68409	-0.5416	10	0.37606	T	0.19	-17.277	3.9726	0.09460	0.6701:0.0:0.1671:0.1628	.	181;232	P21754-3;P21754	.;ZP3_HUMAN	P	181;232;232;56	ENSP00000337310:T181P;ENSP00000378326:T232P;ENSP00000411955:T56P	ENSP00000337310:T181P	T	+	1	0	ZP3	75900881	0.000000	0.05858	1.000000	0.80357	0.930000	0.56654	-0.694000	0.05115	0.877000	0.35895	0.533000	0.62120	ACC	ZP3	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000188372		0.557	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	HGNC	protein_coding	OTTHUMT00000253004.1	71	0.00	0	A			76062945	76062945	+1	no_errors	ENST00000394857	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	0.878	C
ZP4	57829	genome.wustl.edu	37	1	238051746	238051746	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr1:238051746T>G	ENST00000366570.4	-	4	623	c.465A>C	c.(463-465)gcA>gcC	p.A155A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	155	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGGTGAAGGTGCACATGGCA	0.483																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											0													130.0	117.0	121.0					1																	238051746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.465A>C	1.37:g.238051746T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.A155	ENST00000366570.4	37	c.465	CCDS1615.1	1																																																																																			ZP4	-	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil	ENSG00000116996		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	140	0.00	0	T			238051746	238051746	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	silent	200	11.50	26	SNP	0.001	G
ZRSR2	8233	genome.wustl.edu	37	X	15833901	15833901	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chrX:15833901A>C	ENST00000307771.7	+	8	683	c.659A>C	c.(658-660)gAc>gCc	p.D220A		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	220	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GATGACTATGACCCTGACGCA	0.473			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	dbGAP		Rec	yes		X	Xp22.1	8233	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""		L	0													164.0	141.0	148.0					X																	15833901		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.659A>C	X.37:g.15833901A>C	ENSP00000303015:p.Asp220Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D69	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom	p.D220A	ENST00000307771.7	37	c.659	CCDS14172.1	X	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657046	0.88154	.	.	ENSG00000169249	ENST00000307771	D	0.85013	-1.93	5.41	5.41	0.78517	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.91522	0.5235	10	0.62326	D	0.03	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	220	Q15696	U2AFM_HUMAN	A	220	ENSP00000303015:D220A	ENSP00000303015:D220A	D	+	2	0	ZRSR2	15743822	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.108000	0.94275	1.813000	0.52934	0.486000	0.48141	GAC	ZRSR2	-	smart_RRM_dom_euk,pfscan_RRM_dom	ENSG00000169249		0.473	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRSR2	HGNC	protein_coding	OTTHUMT00000055889.1	124	0.00	0	A	NM_005089		15833901	15833901	+1	no_errors	ENST00000307771	ensembl	human	known	69_37n	missense	114	19.15	27	SNP	1.000	C
ZSCAN4	201516	genome.wustl.edu	37	19	58189791	58189791	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:58189791T>G	ENST00000318203.5	+	5	1517	c.820T>G	c.(820-822)Tgt>Ggt	p.C274G		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	274					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAGCAGGGTGTATCTCTCA	0.493																																						dbGAP											0													113.0	103.0	106.0					19																	58189791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.820T>G	19.37:g.58189791T>G	ENSP00000321963:p.Cys274Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIQ2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C274G	ENST00000318203.5	37	c.820	CCDS12958.1	19	.	.	.	.	.	.	.	.	.	.	T	7.122	0.578080	0.13686	.	.	ENSG00000180532	ENST00000318203	T	0.07327	3.2	3.66	1.47	0.22746	.	1.633860	0.03340	N	0.194609	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37957	-0.9683	10	0.22706	T	0.39	-0.2069	3.1765	0.06570	0.2055:0.1151:0.0:0.6795	.	274	Q8NAM6	ZSCA4_HUMAN	G	274	ENSP00000321963:C274G	ENSP00000321963:C274G	C	+	1	0	ZSCAN4	62881603	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.309000	0.08145	0.230000	0.21059	0.533000	0.62120	TGT	ZSCAN4	-	NULL	ENSG00000180532		0.493	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN4	HGNC	protein_coding	OTTHUMT00000466812.1	107	0.00	0	T	NM_152677		58189791	58189791	+1	no_errors	ENST00000318203	ensembl	human	known	69_37n	missense	104	19.38	25	SNP	0.000	G
ZSCAN1	284312	genome.wustl.edu	37	19	58565326	58565326	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr19:58565326A>C	ENST00000282326.1	+	6	1381	c.1134A>C	c.(1132-1134)agA>agC	p.R378S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	378					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCCCAAAAGACCCTTCCAGT	0.667																																						dbGAP											0													25.0	29.0	27.0					19																	58565326		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1134A>C	19.37:g.58565326A>C	ENSP00000282326:p.Arg378Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R378S	ENST00000282326.1	37	c.1134	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278454	0.40294	.	.	ENSG00000152467	ENST00000282326	T	0.05025	3.51	0.993	-0.715	0.11215	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.80722	D	1	P	0.47604	0.898	P	0.47402	0.546	T	0.52741	-0.8535	9	0.72032	D	0.01	.	5.3048	0.15797	0.2356:0.0:0.7644:0.0	.	378	Q8NBB4	ZSCA1_HUMAN	S	378	ENSP00000282326:R378S	ENSP00000282326:R378S	R	+	3	2	ZSCAN1	63257138	0.997000	0.39634	0.009000	0.14445	0.102000	0.19082	0.234000	0.17930	-0.032000	0.13758	-0.736000	0.03550	AGA	ZSCAN1	-	NULL	ENSG00000152467		0.667	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	20	0.00	0	A	NM_182572		58565326	58565326	+1	no_errors	ENST00000282326	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.998	C
ZSWIM1	90204	genome.wustl.edu	37	20	44511366	44511366	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr20:44511366A>C	ENST00000372523.1	+	2	230	c.135A>C	c.(133-135)ccA>ccC	p.P45P	ZSWIM1_ENST00000372520.1_Silent_p.P45P	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	45						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				ACTCAAGCCCACCTATGCTGC	0.483																																						dbGAP											0													139.0	112.0	121.0					20																	44511366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.135A>C	20.37:g.44511366A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.P45	ENST00000372523.1	37	c.135	CCDS13382.2	20																																																																																			ZSWIM1	-	NULL	ENSG00000168612		0.483	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM1	HGNC	protein_coding	OTTHUMT00000157064.2	133	0.75	1	A	NM_080603		44511366	44511366	+1	no_errors	ENST00000372520	ensembl	human	known	69_37n	silent	139	13.04	21	SNP	0.926	C
ZW10	9183	genome.wustl.edu	37	11	113609076	113609076	+	Silent	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr11:113609076A>C	ENST00000200135.3	-	13	1938	c.1794T>G	c.(1792-1794)ggT>ggG	p.G598G		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	598					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CCAGAAGTTCACCTTTCTGTG	0.403																																						dbGAP											0													97.0	91.0	93.0					11																	113609076		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1794T>G	11.37:g.113609076A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A528	Silent	SNP	pfam_RZZ-complex_Zw10	p.G598	ENST00000200135.3	37	c.1794	CCDS8363.1	11																																																																																			ZW10	-	pfam_RZZ-complex_Zw10	ENSG00000086827		0.403	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	120	0.00	0	A	NM_004724		113609076	113609076	-1	no_errors	ENST00000200135	ensembl	human	known	69_37n	silent	83	21.70	23	SNP	0.998	C
ZXDC	79364	genome.wustl.edu	37	3	126191013	126191013	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr3:126191013T>G	ENST00000389709.3	-	2	1096	c.1043A>C	c.(1042-1044)cAc>cCc	p.H348P	ZXDC_ENST00000336332.5_Missense_Mutation_p.H348P	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	348					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCTCCGCAGGTGAATTTTCAG	0.468																																						dbGAP											0													58.0	63.0	62.0					3																	126191013		2141	4277	6418	-	-	-	SO:0001583	missense	0			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1043A>C	3.37:g.126191013T>G	ENSP00000374359:p.His348Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H348P	ENST00000389709.3	37	c.1043	CCDS43145.1	3	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976310	0.74360	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.57595	0.39;0.39	4.29	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	H	0.96633	3.855	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.91635	0.977;0.999	D	0.85771	0.1355	10	0.87932	D	0	-22.145	11.668	0.51385	0.0:0.0:0.0:1.0	.	348;348	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	P	348	ENSP00000374359:H348P;ENSP00000337694:H348P	ENSP00000337694:H348P	H	-	2	0	ZXDC	127673703	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	8.035000	0.88872	1.710000	0.51325	0.402000	0.26972	CAC	ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000070476		0.468	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	60	0.00	0	T	NM_025112		126191013	126191013	-1	no_errors	ENST00000389709	ensembl	human	known	69_37n	missense	51	27.78	20	SNP	1.000	G
ZZEF1	23140	genome.wustl.edu	37	17	3926061	3926061	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3926061A>C	ENST00000381638.2	-	44	7278	c.7154T>G	c.(7153-7155)gTg>gGg	p.V2385G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2385							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCACTTTTTCACCAGCAACTT	0.517																																						dbGAP											0													113.0	101.0	105.0					17																	3926061		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7154T>G	17.37:g.3926061A>C	ENSP00000371051:p.Val2385Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.V2385G	ENST00000381638.2	37	c.7154	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	A	28.1	4.893047	0.91889	.	.	ENSG00000074755	ENST00000381638	T	0.33654	1.4	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52845	-0.8521	10	0.87932	D	0	-17.89	16.4484	0.83959	1.0:0.0:0.0:0.0	.	2385	O43149	ZZEF1_HUMAN	G	2385	ENSP00000371051:V2385G	ENSP00000371051:V2385G	V	-	2	0	ZZEF1	3872810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.901000	0.92560	2.285000	0.76669	0.533000	0.62120	GTG	ZZEF1	-	NULL	ENSG00000074755		0.517	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	134	0.00	0	A	NM_015113		3926061	3926061	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	170	10.47	20	SNP	1.000	C
ZZEF1	23140	genome.wustl.edu	37	17	3937349	3937349	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3937349T>G	ENST00000381638.2	-	40	6668	c.6544A>C	c.(6544-6546)Acc>Ccc	p.T2182P		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2182							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGCAGGTGGGTGGTTTTCCAG	0.552																																						dbGAP											0													123.0	118.0	119.0					17																	3937349		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6544A>C	17.37:g.3937349T>G	ENSP00000371051:p.Thr2182Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.T2182P	ENST00000381638.2	37	c.6544	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	T	15.50	2.853385	0.51270	.	.	ENSG00000074755	ENST00000381638	T	0.22945	1.93	5.79	4.52	0.55395	.	0.468148	0.21003	N	0.081823	T	0.32436	0.0829	N	0.19112	0.55	0.26406	N	0.976336	D;D	0.71674	0.998;0.976	D;P	0.64877	0.93;0.637	T	0.08659	-1.0711	10	0.62326	D	0.03	-15.1109	12.3782	0.55291	0.0:0.0757:0.0:0.9243	.	2182;2182	O43149-2;O43149	.;ZZEF1_HUMAN	P	2182	ENSP00000371051:T2182P	ENSP00000371051:T2182P	T	-	1	0	ZZEF1	3884098	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.918000	0.48829	2.212000	0.71576	0.533000	0.62120	ACC	ZZEF1	-	NULL	ENSG00000074755		0.552	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	193	0.00	0	T	NM_015113		3937349	3937349	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	213	18.56	49	SNP	0.991	G
ZZEF1	23140	genome.wustl.edu	37	17	3966100	3966100	+	Silent	SNP	T	T	G			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3966100T>G	ENST00000381638.2	-	30	4954	c.4830A>C	c.(4828-4830)ccA>ccC	p.P1610P		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1610							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTATGAAAGGTGGATGGAAGC	0.473																																						dbGAP											0													52.0	52.0	52.0					17																	3966100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4830A>C	17.37:g.3966100T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	NULL	p.T96P	ENST00000381638.2	37	c.286	CCDS11043.1	17																																																																																			ZZEF1	-	NULL	ENSG00000074755		0.473	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	43	0.00	0	T	NM_015113		3966100	3966100	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571436	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	0.005	G
ZZEF1	23140	genome.wustl.edu	37	17	3989085	3989085	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A6-01A-12W-A071-09	TCGA-A8-A0A6-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	799fe8eb-ef90-40d9-850b-aea8c529a4da	53ce4246-678f-45a1-be5b-7f6863bbd049	g.chr17:3989085A>C	ENST00000381638.2	-	16	2649	c.2525T>G	c.(2524-2526)gTg>gGg	p.V842G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	842							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCTCCATCCACCTTGTCCAC	0.428																																						dbGAP											0													175.0	159.0	164.0					17																	3989085		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2525T>G	17.37:g.3989085A>C	ENSP00000371051:p.Val842Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.V842G	ENST00000381638.2	37	c.2525	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	A	8.466	0.856485	0.17106	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	6.06	0.99	0.19807	.	0.805770	0.11962	N	0.512659	T	0.08358	0.0208	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36529	-0.9744	10	0.17832	T	0.49	-0.2562	0.9083	0.01289	0.4817:0.1566:0.152:0.2098	.	842;842	O43149-3;O43149	.;ZZEF1_HUMAN	G	842	ENSP00000371051:V842G	ENSP00000371051:V842G	V	-	2	0	ZZEF1	3935834	0.000000	0.05858	0.003000	0.11579	0.958000	0.62258	0.625000	0.24477	0.156000	0.19299	0.533000	0.62120	GTG	ZZEF1	-	NULL	ENSG00000074755		0.428	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	289	0.34	1	A	NM_015113		3989085	3989085	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	226	14.07	37	SNP	0.001	C
